Incidental Mutation 'IGL03118:B9d2'
ID409894
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B9d2
Ensembl Gene ENSMUSG00000063439
Gene NameB9 protein domain 2
Synonymsstumpy
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03118
Quality Score
Status
Chromosome7
Chromosomal Location25680780-25686558 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 25681476 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108403] [ENSMUST00000205325] [ENSMUST00000205658] [ENSMUST00000206913]
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: 24,400,450 G921S probably benign Het
Abca8b T C 11: 109,947,181 T1082A possibly damaging Het
AF366264 C T 8: 13,838,096 probably benign Het
Bfsp1 T C 2: 143,827,333 E442G possibly damaging Het
Bpifb5 C T 2: 154,236,753 probably benign Het
Ccl1 A G 11: 82,178,070 I47T probably damaging Het
Cln3 T C 7: 126,575,397 I285V probably null Het
Cyp4a12b G T 4: 115,432,976 R242I possibly damaging Het
Dcc T C 18: 71,420,273 T771A probably benign Het
Erbb4 T C 1: 68,042,719 D1052G probably benign Het
Fcnb T C 2: 28,076,618 N301S probably benign Het
Gm28043 A C 17: 29,634,731 E403A probably damaging Het
Gria4 A G 9: 4,793,804 probably benign Het
Ighv5-12 T A 12: 113,702,578 M1L probably benign Het
Il17rd A G 14: 27,093,395 probably null Het
Kcnn3 T A 3: 89,667,161 L660Q probably damaging Het
Lcor C T 19: 41,558,369 P131S probably damaging Het
Leng1 T C 7: 3,665,410 N13S probably damaging Het
Loxhd1 T C 18: 77,380,464 V827A probably damaging Het
Mapk13 A G 17: 28,777,735 Y208C probably benign Het
Mybpc3 T C 2: 91,124,503 V453A probably damaging Het
Odam T C 5: 87,885,754 S15P unknown Het
Olfr26 A T 9: 38,855,230 H56L probably damaging Het
Olfr323 A T 11: 58,625,443 V201D probably damaging Het
Pcdhb19 T C 18: 37,499,565 probably benign Het
Per2 G T 1: 91,444,619 Y244* probably null Het
Pik3ca A T 3: 32,459,935 I857F probably damaging Het
Pold1 T A 7: 44,539,400 I447F probably benign Het
Ppm1f T A 16: 16,914,078 W131R probably null Het
Ppp2r2c A G 5: 36,926,316 Y67C probably damaging Het
Psmb10 A T 8: 105,936,900 H155Q probably damaging Het
Ptbp3 G A 4: 59,501,470 A149V probably benign Het
Pygb T A 2: 150,820,811 V566E probably benign Het
Rictor G A 15: 6,759,518 R205Q possibly damaging Het
Ryr1 T A 7: 29,015,786 R4638W unknown Het
Sept3 G A 15: 82,284,514 probably null Het
Serpina3b A T 12: 104,131,054 D198V probably benign Het
Slc27a6 C A 18: 58,556,743 H94N probably benign Het
Taf2 C T 15: 55,052,163 V456M probably damaging Het
Tbpl2 T C 2: 24,087,289 E238G probably benign Het
Ttn C T 2: 76,754,207 V20440I possibly damaging Het
Zfp638 T A 6: 83,935,018 probably benign Het
Zfp865 T C 7: 5,034,645 probably benign Het
Other mutations in B9d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0607:B9d2 UTSW 7 25683332 missense probably damaging 1.00
R4281:B9d2 UTSW 7 25681426 missense possibly damaging 0.69
R5179:B9d2 UTSW 7 25681401 missense probably damaging 1.00
R5575:B9d2 UTSW 7 25683332 missense probably damaging 1.00
R5908:B9d2 UTSW 7 25683299 missense probably damaging 1.00
R6921:B9d2 UTSW 7 25686017 missense probably damaging 1.00
R7560:B9d2 UTSW 7 25681359 intron probably benign
Posted On2016-08-02