Incidental Mutation 'IGL01878:B9d1'
ID178978
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B9d1
Ensembl Gene ENSMUSG00000001039
Gene NameB9 protein domain 1
SynonymsB9, Eppb9
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.763) question?
Stock #IGL01878
Quality Score
Status
Chromosome11
Chromosomal Location61505144-61512931 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 61507623 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102657] [ENSMUST00000127889]
Predicted Effect probably benign
Transcript: ENSMUST00000102657
SMART Domains Protein: ENSMUSP00000099717
Gene: ENSMUSG00000001039

DomainStartEndE-ValueType
Pfam:B9-C2 11 174 3.4e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127889
SMART Domains Protein: ENSMUSP00000117524
Gene: ENSMUSG00000001039

DomainStartEndE-ValueType
Pfam:B9-C2 1 89 2.6e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137010
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155176
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-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
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox8 G T 11: 69,197,038 Q147K probably benign Het
Ankib1 T A 5: 3,734,152 M275L possibly damaging Het
Asb2 G A 12: 103,321,663 P546S possibly damaging Het
Col12a1 T C 9: 79,649,975 D1957G possibly damaging Het
Cryzl2 T C 1: 157,472,400 V44A possibly damaging Het
Fbxw19 A C 9: 109,483,279 probably benign Het
Gabrb3 T C 7: 57,816,415 F326L probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm11168 T C 9: 3,005,204 C16R probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm7808 T A 9: 19,928,246 probably benign Het
Gpam T C 19: 55,083,374 I312V probably benign Het
H2-M10.5 A G 17: 36,773,816 Y144C probably damaging Het
Hivep3 T C 4: 120,095,227 S247P possibly damaging Het
Hs3st4 T G 7: 124,397,313 C401G probably damaging Het
Klhl2 A G 8: 64,759,824 V227A probably damaging Het
Lct T C 1: 128,294,266 N1512S probably damaging Het
Lipm T A 19: 34,116,511 L276Q possibly damaging Het
Lmf2 T A 15: 89,352,418 H515L probably damaging Het
Mccc1 G A 3: 35,975,892 S423L probably damaging Het
Mettl21e G A 1: 44,211,033 S71L probably null Het
Muc16 T A 9: 18,495,543 H251L possibly damaging Het
Neb T C 2: 52,169,840 probably benign Het
Ntf5 T C 7: 45,416,026 I194T probably damaging Het
Olfr1124 T C 2: 87,434,970 I161T possibly damaging Het
Olfr1154 A T 2: 87,903,331 L115* probably null Het
Olfr1265 T C 2: 90,037,134 S72P probably damaging Het
Olfr1361 T C 13: 21,658,783 D180G possibly damaging Het
Olfr99 A G 17: 37,280,000 V140A possibly damaging Het
Pigv T C 4: 133,665,117 I247M probably benign Het
Pik3r5 A G 11: 68,492,530 N392D probably benign Het
Postn A G 3: 54,383,480 probably null Het
Prl2c5 G A 13: 13,185,817 S23N probably benign Het
Prpf40b T C 15: 99,306,532 C220R possibly damaging Het
Pzp A G 6: 128,495,298 S843P probably damaging Het
Rpl23 C A 11: 97,778,351 R85L probably benign Het
Shcbp1 A G 8: 4,749,721 S252P probably damaging Het
Slc26a7 C T 4: 14,519,388 probably null Het
Sptbn4 T C 7: 27,364,146 E2285G probably damaging Het
Telo2 G T 17: 25,101,358 T784K probably benign Het
Tnfrsf19 C T 14: 60,996,644 V136M probably damaging Het
Trpm5 T A 7: 143,074,497 I22F probably damaging Het
Trpv6 G T 6: 41,626,867 probably benign Het
Vmn1r173 T G 7: 23,702,452 H37Q probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo6 T A 7: 126,174,193 H20L probably benign Het
Zfp462 T C 4: 55,010,613 Y860H probably damaging Het
Other mutations in B9d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:B9d1 APN 11 61512678 missense possibly damaging 0.77
IGL01944:B9d1 APN 11 61512379 missense probably benign 0.00
PIT4696001:B9d1 UTSW 11 61505243 missense possibly damaging 0.69
R0494:B9d1 UTSW 11 61512445 unclassified probably benign
R3793:B9d1 UTSW 11 61507622 unclassified probably benign
R4227:B9d1 UTSW 11 61512657 missense probably damaging 1.00
R4789:B9d1 UTSW 11 61506360 missense probably benign
R4828:B9d1 UTSW 11 61507635 missense probably damaging 1.00
R4911:B9d1 UTSW 11 61507671 missense probably benign 0.25
R6526:B9d1 UTSW 11 61509097 nonsense probably null
R7841:B9d1 UTSW 11 61506366 missense possibly damaging 0.90
R7924:B9d1 UTSW 11 61506366 missense possibly damaging 0.90
Posted On2014-05-07