Busch Lab

ZMP

ENSDARG00000088302

Ensembl ID:
ENSDARG00000088302
Human Orthologues:
AP005117.2, FAM38B
Human Descriptions:
Transmembrane protein C18orf30 [Source:UniProtKB/Swiss-Prot;Acc:Q8N787]
family with sequence similarity 38, member B [Source:HGNC Symbol;Acc:26270]
Mouse Orthologue:
Fam38b
Mouse Description:
family with sequence similarity 38, member B Gene [Source:MGI Symbol;Acc:MGI:1918781]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa3272 Essential Splice Site F2 line generated Not yet available
sa5700 Essential Splice Site F2 line generated Not yet available
sa24422 Essential Splice Site Available for shipment Available now
sa44067 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa3272
Status:
F2 line generated
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
ENSDART00000124243 Essential Splice Site 20 805 2 18
ENSDART00000124243 Essential Splice Site 20 805 2 18
Genomic Location (Zv9):
Chromosome 24 (position 378276)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 899560
GRCz11 24 895718
KASP Assay ID:
554-3159.1 (used for ordering genotyping assays)
KASP Sequence:
TCATGTATATTAATATGTATGAAAACACTGGTCTGTTTGTCTTTCCTCAA[G/A]CCGGATAACTACACCGAGGCCCAGCGGATGGACATGGCYAAATCTCTGCT
Long Flanking Sequence:
AAGTCACATGTAAAGGCGTCACTAGGGTAATTAGGGTAAAGTTAGGGTAATTATGCAAGTCATTGTATAACAGTGGGTTATTCTGGAGACAATCCAACACTAATATTGCTGAAAGAGCGAATAATATTGACCTTAAAATGACTTTAGAACAATTAAAAACTGCTTTTATTCTAGCTGAAATAAAACAAATAAGACTTTGTAAAAAATGACTAGAGCATTAATAATAAGGGGCTAATAATGTTGTATTCACTTTTATATGTTTAAAAATTTGGCACTAGAACTTATAGCTCTTTTAAATATATATAAATGTGCATTTTTACCATTATTAGCTGGTTATATTCAGGCTGTTCCACACAACTGTGTTGAAACCCCTTATAAAAGTGATTTTTGCATTATAGCTCTCCTCTTCTAACTCTCATTAATGCAATACCCCCAACACTGCCCTTCAGCTCATGTATATTAATATGTATGAAAACACTGGTCTGTTTGTCTTTCCTCAA[G/A]CCGGATAACTACACCGAGGCCCAGCGGATGGACATGGCCAAATCTCTGCTCTACATCGGCCCCGTGGATCCAGCAAACTGGATCGGCCTGAGAAAGTTCAGTCCCCTGCTGGAGTATCTGAGGGTAAGAGATACACAATACTGGAGAAATGTACAACATTGTTGTTGAGTATTTCTAAAAATAAAACATTTCCTTAGAAAATTTTCATTAGCTTTTCTTTTTTAATCATGTATCTGTTTAACGATATTAAAATAAACAGATACAGATATATTGTTCACATCTAATTCGTTATAATTCTGACTATAAAACGTTTTTAAAAACTATGAATGAGTGAAGACCTGAGCATAAACATCACTGGTAAAAAAAAAGACAGGAGCATTAATAATAAGGGGCTAATAATGTTGTATTCACTTTTATATGTATGAAGATTTGGCACTAGAACTTATAATTCATTTAAAAGACCTTGCTTTAGTTTTTATTATTGTAGCTACATGTACAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5700
Status:
F2 line generated
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
ENSDART00000124243 Essential Splice Site 20 805 2 18
ENSDART00000124243 Essential Splice Site 20 805 2 18
Genomic Location (Zv9):
Chromosome 24 (position 378276)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 899560
GRCz11 24 895718
KASP Assay ID:
554-3159.1 (used for ordering genotyping assays)
KASP Sequence:
TCATGTATATTAATATGTATGAAAACACTGGTCTGTTTGTCTTTCCTCAA[G/A]CCGGATAACTACACCGAGGCCCAGCGGATGGACATGGCYAAATCTCTGCT
Long Flanking Sequence:
AAGTCACATGTAAAGGCGTCACTAGGGTAATTAGGGTAAAGTTAGGGTAATTATGCAAGTCATTGTATAACAGTGGGTTATTCTGGAGACAATCCAACACTAATATTGCTGAAAGAGCGAATAATATTGACCTTAAAATGACTTTAGAACAATTAAAAACTGCTTTTATTCTAGCTGAAATAAAACAAATAAGACTTTGTAAAAAATGACTAGAGCATTAATAATAAGGGGCTAATAATGTTGTATTCACTTTTATATGTTTAAAAATTTGGCACTAGAACTTATAGCTCTTTTAAATATATATAAATGTGCATTTTTACCATTATTAGCTGGTTATATTCAGGCTGTTCCACACAACTGTGTTGAAACCCCTTATAAAAGTGATTTTTGCATTATAGCTCTCCTCTTCTAACTCTCATTAATGCAATACCCCCAACACTGCCCTTCAGCTCATGTATATTAATATGTATGAAAACACTGGTCTGTTTGTCTTTCCTCAA[G/A]CCGGATAACTACACCGAGGCCCAGCGGATGGACATGGCCAAATCTCTGCTCTACATCGGCCCCGTGGATCCAGCAAACTGGATCGGCCTGAGAAAGTTCAGTCCCCTGCTGGAGTATCTGAGGGTAAGAGATACACAATACTGGAGAAATGTACAACATTGTTGTTGAGTATTTCTAAAAATAAAACATTTCCTTAGAAAATTTTCATTAGCTTTTCTTTTTTAATCATGTATCTGTTTAACGATATTAAAATAAACAGATACAGATATATTGTTCACATCTAATTCGTTATAATTCTGACTATAAAACGTTTTTAAAAACTATGAATGAGTGAAGACCTGAGCATAAACATCACTGGTAAAAAAAAAGACAGGAGCATTAATAATAAGGGGCTAATAATGTTGTATTCACTTTTATATGTATGAAGATTTGGCACTAGAACTTATAATTCATTTAAAAGACCTTGCTTTAGTTTTTATTATTGTAGCTACATGTACAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24422
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
ENSDART00000124243 Essential Splice Site 366 805 7 18
Genomic Location (Zv9):
Chromosome 24 (position 383904)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 905188
GRCz11 24 901342
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCTCATCGCATACAACGTCTTCGTGATCACCATGAAGAACATCCTCTCGG[T/A]GAGTACAGGCTGTCTTTAAAACTCTTCAAATTAAACCTAGCCATATTGAT
Long Flanking Sequence:
AGGAGGAGTGCGTGTCTCCCGTTCAGCTGTTAGCTGGTGATAATGTGGAGATCTGTCGAGATCTGGACGCCGCCACCTTCAGCCAGCACAACCCCGTCCCAGACTTCATCCACTGCAGGTCAGACATGTTAAACATGCATAATGAACGTGGACGTTCATCTGATCCGTGTGTCACATCAAAAACCGGAACTTTTCCAAACCTTTCCTCATGTCATGGCTAGCTGTGAATGTAAACGTTGTGTTTTGTGCGGTCAGGTCGTATCTGGACATGCTGAAGGTGATGGTGTTCAGTTATCTGTTCTGGTTTGTGCTGACCATCATCTTCATCACGGGCACCACGCGCATCAGCATCTTCTGCATGGGGTATCTGGTGGCCTGCTTCTACTTCCTGATCTTCGGCGGTGAGCTTTTACTCAAACCCATCAAGAGTATCCTGCATTACTGGGACTTCCTCATCGCATACAACGTCTTCGTGATCACCATGAAGAACATCCTCTCGG[T/A]GAGTACAGGCTGTCTTTAAAACTCTTCAAATTAAACCTAGCCATATTGATGCTGTTGGTTCACATTGCTAATTTTGTGCTGAACAATTCATCTGTGTCATTAAGAAACAAAAATGCCCTTGTAATGTTTAATTGAAATCTGAAGATGCACTTCCTGTTTGTTTTGAGTTGCATCCTCCGATTAAGTCAGTCTGAGGTATTGGACGTGGCTACATACTCAGCCACGCCCCTCCAGCTGTCAGTTCTGACATCAAAAAGAAATGGTGAGGAGGAGGAGGAGTCTGTTAGGTTGTAATAACCCTCCCCAAAACCTTTACTACATCTAATCAGCTCACAGTAAAAAAAAAACAAGCCACTCCCACCGTTTTCTTATTTAATATTCCGTTTCTTTAGGAACTGCGTCACAATAACAAAACAAAAACAATGGCAGCTTCCGGTTCATGCAGACTCTAAACTCACTAAACTATGAGGTTGTAGGTTTTAAATCGTTTTAACTGGGTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44067
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
ENSDART00000124243 Nonsense 386 805 8 18
Genomic Location (Zv9):
Chromosome 24 (position 385895)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 907179
GRCz11 24 903333
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGTGGTTATATTAAAGCACTGGTGGCGAATCACTGCTGGCTCATCCAGT[T/A]GTTCAGTCTGGCCTGCACCATTAAAGGATATTCAAAGCGTAAGTAATGCT
Long Flanking Sequence:
AATTTCTTGCAATAAAAACAAACACATTTGTAACACAATGGTGTTTAATTCTGAATGCACGAGTCAAGCTGAACCTGCCTTTGCTTGATTTGCTCGTCGATGTCTTGTCCTCTATCTTCGAGTGACAGTATTTACATGTTTAAAAGTCTGATTTGTGCACAACATTTAATTGAAACATTTAATTTCAGCTGTAGCTCAACAATTATACAAACAAACAAACAAACAAAACGTGATGTGAAATTAGACATGACGACCACTGTTGAAAGCATTTGCCGCAACCTGCTCTAGGGGTGAACAAATGTCTCCTTTAGTGAAACCATGTGTTCTTTCATAGGAAAGTACCCATTTACTCCCAGCACCGATTCACAAGACAGTGTTCAAACATCAGCCATTGTGTTATTATGCTCTTGTTTTTCTTCATGAATGTGTGTGTGTGTCTCAGATAGCGGCGTGTGGTTATATTAAAGCACTGGTGGCGAATCACTGCTGGCTCATCCAGT[T/A]GTTCAGTCTGGCCTGCACCATTAAAGGATATTCAAAGCGTAAGTAATGCTTCAGACAATTACACACACTCTGAACTTTGGTGTCCTGTGACTTTAAACACTTTACAATAGGCTTCTAAATGTCTGCATTAATTATATTACTATAATAACTTGAACCAGCAATCGACAATGGATTGAAATAATGTTTAACCTGAGCTAACATAAACATTCACAGTCAATGGGTGTATATTTATTAGCTTAAAATAAAGATGAATAAATACTGCAGGCATTGTTAAAAACACCGTCAATCATCTTTGTTTAATATAAAGATACTAATAATAGTAATAGTTAGCTCTGACAGCGATAAGGGATTGTTTTATTGTAGTATTAATTGATGTATATCTATTAACTGTGCTGTTTAGCAGATTTCGGCCTGACTGTGTGTGTGTGCGTTTGTGTGTGTGTGTGTGTGTAGCGGAGCAGCAGGCTAATAAACAGTGTGAGCTGCCGAGTGACGAGGCG
Associated Phenotype:
Not determined