Busch Lab

ZMP

ENSDARG00000091607

Ensembl ID:
ENSDARG00000091607
Human Orthologue:
RP11-428C6.1
Human Description:
Rho-guanine nucleotide exchange factor [Source:UniProtKB/Swiss-Prot;Acc:Q8N1W1]
Mouse Orthologue:
Rgnef
Mouse Description:
Rho-guanine nucleotide exchange factor Gene [Source:MGI Symbol;Acc:MGI:1346016]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa12818 Nonsense Available for shipment Available now
sa15457 Nonsense Available for shipment Available now
sa6388 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa12818
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000128436 Nonsense 142 315 4 8
ENSDART00000128436 Nonsense 142 315 4 8
Genomic Location (Zv9):
Chromosome 15 (position 34306583)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 35152359
GRCz11 15 35010328
KASP Assay ID:
2260-8821.1 (used for ordering genotyping assays)
KASP Sequence:
GTCTGAASCYAACTMTCTTTYATTCCCAGTGGTGAAGCTGGCTGTCACCT[T/A]GCTGTCTTGGCTTTTCCCGTGCATATTGTCACCAAGTACCCCTGACAGCT
Long Flanking Sequence:
GTGGCGACCCCTGATTAATAAAGGCACTAAGCTGAAAGGAAAATGAATGAATGAATTGAACTCTTCATATATCTGTGTGTATTTTAGTCTTCCAGATGACCAAACCAAGAAGAATGAGGGGGAAATTAAAGTCAAGAAGATACAGAAACTGCAAGGTATACATCCATACATCACTTTGTCCGTGGCTTTATCATTCCTTGTGTCTGATTTCTTGGTTGTGTCTGCATTTAGAGGCGCTGTTTTCACTGGACCTGCAGGTGTGCTCAGTCATCGAGGAGAAGTTAAGGATCTGCAGAGGCACTGGTGGTAGATGGAATCTGGCTAGCTGTCGCCTTCTCGTTCAACCCCATCCTGAAAACACCCCTCAGTGTGTCACATTACTGTCTGACGCACAGGAAGAGGGTAAAAACAATCTCCTTTCACCTCTGCAGACACATATTAATGCTGTTTGTCTGAAGCCAACTCTCTTTCATTCCCAGTGGTGAAGCTGGCTGTCACCT[T/A]GCTGTCTTGGCTTTTCCCGTGCATATTGTCACCAAGTACCCCTGACAGCTTTAGAGAGGAAAGAGGAAACTGTGAGTAATACCTTTACACCCAGATTCATATATGAGCAATATCACACTCGTAGCAGTGTGATATGGCTGAATATTGGCACTGTTGGGAGGTGTTTGTTGGCTAGAGACTGCAGGCAGAGTGCCTTAGTGCCCCCCACCAGTGCCAATATAAGTCATATCGCACTGCTACGAGTGTGATAGTGCATTTACACAACAGTTCAACAGCATAATTGTGTGTATGAAAAAGAAAATCAAACGCGGAGAGTCTCAGAAACCCTTTTGTATGAGGAACTACTTTCTTCTGCCATTCATTCACATCTGAAGTTGACGTCAGAATAGCAGAAACCTACGTGTCTATGTGATGACAAATAAGATGATTTTGCTCAAATTTTAAGAGTATAAGGCTGAATGGCATTAATTGCCATCAATCTACAGAGATCTCCCAGTATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15457
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000128436 Nonsense 142 315 4 8
ENSDART00000128436 Nonsense 142 315 4 8
Genomic Location (Zv9):
Chromosome 15 (position 34306583)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 35152359
GRCz11 15 35010328
KASP Assay ID:
2260-8821.1 (used for ordering genotyping assays)
KASP Sequence:
GTCTGAASCCAACTMTCTTTYATTCCCAGTGGTGAAGCTGGCTGTCACCT[T/A]GCTGTCTTGGCTTTTCCCGTGCATATTGTCACCAAGTACCCCTGACAGCT
Long Flanking Sequence:
GTGGCGACCCCTGATTAATAAAGGCACTAAGCTGAAAGGAAAATGAATGAATGAATTGAACTCTTCATATATCTGTGTGTATTTTAGTCTTCCAGATGACCAAACCAAGAAGAATGAGGGGGAAATTAAAGTCAAGAAGATACAGAAACTGCAAGGTATACATCCATACATCACTTTGTCCGTGGCTTTATCATTCCTTGTGTCTGATTTCTTGGTTGTGTCTGCATTTAGAGGCGCTGTTTTCACTGGACCTGCAGGTGTGCTCAGTCATCGAGGAGAAGTTAAGGATCTGCAGAGGCACTGGTGGTAGATGGAATCTGGCTAGCTGTCGCCTTCTCGTTCAACCCCATCCTGAAAACACCCCTCAGTGTGTCACATTACTGTCTGACGCACAGGAAGAGGGTAAAAACAATCTCCTTTCACCTCTGCAGACACATATTAATGCTGTTTGTCTGAAGCCAACTCTCTTTCATTCCCAGTGGTGAAGCTGGCTGTCACCT[T/A]GCTGTCTTGGCTTTTCCCGTGCATATTGTCACCAAGTACCCCTGACAGCTTTAGAGAGGAAAGAGGAAACTGTGAGTAATACCTTTACACCCAGATTCATATATGAGCAATATCACACTCGTAGCAGTGTGATATGGCTGAATATTGGCACTGTTGGGAGGTGTTTGTTGGCTAGAGACTGCAGGCAGAGTGCCTTAGTGCCCCCCACCAGTGCCAATATAAGTCATATCGCACTGCTACGAGTGTGATAGTGCATTTACACAACAGTTCAACAGCATAATTGTGTGTATGAAAAAGAAAATCAAACGCGGAGAGTCTCAGAAACCCTTTTGTATGAGGAACTACTTTCTTCTGCCATTCATTCACATCTGAAGTTGACGTCAGAATAGCAGAAACCTACGTGTCTATGTGATGACAAATAAGATGATTTTGCTCAAATTTTAAGAGTATAAGGCTGAATGGCATTAATTGCCATCAATCTACAGAGATCTCCCAGTATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6388
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000128436 Essential Splice Site 166 315 4 8
Genomic Location (Zv9):
Chromosome 15 (position 34306510)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 35152286
GRCz11 15 35010255
KASP Assay ID:
554-5334.1 (used for ordering genotyping assays)
KASP Sequence:
ATATTGTCACCAAGTACCCCTGACAGCTTTAGAGAGGAAAGAGGAAACTG[T/C]GAGTAATACCTTTACACCMAGAWTCATATATGAGCAATATCACACTCGTA
Long Flanking Sequence:
TGTGTGTATTTTAGTCTTCCAGATGACCAAACCAAGAAGAATGAGGGGGAAATTAAAGTCAAGAAGATACAGAAACTGCAAGGTATACATCCATACATCACTTTGTCCGTGGCTTTATCATTCCTTGTGTCTGATTTCTTGGTTGTGTCTGCATTTAGAGGCGCTGTTTTCACTGGACCTGCAGGTGTGCTCAGTCATCGAGGAGAAGTTAAGGATCTGCAGAGGCACTGGTGGTAGATGGAATCTGGCTAGCTGTCGCCTTCTCGTTCAACCCCATCCTGAAAACACCCCTCAGTGTGTCACATTACTGTCTGACGCACAGGAAGAGGGTAAAAACAATCTCCTTTCACCTCTGCAGACACATATTAATGCTGTTTGTCTGAAGCCAACTCTCTTTCATTCCCAGTGGTGAAGCTGGCTGTCACCTTGCTGTCTTGGCTTTTCCCGTGCATATTGTCACCAAGTACCCCTGACAGCTTTAGAGAGGAAAGAGGAAACTG[T/C]GAGTAATACCTTTACACCCAGATTCATATATGAGCAATATCACACTCGTAGCAGTGTGATATGGCTGAATATTGGCACTGTTGGGAGGTGTTTGTTGGCTAGAGACTGCAGGCAGAGTGCCTTAGTGCCCCCCACCAGTGCCAATATAAGTCATATCGCACTGCTACGAGTGTGATAGTGCATTTACACAACAGTTCAACAGCATAATTGTGTGTATGAAAAAGAAAATCAAACGCGGAGAGTCTCAGAAACCCTTTTGTATGAGGAACTACTTTCTTCTGCCATTCATTCACATCTGAAGTTGACGTCAGAATAGCAGAAACCTACGTGTCTATGTGATGACAAATAAGATGATTTTGCTCAAATTTTAAGAGTATAAGGCTGAATGGCATTAATTGCCATCAATCTACAGAGATCTCCCAGTATTTCCCAGGAAAAATATAACCCTGAAAAAGCAAAGCAATCACTATTAGATATTTTTTGGCATAAATACAGCAATA
Associated Phenotype:
Not determined