Incidental Mutation 'IGL03118:B9d2'
ID 409894
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B9d2
Ensembl Gene ENSMUSG00000063439
Gene Name B9 protein domain 2
Synonyms stumpy
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03118
Quality Score
Status
Chromosome 7
Chromosomal Location 25380205-25385983 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 25380901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108403] [ENSMUST00000205325] [ENSMUST00000205658] [ENSMUST00000206913]
AlphaFold Q3UK10
Predicted Effect probably null
Transcript: ENSMUST00000108403
SMART Domains Protein: ENSMUSP00000104040
Gene: ENSMUSG00000063439

DomainStartEndE-ValueType
Pfam:B9-C2 4 164 5.1e-64 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000205325
Predicted Effect probably null
Transcript: ENSMUST00000205658
Predicted Effect probably null
Transcript: ENSMUST00000206913
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice carrying a targeted mutation of this gene exhibit preweaning lethality, hydrops fetalis, and abnormalities in craniofacial, limb, and eye development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,619,424 (GRCm39) G921S probably benign Het
Abca8b T C 11: 109,838,007 (GRCm39) T1082A possibly damaging Het
Bfsp1 T C 2: 143,669,253 (GRCm39) E442G possibly damaging Het
Bpifb5 C T 2: 154,078,673 (GRCm39) probably benign Het
Ccl1 A G 11: 82,068,896 (GRCm39) I47T probably damaging Het
Cln3 T C 7: 126,174,569 (GRCm39) I285V probably null Het
Cyp4a12b G T 4: 115,290,173 (GRCm39) R242I possibly damaging Het
Dcc T C 18: 71,553,344 (GRCm39) T771A probably benign Het
Erbb4 T C 1: 68,081,878 (GRCm39) D1052G probably benign Het
Fcnb T C 2: 27,966,630 (GRCm39) N301S probably benign Het
Gm28043 A C 17: 29,853,705 (GRCm39) E403A probably damaging Het
Gria4 A G 9: 4,793,804 (GRCm39) probably benign Het
Ighv5-12 T A 12: 113,666,198 (GRCm39) M1L probably benign Het
Il17rd A G 14: 26,815,352 (GRCm39) probably null Het
Kcnn3 T A 3: 89,574,468 (GRCm39) L660Q probably damaging Het
Lcor C T 19: 41,546,808 (GRCm39) P131S probably damaging Het
Leng1 T C 7: 3,668,409 (GRCm39) N13S probably damaging Het
Loxhd1 T C 18: 77,468,160 (GRCm39) V827A probably damaging Het
Mapk13 A G 17: 28,996,709 (GRCm39) Y208C probably benign Het
Mybpc3 T C 2: 90,954,848 (GRCm39) V453A probably damaging Het
Odam T C 5: 88,033,613 (GRCm39) S15P unknown Het
Or11l3 A T 11: 58,516,269 (GRCm39) V201D probably damaging Het
Or8d1 A T 9: 38,766,526 (GRCm39) H56L probably damaging Het
Pcdhb19 T C 18: 37,632,618 (GRCm39) probably benign Het
Per2 G T 1: 91,372,341 (GRCm39) Y244* probably null Het
Pik3ca A T 3: 32,514,084 (GRCm39) I857F probably damaging Het
Pold1 T A 7: 44,188,824 (GRCm39) I447F probably benign Het
Ppm1f T A 16: 16,731,942 (GRCm39) W131R probably null Het
Ppp2r2c A G 5: 37,083,660 (GRCm39) Y67C probably damaging Het
Psmb10 A T 8: 106,663,532 (GRCm39) H155Q probably damaging Het
Ptbp3 G A 4: 59,501,470 (GRCm39) A149V probably benign Het
Pygb T A 2: 150,662,731 (GRCm39) V566E probably benign Het
Rictor G A 15: 6,788,999 (GRCm39) R205Q possibly damaging Het
Ryr1 T A 7: 28,715,211 (GRCm39) R4638W unknown Het
Semp2l2a C T 8: 13,888,096 (GRCm39) probably benign Het
Septin3 G A 15: 82,168,715 (GRCm39) probably null Het
Serpina3b A T 12: 104,097,313 (GRCm39) D198V probably benign Het
Slc27a6 C A 18: 58,689,815 (GRCm39) H94N probably benign Het
Taf2 C T 15: 54,915,559 (GRCm39) V456M probably damaging Het
Tbpl2 T C 2: 23,977,301 (GRCm39) E238G probably benign Het
Ttn C T 2: 76,584,551 (GRCm39) V20440I possibly damaging Het
Zfp638 T A 6: 83,912,000 (GRCm39) probably benign Het
Zfp865 T C 7: 5,037,644 (GRCm39) probably benign Het
Other mutations in B9d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0607:B9d2 UTSW 7 25,382,757 (GRCm39) missense probably damaging 1.00
R4281:B9d2 UTSW 7 25,380,851 (GRCm39) missense possibly damaging 0.69
R5179:B9d2 UTSW 7 25,380,826 (GRCm39) missense probably damaging 1.00
R5575:B9d2 UTSW 7 25,382,757 (GRCm39) missense probably damaging 1.00
R5908:B9d2 UTSW 7 25,382,724 (GRCm39) missense probably damaging 1.00
R6921:B9d2 UTSW 7 25,385,442 (GRCm39) missense probably damaging 1.00
R7560:B9d2 UTSW 7 25,380,784 (GRCm39) intron probably benign
R9051:B9d2 UTSW 7 25,385,462 (GRCm39) missense possibly damaging 0.50
Posted On 2016-08-02