Busch Lab

ZMP

ghitm

Ensembl ID:
ENSDARG00000014573
ZFIN ID:
ZDB-GENE-040426-1537
Description:
growth hormone-inducible transmembrane protein [Source:RefSeq peptide;Acc:NP_956885]
Human Orthologue:
GHITM
Human Description:
growth hormone inducible transmembrane protein [Source:HGNC Symbol;Acc:17281]
Mouse Orthologue:
Ghitm
Mouse Description:
growth hormone inducible transmembrane protein Gene [Source:MGI Symbol;Acc:MGI:1913342]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa8494 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa42102 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa8494
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
ENSDART00000034768 Essential Splice Site 73 120 2 3
Genomic Location (Zv9):
Chromosome 12 (position 50615600)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 48982444
GRCz11 12 49003973
KASP Assay ID:
2260-5830.1 (used for ordering genotyping assays)
KASP Sequence:
ATTACGGTCTCGGCATGTCCAGTGAGATYGGGGCCAWCGAGAAGGCAGCG[T/C]AAGAGTTTGAGCCTGACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Long Flanking Sequence:
TGTTACAGATTATCTCTCAGTCAGATTATTCTTCTGAACACATTGGCAGATAATTTAGCTCGTTTTAGCCAAAGATCACTTCATGTTGAGGAGGTGTTTTCAGAAAACAAGACACCATTCCTCATGCTCCTTCATCTGTCCAGTGTGCGCCTTCATTTAAATCTTTCTTTCAGAAAACAGGACAAAACTAAGCTTATATTATTTCATTATTATTATTATTATTATAACAGCTCGGGATGAGCTTTATTGAATTAAGGGTTGGAAATGAAGGCTTTTCTTATTTTTTTAGTCTACAGCTGACAGTATGGGTCAGGTTATACTGATGATGATGATGATGATGATGATGATGATGATTGTGTGTGTGTGTGTGTGTTCTCTCCTCCACAGTTGACAGTATGGGTCGGGTTCTGCTGGCGGGCGGTGCAGCGGTGGGTTTGGGCGCTCTGTGTTATTACGGTCTCGGCATGTCCAGTGAGATCGGGGCCATCGAGAAGGCAGCG[T/C]AAGAGTTTGAGCCTGACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGCGCGTGTGTGTGCACGTGTGTGTGTGTGTGTGTGCCCCCGTGTGTGTGTGTGCCCGTGTGTGTGTGTGTGCGTGTGTGTGCGTGTGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAAACAGCTGTTCTTCATCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAAACAGCTGTTCATCATCTGTGTGTGTGTGTGTGTGCAGGATCTGGCCGCAGTACGTGCGGGACCGCATACACTCCACATACCTGTATTTCGCGGGCAGTGTGGGCCTGACGGCGCTCTCGGCGGTGGCCATCAGCAGGACCCCGGTGCTCATGGGGATCATGATGAGCAACTCCTGGCTGGTACGCACACGCATAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42102
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000034768 Nonsense 119 120 3 3
Genomic Location (Zv9):
Chromosome 12 (position 50615119)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 48981963
GRCz11 12 49003492
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCATCAGCAGGACCCCGGTGCTCATGGGGATCATGATGAGCAACTCCTG[G/A]CTGGTACGCACACGCATACACACACACACACGCGGAGGTGATGCGCAGCG
Long Flanking Sequence:
GGCCATCGAGAAGGCAGCGTAAGAGTTTGAGCCTGACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGCGCGTGTGTGTGCACGTGTGTGTGTGTGTGTGTGCCCCCGTGTGTGTGTGTGCCCGTGTGTGTGTGTGTGCGTGTGTGTGCGTGTGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAAACAGCTGTTCTTCATCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAAACAGCTGTTCATCATCTGTGTGTGTGTGTGTGTGCAGGATCTGGCCGCAGTACGTGCGGGACCGCATACACTCCACATACCTGTATTTCGCGGGCAGTGTGGGCCTGACGGCGCTCTCGGCGGTGGCCATCAGCAGGACCCCGGTGCTCATGGGGATCATGATGAGCAACTCCTG[G/A]CTGGTACGCACACGCATACACACACACACACGCGGAGGTGATGCGCAGCGATGTAGACCTTTTTCTTAGAAGGCAATATTACCCATGATGCTTTGCGTGTGTGCGGGGAGGATGTTCCAAGCGTCCGGTCAGCAGCTGATGTGTCTGAACTAGGGCTGCTCAAAATAACAGATTAAGCGTTCATAATAAAGCGTTTGTAACTGGATAGTAGTATCAGTTTAACAATTAACTAATGTTATGGTACATATATTACAGAGTTTGGCTGCATGACGGGCCGGTCGAATGTGCTTTTGCATTCAGAGGGGCATCTTTAAAATGGTTTACTGACCGCTGCAAGTGTCTGCGCACGGCTCATGCCAGAGCAGCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTCAAGATAACCACAGAGAACTTGTAGAGAGCATGGTCCCGCTACAGTGAGTCTTCCATGTCGGGACGCCACACCAGA
Associated Phenotype:
Not determined