Busch Lab

ZMP

LOC563643

Ensembl ID:
ENSDARG00000079067
Human Orthologue:
MMS19
Human Description:
MMS19 nucleotide excision repair homolog (S. cerevisiae) [Source:HGNC Symbol;Acc:13824]
Mouse Orthologue:
Mms19
Mouse Description:
MMS19 (MET18 S. cerevisiae) Gene [Source:MGI Symbol;Acc:MGI:1919449]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa35180 Nonsense Mutation detected in F1 DNA Not yet available
sa35181 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa35180
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110766 Nonsense 317 1043 12 32
Genomic Location (Zv9):
Chromosome 12 (position 3399651)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 2786651
GRCz11 12 2821384
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTGTAGGTTTTCCAGACGGCCAGTGAGAGGGTGGAATCGGCTGGTCTTT[C/A]GGCTCTGAGCTCACTAGTGTCCTGTCTATCCCGTTCTGTGCTTAATTCTG
Long Flanking Sequence:
TAGTGTTTTAGTGCAAATATTTGAATGATTAAACATAAGCACAATGAGAATGAAATCAGAATGAGAATTGTGGAGACATGAACACTGCTTTAGATTTATTTTTTTAGATGGGCATGTTATATTTAGCTTGGTTATATTTTGTGTTTTTTGAACTAGATAATAAGATAAGCAATATTGAATTTAAAATATATATATTTATTACTATAATATTACTTTAAAAATAGTAATATGTTATGATATTAAAAAAATTGTGGACCTAAAAGAAAGTAAATACTTCCAAGATAAAATGCTAAATGTTTTCTTTTTGTGTTGCAGATTTAAACATACCTTTTTTTGTGGGAAAAATGGGTCTTTTATAGTAATTAATAGTTATTTTTTGTATTTATTTTACAAAGCATTTCTAATATATGTAGCTATTGATTGTATTCGTTAGCTTATTAGATTTTTGTGTGTGTAGGTTTTCCAGACGGCCAGTGAGAGGGTGGAATCGGCTGGTCTTT[C/A]GGCTCTGAGCTCACTAGTGTCCTGTCTATCCCGTTCTGTGCTTAATTCTGACTCGGAGGATTCACTGCAAGTCTTTCTGAACCTTGTCCTTAAAGGTGTGTGTGTGTGTGCGTGCGTGTGTGTATGTATATATACATACAATTAATTTATTTATGAAGTAATCAACAAATAAAGGCTGATTTATACTTCTACGTCAAGCACACGCGTATACTCCGGCGAAGCTTTCGCATAGTTGCAGATCTCTTGCCATGGCTTACGCCAATGCTGACGTGCACCTCTCAAAAAATTTAACTACTCATCACAACGGCATGTAGAGCAAGCTCTATGATTGGTCAACTTGGGAACGGTGATGAGCATGGGCGGTGCTAAGAGCCACAAGCCCGATGAAAATTGTTTACTAGTGTGGAGTCCTGTGAAGTAGTGATGGGAAGTTCGGATCATTTTACTGACTCGGCTCTTTGATTCTCGTTCATCGAGATGAACGAATCTTTTTTCCGAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35181
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
ENSDART00000110766 Nonsense 395 1043 13 32
Genomic Location (Zv9):
Chromosome 12 (position 3401262)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 2788262
GRCz11 12 2822995
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATAGAGCCAGTCTAATCGGGACGCAGGCCGTCATTCCTGCCTTGCTGGAC[C/T]AATACAATAACAGGACACAGGTACAGTCTTGTGCGTACACGCTCAGTGCT
Long Flanking Sequence:
TTGTGTGTACCTTAATATTAAAGTTGTTGCACATCAGCCGGTTCCCGCCTCTGAATGAGTGAGTTTTAGCTACTTCTACATTAAGGTAGCATTCAGAAAAAAAATCAAAACACCAGCAGAGAAACTCAACACAGAGGAACATAACCCGCTGCCAGCCTGGTGTTTCAGAAGTGTTATTGTGGAGCGACACAAATACGTGCAAGACAGTCGCTGTGGGTCACACTGATCACTCCACGCAGAAGTATAAACCAGCCTTAACAGGTTTCATTCAAAACAACATTTGTGTTTAGAAGGTTAACCGAACATTATGTTTGCAACATGAAAGCAACTAAGTGATGATCGAAATGAACTCTCCCTTCCTGTCAGACTGCCAGCATCATCTCTGTGAGCCGGACCTGAAGCTGGTGTGGCCGAGCGCTAAACTCTTGCAGGCCGCAGCCGGAGCCTCATATAGAGCCAGTCTAATCGGGACGCAGGCCGTCATTCCTGCCTTGCTGGAC[C/T]AATACAATAACAGGACACAGGTACAGTCTTGTGCGTACACGCTCAGTGCTTACATTTACTCAAGTCTTAAGTTAATTTTGAGGAGAATAATAATTGCATTGAAAAATAGGGGTGTCAAAATCGAAATCGATCGAAATTTATGCTCAATTTCGATTATCGAATCAAAAAATAGAATCGTCGATGATGCCACGCCCCCATGTCATGTCAGCTTGGCTGACCAAGCGGGAAAATAACAGGCTTGTTGAAGTGCTTGTTAAACTGTAGACGCAGGAGACCCGTCGACAGAGCTTAAACCCTCTCCTCTTCCAATGAAGTCGCCGGTGTGGAAGCATTTTGGATTTCCAGTGAGTTATGTTGACAATGTTCGTGTTGTCGACAAAAAAAACACAGTTTTGCAAGCTCTGCTATGTACGTATTACGTACGGTTCGTCCGATAGACAAAACCGGCATCGCAATCCTCCGCCCGCCCCTGCTGCAAATCCGCTCGCGAAAAGTACACA
Associated Phenotype:
Not determined