ZMP
RECQL4
Ensembl ID:
Description:
RecQ protein-like 4 [Source:HGNC Symbol;Acc:9949]
Human Orthologue:
RECQL4
Human Description:
RecQ protein-like 4 [Source:HGNC Symbol;Acc:9949]
Mouse Orthologue:
Recql4
Mouse Description:
RecQ protein-like 4 Gene [Source:MGI Symbol;Acc:MGI:1931028]
Alleles
There are 7 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa32227 | Nonsense | Available for shipment | Available now |
sa23412 | Essential Splice Site | Available for shipment | Available now |
sa25080 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa15595 | Essential Splice Site | Available for shipment | Available now |
sa23411 | Essential Splice Site | Available for shipment | Available now |
sa36752 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa32227
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000109130 | Nonsense | 364 | 1459 | 5 | 24 |
Genomic Location (Zv9):
Chromosome 19 (position 3319445)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 2920877 |
GRCz11 | 19 | 2815397 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAGATGATGAGAACTTATCAGAGGAGCCTGAATTTACTCCAAACACTAAA[C/T]AACGCAAAACCAAGGCTAGAAAAGATCAAGATTCAGGTGCAAAAACGAAA
Long Flanking Sequence:
CCTGCTCTACAGTTGTAGGTTCTGCGCAGAAGAGCGTGGAGCGAGTCCAGTTCCTGAGGCAGTCCATCACCAGGAGGTTTTCATCCGTGGACAGTGGCTGGCTTGCACGCTGTCAGGTTTTCGATGAGGTGGAGGAACCTCAGAAACCTGTTGCAGGGAATTCAGAGCTGGCGAAGGATGAGAAAAGTTTCTTGCAACCTGCTGTTGGAAGCAAATCTGGCTCCCCGGGGACTCATGGTGAACGGGTTTCTCATAAAAATAGCCCAAATGAGGGTCAGACATTTTCAAATACTTTATTGGGGAGGAAGAAATCCTCCCTGCCAGAAGAAGAAGCACAGATAGATCTAGTAACATCTTCAGTAAGGAATAATGTAGTGTTGAATGCAATATCGGGCTCCCCAGGGACTCATGGTGAACGGGTATCCCTTAAAAGTAGCCCAAAGCTGAGGGTAGATGATGAGAACTTATCAGAGGAGCCTGAATTTACTCCAAACACTAAA[C/T]AACGCAAAACCAAGGCTAGAAAAGATCAAGATTCAGGTGCAAAAACGAAAGGTCGAAAAAGGCAAAGAGAGGCTGATAATGGTGATGATATGGATGAATCTGAAGAGAAAGAAGGTGGAGTGAAAAAGAGAAGGAAAACTAAGAAAGGAGAGACCGCTGGGGAAGATCAGCCCAAGAAAAGAGGGAAGAAGAAAGGAAAAGTGGAAGAGGATGATGACGATGGCAGCTCGGAGAACAAGAAACCTCAGAAACGAGCGATGCCTCAGGAGAATCTTCTGGGTGAGGTGGATGAGGAGGAGGCCAGAGCAGCTGCGTATGCCATGAAGAACACGGTCAGGGTCAGGTGGGTAACATAAATCTGTCAGGAATTGGCATTAAAGGGTTAGTCCACGCAAAAATTATAATTACATCATCATTTCTCTCCCTCATGTGTTTTTAAACCTTTTTTGAGTTTCTGTTTTGTTAAACACAAAAGAACGAACCCTGTATTTGGTTTACTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23412
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000109130 | Essential Splice Site | 511 | 1459 | 6 | 24 |
Genomic Location (Zv9):
Chromosome 19 (position 3318820)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 2920252 |
GRCz11 | 19 | 2814772 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTCCCACGTCAAAGGGTTTGCTTTGAGAGGAGCTGCACTGAGAAAACAG[G/A]TTGGTTGACAAAATCAAACACCTACTTGAAATTTATTGTTCATGCAGTAA
Long Flanking Sequence:
AAAGAGAAGGAAAACTAAGAAAGGAGAGACCGCTGGGGAAGATCAGCCCAAGAAAAGAGGGAAGAAGAAAGGAAAAGTGGAAGAGGATGATGACGATGGCAGCTCGGAGAACAAGAAACCTCAGAAACGAGCGATGCCTCAGGAGAATCTTCTGGGTGAGGTGGATGAGGAGGAGGCCAGAGCAGCTGCGTATGCCATGAAGAACACGGTCAGGGTCAGGTGGGTAACATAAATCTGTCAGGAATTGGCATTAAAGGGTTAGTCCACGCAAAAATTATAATTACATCATCATTTCTCTCCCTCATGTGTTTTTAAACCTTTTTTGAGTTTCTGTTTTGTTAAACACAAAAGAACGAACCCTGTATTTGGTTTACTTATTCATCACTATAATTTTGTCCAGGCCTACTAAGAACACAGATGGAAATTTTGTGAAAATCAATTTGAAGAAGAAGTCCCACGTCAAAGGGTTTGCTTTGAGAGGAGCTGCACTGAGAAAACAG[G/A]TTGGTTGACAAAATCAAACACCTACTTGAAATTTATTGTTCATGCAGTAAGGACAATTGACATAATTTAGTCATTCTTTTAGTTGCTCAAACTCTCATATCCTCATATATGTTAAAACACAAAATTCATTACATTATAATAAGAAATAATGAGACCAAAAGCTCTTCTTAATCTTTTCATATATGTGAAAAAAAATCTTAAAGACATAATCGTTTTACATTATAATTATTCAGTGTCTGTGTCGACCTGAGTTACTCGGCTCAATCCTGTTTCTCTCTGCTCCTCAAACTTTTTCAGTCTATACTCTACTGTCCTGTCAATATTAAAGAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTCTTTAATATTGACAGGACAGTAGAGTATAGACTGAAAAAGTTTGAGGAGCAGAGAGAAACAGGATTGAGCCGGGTAACTCAGGTCGACTCAAACACTGCAGTGCTATATGTTGGCGCG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa25080
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000109130 | Essential Splice Site | 683 | 1459 | 11 | 24 |
Genomic Location (Zv9):
Chromosome 19 (position 3313184)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 2914616 |
GRCz11 | 19 | 2809136 |
KASP Assay ID:
554-7736.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTAAACCAGATTTTTTTTTTTGGATCTGTTGATGTTTTCGTGTGTCTTCA[G/T]GTTTGTCCACACTGGTGGTTTTGTCCACTGGTATGGGCAAGTCTCTGTGT
Long Flanking Sequence:
CATAGGGGGGATAACCAGGAATAGAACACAGCCAGGAACTCTGCTTCTAACCACAGCTCCAGAGGTGTAGTTGTAAGCATTCACGTTTGCGATGCAGTTTGCGAATGTTCGTTGGAATGACGAATTTAGGAAACACCAAATCAACGAACTATGTTTGTAACAACGAAACTTGCGACCTTAGTTAGCTAACAATGGTTTTCGGAAACCCTTATCTGCACAATTAATACATAATTCTAGTTTGACAGAAACGAATGTTCTTTTAAATCTCTGTTTTTATGTTTATAAAATGTTCACTGCTTTTTTGAGTCTTTAAAAAATCTATTTTGCTGAAGTCAAAAGTGCGTTCATTATGGCACACTTACCCTTAGTAAGTTTTAATCTGCTTTCAGATCTCATAGCCATGGGTTTTTACAACTAAATCACTATGAGTTTTATAAGAAGTGCTTAAAAGTAAACCAGATTTTTTTTTTTGGATCTGTTGATGTTTTCGTGTGTCTTCA[G/T]GTTTGTCCACACTGGTGGTTTTGTCCACTGGTATGGGCAAGTCTCTGTGTTACCAGCTGCCTGCATACCTGTACGCCCAGAGGAGCAAGAGCATCACGCTGGTGGTGTCTCCTCTGGTGTCTCTGATGGATGATCAGGTACTGCTGGAGGTTTATTACTACTGCTTACGACTCATTTCCAGCAAATAGAAAGTAGTTTGATGGATTTTTGAATTGTTTGTGAAGCTTTCTGGACTCCCGCCGAAGCTGAAAGCTGCCTGCATCCACTCCAACATGTCTGCGAAACAGAGAGAGGCGGCCATTGAGAAGGTAGAAGAGTAATACTAATAAAATGCAACTGATGTCCAATTTCTTGTTATACATACAGTAACGAAGGATAGAGAAATAATTTATTTATTTATTTTCCTTATTTTTTATAGTATTATCAATATACTGTTATATCACTTATAAAAAATATGTCTGTTTTTTGTTTTATAGTATTTTTCTTTCATTAATTTTGCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15595
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000109130 | Essential Splice Site | 756 | 1459 | 12 | 24 |
Genomic Location (Zv9):
Chromosome 19 (position 3312875)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 2914307 |
GRCz11 | 19 | 2808827 |
KASP Assay ID:
2261-2787.1 (used for ordering genotyping assays)
KASP Sequence:
GCATCCACTCCAACATGTCTGCGAAACAGAGAGAGGCGGCCATTGAGAAG[G/A]TAGAAGAGTAATRCTAATAAAATGCAAYTGATGTCCAATTTCTTGTTATA
Long Flanking Sequence:
TTAAAAAATCTATTTTGCTGAAGTCAAAAGTGCGTTCATTATGGCACACTTACCCTTAGTAAGTTTTAATCTGCTTTCAGATCTCATAGCCATGGGTTTTTACAACTAAATCACTATGAGTTTTATAAGAAGTGCTTAAAAGTAAACCAGATTTTTTTTTTTGGATCTGTTGATGTTTTCGTGTGTCTTCAGGTTTGTCCACACTGGTGGTTTTGTCCACTGGTATGGGCAAGTCTCTGTGTTACCAGCTGCCTGCATACCTGTACGCCCAGAGGAGCAAGAGCATCACGCTGGTGGTGTCTCCTCTGGTGTCTCTGATGGATGATCAGGTACTGCTGGAGGTTTATTACTACTGCTTACGACTCATTTCCAGCAAATAGAAAGTAGTTTGATGGATTTTTGAATTGTTTGTGAAGCTTTCTGGACTCCCGCCGAAGCTGAAAGCTGCCTGCATCCACTCCAACATGTCTGCGAAACAGAGAGAGGCGGCCATTGAGAAG[G/A]TAGAAGAGTAATACTAATAAAATGCAACTGATGTCCAATTTCTTGTTATACATACAGTAACGAAGGATAGAGAAATAATTTATTTATTTATTTTCCTTATTTTTTATAGTATTATCAATATACTGTTATATCACTTATAAAAAATATGTCTGTTTTTTGTTTTATAGTATTTTTCTTTCATTAATTTTGCTGTGTTTTTGGTTTTATTTGTAATATTTTTAATTTTATTAAGTTTATTTCTGTAAATTATTTCAGTGTAGCATTTCTCATTTAATTACTATTATTACACTATTATTTAATTTAAATTTAATTAATTTAAATTTAAATTATTTAATTTACTACAATTATTTATTTATTTATTTGTGTGTATTTATGTGTAATAAATTATGCACTATTATTTGACCATTAGAATTTTATTTAGATTTCATTCTTTTAGTTTTAGCTGTGTTTTTCTAGTAATGTTTTCTAGTAATTTATTTAATTTAATTTTATAGATATGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23411
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000109130 | Essential Splice Site | 947 | 1459 | 15 | 24 |
Genomic Location (Zv9):
Chromosome 19 (position 3308385)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 2909817 |
GRCz11 | 19 | 2804337 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTGCAGGAGGACGACGACAACCCTGTGGGCAAGAAGAAGAAAGCTCTGG[G/T]TAAATACTGCAACGGTACAGTAGGGAGACATCTGTGACTTATTATTCATA
Long Flanking Sequence:
TTTTCCAGCACATTTCTAATCATAATAGTTTTAATAACTCATCTCTAATAACAGATTTATTTTATCTTTGTCATGATGACAGTAAATAATATTTGACTAGATATTCTTCAAGACACTTCTATACAGCTTAAAGTGACATTTAAAGCCTTAACTAGGTTAATTAGGTTAACTAGGCAGGTTAGGGTATTGTATAACCATGGTTTGTTCTGTAGACCGTCAACAGTATTTATTTATTTTTTGTGCATGCAGTAATTTTAGTTTTGCTCCATGCATTTCTGAAACGTCTCCTTGTGTTCAGGCTCTGGTGTCTCTGCTGAAGGGTGAGCGCTTTGGAGCTCTGGACTCGGTAATCGTCTACTGCACCAGACGAGAGGAGACGAGCCGCATCGCTGCACTGCTGCGCACCTGCCTGCAGGGGGTGATGCTGAGAGAATCCTCCAAACACACAGCGCTGCAGGAGGACGACGACAACCCTGTGGGCAAGAAGAAGAAAGCTCTGG[G/T]TAAATACTGCAACGGTACAGTAGGGAGACATCTGTGACTTATTATTCATATCATTACTCAATCACAACAATAACTGCTGTTTTTACATTCTGTAGACATGTATACATGTTATTATAGTGACTTGTCGCCTGTCAATCAATTCGGTGGGTGGGGGAAACCGCACTCCTATGTCACGTTGCGGTGGGTCTCAAAATCACTGGGATTTGGATCCTATTTTATATTTATTACAAGAGACTAAGGGCCCTATCATACACCCGGCGCAGTGTGGCGCAAGGCGCGGCGCAATAGTCTTTTGGTAGTTTCAGCTTGGTGCAAGAGTGGTTTTGAGGCGTTGCGCTTCGCTGTTTAAATAGTAAATGCATTAGCGCTCATATGTGCACCCATAGGCATTCTGGTCTAAAAAGGAAGGCGTTCTGAGGTGGACCGCTGGCGCGTTGCTATTTTGAGAAACTATAATAGATTTTTCATTAGACCAAAACAAACCCGGTCTAAACTCCAGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36752
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000109130 | Essential Splice Site | 1264 | 1459 | 20 | 24 |
Genomic Location (Zv9):
Chromosome 19 (position 3301869)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 2903301 |
GRCz11 | 19 | 2797821 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCTCTGGTGAAGCGAGGACTCAGACAGCTGCAGTGGGGCTCAGACACAGG[T/C]CAGCCATGGATGAAGCCATGCACGCCACACACAACCCTCCAAACGAACAT
Long Flanking Sequence:
GTCTACAGAACAAACCATTGTTATACAATAACTTGGCTAATTACCCTAACCTGCCTAGTTAACCTAATTAACCTAGTTAAGCCTTTAAATGTCACTTTAAGCTGAATAGAAGTGTCTTGAAGAATATCTAGTCAAATATTATTTACTGTCATCATGACAAAGATAAGTTATTAGAGATGAGTTATTGAAACTATCATGATTAGAAATGTGTTGGAAAAAAATCTGCTCTGTTTGACAGAAATTGGGGAAAAAAAATAAACATGGGGGCTAATAATTCTGATTTCAACTGTATGTAATGTATATCTAATAGTGTATTTGTGTGCATCTAATAGATGTGCTCCAGTGGCGGTGGTGTTGGCGCGCAGGCGTATGGCTGGTGAACGCGTGCAGTCTTGTGACGCTCTGGAGTTTGACGTGGTTGAGCTGGCGGACACTATGGGTTGGCAGCTCCCTCTGGTGAAGCGAGGACTCAGACAGCTGCAGTGGGGCTCAGACACAGG[T/C]CAGCCATGGATGAAGCCATGCACGCCACACACAACCCTCCAAACGAACATCTAACAAGCTAGCTGATTGATTTTGACCTTTTAGGGATTACATATTGTTATGCTCCCTTAATTATCATTTCAAAAACATGTGTGTCCTCTTGTTTTATTATGTTGTGTTATATTTGATTCAGTTCTGCCATCTTTACACTCTTCTGCTGTTCTGGTCAGGATCGTATGGAGGAACGGGTCGCAGTGGTGTTCATGTGGAGTTCTCAGCTCTGTCCTTCTACTTCCGCTCGTACGGTGACCTGACGGCAGATGAGCTGGACGCTGTGTGTGCGTTTCTACACGGCAGAGTGAAAACACAGGAGAACACGCAACTCTACCAGCTCAAAACCTGCTTCAGAGCCTTCCGCAGGTCAGAGACACACACTCCACATCCATGACTCTCACTAGTGTTTCTTCAGCTTCATACACAAATAATATTATAATATTCATTCTCATGGCCGGAACAGTCAG
Associated Phenotype:
Not determined