ZMP

LOC100330048

Ensembl ID:

ENSDARG00000075352

Human Orthologue:

FAM5C

Human Description:

family with sequence similarity 5, member C [Source:HGNC Symbol;Acc:22393]

Mouse Orthologue:

Fam5c

Mouse Description:

family with sequence similarity 5, member C Gene [Source:MGI Symbol;Acc:MGI:2443035]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa39765	Nonsense	Mutation detected in F1 DNA	Not yet available
sa25756	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa38311	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa39765

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
ENSDART00000112227	Nonsense	238	768	4	7

Genomic Location (Zv9):

Chromosome 2 (position 6494362)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	6877967
GRCz11	2	6789838

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ATGACAACCTCGACTCTGTCAGCTCTGTTCTGGTACACAGCCACGAGAAC[A/T]AAGTTCAGTTGCAAGGTAAAAAAAAAAAAAAAAAAAAAACCCTCATCCCG

Long Flanking Sequence:

AAAAATTCCAGAGCATCCTTGCCTGTGTTGAACTTACCGGTAAAGTCGTTCCAGAAATTTTCTCAATATTTACCGGTATCCCTGTGTGAAAGGGACTACTGAGACCCCCTGCCGCCAAATTTCTAATGGTTTTGTTTCAATGCAAGTTTTTGTGAATAACATTACATCTCTTCTCGCAGCCGTCTCTCTCATAATCTCTAAGTGAGCCAATGATTTTAACCATGACTGTAGAATCTGACAGAATGCATCAATACACGTTCCACCCTGTCTTCCCGCTTCAGAGGGTATTACATCATCACATTGAATAACTCTGTTTGTTTTGAGGCACTTCAGGGGATCTTTACCAATCGCTTCAATCAATTGATGAAACAAAACTAATAATTGCTTATATTGTGTCGCTCTCTCTTCAGGTAACCGAGACCAGGACCGGCCCTTTGGGCTGCAGTAACTATGACAACCTCGACTCTGTCAGCTCTGTTCTGGTACACAGCCACGAGAAC[A/T]AAGTTCAGTTGCAAGGTAAAAAAAAAAAAAAAAAAAAAACCCTCATCCCGACACGACTCTGAAGTGTTTCCTGAGGTCGCGCTTGTGTGATGAGCCATGGCCATTACACGATCAAAGCCGTTGTCTAATTAGCCTGCTAATTATACACAAATCTTGAATGCTGAGAGTTGACTGTGCCTGCTAATTAGATTAAAGGATTTAGCATCTGACAAAAAGCAGGAACCACCGACTTCCAGCCATGGAAAAAGAAGAGGCATGTGTGGTCTCTCTCTCACCCTCCTGTGTTTCTCTTTCCAGGACTTCAAGCTATTCTGCCTGCTTATTTAAGGAGCGGCTTTGTTCAGGCCGCCTTAGGCTACATAGGCTGCAATGCTGAAGGCCAATTTGTGTGCAAAGACAATGATTGCTGGTGCCAATGCGCTGCAGAGTTTCCTCAGTGTAACTGCCCCGAGGCGGATATCCACTCCCAGGAAAGTTACCTGGAGCGCATGAGGGACGCC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa25756

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
ENSDART00000112227	Essential Splice Site	322	768	6	7

Genomic Location (Zv9):

Chromosome 2 (position 6500262)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	6883867
GRCz11	2	6795738

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TATGAAAATCTTCGCAAAAACACTGCTAATTCAGATCTCCCTTTTCATCA[G/A]ATGAGTTCCAGAGTTTCATGGGTAAACTACCAACACAGAGCGCTCTTAAT

Long Flanking Sequence:

GGTCTGTGCAGTCGTTGGCAGCTCTTTCCATCAGAGAGGAACAGAAAGAGTGTAAGTGCTGAAGAGTGACGCTGTGCCTCTTTGCAAGGAAAATACAGGCCTTCATCTTTCAGTGACCTGAGCTGACAGGAGTGAGCATACAAGATACATTTGTTGCAGAGAAAGCTCTACTTAAAGTTTTTTTTTTTTTTTAAATATTAAGATTTCTGAGCCGTGTTCAATAATATGTCTTATAGTACGCGAAAAAGTGAATTGCTATGAAAATTGCTAACTCGTATGATTTTGTATGACTCCTATGGTTCCCACTTAGCCACCGTGACGCCCGTTTATGTATACTGTAAACAAATCTTATTTAATGTTGGTTAACTAATGTTAGCTAATGGGAACTTGTTGTGAAGTGTTGCTAATACCATGTATGCTAATGCTAGTAGGCTAATGTGGGAAATGTATTATGAAAATCTTCGCAAAAACACTGCTAATTCAGATCTCCCTTTTCATCA[G/A]ATGAGTTCCAGAGTTTCATGGGTAAACTACCAACACAGAGCGCTCTTAATTCATCAAGAATCCAGCAGTTGTGGAGGACAGACAGCGCTCTACAGCAACGCTACAGGCAGCTAGAAAGCCGCATTAGCCTCCTGCTTTCCAAGACCCGGCGAACTGCTAACAAGCTCTTCAGCCTCAGCAAGAGATGCCGCACGCAGCCCAAAATAGTCTCTCTAAGGGAAAGGTAAGGTTTATTTATAGGCACACATTAAACTTGCGAATCCTAATTTTTTTTTTGTATAATTATGCAAGTTATGCAAATGAAGCTACATGAAAAGCTGCAAAGTTTTAGTCTATGAGGAATTCTGAATGTTTGTGCATCATTAAACTCTGTGGAAGTGTGAGGTTCATGGGGTTTGAGCTGAAACTGTGGGGTTTTTTTTCAAGCCATCCCATAGGAATGAAAAATCACAAATAAAGCATCTCAGTTGTTTTACATGAAGAGTAGCCTGGTTTCCACC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa38311

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
ENSDART00000112227	Nonsense	526	768	7	7

Genomic Location (Zv9):

Chromosome 2 (position 6509164)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	6892769
GRCz11	2	6804640

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CATCACAACACATGCAATTTTTGTCAGCAACGATGTGCGCCTCAACGTTT[G/A]GTTTGACCCATCCTGGAGAAAAAGGATGCTACTAACACTAAAAAGCAACA

Long Flanking Sequence:

TTTTTTAGTATTGTTAACTTTTATAACCAATGAACAGAGCAAGTCAGGGAATCTTCCCACCCCTAATGCATACATGACAAACCATAAACCTTATTTTCCCTTTTTTTTTTCCAGGCCTTTGAGCTACTGGCTGCAGTTCACCCTGTCCATCCTGTACTGCAGTGAAAACAACCAACTCGGATTTTACACAGAGGAATTACGGACTTGCGCATGTCCTTACGAGAATCCCTCTTGCCAGAGTGTCATCCCCTGTGAGGTGGGTGATGGCCACCGTTGCGCTTCTTGCTCCGTGGACAACCGTACTCGCTGCTCCAGCTGCAACCCAGGTTATGTTCTCAGTCATGGGGTTTGTAAATACGCAGTACCCAACCCTACCGACCACTACCTGGGATTTGAGACAGATCTACAAGACCTGGAGCTCCGCTACCTACTGCAACACAGAGACGGCCGCATCACAACACATGCAATTTTTGTCAGCAACGATGTGCGCCTCAACGTTT[G/A]GTTTGACCCATCCTGGAGAAAAAGGATGCTACTAACACTAAAAAGCAACAAGTTCAAATCTAGTCGTGTCCACATGCTCCTGGGCGTCTCGGTGCAGTTCTGCATGACCAAGAACTCCACCATTGAGCCTGTGTTTTCTGTCTATGTCAACCCTTTTGGAGGGAGCCATTCAGAAAGCTGGACCATGCCAATCAATCAAAATAGCTACCCAGACTGGGAAAAAACAAAGCTGGACATTCCTTTGGATTGCTTCAACTGGACCTTGACTTTAGGGAACCGGTGGAAGAGCTTTTTCGAGACCGTTCACTTCTACCTGAGAGGTCGCATTCGGACAGAGTCCTCTCAAGGGAATGAAACGGTCTACGTTGAGCCCCTAGAAGCAACAGATGCCTCTCAGAACTTTGGATACATGAAGATCAACAGCATGCAGCTGTTTGGTTACAGCATGCACTTTGACCCGGAGGCTATCCAGGACCTGATCCTGCAGTTGGACTATCCGT

Associated Phenotype:

Not determined