ZMP

mthfsd

Ensembl ID:

ENSDARG00000062042

ZFIN ID:

ZDB-GENE-030131-3513

Description:

Methenyltetrahydrofolate synthase domain-containing protein [Source:UniProtKB/Swiss-Prot;Acc:Q0P464]

Human Orthologue:

MTHFSD

Human Description:

methenyltetrahydrofolate synthetase domain containing [Source:HGNC Symbol;Acc:25778]

Mouse Orthologue:

Mthfsd

Mouse Description:

methenyltetrahydrofolate synthetase domain containing Gene [Source:MGI Symbol;Acc:MGI:2679252]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa29053	Nonsense	Mutation detected in F1 DNA	Not yet available
sa43127	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa29053

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
ENSDART00000099326	Nonsense	21	382	2	8
ENSDART00000123091	Nonsense	21	382	3	9
ENSDART00000139398	Nonsense	12	244	1	6
ENSDART00000146041	None	None	181	None	6

Genomic Location (Zv9):

Chromosome 18 (position 30859668)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	30937128
GRCz11	18	30915382

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ATGTTTTGACTTGTAGGGGAAACGAAATGGGATGTGCGTCATAAAGTATG[G/A]AACTACATTGAGGTGAAAAACCTTGCCAATTTTCCACGGCCTGTGCACAA

Long Flanking Sequence:

ACTCTCTATGTATTTTGACCATTGTGGAATTCCACTCTGATGTTTTCTCCAACAGAGAGAGAGCATGCATCGCAAAATGTAGTGCATGAGCATTGATGCTAATCTTTAATTGCAGCATGCAAGTGGAATTGCATTGTCAGTGCGTGACCCATGTCATGTGACAATACCACAACACGGTATTATCACACTGTGTATTATTCTGAGCTATAAATTGGTTTGTTGTCAAATAAGTGGTGTGATTCAGTTTCTTTTGTCATTTTTTTGTTTTTCGTGTTACTTACCAGTTGTCCAACATGGTAATGGGACCAGTACAAACTCTCACAAAGTTTTGTAGCACCAGCAGGACAAATCCTCTTGAAGTGGAACCATTTGTTAACTCCCTGGAGCCCTGATTTATTTATTTATTTTTATTTTTTAATTGACTTTATGGTTCTCTTTTAATTTGTTGTTATGTTTTGACTTGTAGGGGAAACGAAATGGGATGTGCGTCATAAAGTATG[G/A]AACTACATTGAGGTGAAAAACCTTGCCAATTTTCCACGGCCTGTGCACAACAGAATTCCCAACTTCAAGGTATCATTCAAAAAGGTCCCAAACAAGTATCAAATTTTATGGATCAACTGGAGATTGTTAACTGTGGACGTGTGTTCAGACAAATTGTTTGTATTAAATGCTAACCGGTTTGTTGGATGTGAGTATCCATTAAACAAAAATGTGTTACTTTAAAGGTCCTTTGAAATGCTTTGAAACATTATTCATTGTGATGATGCCATTTCTACTGAAGCAGAAAGCCAGAGTGAGAGACACCTCTGTAGAGAAGCTCCCCTCTTTTAATCTTTAAGTTACCAATAGTAGTATACATCATAGCCTGACCTATCAAAAAGGCTTATTTCTTTAAATGATTGCATATACAATATTTAAGCACAGGCAATTCCAATCTTATAATTGTATCTAAACTAAGCAACAGAAAGTTTTAGCATATTAGAAGTAAAAAAACACTGTGT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa43127

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:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000099326	Essential Splice Site	188	382	6	8
ENSDART00000123091	Essential Splice Site	188	382	7	9
ENSDART00000139398	Essential Splice Site	179	244	5	6
ENSDART00000146041	Essential Splice Site	116	181	5	6

Genomic Location (Zv9):

Chromosome 18 (position 30863552)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	30941012
GRCz11	18	30919266

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GATCTGTGACTGAATCCACTTGGGTCATTACTGTTGTTCATGATTGCCAG[G/A]TTAGTAATGTAGTCTGTAATAACTCTTTGAGTTTCTTAAAACAAAAAGAT

Long Flanking Sequence:

TTTTACATTTTAATAAAGGCAAGAAAATCCTTACTTGTTCCAACACCTCGTCTAAGATTTGGGTTATTTAACAGAATAACTCCACCAAAAGGTGCAACTAAAGAAACACTGCGTGTTTGTTCTACTTCTCAGGTGATGTCTTGTTTATAAGGTTTTGTGCATGCACTCTCTCTCTCTCTCTCATCTGTTTGAAGTTAAACATTCTTTCTGTGCAAGGGTATCAAAGAGTTCAGTGTCCCTGTTGGTTTAGATGACAAAGTTCAGGTGGATCTTGTCGTAGTTGGGTCTGTGGCTGTATCTGAAAAAGGTAAGGAAAACACATTAAAAAACTTGATTATCTTGTGTCTGTTTTCCATAACAGAAATAAATGGTGTACAATGTATTAAGGTTACAGAATTGGGAAAGGAGAAGGTTTTGCCGACATGGAATATGCTATGATGGCATGCATGGGATCTGTGACTGAATCCACTTGGGTCATTACTGTTGTTCATGATTGCCAG[G/A]TTAGTAATGTAGTCTGTAATAACTCTTTGAGTTTCTTAAAACAAAAAGATAATATATACAAATAATAAAATGCAATCAAATTATAAATAAAAAATAATAAAACAAAGCTTTGTGTGTGTGGTGGCACATTCATCAGACTGCAAAAATAATTAGAACAAAGATAAGCACTGAGAATGAGTGTGTGTGGATATTTCCCAGTGATGGGTTGCGGCTGGAAGGGCATCTGCTGCGTCAAAACATGCTTGAGTTGTCGGGTCCTTCCGCTATGGCGACCCCAGATTAATAAAGGGACTAAGCCAAAAAGAAAATGAATGAATGAATTAGCACTGTAAAAAGAGTCAGTTGTTGAACAAATCTGAGAAACTGGTATGTAAAAAGTTTACCAGTGATGTAGCATAACGTAATTTGATTAACTGTTAGATTTAGAACCCCGCGAATCATTCAGAAGCCACTGGACGTTTGAGCAACACAGTCTTTTGACCTATGCAAACTGCAAAGTT

Associated Phenotype:

Not determined