ZMP

zgc:103471

Ensembl ID:

ENSDARG00000052307

ZFIN ID:

ZDB-GENE-041212-36

Description:

Probable lysosomal cobalamin transporter [Source:UniProtKB/Swiss-Prot;Acc:Q5PR61]

Human Orthologue:

LMBRD1

Human Description:

LMBR1 domain containing 1 [Source:HGNC Symbol;Acc:23038]

Mouse Orthologue:

Lmbrd1

Mouse Description:

LMBR1 domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:1915671]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa42270	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa9221	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa42270

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:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000074131	Essential Splice Site	306	541	9	16
ENSDART00000100361	Essential Splice Site	306	541	9	16
ENSDART00000133265	None	None	213	None	7

The following transcripts of ENSDARG00000052307 do not overlap with this mutation:

ENSDART00000146031

Genomic Location (Zv9):

Chromosome 13 (position 39083472)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	38560284
GRCz11	13	38686174

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AGAGAGAAACTGCTGCAACAAAGTGGGCTCTGCTCTCCGTCCCATGAAGG[T/A]GTGTTTGAGTTTTACCTCTGAATTGCTTCAGTGACTTTCAGTGACTTCAA

Long Flanking Sequence:

CATTGAGCCGCCCTGGCGCCTCTTGTATTATGATACTAAAATGAATAAACTTGACATGTTTTTTAGTCTGTATGGCCAGTTATACCAGTCTGGTTATTTATCATCCATCATCCACAAAAATAAACATAACTTTAAAAATGAATAGAAGAATATTATTATTTAATTGGGTTACCAATAGCAATAATGTAAACATACATAAAAAATTATTTGTGCAAGCTTCAGTTGTAAGTAATAATGTATCACTTGCCAAAAAAAGAATCTACCAAAATTCACAAGCCATTTCAAATTGAAACCATTTTTTGTATGTATTATTATGCATTCATTTATGTGTATGCTTTCTCCTCAGTGTGCTGATGGTCGTCCACTGTCTATGAGAGACCGGAGGAACCTCCAGGATCTTGAAGACAAGCTGCAGTTGCTGCATCGACGTGGACGTCACCTGGAGATCGCAGAGAGAAACTGCTGCAACAAAGTGGGCTCTGCTCTCCGTCCCATGAAGG[T/A]GTGTTTGAGTTTTACCTCTGAATTGCTTCAGTGACTTTCAGTGACTTCAACTCCTGAATGAAATTGACAATTGTGCTGCGTGTTTTGAACCACAGCTTTGAACCTCAGAGGTCATCCCAAAAGAAATCGAATTGTCTATGATCTTTTTCAGAATCACTTACAGCCCCAAATCAGAAAAAGTAGGGACAGTTTGGAAAAAGTAGTGATTTTTTTTTTACTTGCTTTGACCTGTATGTCATTGCAGACAATACAACAAACATTATTTAATGTGTTGCTCATGATTCTTTATTATTATATATTTTTTTTCGAAATAAAGGTATTTTGGTTCTTGCAACGCATTTAAAAAAAAAGGACAGGAGAAGTGTAGGGCCAGTAATCAGGTAAATTGGAAAAATAAAATGCAAAAATAGCTGGTTATGAATAAATATCAACATATGAGCAGCTGCATTTACACATCAGACTCAGCGTTCAGTCATTCAGTGTTCATCAAGTGCCGCTAG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa9221

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
ENSDART00000074131	Nonsense	435	541	13	16
ENSDART00000100361	Nonsense	435	541	13	16
ENSDART00000133265	None	None	213	None	7

The following transcripts of ENSDARG00000052307 do not overlap with this mutation:

ENSDART00000146031

Genomic Location (Zv9):

Chromosome 13 (position 39061128)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	38537940
GRCz11	13	38663830

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

WCCTCCTCATCGTCCTCCACACCAGCTACATGATCTACAGTCTGGCCCCG[C/T]AATACGTCATGTACGGCAGCCAGAAATACCTGCTGCAGGTGAGCYGTGGG

Long Flanking Sequence:

TAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCTATCATTTTCATTAATGTTTAACATTCATTAAAAATTAATGCTGTTATTTTTAACATAATCCCAACTATATCTGCATAGCATATCTCTGAAATTTAGGGTCAGGGCTTGGAAAAATAACTTTGTGGAGATCACAAGAGATTATTCTGTTTAGCAATTTTATGCCGTTTTCTCTATGTTGTTTTCCCTATATAGTTAAAGTGTCCGCTACATTAGCTCTACCCTGTCTTACCATCTTAAAGTGTTATCTCTATGGTACATTTTTGTTGTTTGGAAGGCTGTAGACTCTTCATACTGTGCCATATCAGTAATACAAAGATGCTTTTGTTCTTATCATGCAGCTGTATAAAATCAGGCCTCAGAGAACTCGACCACAGGCCCTGCTCTTTCTCTGCATGATCCTCCTCCTCATCGTCCTCCACACCAGCTACATGATCTACAGTCTGGCCCCG[C/T]AATACGTCATGTACGGCAGCCAGAAATACCTGCTGCAGGTGAGCCGTGGGTTTGTTTGTGTTGCATTCAATCCCCTGTGCTGTACGCCATCGGGATTACAGGATTACTGCTGTCGTATTCTCCGCAAACAGGGCCCACGCCGCTGACATAAGTATGTAATGATCAACCCTTTACAAAGCAAGTGTTTGAAAGCCTTTCAAAACCTTCTCTCCTCAAAACCTATTAAAGGCCGCTCCTGCGTCTCGCGTTTATTTTCTTTTTCGCTTCTTCAAAGGTCTTTGCATTTATATGAGGTTAAAAACTGACATCTTTGACCCGATCATGTTAGGTGCGAACATTTGCCTGTGTGTTCTTTAGTGCGCATCTATACATCTAGTCATATGTAGCCTAGCAACGGCTGATCAACGCTTGGCATGAAATCTGCATGGTTTATTCTGGCCAAGAACCACCCACTTAAACAGGAAGAGACCTTCAGACCTACATGTGACGCCGCTTTTCAC

Associated Phenotype:

Not determined