Busch Lab

ZMP

LOC100332111

Ensembl ID:
ENSDARG00000057731
Human Orthologue:
SHC3
Human Description:
SHC (Src homology 2 domain containing) transforming protein 3 [Source:HGNC Symbol;Acc:18181]
Mouse Orthologue:
Shc3
Mouse Description:
src homology 2 domain-containing transforming protein C3 Gene [Source:MGI Symbol;Acc:MGI:106179]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa37208 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa43564 Nonsense Mutation detected in F1 DNA Not yet available
sa12302 Essential Splice Site Available for shipment Available now
sa23841 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa37208
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
ENSDART00000080479 Essential Splice Site 21 374 1 9
Genomic Location (Zv9):
Chromosome 21 (position 3272320)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 2941051
GRCz11 21 3094309
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAACATCTCCACCAGCAGTTTAAACCTGATGACACCCGACTCTAAACAGG[T/C]TCACACACACACACGCACACACTGATCGTCTCTCTTTCAGGAGCCAGTGT
Long Flanking Sequence:
GCCCTGCTGCCTCCTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCCTGAATATGTGGTTTAGGAGGACACTTCCTGTGTGTGTATGTGCACGTGTACACATGTAGAGTTAGAACAAAGATTATTGAAGTCATAATTTGAAAATGTGGAGGATGATTTTTAGGCTAATTTCAAGCAAAAAGTCTATCAAATGAGCAGTTATCAGATTTTACACCATCTATTTTACCATGCAGACCTGTTTCTAGATCACAGGTTTGATTCCCCAAAATAGACAGAAGAAACTAATACAAATGCAATAGTTTTACAGGTGAACACATGACTGGATATATGTCCGTCTCTCTTTCAGACTCCCTCCAAACTCCTCTCCAGTATTTTGGGCAAGAGTAACCTGCAGTTCGCTGGCATGAGCATCAACCTCAACATCTCCACCAGCAGTTTAAACCTGATGACACCCGACTCTAAACAGG[T/C]TCACACACACACACGCACACACTGATCGTCTCTCTTTCAGGAGCCAGTGTTGTATTGCAGATGAATGATTCCCCCTCCTCTTTCCACAGATAATAGCCAATCATCACATGCAGTCCATATCCTTTGCCTCCGGTGGAGATCCGGTAAGACTTTACAGTTTGACACTAGTGAATCTTTCTTCCAGAGGGGTCTGGATGCAGACTTGGTGCAGTGCAATCTGAGCTGCATCCAATGCTTTTTAATGGGCTCACCTAACCCCACCCCTCACCGTGACGTCACTCGCTCCATTTGAGTGCATTGTGTCTGACATTGCTTCACTGAGTGATGCAGTCTCAGCTTGCATCATAAAGGCTGCATCCAGATACTATTGCATTCTTCAGCTGACGTTTATTCAAACGAATCTTAGAGTCACTCGCAAAAGATGGAGACAGACTGAAAATTGAAGACTGAGATTGTTTTTCTGATTAAAGGAGGCATCATTTTTGTGGTATTTTCACTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43564
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
ENSDART00000080479 Nonsense 88 374 4 9
Genomic Location (Zv9):
Chromosome 21 (position 3262815)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 2950466
GRCz11 21 3103645
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGATCAGTACGATCGGTCAGGCGTTTGACCTGCGCTTTCAGCTCTACCTG[C/T]AGTGTCCCTCCAGCAAACCCTCGTCCATTCACGACAGGTGAGTTCATGCA
Long Flanking Sequence:
GTCAAATAAAAGCAGCTTTTAATTTTTTAAACACAATTTTAAGGACAAAATTATTAGCCACTTTAAGCTATTTTTTTTTTCGACTGTCTACAGAACAAACCATCATTATACAATATAAAGAATATACAATATACATGATTGTATAAAAGTGTAACTTTTTATTTTACCTTATTTTAGCTATTTGCAAGGCAATAAATTGATGCATTAAAACAACAAAAATAATAAAAAATGTATAAAAACTAAATGGACATAATAAAAAAAACTATGACAAATGAAGTAACATTTTCTAATAAAAAAAAATTTAAAACATTTAATTCACAATACATTTTTAGTTTGCAGTAAATGCTTTCTTCTGGCACAATTGATTTTCTTGAATTGATGTTTTTTTTTAATTATTATTATTTTCAGCCTGTCATATTCTGGAATGCTCTGACGGTCTGGCTCAGGACGTGATCAGTACGATCGGTCAGGCGTTTGACCTGCGCTTTCAGCTCTACCTG[C/T]AGTGTCCCTCCAGCAAACCCTCGTCCATTCACGACAGGTGAGTTCATGCAAGCACAACAGGGCTGCGTCCCAAATTGCCTACACTGTAAAAAATATCAGTCAATTAGCAGGTTCTGTATTTTGTGGTTCACATGGTGTGTTCTGTTTATTTACAGTTGTGAATTGCATTATGGTCTGCTCCACTCTGTTAAATGATATTGAAAATTCAACACTGTAGATGAACAAAGTGACTTTTATTGGCATTTTAATTAGAGACATGAGGCTCTATTTTAACGATATATGTGCAAAGTCTAAAGCGCATGGTACAAAAGTATTTTTAGGGCATGTCTGAATCCACTTTTGCTATTTTAAGGAAGGAAAAATACACTGCACCGCAGTGCATGGTCTAACAGGGTTGTGTCTATTCTCTTAATGAGTTCTGGGTGTGTTTTGAGCATAACGTGCATTAAACCAATCAGAGTCTCACCTCTCATTCCCTTTAAGAGTCAGTTGCGTCGTGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12302
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080479 Essential Splice Site 168 374 7 9
Genomic Location (Zv9):
Chromosome 21 (position 3255140)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 2958141
GRCz11 21 3111320
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATSAGACTGTTTCAGATTGAAACWTCTTCTGTCTGTGTGTCTTTTATTTA[G/A]GGTCRTGTGACATCTACAGTCTCCCTGAGGTCAAAGCTCAGCCTYYTAAA
Long Flanking Sequence:
GAGCGCTAATGCACTTGCTATTTAAACAGTGTAGCGCAACGCCTCAAAACCACTCTTGCGCCAAGCTGAAACTAGCAAAAGTCTATTGCGCCGCGTCTTGCGCCACACTGCACCGGGTGTATGATAGAGCCCAATATGTTTTGCTTGCCTAGAAAATGCTTCTTGAAATAAGAATTTTTAGATATTTGGCCTAGAAACAAGACAGAAAATCTAAGTAAGAAAAGCATTTTTTGCAGTGTAATTGTTTATTATGTTCTGATATTTTTATGAATCGTGATTTAACAATTTTGTGGTATTGTTTTCTGGGATTTATTTATTTTTTTGTGAGACTTTATTTGTTGCCATTTTGACCAGGTCTCACTGGAGGAATAGATAGTACTGTCTCAATGTGATCTCCTGGCTAAATAAAGGAAACAAATAAAAATATCTGCTGAATGAAGAAGTGTAAGCATCAGACTGTTTCAGATTGAAACATCTTCTGTCTGTGTGTCTTTTATTTA[G/A]GGTCATGTGACATCTACAGTCTCCCTGAGGTCAAAGCTCAGCCTCCTAAAGCTGGAGAAGTGCCCACGTATGTGAACACGCAGCATATCGACACGCAGGTTTTGGCAGCCCTGCAGGCAGAAACAGAGACCAATGCAGATTCGAGCACGACTGGGGCTCCCAAAGACAGCCCGAGGAAAGACCTCTTCGACATGAGTAAGAGCACAGAGGATTCATTCTGTACAGAGATTTACATGTCTAAAGTCTGCATGTACCGGAAGTTGCTGAGACTTTTATTTCAGTATGTTGATGTGCTTCCAGCTGAAATTGAATATTAAGTAGGGGGCGGGGCTTTCTTTTTGTGCATCATTCCCTCATAGCAAACTAATGGTAAGAGGGTTATTAATATACAGTTGCATATTCTCCAAATGCATAAGCAAATGGTCAGACTTTGATTGAAGATTAACAAAACAAAGGATTTTTTTCAGTGGGTTAACTTGCATGAATTAATTATTCATTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23841
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
ENSDART00000080479 Nonsense 365 374 9 9
Genomic Location (Zv9):
Chromosome 21 (position 3249416)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 2963865
GRCz11 21 3117044
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATCACCGTGACAACAACCTGCCAATCGTGTCTGCGGGCAGTGAACTGTG[T/A]TTGAAGCAGCCGGTGGACAGAAAACAGTGACGAAAACTGGTGCCACTCTT
Long Flanking Sequence:
TATATATATATATATATATATATATATATATATATATATATATATATATATAAAATGACTGATTATAAAAAACTAAAAATATTGACCAGAACTGCAATAATATATTGATAATACTCAGTATATTAATATAATCTCAATACTCAAGAATCTATTTGTTATTTTATGTTGTTTGGTTTTTGAAGTTGCTTCATATTTTTCTAAAAACACCCATACGCTGTTTACATTGTTCAGGATTCTTTGATGTATAAAAAGATCAAAAGGGACAGTATTATTATACAAATGTCTTTACACTCACTTTTGATCAATTGAATGCATTTGTTTACTGAATTAAAGTGTAATATATTTAATCATCTTTCAGCCACATGTGCTTAATCTAATCCTTTTCCTTTATGTCTCCCGAAGGTTCGGACGAAAGATCACATATTCGAGAGCATAAGCCACCTGATTGGCCATCACCGTGACAACAACCTGCCAATCGTGTCTGCGGGCAGTGAACTGTG[T/A]TTGAAGCAGCCGGTGGACAGAAAACAGTGACGAAAACTGGTGCCACTCTTTACCAAAACACACACACACACACACACACGGCTCTGTTGACTTTCCGTCCTGAGACCACTCGACGGAGGGACCATTTTCAGATGGACGATTCGAGAGCGCCGATTTATAGGAACTGATACTCTTATTTTATCGCTCGGGTTGAGAATCTATATTTTTGAAGACGCCTGCCTGGTGGATTTAAGTTCGGAACGAGAGACGAAAACTAGATAAAAGTATTTTAGAATAAATAATGATAATTTAAAAAAAAGAAAAAAAAAGTTTTAGTTTTGTCTATCAAGCACAACCGGGATTTTCATGTTCGTCGGTAAGCGCTATAGAAGGAAAGGAAATATTTGCTGATTAAAAAAAAGTACTACCGCTGTTTCTATATATTGACCTATGTTAGGAGTTTACCGCAGCTAGTGTGGAAATCATTCGGTAGCTTCACCGCTTTGAAGGATGACGAATGT
Associated Phenotype:
Not determined