Busch Lab

ZMP

SH3TC1 (2 of 2)

Ensembl ID:
ENSDARG00000077330
Description:
SH3 domain and tetratricopeptide repeats 1 [Source:HGNC Symbol;Acc:26009]
Human Orthologue:
SH3TC1
Human Description:
SH3 domain and tetratricopeptide repeats 1 [Source:HGNC Symbol;Acc:26009]
Mouse Orthologue:
Sh3tc1
Mouse Description:
SH3 domain and tetratricopeptide repeats 1 Gene [Source:MGI Symbol;Acc:MGI:2678949]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa21115 Nonsense Mutation detected in F1 DNA Not yet available
sa34216 Nonsense Mutation detected in F1 DNA Not yet available
sa34215 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa21114 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa21115
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110328 Nonsense 368 853 2 8
ENSDART00000110758 Nonsense 108 593 2 8
Genomic Location (Zv9):
Chromosome 7 (position 62510655)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 61557853
GRCz11 7 61868015
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAATCAGACGCCACCACTGCGTTCATCTGGCTGGCATGGCTGTACATCTG[T/A]AACCAGCAGCCTGGCACAGCTCTAGAAGTGCTGGATGCTGTGCTGGCATC
Long Flanking Sequence:
AACCAATTAATTGCAACTAGTTTGATTATTAAAAAAAATATTATATAAGTTGAAATGATTTAGGCATCAACCCAATTTTATTTCACACAGTCACTATTTAACCTTAATAAATTACGTAGTAATATAAAATACAAAAGTCTTAATAAACTTTATCTGTAATATGCTTTTATCTGTTCTCCTCCATAGGTAGGAGTCACCGTGTCCCACTGTCTCTGTGGTGTTTCTTTATTACTGGAAAATGCTCCAGAGCTACATGGAGTGTCCATCCCAACACAAGTGGCTCCATTCCTGACCCGTGCTGCTGCTTTAGCCCCCCTGCACAATGATCCCACACTGGTTCACATCCACGCTCTGTGTTTGTCCTGGCTCTTCCACAGACACAACATGCCTGAAAGAGCTGTTCGCTACATGTGCGCCATCCTGGAACACTCTAGCATGTCCAGCATTGGCAAATCAGACGCCACCACTGCGTTCATCTGGCTGGCATGGCTGTACATCTG[T/A]AACCAGCAGCCTGGCACAGCTCTAGAAGTGCTGGATGCTGTGCTGGCATCACTGCCCGAACACTGCACTACTCATCTGGAAGGTGTGGTTTACAACATGCGGGCTATTTCATACAGACATTCAGCAGATATCCGTCAGGCCGCTGAGAGCTATCAAGCCGCGATTGAGATTTGTGAGGAGTTTGAGGATAGACATAACTGGGCTGTGGCGCTGGCCAATTTTGGATTCATGTGCTTGCAAGTCAAAGCTAAAAGGCTGGCAGAGGAGAACCTGTGTCAGTCAATGGAGCTTTTCTCTGGGCTTGAGGACGAAGGGCATGAACTCAGCTTTATTCTGGTGCTTCTCCAGTTGGGGAGACACTTTATTTCTCAGGGAAACAGCGAGAGTGGGAAGATCTACTATGAATGGGCCCTGTTGATCGCCACTTATATCGATAACATTGAGAGTAAGTATTTATCATAATTGTGGTAGTGAGTATGTGGTTATCATGATTAATCAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34216
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
ENSDART00000110328 Nonsense 428 853 2 8
ENSDART00000110758 Nonsense 168 593 2 8
Genomic Location (Zv9):
Chromosome 7 (position 62510477)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 61557675
GRCz11 7 61867837
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATATCCGTCAGGCCGCTGAGAGCTATCAAGCCGCGATTGAGATTTGTGAG[G/T]AGTTTGAGGATAGACATAACTGGGCTGTGGCGCTGGCCAATTTTGGATTC
Long Flanking Sequence:
CTCCATAGGTAGGAGTCACCGTGTCCCACTGTCTCTGTGGTGTTTCTTTATTACTGGAAAATGCTCCAGAGCTACATGGAGTGTCCATCCCAACACAAGTGGCTCCATTCCTGACCCGTGCTGCTGCTTTAGCCCCCCTGCACAATGATCCCACACTGGTTCACATCCACGCTCTGTGTTTGTCCTGGCTCTTCCACAGACACAACATGCCTGAAAGAGCTGTTCGCTACATGTGCGCCATCCTGGAACACTCTAGCATGTCCAGCATTGGCAAATCAGACGCCACCACTGCGTTCATCTGGCTGGCATGGCTGTACATCTGTAACCAGCAGCCTGGCACAGCTCTAGAAGTGCTGGATGCTGTGCTGGCATCACTGCCCGAACACTGCACTACTCATCTGGAAGGTGTGGTTTACAACATGCGGGCTATTTCATACAGACATTCAGCAGATATCCGTCAGGCCGCTGAGAGCTATCAAGCCGCGATTGAGATTTGTGAG[G/T]AGTTTGAGGATAGACATAACTGGGCTGTGGCGCTGGCCAATTTTGGATTCATGTGCTTGCAAGTCAAAGCTAAAAGGCTGGCAGAGGAGAACCTGTGTCAGTCAATGGAGCTTTTCTCTGGGCTTGAGGACGAAGGGCATGAACTCAGCTTTATTCTGGTGCTTCTCCAGTTGGGGAGACACTTTATTTCTCAGGGAAACAGCGAGAGTGGGAAGATCTACTATGAATGGGCCCTGTTGATCGCCACTTATATCGATAACATTGAGAGTAAGTATTTATCATAATTGTGGTAGTGAGTATGTGGTTATCATGATTAATCAGTTAATAGAACTGCTTGATTAAAGACATATGATGCAAAAATGACTTTTATTAGAGGTTAAATGCAGTTGTGTGGCAAGTGTGTGAATGTAGCTAGCATCTAATGGTAAACATTCATCAATTACATTTTTATATTAAGACTTGATACAAACAATCTGCAGAAACACTTTGATTGACATTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34215
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110328 Essential Splice Site 517 853 3 8
ENSDART00000110758 Essential Splice Site 257 593 3 8
Genomic Location (Zv9):
Chromosome 7 (position 62507663)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 61554861
GRCz11 7 61865023
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTTGCTGGTTGATGCACAAGTACCTTCATATTCTTCTTTATATGCCAAC[A/T]GGCCAACTGCACACCACTCGTCACCTGTGTGAGCTTTATGAAGATGTGTG
Long Flanking Sequence:
TTTGGCTGCACAAAGTTCATAAAGACATCATTAAAAGTGACGTCAGGTGAAATTTTTAGATTTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAGTGTTCAGCTGTGTCTGCCAGCTCAGAGAAGTTGAAAAGAAAACATGCAGCTTGATTCTTGTGAACTGTCTGAGTGCATTTATGTATTTAATTAAAACAATATTATTATTTAAAACTTAACTTTTCTCAAATTGTTACTTATTTGTGTTTTTAATTTCTTCAGCCCCTCCTTTCCATCTGTCTATGTTCTAGTTTGTTCTTCTTTAGTAATGTATAGAGAAATATTGGAATTGTTTGCTGGTTGATGCACAAGTACCTTCATATTCTTCTTTATATGCCAAC[A/T]GGCCAACTGCACACCACTCGTCACCTGTGTGAGCTTTATGAAGATGTGTGTCCAGATGAAGCCCAGTGCATCATCTATAATGAGCACCAGCTCAACCTCCTCCAGCGGATTGGAGACAAAAGTTCAGAAGCAGAGATCCTTGAGAAGATCAGCCAGCTCTACCTCAACCTGGCTACTGAGAAGTGAGACCTGAGGAAATTTTCAAATTAAAGGGAGAATTTAACCAAAAATTTTAATTTACCCACCCTCAAGTGGTTACAAACCTTTAAGTTTTTTTATTATTAAACATAAAATAAGATATTTTGAAGAAAACCTGTAAACAATTTTCAGGTAAACTACACCTTTAGAAGGTGGCGCAGTGGGTAGTGCTGTCGCCTCACAGCAAGAAGGTCACTGGTTCGAGCCTCGGATGGGTTAGGTGGCATTTCTGTGTGGAATTTGCATGTTCTTCTTGTGTTGGCGTGGGTTTCCTCCGGGTGCTCTGGTTTCCACTACAGTCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21114
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
ENSDART00000110328 Essential Splice Site 784 853 7 8
ENSDART00000110758 Essential Splice Site 524 593 7 8
Genomic Location (Zv9):
Chromosome 7 (position 62493535)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 61540733
GRCz11 7 61850895
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTCAGGGTTTACCAGACCCTTGGAGACATCATCTTTTATGACGTAAAGG[T/C]AACGTGAACACCTAATGAACACCAAATACTTCAATCCTCCATCTAGTTAA
Long Flanking Sequence:
CCAGTAGTGTTTTAAAAAAAAATGAATGCACAATAATTGTAAAACCGTGATTATTCTTTAGACTATAATTGTACAACCAAAAATCTAGAATTAATGCATCCCAGCAAACTCTTGCATATACAGTACAGTAGGACTATAAATTCATGGTATTCATTATGTGATAAAGATTTACACTCCATCACAGCTTGTGGCTTCCTGCCAAAGTATTGAATGTGTTTCTGAGAATATGGCACAGATGGTAAACTCATGGTCCTGATGATAAACAGCTGGAAACAGATAAAGCTTTGTGTGTTTTCTTCCAGCTGACCGTTTGAATGAGAGAGTGGCTTTCCATCGACTTGCCACACTTTACCATTGTCTGGGTCAGTTTGAAATGGCGGAGCACCACTTTCTGAAAGCCCTGTCTCTGTGCCCATCTCCCCTGCAGTATGACGAGGAAGCCCTGTATTATGTCAGGGTTTACCAGACCCTTGGAGACATCATCTTTTATGACGTAAAGG[T/C]AACGTGAACACCTAATGAACACCAAATACTTCAATCCTCCATCTAGTTAATCAAATGAAAAAAAAAATGCCATAATATATTTTTTATTTTAATTTTCAGTTTGTACACATTGAAATACAACATTTCACATACCCTTTTTACAATAACCTTGCTGCATTTGAAATTATACAAAATAAAAGGATAAGTATATGTTAAAATGTAAACAAAAAAACAGACAAACAACAAAAACAAAAAACAAGAAATAAAAATTCCCCTTTTTTGGTAATGGTAATCCATCATACTACGTACAAGCTACAGCAAATATATTGATGAGTGTATCAAAACAGAACTGTAAGACTGGAACTGCATTGTCCACACAAAAACTAAGCATCAACTTCTTTCTCTGTTAATTCCACATCTTGTATATAACTGAAGTTTAGCATGTAAGATTTATTTTCTAATGGTGGGCTAGACAACATCTGTCTTATCCATTGAGTAGAGTTTGGTCTTTGAAACCATAT
Associated Phenotype:
Not determined