ZMP

mfge8b

Ensembl ID:

ENSDARG00000045803

ZFIN ID:

ZDB-GENE-070209-137

Description:

milk fat globule-EGF factor 8 protein b [Source:RefSeq peptide;Acc:NP_001074459]

Human Orthologues:

F8, MFGE8

Human Descriptions:

coagulation factor VIII, procoagulant component [Source:HGNC Symbol;Acc:3546]
milk fat globule-EGF factor 8 protein [Source:HGNC Symbol;Acc:7036]

Mouse Orthologue:

Mfge8

Mouse Description:

milk fat globule-EGF factor 8 protein Gene [Source:MGI Symbol;Acc:MGI:102768]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa38056	Nonsense	Mutation detected in F1 DNA	Not yet available
sa44279	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa38056

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
ENSDART00000067324	Nonsense	372	473	8	10

Genomic Location (Zv9):

Chromosome 25 (position 19671560)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	25	19083537
GRCz11	25	19181488

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ACAGGGCAAGACCAACGCCTGGACGGCAGCTACAAACAACCGCTCCGAGT[G/A]GCTGCAGGTGAGACACGAAAAACTTTTAGGGTTGTAAAAAGAGATGGAGA

Long Flanking Sequence:

TAACATTAAATAAGTATGAAATTGATCAATTAAAAATGACCGATATATTATGCTTAATCATCTGTGTGAAACTCTAATTTTCAGCTAATATAATGTTGCGCATGTCAATGTCTCATTCACAGCATTGCCCACTTCACTCCTCCATGTGTCTCTGAGCAGCTTCACATACACACACAGCGCCGACTGTCGCCTGCATGCGCTTCACACACTCTCAACTGCATGACTGCTTTGGTTTGTGCTGCTTGTGCTGACGCTTCCCATCCATCTCTCTGCCACTTCCCTTTGTCCGCTGTCTCACTTCACAGTGTATTTGAACACGACAGGTTGCTCCGAGCCGCTCGGCGTCAAGTCTCGGCTCATCAGTGACCGGCAGATGACATCGTCCAGCGCTTTCCGCACCTGGGGCATTGAGGCCTTCACCTGGCACCCGCATTACGCCCGTCTGGACAAACAGGGCAAGACCAACGCCTGGACGGCAGCTACAAACAACCGCTCCGAGT[G/A]GCTGCAGGTGAGACACGAAAAACTTTTAGGGTTGTAAAAAGAGATGGAGAACATCAGGAGTGTGTCCTAAACTAGAGATAATGATACATTTTGAAGCTGAAGAGGTCATGTGAAGTGAGAGGGCTACTGGTGTCAAGCAAGAGCTTCAGATTTCTGAACCAGAAAAATATGACTGGTAATACGACAAGGAACATTTTTCATTAGAGGGATATATGGACAGACGATGGATGTACAGATAGATGGAAAAATGGATAAGTGGGTGGGTGGGTATATGGATGGATTGTTAAACAGATTGATGGAAAGATAATGATAGATGACGGATAGAAGGTGGGATGGATGATGGATACTGTGATGGAAGTATGAGCATGGCTGGATGGATAGATAGACTGAAGAACAGATAGATGGATGAAAATATACTGTAATTGGATAATCGATATATAGACAGATGAACAGTGACGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa44279

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
ENSDART00000067324	Essential Splice Site	426	473	9	10

Genomic Location (Zv9):

Chromosome 25 (position 19674254)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	25	19086231
GRCz11	25	19184182

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CGGCCAACACTGGACGATACTCAAAGAAGACAAGACCAAAACAGATAAGG[T/C]TGGGTTCTAAACACAATTTAATTCATTATGTGAAATCAGCGTGAAATTAC

Long Flanking Sequence:

AATTCTCTCATCATATAGTCACCCTTCACTTGTTTCAAACCGGTTTAAGTTTGTTTTGTATGTTTAACACAAAGACGTTTTTTCAAAAATGCTAGAAACCGTTACCCATTGACTTCCATAGTGTTGTTTTTTCTACTATGAATGTCAATAGTTACCAGTTTATAATATTCTTCAAAATATCTTCCTTTGTGTTCGACAGAAAAAAGAAACTTATAAACATTTGGAATCACTTGAGGGTGATAGGGAGTAAATTTTGGGTGAACTTTAAAACAAATGATTGTAACTAAATGTCAGTTTCTGATGTAATGCCTCTTGCTGAGTTGTTTTGATCTGTGTGTTTTAGGTGGATCTGCTCAGACCAAAGCGCATTACAGGAATCATCACACAAGGAGCCAAAGACTTCGGCAATGTGCAGTTTGTATCTGCCTATAAAGTGGCTCACAGTGACGACGGCCAACACTGGACGATACTCAAAGAAGACAAGACCAAAACAGATAAGG[T/C]TGGGTTCTAAACACAATTTAATTCATTATGTGAAATCAGCGTGAAATTACCTTTAACTTAAAGAAAACCACCCCATAATTTATTCTCAAATCATCCTCTTTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATCTTCTTTCAGATGAATACAGTCGGCTGTGAACACTGTGCTGTATAATAGTGGTAGTGGCTTTTATTTTAAAGCTTCCAAAAGCACATGCACATCTGTCATAAAGATAACCCATACACCACCAGGGGTTAACACATGTCTCATGAAGCAGATCCATGTGTTAAAACAAAGAAAATCACAATTTTAAATTTAAACTCAATTTTCAGATTTCCACTGACTGCTGATTACACGTTCTCAAACTTCTGACTCAATGTATGAAGCATGACGTAAGACACGTTGGTTGCCAAAGCTCTGGGAGTAGACCAGATGAA

Associated Phenotype:

Not determined