ZMP

bbs10

Ensembl ID:

ENSDARG00000069515

ZFIN ID:

ZDB-GENE-060503-355

Description:

Bardet-Biedl syndrome 10 [Source:RefSeq peptide;Acc:NP_001082932]

Human Orthologue:

BBS10

Human Description:

Bardet-Biedl syndrome 10 [Source:HGNC Symbol;Acc:26291]

Mouse Orthologue:

Bbs10

Mouse Description:

Bardet-Biedl syndrome 10 (human) Gene [Source:MGI Symbol;Acc:MGI:1919019]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa28976	Nonsense	Mutation detected in F1 DNA	Not yet available
sa39189	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa28976

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:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000101238	Nonsense	2	565	3	4
ENSDART00000122549	Nonsense	4	567	2	3
ENSDART00000141069	None	None	151	None	2

Genomic Location (Zv9):

Chromosome 18 (position 6843045)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	7420735
GRCz11	18	7379670

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTACTATATATATATATTTGTGTGTGTGTGTGTGTTTATGTGTGTAGATG[C/T]AGCAGCAGCTGGAATGTGTGTCTCTGCAGGTGTGTGTGAGTGTTCTCGGG

Long Flanking Sequence:

TCACAGCAAGAAGGTCGCTGGTTCAAGCCTCAGCTCAGTTGGCATTTCTGTGTGGAGTTTGCATGTTCTCCCTTCGTTCACATGGGTTTCCTCTGGGTACTCCGGTTTCCCCCACAGTCCAAAGACATGCGGTACAGGTGAATTGGGCAGGCTAAATTGTCCGTAGTGTATGAGTGAATGTGTGTGTGGATGTTTCCCAGGGATGGGTTGCAGCTGGAAGGGCATCCGCTTTGTAAAAACGTGCTGGATAAGTTGGCGGTTCATTCCGCTGTGGCGACCCCGGATTAATAAAGGGACTAAGCCGACAAGAAAATGAATGAATGAATATTTTCTAAATTTGCCAGTATGTGTTTTTTGTGAGTTTTGTTTAGGTTTGTGAAAAGGATATAGCAATACAATAAAGTTTAGAAAGAATTAAAATCATTACATCTATGAAGAATACAAGTACATTTACTATATATATATATTTGTGTGTGTGTGTGTGTTTATGTGTGTAGATG[C/T]AGCAGCAGCTGGAATGTGTGTCTCTGCAGGTGTGTGTGAGTGTTCTCGGGCCGCTGGAGTCTGTAGTCCGCCGGTGTCTGGGTCCAGAGGGCGGCAGTGTGCTGTTCACTCGTGACACCGGGGAAACACTCATCAGCAGACATGGACAGAGAGTTCTCAGCACACTACACCTAGAGCACCCTATGGCCAGGTATTCATGCGTTTACATCACATTCGCATTTTACAATATTATAACGAAGCAAGGAATTTTTCACAGTATTTCCTATAATATTTTTGTTCTGGACAAAGTCTTATTTGTTTTATTTTGGCTTTTTATTTTTTTAAAAACTACTTTAAGGTCAATATTATTAGCCCCTTCATGCTATATTTTGTTTGTTGTCTACAGAACAAAGCATAATTATACAATAACTTGCCTAATTACCCTAACTTGCATAATTGAACAATTTAACCCAGTTAAACCTTTAAATGTAACTTTAAGCTGAATACTAGTATTTTTAAAA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa39189

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 > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000101238	Nonsense	251	565	4	4
ENSDART00000122549	Nonsense	253	567	3	3
ENSDART00000141069	None	None	151	None	2

Genomic Location (Zv9):

Chromosome 18 (position 6840537)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	7418227
GRCz11	18	7377162

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GGACTGAATTGCGAGGTCCAATAAAAGCGCTAGTTTTATATGAGAGTTTT[G/T]GATCATCTCTTGGTGATAATATAACCGTATGCTTTCAGCAAGACTGGTTG

Long Flanking Sequence:

CATTCATTCTCCTTCTGTCTGCACTATTGCGAGCAATTCAAGACTCTGCACACATGCGCCGCAAAGCATCTTGGAGCAACCCTGCTCTTCAAAATCTTGCTAATCGCTTGATGGCGCTCAGTAGGAATGAGCTGGATGATATCATAATACACCAAGTTACCCCATATGCCTCATCATACTGTAGTCACCATAGCGACAAACTGGAGCACAGCATCCTAGATTATTTGATCAGCGGGTACATTTCTGGAAGAACAGGAGCTGGCCAGGCGGAAATCCTTAAACATATCCTGTGTGAGTTTTACTATAAATCTAAACGAGATCAAAACACAACCGAAACAATCTCATTCATTCATTCACACTTTAATGTCTTACATACGCGAGTGGCCGGACTTCCTGTTGGCTGCTCTGAGGTGATTGAAGGCCTGGTTGTGACTCGTGATTGGTCAGTGTGGACTGAATTGCGAGGTCCAATAAAAGCGCTAGTTTTATATGAGAGTTTT[G/T]GATCATCTCTTGGTGATAATATAACCGTATGCTTTCAGCAAGACTGGTTGAGTCGCACAGAGAGCATCACAAAGCAAAAGTTAGCATATTTACTAGAATTACAGGTGAATGTGGTGCTGTCTTCTGTAAAGCAGCCGGAGTGTGTGTTACAATGGGCTCGAATGAACCACGTCGCTCTTCTTGAGTGTGTTGACTCGGACCAATTAGACTTTCTTTGCAACATCAATTTTCCAGAAACTCTTTCTCATCCGCAACACATTGTGATGTTAAAATACTGTAAGCGTTTGCAACTGGGTGGGCTTCGCTGCGCCCAATTGGGAATATATTCAAACGCGCACACGCTTGTTCTTTGCGCACCGGCGCCAGGATTGCTTGATCAGACTGTGTGTGTAAGTCGAGGTGTGTTTTTAATGTTACAACATATCACTCGAACCCTAGAATCCAATCAATTCAAGAGTTCTTCTGTTGACCAATCACAATGCACCGTTTCATCTCAGGAT

Associated Phenotype:

Not determined