ZMP

wbscr16

Ensembl ID:

ENSDARG00000059583

ZFIN ID:

ZDB-GENE-060526-370

Description:

Williams-Beuren syndrome chromosome region 16 [Source:RefSeq peptide;Acc:NP_001076272]

Human Orthologue:

WBSCR16

Human Description:

Williams-Beuren syndrome chromosome region 16 [Source:HGNC Symbol;Acc:14948]

Mouse Orthologue:

Wbscr16

Mouse Description:

Williams-Beuren syndrome chromosome region 16 homolog (human) Gene [Source:MGI Symbol;Acc:MGI:213760

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa7012	Nonsense	Mutation detected in F1 DNA	Not yet available
sa2219	Essential Splice Site	F2 line generated	Not yet available

Mutation Details

Allele Name:

sa7012

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
ENSDART00000082952	Nonsense	43	451	2	12

Genomic Location (Zv9):

Chromosome 5 (position 64491633)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	5	60744293
GRCz11	5	61429014

KASP Assay ID:

554-4394.1 (used for ordering genotyping assays)

KASP Sequence:

GTTACCMCTAAGAAGCGGGAWCAGCAGGACGACGTACCTGTGTATCAGTA[T/G]KTGGGTCAAAACAGGAAGCCYCAAGGGAARGTGTTTGTGTGGGGCTTCAG

Long Flanking Sequence:

ATAAAGGCTAAAAGGCCAAAAAAAAAAGGCTTTTTCTTGTTTTTTATTATCTTATGTGGCTGTTTTGCCACAAATAAATATTTCTTGATGTAAGAATCATTAGACATTTGCACTGAAAATACTGAGGAAAATACTAGTGTTTAACAGTAGAGTTTTTCAGATTTATCATGTGATATTTAGAAATGTACATTTCGGGAACACAATTGTTTGTGTTGTAAATTAGTTTTTTGTAAATATTGTGTTCTCTTTAAAATATTAATAGCATTTTTACCATTAAAAAGATCTTCAAAAGGTCATTAAATTCCCAGATCATCTGTTAGTATGAAGTATTTCCTAAATATATTTTGTATTTTATGCAGGTCACCGTCAATAATGGCTGTAGCTAACATTCGCTCTTATGGTCGTCCTTGTTTTCATCTGGGTCTCCGAGCGTATGCCACACGACCAACTGTTACCCCTAAGAAGCGGGAACAGCAGGACGACGTACCTGTGTATCAGTA[T/G]GTGGGTCAAAACAGGAAGCCTCAAGGGAAGGTGTTTGTGTGGGGCTTCAGCTACACTGGAGCTTTAGGCATACCCAGCTTTGTAGTGCCGGACAGTGGGAGGAAAAAGCCCAGGAAGACCCAGCTCACACCTTACTGTCTGGATACTGAACAAAAGGTGAGACAGCTGTTGAAAATGAAGCCATTTCTCTCAAGGCAACATTTTGAATATCCATGCCTTTATCACCACTCGCCTGGATTACTGTAAATCTTTATATGTGGGTATCAGTGCAGTTGGTGCAAAATACTGCTGCACCTTTTTTGACAGGGAGTCACAAATGTAAGCACATCACCCCTATTTTATTCTCACTTCATTGGCTGCCTTTACAATATAGAATTCATTTTAAAATTATTTTCTTTGTATTTAAATCTATAAATGCTTCTGCTCCTCCATATATATGAGCAATATCACACTTGTAGCAGTGCAATATTGCTGTATATCGGCACTGGTGGGAAGTGTAT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa2219

Status:

F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

A > G

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000082952	Essential Splice Site	250	451	8	12

Genomic Location (Zv9):

Chromosome 5 (position 64477282)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	5	60729942
GRCz11	5	61414663

KASP Assay ID:

554-2756.1 (used for ordering genotyping assays)

KASP Sequence:

CTGCAACCATGTGACCCTTCCCACARTGTTTTAATGCWTCTCTTATTTTC[A/G]GGTCTGGGTCATCATAACAAGGCCTCGTGTCCAGTGCCTGTAGGWGGAGA

Long Flanking Sequence:

TTATTCATTTATTAACTCACTCTGCATGATTATTATTAATGTAGAATTAATGCTTAACAAATAATGAATTCACTAGATGCTAATGCTTAATAAATGATTCATAGTGTGCAGTTATTATTAAGTGTTGCCCATTTTTTAATTCGTTTTTTATTTAGTATGACCCCTTCTAGGTTACGCTTTTTGGTCTTGTCTTTGTGAGATTGTCTTGAGCCGTTTTTCTCCTGTCGTCCTGTAGGTGGCTTGTGGACAGGACCACAGTCTGTTTCTGACAGACAGAGGCTCTGTGTTTGCCTGTGGGTGGGGGGCAGATGGACAAACAGGTTTGGTTCAGCCTCCGTCTGTCATTACCTCTTTTCTCTCCGTCTCGCTTTTTGTTCTACAGCATTATGAAATCAGCCTAAAGGTGTTTTCCAGAAAAAATCTATTGTGACAACAGTCTGTGACTCATAGCTGCAACCATGTGACCCTTCCCACAGTGTTTTAATGCATCTCTTATTTTC[A/G]GGTCTGGGTCATCATAACAAGGCCTCGTGTCCAGTGCCTGTAGGTGGAGATCTGGCTGGGGTCACAGTTCAGCAGGTGGCCACGTATGGAGACTGCAGTCTGGCAGTGTCCACAGATGGCCAGGTTTTCGGGTGGGGGAATTCTGAGTACCTCCAGCTGGCTTCTGTCACCGAGTCCACACAGGTAAAGATGAGCAGAACACAGGGATGATTGAAGGAACTGTTCACTGTCATAGAATTATCTGCCTCACATACACAATATTTAAGCCACCATTACGTTTCTTGTTTTGTTAATTAGGTTATAATCCCACTATATAAAGCTATTTCTCATTGACTTTATTACAATACAACTTGAATTTACAGGTTAGAGTTAGATTGTTTTTATTTTTTGGTCTGATTTTTGTATGCGAAATAGAAAAGTAAAAGAGATGATGAATGATGAACGAGTGCTTGCTGGCTTCAGTGAAACTTGTTGGTGGCTCAATCCTGGTTTGAGGTTTG

Associated Phenotype:

Not determined