ZMP

si:dkeyp-66d7.2

Ensembl ID:

ENSDARG00000013110

ZFIN ID:

ZDB-GENE-030131-9438

Human Orthologue:

EPB49

Human Description:

erythrocyte membrane protein band 4.9 (dematin) [Source:HGNC Symbol;Acc:3382]

Mouse Orthologue:

Epb4.9

Mouse Description:

erythrocyte protein band 4.9 Gene [Source:MGI Symbol;Acc:MGI:99670]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa9155	Nonsense	Mutation detected in F1 DNA	Not yet available
sa41636	Nonsense	Mutation detected in F1 DNA	Not yet available
sa41637	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa9155

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
ENSDART00000064615	Nonsense	237	356	9	12
ENSDART00000141953	Nonsense	171	331	9	14

The following transcripts of ENSDARG00000013110 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 10 (position 20171982)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	10	20180668
GRCz11	10	20138049

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GCTTAATGGASCTCTAATCATGACAGCAATGTTTATTTRTTTTTTAGATA[C/T]AGTCCAACTTAGGCAAACTGATCCTGAAGGAGGAAATAGAGAAATCAGGA

Long Flanking Sequence:

TTATTATTATGTCAAGCCGTTAATCATATTATATTGTAATATTGCGATACAGTTGTGATATAAAAGGTATGCAACTTAGTAAACATTATTATTAGTATTATATTAAGTATAATAACAACATCTTTTATAATAATTAATAGCAGTATTATATTGGAATATTTCAGCACTTTATCAGACTGTAATGAATCATCATTGATGTTTTTTTTCCTCCGTCAGAGATTGAGTGGAGGAGGAAGGCAGCAGAACAAGGAAAACCAATGGAGGACGATGACTTTGAGGATCTGACAGAAGACGCAAAGAGACTCCAGGAGCAAGAGCTTCAGAAGGTGAGCACTCGCTGAATATGAGCGCTCACTGTCTGCAACAATACATCAGACGCCGGACTTGATGATCAAGTGTTTTGTTTTCAGCTGTTAAAGTGAAGTTTGCAGTACTGGAAGGATGTGAGGAGCTTAATGGAGCTCTAATCATGACAGCAATGTTTATTTGTTTTTTAGATA[C/T]AGTCCAACTTAGGCAAACTGATCCTGAAGGAGGAAATAGAGAAATCAGGACTCATCCGCAGAAAAACACGCTCTCTGCCAGATGGGACAAACATACATTTGGGTATGTAATGCTTGTTTTACTGAACACTCTTCAGCTCAAAGGAACAGTTGAACTAAAAATCAATATTTGCTCACCTAATCACCCTTGCAGAACACAAAAGAAGATATTTTGAAGAAAGCTGACAATAGCCTTTGACTGCCATAGTAGGGGAAAACTAGGGAAGCCATTGGCCATCGTTTTAATATTTATAGTTAACATTTAAATAAGTACAAAATTATAATAGTTTATTGTGATATTCTAATATTATTGTGATTAAAATAATACTGATCTCTAAATGGTATGATTAAATGTTGTTATTATTATTATTATATAAACATTAATTATAATAATTAAAATAGCTGTAATTTATTCTTCTTATAATTTCTTATATTTCTTATATTATTTAATTATTTATCTTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa41636

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:

A > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000064615	Nonsense	304	356	11	12
ENSDART00000141953	Nonsense	279	331	13	14

The following transcripts of ENSDARG00000013110 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 10 (position 20178408)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	10	20187094
GRCz11	10	20144475

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CTTGTGTCTTTCTTCAGATCTATCCTTATGAGATGCTGATTGTGACCCAC[A/T]GAGGGCGCACTAAACTTCCTCCTGGTGTTGACAGGACCAGACTAGAGGTA

Long Flanking Sequence:

ACACTCACACACATACACACACTCTCTCACACACACTCTGAATAATGAGTCGCGTGAGGCTGATTCATTATTGTGTATGCTGTGAGGCCTGCTCTCTGAATGTACCTGTCTCATGTTGATCTCCTGTGTCCCGCTTTTTCGGGGCTCGGGGGGCATCTTCATAGAATGGCGATTCACAGAGTGGCCGAATGGACAGAGGAAACTCTCTTCCTAGTATTCTGGAACAGAAGGTGAGGCAGATCTCAAGAGACGCTTCATAACCCCTGCCATACATTCACTCACATGCTTTCAAGCCTGGCATAGGTCAATGCTGAATTCTTTATGCAAGTATAATTCAAGATGATGCTGAATGAACATCCAAACCGCTGGATGTGTGACGGCTTGATTTCGGTGTCTAGTTAATTAAAATGCATGCATACTGAATGTAGTGTTCATAAAGTTGAATGAAATCTTGTGTCTTTCTTCAGATCTATCCTTATGAGATGCTGATTGTGACCCAC[A/T]GAGGGCGCACTAAACTTCCTCCTGGTGTTGACAGGACCAGACTAGAGGTAAATCGTAGTTAAAATTAAGTTGTCTTTTTTGACAAAAAGAAGCAGCAACACAAATAATTTTAATGATAAATCAGTATAAAGCATTGTTATTATTACTATTATTATTGTTAGGATATTATTATTATTAATAATAATATTTTGTTGTGATTGTTGTTGTTAAAAAACCTAAATAAAGAAAACACCTAAAATTAATAGCATTACCATTCTTGTTGACATCTTATTGCTAATATACTATGCATGCTGTTTCTGTTAAATAGCAATGTTTTAAAATAATTATTTTATTTATTTTGTAATTGTTGTTATTTTTCATGTTATTTCTCAAACACTCCTACAAATAAAAAATAACTAAATATATATTTTTATAATCAAATAAATAAAATATGTAAAGAATGTATAAATAAATATATATTTAAAAAAAAACAAATAAGATAAAGGATTATTTATAAAGTC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa41637

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 > T

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000064615	Essential Splice Site	320	356	12	12
ENSDART00000141953	Essential Splice Site	295	331	14	14

The following transcripts of ENSDARG00000013110 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 10 (position 20180363)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	10	20189049
GRCz11	10	20146430

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TCTAGTGTATAGGGTTTTCTCTGACCGACTGTTTTGCTTTCGTCTTAACA[G/T]AGGCATCTTTCTCCAGAAGAATTTCACAGCTTATTCGGGATGCCCATCAC

Long Flanking Sequence:

TCAAAATATTTTTTAATATTTTCAGTTATTATTTTCATTAATTATAAATATTGTTATTATTATTATTGTTGTTGTTATTATTAATAAAAATAATAATAACAATGCCAAGATTGTGGTTTGATTGCAAAAACTGATCAATTTTTTACGTTCAATGCAACATAAACCACTTTGGATAACTGTAAATGTAACATTATTTTATTTGAATAAAATAATAAAATAAAATAATAATAATTAATAAAATAAAAACCTATTTTTTTATAAATTGTAATAACGCAATAAATATTTTAAATAAAAAAAATAACAATTTTACATATGACATATTAGAGGTTTTAGATTTCTAAACTAACTAAACTAAATATTATGACTACATTATGAATAGATCTACATTTACATTAGATTAAAACTAACATACACAACTGTATATAACAATCTTTAACATTTGAAATTTAGTCTAGTGTATAGGGTTTTCTCTGACCGACTGTTTTGCTTTCGTCTTAACA[G/T]AGGCATCTTTCTCCAGAAGAATTTCACAGCTTATTCGGGATGCCCATCACAGAGTTTGACCGTCTCTCACTATGGAAGAGGAACGACATGAAGAAGAAAGTTTCCCTTTTCTAACACTTGGACACATCTGCTTTTTGGACACTGAACCACTTTTCCCCTCCAGAGATGCCAGTAAAAGCCACTTTAGTTTAATACGGATGCTATGCAGACAGTTGAAGATAAGCGAAAGAATGACCAGATGTTCTTTCAATCACAATTACAGCGGTCTCTGGTGTACATGATAATAAAGATGAAGATTCACCCAATCCCACACAAAAATCTGAAACAAACAAAATCGGATTATTATTGATGGAATATCATCTCCTGCAGCCCTTTGTTTACGCCTTACGTCTATTTCAAACTCTTAAAGTGCCCAGAGAAGTTTATAATTATAATAATAATAAAAATAACAATAATAGGCCTATATATTTACACAAAGTTTTAATCGTGAATCATCATTT

Associated Phenotype:

Not determined