Busch Lab

ZMP

LOC100330048

Ensembl ID:
ENSDARG00000075352
Human Orthologue:
FAM5C
Human Description:
family with sequence similarity 5, member C [Source:HGNC Symbol;Acc:22393]
Mouse Orthologue:
Fam5c
Mouse Description:
family with sequence similarity 5, member C Gene [Source:MGI Symbol;Acc:MGI:2443035]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa39765 Nonsense Mutation detected in F1 DNA Not yet available
sa25756 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa38311 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa39765
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112227 Nonsense 238 768 4 7
Genomic Location (Zv9):
Chromosome 2 (position 6494362)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 6877967
GRCz11 2 6789838
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGACAACCTCGACTCTGTCAGCTCTGTTCTGGTACACAGCCACGAGAAC[A/T]AAGTTCAGTTGCAAGGTAAAAAAAAAAAAAAAAAAAAAACCCTCATCCCG
Long Flanking Sequence:
AAAAATTCCAGAGCATCCTTGCCTGTGTTGAACTTACCGGTAAAGTCGTTCCAGAAATTTTCTCAATATTTACCGGTATCCCTGTGTGAAAGGGACTACTGAGACCCCCTGCCGCCAAATTTCTAATGGTTTTGTTTCAATGCAAGTTTTTGTGAATAACATTACATCTCTTCTCGCAGCCGTCTCTCTCATAATCTCTAAGTGAGCCAATGATTTTAACCATGACTGTAGAATCTGACAGAATGCATCAATACACGTTCCACCCTGTCTTCCCGCTTCAGAGGGTATTACATCATCACATTGAATAACTCTGTTTGTTTTGAGGCACTTCAGGGGATCTTTACCAATCGCTTCAATCAATTGATGAAACAAAACTAATAATTGCTTATATTGTGTCGCTCTCTCTTCAGGTAACCGAGACCAGGACCGGCCCTTTGGGCTGCAGTAACTATGACAACCTCGACTCTGTCAGCTCTGTTCTGGTACACAGCCACGAGAAC[A/T]AAGTTCAGTTGCAAGGTAAAAAAAAAAAAAAAAAAAAAACCCTCATCCCGACACGACTCTGAAGTGTTTCCTGAGGTCGCGCTTGTGTGATGAGCCATGGCCATTACACGATCAAAGCCGTTGTCTAATTAGCCTGCTAATTATACACAAATCTTGAATGCTGAGAGTTGACTGTGCCTGCTAATTAGATTAAAGGATTTAGCATCTGACAAAAAGCAGGAACCACCGACTTCCAGCCATGGAAAAAGAAGAGGCATGTGTGGTCTCTCTCTCACCCTCCTGTGTTTCTCTTTCCAGGACTTCAAGCTATTCTGCCTGCTTATTTAAGGAGCGGCTTTGTTCAGGCCGCCTTAGGCTACATAGGCTGCAATGCTGAAGGCCAATTTGTGTGCAAAGACAATGATTGCTGGTGCCAATGCGCTGCAGAGTTTCCTCAGTGTAACTGCCCCGAGGCGGATATCCACTCCCAGGAAAGTTACCTGGAGCGCATGAGGGACGCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25756
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
ENSDART00000112227 Essential Splice Site 322 768 6 7
Genomic Location (Zv9):
Chromosome 2 (position 6500262)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 6883867
GRCz11 2 6795738
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATGAAAATCTTCGCAAAAACACTGCTAATTCAGATCTCCCTTTTCATCA[G/A]ATGAGTTCCAGAGTTTCATGGGTAAACTACCAACACAGAGCGCTCTTAAT
Long Flanking Sequence:
GGTCTGTGCAGTCGTTGGCAGCTCTTTCCATCAGAGAGGAACAGAAAGAGTGTAAGTGCTGAAGAGTGACGCTGTGCCTCTTTGCAAGGAAAATACAGGCCTTCATCTTTCAGTGACCTGAGCTGACAGGAGTGAGCATACAAGATACATTTGTTGCAGAGAAAGCTCTACTTAAAGTTTTTTTTTTTTTTTAAATATTAAGATTTCTGAGCCGTGTTCAATAATATGTCTTATAGTACGCGAAAAAGTGAATTGCTATGAAAATTGCTAACTCGTATGATTTTGTATGACTCCTATGGTTCCCACTTAGCCACCGTGACGCCCGTTTATGTATACTGTAAACAAATCTTATTTAATGTTGGTTAACTAATGTTAGCTAATGGGAACTTGTTGTGAAGTGTTGCTAATACCATGTATGCTAATGCTAGTAGGCTAATGTGGGAAATGTATTATGAAAATCTTCGCAAAAACACTGCTAATTCAGATCTCCCTTTTCATCA[G/A]ATGAGTTCCAGAGTTTCATGGGTAAACTACCAACACAGAGCGCTCTTAATTCATCAAGAATCCAGCAGTTGTGGAGGACAGACAGCGCTCTACAGCAACGCTACAGGCAGCTAGAAAGCCGCATTAGCCTCCTGCTTTCCAAGACCCGGCGAACTGCTAACAAGCTCTTCAGCCTCAGCAAGAGATGCCGCACGCAGCCCAAAATAGTCTCTCTAAGGGAAAGGTAAGGTTTATTTATAGGCACACATTAAACTTGCGAATCCTAATTTTTTTTTTGTATAATTATGCAAGTTATGCAAATGAAGCTACATGAAAAGCTGCAAAGTTTTAGTCTATGAGGAATTCTGAATGTTTGTGCATCATTAAACTCTGTGGAAGTGTGAGGTTCATGGGGTTTGAGCTGAAACTGTGGGGTTTTTTTTCAAGCCATCCCATAGGAATGAAAAATCACAAATAAAGCATCTCAGTTGTTTTACATGAAGAGTAGCCTGGTTTCCACC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38311
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112227 Nonsense 526 768 7 7
Genomic Location (Zv9):
Chromosome 2 (position 6509164)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 6892769
GRCz11 2 6804640
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATCACAACACATGCAATTTTTGTCAGCAACGATGTGCGCCTCAACGTTT[G/A]GTTTGACCCATCCTGGAGAAAAAGGATGCTACTAACACTAAAAAGCAACA
Long Flanking Sequence:
TTTTTTAGTATTGTTAACTTTTATAACCAATGAACAGAGCAAGTCAGGGAATCTTCCCACCCCTAATGCATACATGACAAACCATAAACCTTATTTTCCCTTTTTTTTTTCCAGGCCTTTGAGCTACTGGCTGCAGTTCACCCTGTCCATCCTGTACTGCAGTGAAAACAACCAACTCGGATTTTACACAGAGGAATTACGGACTTGCGCATGTCCTTACGAGAATCCCTCTTGCCAGAGTGTCATCCCCTGTGAGGTGGGTGATGGCCACCGTTGCGCTTCTTGCTCCGTGGACAACCGTACTCGCTGCTCCAGCTGCAACCCAGGTTATGTTCTCAGTCATGGGGTTTGTAAATACGCAGTACCCAACCCTACCGACCACTACCTGGGATTTGAGACAGATCTACAAGACCTGGAGCTCCGCTACCTACTGCAACACAGAGACGGCCGCATCACAACACATGCAATTTTTGTCAGCAACGATGTGCGCCTCAACGTTT[G/A]GTTTGACCCATCCTGGAGAAAAAGGATGCTACTAACACTAAAAAGCAACAAGTTCAAATCTAGTCGTGTCCACATGCTCCTGGGCGTCTCGGTGCAGTTCTGCATGACCAAGAACTCCACCATTGAGCCTGTGTTTTCTGTCTATGTCAACCCTTTTGGAGGGAGCCATTCAGAAAGCTGGACCATGCCAATCAATCAAAATAGCTACCCAGACTGGGAAAAAACAAAGCTGGACATTCCTTTGGATTGCTTCAACTGGACCTTGACTTTAGGGAACCGGTGGAAGAGCTTTTTCGAGACCGTTCACTTCTACCTGAGAGGTCGCATTCGGACAGAGTCCTCTCAAGGGAATGAAACGGTCTACGTTGAGCCCCTAGAAGCAACAGATGCCTCTCAGAACTTTGGATACATGAAGATCAACAGCATGCAGCTGTTTGGTTACAGCATGCACTTTGACCCGGAGGCTATCCAGGACCTGATCCTGCAGTTGGACTATCCGT
Associated Phenotype:
Not determined