ZMP

zgc:136403

Ensembl ID:

ENSDARG00000058372

ZFIN ID:

ZDB-GENE-060421-6122

Description:

Zgc:136403 [Source:UniProtKB/TrEMBL;Acc:Q1RM66]

Human Orthologue:

MCPH1

Human Description:

microcephalin 1 [Source:HGNC Symbol;Acc:6954]

Mouse Orthologue:

Mcph1

Mouse Description:

microcephaly, primary autosomal recessive 1 Gene [Source:MGI Symbol;Acc:MGI:2443308]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa35414	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa31904	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa35414

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
ENSDART00000102937	Essential Splice Site	155	422	7	15
ENSDART00000122491	Essential Splice Site	196	470	7	9

Genomic Location (Zv9):

Chromosome 13 (position 6217039)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	6192097
GRCz11	13	6320557

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CAACGATTGAAAGAAATGAAAGCTGGACGTGAACATCTCTCACCCACTGG[T/C]ACCCTATTTCCTTCATATTTTTGTAGCATGTATGTTTTTTAGACCGCAAA

Long Flanking Sequence:

CCTGCACAGAATGAAGAATCAAAACGACATCTTACAAACAAAAGAACAGTAAGAAAATTATAATTGTAATTATAATTGTAATTGTAATTATTTTTTATAATTTGCTGTAAAAATGACATGTATATCTTTGTGAATATTAACTAACTACTTAGTGCCTTTCTCTTTTTGCAGCACTGTTGCATGCAACCAAGGAATATCCCGATAAAGACTCCAGAGAATGACAGACGGCTGAAAAGAAAAATTGACAAGATGATGGAAGGCCTGGTGCCCTCATCCCCTATCGGTGAGACAAGCAAACGATGGTTTAGTTTAATTCCATGTTCATTTCAGAGATTTGATGCGCGTTTGGAATGTTGTTTAAACACAGTTTCGGACACCTCACCTTTTATCATTGATGAGGAACGTGGAATAGTGTACAGCCCCTCTTTAAAACGCTCTGACAGCATGGCTCAACGATTGAAAGAAATGAAAGCTGGACGTGAACATCTCTCACCCACTGG[T/C]ACCCTATTTCCTTCATATTTTTGTAGCATGTATGTTTTTTAGACCGCAAAAGATTATGCCAAACAATGAATTTCACAGTTGACATTTCAATTGATTTGATGTGGTTAATAATGTTACATTTTTATAATTGCATATAGAGAAAATAAATTATATAATGTGCATAAACCAGAGTTGTTTCTTGTTTTTTTTTTTTTTTTTAACTTTAGAATTTAAATCTAATTTAAAAACAACATGATTTGCTAATCTGTTCGTTTACACTAATCCCTAATTCTGGAAAAGCCATATTGATAAAGATTATTAAACTGAACTGTACTAGTAAAGCTTTCTTTCTGGCTTTTATTTTGTTTTGTACTAATGTAATTGTCTTGTACCACAGCCTCACAGAAGCAGGACATTGGCTCAGAGCATGATCCATCCCCTCCAGCATCGACAGCTCTGTCTTTCTTGCAGCAGCTAGGTTAGTGAAACAAAAGTCTTTTTGTGGTAGTAGAATGATTCTA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa31904

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC

Mutation:

T > G

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000102937	Essential Splice Site	233	422	10	15
ENSDART00000122491	None	None	470	None	9

Genomic Location (Zv9):

Chromosome 13 (position 6220959)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	6188177
GRCz11	13	6316637

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGAAATGTGTAGCAAAGTGGAGAATATGAAAAAGGACAAATGCTTGAAGG[T/G]AAAATGCTGGAGTTTTTTTTCCATGTTTAGTAGATTGTATTAAAGTTGTA

Long Flanking Sequence:

CTGTAGTTTAACAGTTCAATTGTAATTATTAATTGAAAGTGAACTTTTTTGTGTGAATTTTATAGTATCACTGGCATCCATAATTGCTCGTAATAAATTTTACAGCACTTTTTACAGTGTGGGTGTAAAGTCTGAAAATGTAAAAGCTGTGAATGTCTAAATTAGCACCCATGTTGTATCTAATCTATGTTGCTGCTATAGGCCACAATAAATGGATTTAATTTTTTGTACTTTAAAAGTAAGGAACATCCTTTGTATTAGTTGAGAAACACATTGACAATAAAGCATGCTTTTAAAAGTGTTTCACGGTTGACCAAATGTAAAAGATGTGCTCTTATCTGCTGTTCAGCTGTGTAGCTGCGCACCTGCTGCTCAAGTTAACTTTGTTTGCATTATTTCAGTTGTAGGGAAAGAAAATAAAAGCACAACAGATGGGATTGAGAGAAGTTCTGAAATGTGTAGCAAAGTGGAGAATATGAAAAAGGACAAATGCTTGAAGG[T/G]AAAATGCTGGAGTTTTTTTTCCATGTTTAGTAGATTGTATTAAAGTTGTATCGGATGAAATGCTTTGAAACAAGATGTTTATGTGAGAATTTAAGATAAGTTCATCCATGTGAATGTTTTTGGAGAAATTGCTAAATTAAAAATATATATCACCCAAAAGTTTAAGTTAAGTTGATAGTTTCAAAGCTTTGTGGTGTATTTTTCTTTTCTTTGTCTGTTAAACACAATGGTATTCTGGAAAGTGGTAGTTACTGACATCCATAGTGGGGGGAAAATACAATGAAAGTCATTGGCTACACATTTCTTACATTATTCAGAATATTAGGGTTCATACAGGTCAACATGGAAATTCTGGAATATCATTCCAATATATTTAGGTCAGTGAATTTTATATTCAAGTCATGGTATATCAGGGAGTTTTGTTTAATTTCTATTTATTAAAATATGATTTTTATATACTCTGTTTTTTTGTTTCACTTGATTTGCTTATTGTTATGTTT

Associated Phenotype:

Not determined