ZMP

Q5BLC3_DANRE

Ensembl ID:

ENSDARG00000053362

Description:

CILP protein [Source:UniProtKB/TrEMBL;Acc:Q5BLC3]

Human Orthologue:

CILP

Human Description:

cartilage intermediate layer protein, nucleotide pyrophosphohydrolase [Source:HGNC Symbol;Acc:1980]

Mouse Orthologue:

Cilp

Mouse Description:

cartilage intermediate layer protein, nucleotide pyrophosphohydrolase Gene [Source:MGI Symbol;Acc:MG

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa40928	Nonsense	Mutation detected in F1 DNA	Not yet available
sa7599	Missense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa40928

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 > G

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000075398	Nonsense	71	1171	3	8

Genomic Location (Zv9):

Chromosome 7 (position 32772084)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	31166424
GRCz11	7	31437574

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GATCACCCTGGTGGGAAAGGAGATTATGAGAAGCTGAATGTAATTCGTTA[T/G]TATTATCGAGCCCGTGTGTGTGAGGTTCCTCGAGCTCTGGAGGCACGGAC

Long Flanking Sequence:

TTGTAATGTAATGGGCAGCACAAATGTCTTAATAGCAGATCTCTTACATGCCCCATACTGAATGTAACCCCAAACCATGATTTTTCCTTCACCAAACTTGACTGATTGCCGTGAGAAGTCCATGCGGGTTCCAATAGGTCTTCTGCAGTATTTGTAATGACTGGGATGCAGTTCAGTAGACAATTTATTGGGAAAGTCTACCTTCTGGCACTTTTTCCAAATGATCAACTAGAAGTCAGGTTATTATTTGTTGTTCTTATCGGGATCAATGATAAGACATAGCGTACATGGAAATGATCGAAATTTGGACTAGAAACAAGACAAAACCTCTGAGTGGGAATTTGTTTTTCTTCCTCAATGTAATTAAAATTTAAACAAACTGACATTGAAAGTCTTACAAATCTTTCCTTTTGCTCAGATAATTATGAGTGGACCACGTGGTTCAATGTAGATCACCCTGGTGGGAAAGGAGATTATGAGAAGCTGAATGTAATTCGTTA[T/G]TATTATCGAGCCCGTGTGTGTGAGGTTCCTCGAGCTCTGGAGGCACGGACCACCGACTGGATCCCAGCTCGCAGCACTGGGGAAAGAGTTCATGCTGACCCAGCGGTGGGCTTCTGGTGTGTCAATGATGAACAGCCTTTTGGGAAGAACTGCTCAAACTATGCTGTACGCTTCCTCTGTCCCAGAGGTAAGCAATTGCTAAAATCTAATGAAGTGGGATTTTCAAAATTAAAACAGCTTGTGTTGTGCATTAAAGAGAATAACATTTATATATTTAATCTGTAATAGATCAGTTTTATTTAGCATGTTTTCTTTAATATCGCATTTTCTTGTCAGAATGAATGGTACTTTCTTAATAATAAAGAGTCTGATTTCAGAAATGTATTTAACTGTAATTTAACTTGAGGGAGTTTTTAGCTCACCCCAAAATTTTATTTTTGTTAATAACATTTGTCCCACTTAAACACAAACACAAAAATTTTTGTAACCAAACAGTTGAT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa7599

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:

Missense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000075398	Missense	244	1171	5	8

Genomic Location (Zv9):

Chromosome 7 (position 32770276)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	31164616
GRCz11	7	31435766

KASP Assay ID:

554-4256.1 (used for ordering genotyping assays)

KASP Sequence:

TCCCTGCACCTGGAGCTGCAATCCTGCGTGCTGGWTCCAGCMCCAAACTC[C/T]TCACTGTTACTGATCAYAATGGACACTTCCAAGTCCCTGGAATCTGCCCT

Long Flanking Sequence:

AGCTGCATCCCATCACTGGGAAACACTTATACATTCTTATTCACACACACACACACACACACACACACACACAACAGAAACTTTTAACTTACCCACCTATAGCACGTCTTTGGACTTGTGGGGGAAACCGGAGAACCTGAAGGAAACCCACACAAACACGGGGAGAACATGCAAACTCCATCTATTGAGTTTACAAAAAGTTAAGAATAATTTCAATAATTGTCAGTTACAAATTAAACTAACCTTTCCTGTCATACAGTCATAGTTACAACCATATGTAGTTTTACATTTTCTAATTTACTTCACACTTGTTAAATAAATAAAAACTAACAATTTTTTTTTTCTTAGGTTGTGATTTGCAATGCATTGTGGGGACTGTAAACAGTGAATGTGATGGCTGCATGTGCCAGGATCATACCGTTTTAGGCTCAGTTCGTAGTGCTGGGGGACTCCCTGCACCTGGAGCTGCAATCCTGCGTGCTGGTTCCAGCCCCAAACTC[C/T]TCACTGTTACTGATCACAATGGACACTTCCAAGTCCCTGGAATCTGCCCTGATGGCAACACTACTCTGATGGTCAAGCTGAGTAATCATGCTCCACACCAAGTAACTGTGCCCCCAAGCAAAGAACGCACCACTGTCCTTCTTTTGAGGCTAGAACGAGCAAGTAATAATTTTGAAATACCTTAAATGAAAATGACATTTGGACTTTCTGTATTAGCATGAGATTATTACCTCAAAAAGAGATGAGAAAACATGTATCGCTGTGTTCCTCAGAAAAACTCCATGTGCTGAAAAATCCTGAGGATAGGGCCAGAAGAGAAGGTCAGACTGCTGCATTCTGTTGTAAGATCGATGGCACTCCTGGACCAAGCAGTTATGAATGGTAAGTCCAAGCTTACAGATTTAATTTAAGATGATAAGAAAGGACAAATAGAATTTGGGTTTAAATCATGGCTGATTAAACAAATCAGTTTAACCTGAAGTTCTTGATAACTAAGAGTA

Associated Phenotype:

Not determined