Busch Lab

ZMP

znf516

Ensembl ID:
ENSDARG00000070809
ZFIN ID:
ZDB-GENE-060503-194
Description:
zinc finger protein 516 [Source:RefSeq peptide;Acc:NP_001153141]
Human Orthologue:
ZNF516
Human Description:
zinc finger protein 516 [Source:HGNC Symbol;Acc:28990]
Mouse Orthologue:
Zfp516
Mouse Description:
zinc finger protein 516 Gene [Source:MGI Symbol;Acc:MGI:2443957]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa43267 Nonsense Mutation detected in F1 DNA Not yet available
sa12406 Essential Splice Site Available for shipment Available now
sa45669 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa15699 Nonsense Available for shipment Available now
sa39243 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa43267
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000076716 Nonsense 426 1045 1 10
ENSDART00000104279 Nonsense 428 1084 2 5
Genomic Location (Zv9):
Chromosome 19 (position 22197609)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 22130989
GRCz11 19 21715312
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCAGGGCTGGGAAGAAAGGTTAGCTGATGCGGATGTAGCATACGACAGG[G/T]AAAAAGGCGAGTATGTCTTACTCAGACAGGACAAGCGGAAGAAATCACTT
Long Flanking Sequence:
TCTGTGGACGTCGTTTTCGTGAGCCCTGGTTCCTACGTAGTCACATGAAGACCCACAACACCAAGGTAAAACCAAGGAGTAACTCTTACCTTCCGGCCACTGTCAACGAGGTGGCGCAGGACGAGTCCAACTTGGTGAATGAAGTGTGTCTGTATGAACTCTGTGCCAAGTGTGGTAACTTCTTCCATGACCGCAAAAGCTTGCAATTGCATGAGCAGGTTCACAAAAATATTGAGCAGCCTCTTAAAAACAAAAACTGCAATGAAAACAACTTTCCATCTGTCACCAAGACAAGCTTCCTGCAATGCCTAAACTTGAAACCTGCAGGAAATATTGAGAACCCTAGTGAGGGAACCATAGGGAAAAGAATCCCAGAGCTTGATCCTGTAAGCAGCTACCAAGCTTGGCAACTGGCAACAAGAGGCAAATTGGTGGAGGTAACAGAGAGAAGCCAGGGCTGGGAAGAAAGGTTAGCTGATGCGGATGTAGCATACGACAGG[G/T]AAAAAGGCGAGTATGTCTTACTCAGACAGGACAAGCGGAAGAAATCACTTGATTCCACTGTGAGTATCCCAACCAAGAAACGGAGAGGGGCTGTTACCCAAGGCTGCACTCCAGATCAGCACAGCAATGGAGAAAAGAACAGCCATGTTTCAACAGGTGAGCGAAGCCCTGAAAATCTGAGTGACTCTGAGTATCGCCCTACTTCTCGCCCTAGCCGTAAAAATTCCCAGAAAACTTCAGAGTGCTTGGAGTGTGGAAAGGGCTTCCGCACACAGCAACAGATGGTGATCCACATGCTCATCAGACATGGTGGCTTGGGTGAAACCATTGGTGGAAATGGACTGTTCCGCAAAACAACGTCTAGCCCATCTAAAACAGGGGAATCTGCAGGACACTTCAGGGATCAAAGACGGGCTGGGTTCTTGGGGGACACAGGTAAGGGAATCCCTTCTTGTTTTTACAAATATAGAAAACTCAAAGATTGAGTAATCTTACACAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12406
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000076716 Essential Splice Site 456 1045 None 10
ENSDART00000104279 None 479 1084 2 5
Genomic Location (Zv9):
Chromosome 19 (position 22197454)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 22130834
GRCz11 19 21715157
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGCACTCCAGATCAGCACAGCAATGGAGAAAAGAACAGCCATGTTTCAAC[A/T]GGTGAGCGAAGCCCTGAAAATCTGAGTGACTCTGAGTATCGCCCTACTTC
Long Flanking Sequence:
GAACTCTGTGCCAAGTGTGGTAACTTCTTCCATGACCGCAAAAGCTTGCAATTGCATGAGCAGGTTCACAAAAATATTGAGCAGCCTCTTAAAAACAAAAACTGCAATGAAAACAACTTTCCATCTGTCACCAAGACAAGCTTCCTGCAATGCCTAAACTTGAAACCTGCAGGAAATATTGAGAACCCTAGTGAGGGAACCATAGGGAAAAGAATCCCAGAGCTTGATCCTGTAAGCAGCTACCAAGCTTGGCAACTGGCAACAAGAGGCAAATTGGTGGAGGTAACAGAGAGAAGCCAGGGCTGGGAAGAAAGGTTAGCTGATGCGGATGTAGCATACGACAGGGAAAAAGGCGAGTATGTCTTACTCAGACAGGACAAGCGGAAGAAATCACTTGATTCCACTGTGAGTATCCCAACCAAGAAACGGAGAGGGGCTGTTACCCAAGGCTGCACTCCAGATCAGCACAGCAATGGAGAAAAGAACAGCCATGTTTCAAC[A/T]GGTGAGCGAAGCCCTGAAAATCTGAGTGACTCTGAGTATCGCCCTACTTCTCGCCCTAGCCGTAAAAATTCCCAGAAAACTTCAGAGTGCTTGGAGTGTGGAAAGGGCTTCCGCACACAGCAACAGATGGTGATCCACATGCTCATCAGACATGGTGGCTTGGGTGAAACCATTGGTGGAAATGGACTGTTCCGCAAAACAACGTCTAGCCCATCTAAAACAGGGGAATCTGCAGGACACTTCAGGGATCAAAGACGGGCTGGGTTCTTGGGGGACACAGGTAAGGGAATCCCTTCTTGTTTTTACAAATATAGAAAACTCAAAGATTGAGTAATCTTACACAAATTTGACAAAAACTTCAAGTGAAACTTGTTTGCATATCATAAACTATCATTAAGCTTTCAACAAACACTTTGAGCAGGCAGTATCATTAATGAAATGCTGTGTGGATGCTCAAAATCTGAAAGGGGTTTTATTGTTACATTGGGCAGATGTTTAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45669
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000076716 Essential Splice Site 682 1045 7 10
ENSDART00000104279 None 662 1084 3 5
Genomic Location (Zv9):
Chromosome 19 (position 22194386)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 22127766
GRCz11 19 21712089
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCACCTCAACTCACCTGGAGAGGGCAGCACTGAGTGACGCCGCTTTAAA[G/A]ACAGAGGAAGAAAAGAGCAAGGGTTTGGAGGAAAGCAGCTCCACAGATAA
Long Flanking Sequence:
TTGTTGAATAAAAATTTGTTAATATGTTTCTCTATTTAAGATCTAAAAACGAAATTAGAAAGTTTTACTGAAATACAGCTACAGTACATGGGTATGTGGTGCCATCTTGTGGTGAAACTCTGGAATTGTTTTGAATGTCAATGCTCACTGTTATTAAAATTAGCTCATTTTAATACATTCAGAGATAATTCACTACTGTTCTGTGTTTTTTTTGTGTGTGTTTTTATGACAGATAAAAAGCCATACACCTGTGAGCACTGTGACTTTTGCACCTCGGAGCCCTCAGCCATCGCTGCCCATATCCAAACGCATCAATCGGCGGTCAGGGACTGGGGCCAGAGGAGTGATGCCTTAACCAGCTCACTCAGCCAAAGCCAAACTCACCAAACCAATCACACAGGCTTCCCAAGGCTGAGAAATGCTCTTCTCCAACAGCCCTACTGGCCCTACACCACCTCAACTCACCTGGAGAGGGCAGCACTGAGTGACGCCGCTTTAAA[G/A]ACAGAGGAAGAAAAGAGCAAGGGTTTGGAGGAAAGCAGCTCCACAGATAAAGCGGAGTCTAATCTGCTTAATCTCTCAGTGGACGTGGATAACAAAAAAGAAGTTTCGTCCATTCTTTTGAACAATTTGGTTAGACACCAGTGCCCTTATTGCTCCTATGCAACACACTACCCAGAAGTTCTCTGGATCCACCAACGAATCGCACACAAAATTGACAGCACTACGTTGGTGCCGAAGTGGGCCCCAAAAAATGGCCTTAAGGGGCCCAAAACGCTTCTTGATTTCAAGAGACGCACCGGGCCACCTCCATTTCTGGAGGGTAAGGACTGCCCGTCTCTGCCTCAGATGAGAAGTTACAGAACCAGTCCACCTGATTGCAGCCCTGGAGGGACGAAGAAATCAAAACCTCTGACAAGTACTGTAGAGTCCAGCTCTTCGCAAAACAAGAGCTGGCACACAGCCACAGCGCCAGGGGCATCATCGCACTCGTCCAAACACAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15699
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000076716 Nonsense 848 1045 7 10
ENSDART00000104279 Nonsense 829 1084 3 5
Genomic Location (Zv9):
Chromosome 19 (position 22193887)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 22127267
GRCz11 19 21711590
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTGGCACACAGCCRCAGCGCCAGGGGCAKCATCGCACTCGTCCAAACAC[A/T]AAACCAGCAAGTCCAGGACAGATGAGTTGGCAGGYAGTAAACAYAAAACA
Long Flanking Sequence:
AGACAGAGGAAGAAAAGAGCAAGGGTTTGGAGGAAAGCAGCTCCACAGATAAAGCGGAGTCTAATCTGCTTAATCTCTCAGTGGACGTGGATAACAAAAAAGAAGTTTCGTCCATTCTTTTGAACAATTTGGTTAGACACCAGTGCCCTTATTGCTCCTATGCAACACACTACCCAGAAGTTCTCTGGATCCACCAACGAATCGCACACAAAATTGACAGCACTACGTTGGTGCCGAAGTGGGCCCCAAAAAATGGCCTTAAGGGGCCCAAAACGCTTCTTGATTTCAAGAGACGCACCGGGCCACCTCCATTTCTGGAGGGTAAGGACTGCCCGTCTCTGCCTCAGATGAGAAGTTACAGAACCAGTCCACCTGATTGCAGCCCTGGAGGGACGAAGAAATCAAAACCTCTGACAAGTACTGTAGAGTCCAGCTCTTCGCAAAACAAGAGCTGGCACACAGCCACAGCGCCAGGGGCATCATCGCACTCGTCCAAACAC[A/T]AAACCAGCAAGTCCAGGACAGATGAGTTGGCAGGCAGTAAACACAAAACAGACATCCATCAAAACAACTCCTCACGGCCCATGGCAAGTCCACAGAAGACTGGAAACCCAAAGACAGGTAGCCGAGTGGTGGAGAGTAGTTTGCTACCTCAAGAGGGACTTCATTTTATGCTCTCTAGCAAACACAACCTCTCGGATCAGAGGAGCTCCAAAGCTCACGCTCCTCAGACCCCCAGTAAGTCTGATTCTCAAGCTCAGGATACACCGTCTGTGGCTGGGTACGACCCCTGGAACAGACTGGGCCTGAGTGGCCCGTCACCTCACTCTCAGTCCAAGAGACAGTCAACAGCCGATGGTGCAGAAGGTGTGACGGACATCCTGAGTTTTTTAAAGAACTGTAACCCTCACGATCTTGCTGCCCTCTACCACCACTGGGGCTACAGTAGTGCCATGACAGAGCAAGCAGGTAAAATATTTCAGTATTATATAATGCTGTTTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39243
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000076716 Nonsense 933 1045 7 10
ENSDART00000104279 Nonsense 914 1084 3 5
Genomic Location (Zv9):
Chromosome 19 (position 22193632)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 22127012
GRCz11 19 21711335
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTCCAAAGCTCACGCTCCTCAGACCCCCAGTAAGTCTGATTCTCAAGCT[C/T]AGGATACACCGTCTGTGGCTGGGTACGACCCCTGGAACAGACTGGGCCTG
Long Flanking Sequence:
GCCTTAAGGGGCCCAAAACGCTTCTTGATTTCAAGAGACGCACCGGGCCACCTCCATTTCTGGAGGGTAAGGACTGCCCGTCTCTGCCTCAGATGAGAAGTTACAGAACCAGTCCACCTGATTGCAGCCCTGGAGGGACGAAGAAATCAAAACCTCTGACAAGTACTGTAGAGTCCAGCTCTTCGCAAAACAAGAGCTGGCACACAGCCACAGCGCCAGGGGCATCATCGCACTCGTCCAAACACAAAACCAGCAAGTCCAGGACAGATGAGTTGGCAGGCAGTAAACACAAAACAGACATCCATCAAAACAACTCCTCACGGCCCATGGCAAGTCCACAGAAGACTGGAAACCCAAAGACAGGTAGCCGAGTGGTGGAGAGTAGTTTGCTACCTCAAGAGGGACTTCATTTTATGCTCTCTAGCAAACACAACCTCTCGGATCAGAGGAGCTCCAAAGCTCACGCTCCTCAGACCCCCAGTAAGTCTGATTCTCAAGCT[C/T]AGGATACACCGTCTGTGGCTGGGTACGACCCCTGGAACAGACTGGGCCTGAGTGGCCCGTCACCTCACTCTCAGTCCAAGAGACAGTCAACAGCCGATGGTGCAGAAGGTGTGACGGACATCCTGAGTTTTTTAAAGAACTGTAACCCTCACGATCTTGCTGCCCTCTACCACCACTGGGGCTACAGTAGTGCCATGACAGAGCAAGCAGGTAAAATATTTCAGTATTATATAATGCTGTTTTTTTTTTTAATCCAGTAAGCTTTTATTTTACAATGAATAATATACATTTTATAGTCTAATGAAATGACACATCAACCTAATATTGGCCCTGTTTATACCTTTTATTTATTGTTTACCTTGTATTATTTCTTGTGTGCTGTTGGGGATGTTTTCGTCCACTCTGGGGTGATTTTTAGTCTTAATTTGGTCACAACTTTTTTCGGATTAGCAAATGGAATGATTTTAGTTTTTTATTTGGAAACATTTTTTAGGAAAATG
Associated Phenotype:
Not determined