|Institutional Source||Beutler Lab|
|Gene Name||B9 protein domain 1|
|Is this an essential gene?||Probably essential (E-score: 0.789)|
|Stock #||R7841 (G1)|
|Chromosomal Location||61505144-61512931 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 61506366 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 29 (Y29C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099717 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102657] [ENSMUST00000127889]|
|Predicted Effect||possibly damaging
AA Change: Y29C
PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: Y29C
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a gene trap or knock-out allele exhibit ciliary defects including kidney cysts, cleft palate, dextrocardia, holoprosencephaly, polydactyly, micropthalmia, ventricular septal defects, and thin myocardium. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in B9d1||
(F):5'- TGGGACTAAGCCTGACTTCC -3'
(R):5'- TAACAGACTCCAGGGGTACACC -3'
(F):5'- GGACTAAGCCTGACTTCCTGATTTC -3'
(R):5'- CCAGCGAACCCAGTAGTG -3'