Busch Lab

ZMP

LOC562395

Ensembl ID:
ENSDARG00000061005
Human Orthologue:
SHKBP1
Human Description:
SH3KBP1 binding protein 1 [Source:HGNC Symbol;Acc:19214]
Mouse Orthologue:
Shkbp1
Mouse Description:
Sh3kbp1 binding protein 1 Gene [Source:MGI Symbol;Acc:MGI:2385803]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa16084 Essential Splice Site Available for shipment Available now
sa14940 Essential Splice Site Available for shipment Available now
sa10335 Essential Splice Site Available for shipment Available now
sa15252 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa16084
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000086530 Essential Splice Site 16 841 1 20
Genomic Location (Zv9):
Chromosome 18 (position 47804443)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 48959224
GRCz11 18 48954011
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCATGGCGAGGATTGGAGACATCATTCATCTGAACGTCGGGGGRAAAAGG[T/A]TTGTATTAAGCCTCCATCCTGCTGAGGCAMACRCAGACTTCACTAACTTA
Long Flanking Sequence:
CTTGTTTAAATCGAGTTACTCTGCATTGATAGTAGTTTTACAATATGTATTTTCATTATATTATTTTATACAAGTATTTGGGAAAATTCGACGATTTTGCTTCATTTACACGGTTGTAGAACTTGAAACACTTAGATATATAAAAAATAAACATTTCTTCATATAGCTATAATTTGTGTTCCTAAGATGCTTTTATTTCTACACTGAAAATGTTCTCTATGATACGAATACAACCTCTTTTAAAGAGGCTTCTCCTCTGTTTATCCAAATATAGACTTTTATTCTGAAATAGGCGTTACTCCACTTCCGCCTATAGTGAATCGCTGCAACATCCGCTCTTTCGCTGTTTCCTCAACGGCGAACACAATTAAACAGCATTTATAATGTACTTAATAATAGCAAATAAACAAGTTTACCATAAAATATGAACGTTTTGCCTTAAAACGATAATCATGGCGAGGATTGGAGACATCATTCATCTGAACGTCGGGGGGAAAAGG[T/A]TTGTATTAAGCCTCCATCCTGCTGAGGCAAACACAGACTTCACTAACTTACCTCAGTCAAGAACTCTTAGCATTATAGTAAACCCTGGACACTTTATCTTAGGCTTACTATGCAGCAGCAGCGTCGTTTTATTGAGTGTATTGTATTGATCAGACTTTGTAAAAGTCAGCAGACAGTGATAAACATCTGCATACCTTCACATTCTACAGGAGGCCTGTCTTCATTGAGGTAAAGTTGGGTTTTTGTGATTCGCACATTCGGACTTTCTGCTTGATATCATCTTATTAAAGTATTATTTGCTAATTCTAGATAGGGAAATCATAATAGTAGCCAACAACTACGTTACAACTTTGTTTACAGTCAATTAAATAGTGCTAATCTTGCTATAATGTCATACTTGGATGCGATTTCAGACCCAAAATTCAGATTATCCTGGAAAGCATGTTAAGACCGTGTCGCAAGTTGTCAACAATTGTGCGAAGTTATGCTAAAGTTAGTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14940
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
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Mutation:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000086530 Essential Splice Site 310 841 11 20
Genomic Location (Zv9):
Chromosome 18 (position 47812929)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 48967702
GRCz11 18 48962489
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AATGAAAGCGAGAGGWAACAGTTTCWGATTTTTACACCTCTCTTTCTGCA[G/T]AATCAGGATGTGGTTCCCATCAACAGTTACGACACCGCTGGATCTTTCCT
Long Flanking Sequence:
TTCTTTTGTGTTCAACACTAAAAAAGAAAGACAAACATGGTTGAAGGTCGTGAAGGAAAAGTAAATGACAACACAATTTTCAGTTTTGGAGGGACTTTCTCTTTAAAATCTGCTCAGAGCTTAAATGTTAGTGGGAATTGGGTGTTTTTTAAAATTACAGTATTGTATGGTCAGTCGGTACTTTTGGCAATCCTAGTATCGATTCAATTCATAATAAATCTATTTTTACACCGATTTAATGTGTGATTTATTGAGTGTTTATTAATTGAGTGTTGATTGTGGTCTGCAGGTGTGTTCAGTCTCAATGTACCAGTGGAGGCGCTGTTTTTCGTAGGAAATCAGCTCATTGCCACCAGCCACACGGGTAAAGTGGGCGTCTGGAACGCCGTCACCAAACACTGGCAGGTAAAGCAGGCAAAGCTGTTCATGCTTTAGGTAGAATTGATGCTGAATGAAAGCGAGAGGAAACAGTTTCTGATTTTTACACCTCTCTTTCTGCA[G/T]AATCAGGATGTGGTTCCCATCAACAGTTACGACACCGCTGGATCTTTCCTTATTTTGGGATGCAATAATGGATCTATTTACTACATCGGTAAAGTGACCAGCAGAGCTGAATAATTGTCAAGTTTTGAGTTAGAAATAGAAACATTTCATTTAATACACTGCATTATGGCATTGACAAAAGTTTATTAAATATAATTATTTGTTTAAAACTAATTAGTTATGCTTTTCAAGACATGGGTTGCAGCTGGAAGGGTGTCCGCTGTGTAAAAACGTGCTAAATAAGTTGGCGGTTCATTCCGCTGTGCCGACCCCAGATTAATAAAGGGACTAAGCTGAAAAGAAAATGAATGAATGAATAGTTATGCATTATTTATATAAATGATTTAATAAATGGTTTTGATTTATAATTGTGTTTTTATTATGTTTAAGTATTTACAAATTGAAATGCTGCCTTTTGCATTCAAAAGATTTCTGCATTTAAGGTATATTTAATAACACAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10335
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000086530 Essential Splice Site 339 841 11 20
Genomic Location (Zv9):
Chromosome 18 (position 47813019)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 48967792
GRCz11 18 48962579
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGATCTTTCCTTATTTTGGGATGCAATAATGGATCTATTTACTACATCGG[T/A]AAAGTGACCAGCAGAGCTGAATAATTGTCAAGTTTTGAGTTAGAAATAGA
Long Flanking Sequence:
GGGACTTTCTCTTTAAAATCTGCTCAGAGCTTAAATGTTAGTGGGAATTGGGTGTTTTTTAAAATTACAGTATTGTATGGTCAGTCGGTACTTTTGGCAATCCTAGTATCGATTCAATTCATAATAAATCTATTTTTACACCGATTTAATGTGTGATTTATTGAGTGTTTATTAATTGAGTGTTGATTGTGGTCTGCAGGTGTGTTCAGTCTCAATGTACCAGTGGAGGCGCTGTTTTTCGTAGGAAATCAGCTCATTGCCACCAGCCACACGGGTAAAGTGGGCGTCTGGAACGCCGTCACCAAACACTGGCAGGTAAAGCAGGCAAAGCTGTTCATGCTTTAGGTAGAATTGATGCTGAATGAAAGCGAGAGGAAACAGTTTCTGATTTTTACACCTCTCTTTCTGCAGAATCAGGATGTGGTTCCCATCAACAGTTACGACACCGCTGGATCTTTCCTTATTTTGGGATGCAATAATGGATCTATTTACTACATCGG[T/A]AAAGTGACCAGCAGAGCTGAATAATTGTCAAGTTTTGAGTTAGAAATAGAAACATTTCATTTAATACACTGCATTATGGCATTGACAAAAGTTTATTAAATATAATTATTTGTTTAAAACTAATTAGTTATGCTTTTCAAGACATGGGTTGCAGCTGGAAGGGTGTCCGCTGTGTAAAAACGTGCTAAATAAGTTGGCGGTTCATTCCGCTGTGCCGACCCCAGATTAATAAAGGGACTAAGCTGAAAAGAAAATGAATGAATGAATAGTTATGCATTATTTATATAAATGATTTAATAAATGGTTTTGATTTATAATTGTGTTTTTATTATGTTTAAGTATTTACAAATTGAAATGCTGCCTTTTGCATTCAAAAGATTTCTGCATTTAAGGTATATTTAATAACACATAAGAATAAAATGCTCCTCCTGTTTCAGTTAATAGTATTTTATTAAAAAAAAAATATCCTACAGAATACAACGTGCAGCAAATATGTATTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15252
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000086530 Nonsense 457 841 14 20
Genomic Location (Zv9):
Chromosome 18 (position 47816666)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 48971439
GRCz11 18 48966226
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AYCACGTGCGCACGTGGACGGTGACGCGCTTCAGAGGCATGATCTCCACT[C/T]AGCCCGGCTCCACTCCGCTGACCTCCTTCAAGATCCTCTCRCTGGAYGAT
Long Flanking Sequence:
CGCGCCGCAGGATGTCTATATCTCATCTTCTCAATGACTTCACATGTAAATCACTCGCGCTTCACCCGCGTCTGCTTACTGCATAAGCTGAACACTCCCCCGCTCTCCAGTCCATGTAATGTGATGATAGTGAGGGCGCAGGTTTTCTAGAGACACTCAAATGCATCACGTGTGCTGCGTACGCAACGACTATAAGTCATGTAAAACTATTAATAGCAAACTGAAATAAATATCATTTAATTATATGGTTTGAAATTTTGTTTTATGAGATTATTTACATTTTTTTCTGTTCAATTTTTGCAATATTTGTGCAGTAATTGATTTCCATTTTTTCACCATTGAAAACAATGGAATTTGTTAAAAAATAATACTAATTTCATGTGCATTTATTAATCTAAGTGTGAATTAATTGACTTGAAATGCTCTTGTGTGCAGTGTGCGCAGACAACAACCACGTGCGCACGTGGACGGTGACGCGCTTCAGAGGCATGATCTCCACT[C/T]AGCCCGGCTCCACTCCGCTGACCTCCTTCAAGATCCTCTCACTGGACGATATCGACGGACATGCGGGCTGTGCTGCTGGAACTGAAATAGGTGAAACAGACTGTACCTGTTAACTGAGACAAACATATCTGGATGATATACATTTTAGGAGCTGTAGATTCAAAATAACCACCTAAAAGCCTGACGCCACGTGTGAATGGCGTCAACGCTTCCCATTCACTTTGAATGGGTGATGTCATGCGTTGCCAAACTGCATTGTGGATCCATCGGCGTCGATTCAGAGGCGTTGCTCGCTGCAGAAGTTGAGACTAGCTCAACTTTTCAAGCACCGACGGAAGCATCAGCCAATCAGATCGCTGTATGCAAATACACCAGCTGACAGTGGCCTATTGCTGACTGAACTCAGCTGACGCTTCTATGACGATCACTTCAGAAGTGAAAGTGTTCTTATGAAATATGGAAATATGGGAAAGAGGGAAGACTTTACACTTTAGTTTATT
Associated Phenotype:
Not determined