Incidental Mutation 'R4789:B9d1'
ID 367339
Institutional Source Beutler Lab
Gene Symbol B9d1
Ensembl Gene ENSMUSG00000001039
Gene Name B9 protein domain 1
Synonyms Eppb9, B9
Accession Numbers
Essential gene? Probably essential (E-score: 0.776) question?
Stock # R4789 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 61395970-61403757 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61397186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 27 (D27G)
Ref Sequence ENSEMBL: ENSMUSP00000099717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102657] [ENSMUST00000127889]
AlphaFold Q9R1S0
Predicted Effect probably benign
Transcript: ENSMUST00000102657
AA Change: D27G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099717
Gene: ENSMUSG00000001039
AA Change: D27G

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: ENSMUST00000155176
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik C A 7: 115,692,757 (GRCm39) D20E probably benign Het
Abcb9 T A 5: 124,216,853 (GRCm39) M455L probably benign Het
Add2 G A 6: 86,095,752 (GRCm39) V475M probably benign Het
Apoh T A 11: 108,300,064 (GRCm39) Y238N probably damaging Het
Arpp21 A G 9: 111,896,360 (GRCm39) S681P probably benign Het
Atp1a3 A C 7: 24,698,389 (GRCm39) F149C probably damaging Het
Bfar T A 16: 13,503,001 (GRCm39) M1K probably null Het
Bok T C 1: 93,616,963 (GRCm39) V103A probably damaging Het
Brca1 A C 11: 101,414,758 (GRCm39) H1125Q probably benign Het
Card9 T A 2: 26,247,632 (GRCm39) M218L probably damaging Het
Cers1 T C 8: 70,776,018 (GRCm39) V303A probably damaging Het
Col6a5 T C 9: 105,814,534 (GRCm39) I493V unknown Het
Coro7 T C 16: 4,446,085 (GRCm39) Y880C probably damaging Het
Cyp2b19 T C 7: 26,463,801 (GRCm39) Y318H probably benign Het
Dennd3 T A 15: 73,394,131 (GRCm39) L52Q probably damaging Het
Dlat A T 9: 50,570,670 (GRCm39) C33S probably benign Het
Dmxl2 T A 9: 54,287,099 (GRCm39) Q2646L probably benign Het
Dnah3 T C 7: 119,610,295 (GRCm39) N1703D probably damaging Het
Dock10 T A 1: 80,518,998 (GRCm39) H1241L probably damaging Het
Fbxl17 T G 17: 63,794,910 (GRCm39) I391L probably benign Het
Fdxacb1 A G 9: 50,681,418 (GRCm39) D113G possibly damaging Het
Flii A G 11: 60,605,919 (GRCm39) S1185P probably benign Het
Gm14496 A T 2: 181,637,577 (GRCm39) Q217L possibly damaging Het
Heatr9 A T 11: 83,410,018 (GRCm39) D74E probably benign Het
Heca C A 10: 17,783,895 (GRCm39) E91* probably null Het
Ikzf4 T G 10: 128,468,575 (GRCm39) T635P probably benign Het
Kif17 C T 4: 138,008,688 (GRCm39) P382S probably damaging Het
Kmt5b T C 19: 3,865,330 (GRCm39) V775A probably benign Het
Mapk8ip2 T A 15: 89,343,241 (GRCm39) F661Y probably damaging Het
Mapkap1 A G 2: 34,423,859 (GRCm39) E111G possibly damaging Het
Med9 T A 11: 59,839,266 (GRCm39) N58K probably benign Het
Mid2 T A X: 139,578,981 (GRCm39) Y61N probably damaging Het
Mief1 T A 15: 80,132,080 (GRCm39) Y50* probably null Het
Mios T C 6: 8,235,429 (GRCm39) M859T probably benign Het
Muc5ac G T 7: 141,352,619 (GRCm39) C702F possibly damaging Het
Nkiras1 T C 14: 18,276,935 (GRCm38) probably benign Het
Or11i1 A C 3: 106,729,608 (GRCm39) I89R possibly damaging Het
Or11i1 T A 3: 106,729,624 (GRCm39) M84L possibly damaging Het
Or56a3b T G 7: 104,771,520 (GRCm39) H285Q probably null Het
Or5ae2 T A 7: 84,506,509 (GRCm39) C311S probably benign Het
Pcsk5 C T 19: 17,410,963 (GRCm39) V1810M probably benign Het
Pex1 T C 5: 3,680,270 (GRCm39) V964A probably damaging Het
Pgm2l1 A T 7: 99,916,794 (GRCm39) M471L probably benign Het
Pkd1l2 T C 8: 117,738,314 (GRCm39) T2182A probably damaging Het
Plscr1l1 G A 9: 92,233,084 (GRCm39) C69Y probably damaging Het
Polr1b T A 2: 128,951,257 (GRCm39) I290K probably benign Het
Prkg1 T A 19: 31,563,045 (GRCm39) M119L probably damaging Het
Rbl1 A G 2: 157,019,275 (GRCm39) V490A probably benign Het
Shtn1 G C 19: 59,039,305 (GRCm39) R45G probably damaging Het
Slc10a6 T A 5: 103,776,848 (GRCm39) Y84F probably benign Het
Slc25a23 T C 17: 57,366,597 (GRCm39) D26G probably damaging Het
Slc41a2 T C 10: 83,152,320 (GRCm39) K52E probably damaging Het
Slc4a5 T C 6: 83,247,951 (GRCm39) F501L probably benign Het
Slfn5 T A 11: 82,847,226 (GRCm39) M37K probably benign Het
Sptbn1 A C 11: 30,067,759 (GRCm39) F1818L probably benign Het
Taf3 T C 2: 9,956,770 (GRCm39) T466A probably damaging Het
Thbs2 C T 17: 14,891,750 (GRCm39) G929D probably damaging Het
Tmc3 A T 7: 83,271,746 (GRCm39) D995V probably damaging Het
Tmem262 T C 19: 6,130,452 (GRCm39) F59L possibly damaging Het
Triobp A G 15: 78,875,228 (GRCm39) D137G probably damaging Het
Tspear T C 10: 77,702,199 (GRCm39) F211L possibly damaging Het
Ttn A T 2: 76,728,670 (GRCm39) probably benign Het
Ugt2b5 T A 5: 87,287,550 (GRCm39) M206L probably benign Het
Ush1g A T 11: 115,209,466 (GRCm39) S243T probably damaging Het
Usp19 A T 9: 108,370,433 (GRCm39) T86S possibly damaging Het
Wdhd1 A G 14: 47,506,149 (GRCm39) V255A probably benign Het
Wdr11 G A 7: 129,220,394 (GRCm39) W594* probably null Het
Wnk3 T A X: 149,993,933 (GRCm39) Y331* probably null Het
Zfp429 A T 13: 67,538,523 (GRCm39) I307K probably benign Het
Zkscan14 T A 5: 145,132,444 (GRCm39) K362N probably damaging Het
Other mutations in B9d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:B9d1 APN 11 61,403,504 (GRCm39) missense possibly damaging 0.77
IGL01878:B9d1 APN 11 61,398,449 (GRCm39) unclassified probably benign
IGL01944:B9d1 APN 11 61,403,205 (GRCm39) missense probably benign 0.00
PIT4696001:B9d1 UTSW 11 61,396,069 (GRCm39) missense possibly damaging 0.69
R0494:B9d1 UTSW 11 61,403,271 (GRCm39) unclassified probably benign
R3793:B9d1 UTSW 11 61,398,448 (GRCm39) unclassified probably benign
R4227:B9d1 UTSW 11 61,403,483 (GRCm39) missense probably damaging 1.00
R4828:B9d1 UTSW 11 61,398,461 (GRCm39) missense probably damaging 1.00
R4911:B9d1 UTSW 11 61,398,497 (GRCm39) missense probably benign 0.25
R6526:B9d1 UTSW 11 61,399,923 (GRCm39) nonsense probably null
R7841:B9d1 UTSW 11 61,397,192 (GRCm39) missense possibly damaging 0.90
Z1186:B9d1 UTSW 11 61,396,029 (GRCm39) unclassified probably benign
Z1187:B9d1 UTSW 11 61,396,029 (GRCm39) unclassified probably benign
Z1188:B9d1 UTSW 11 61,396,029 (GRCm39) unclassified probably benign
Z1189:B9d1 UTSW 11 61,396,029 (GRCm39) unclassified probably benign
Z1190:B9d1 UTSW 11 61,396,029 (GRCm39) unclassified probably benign
Z1191:B9d1 UTSW 11 61,396,029 (GRCm39) unclassified probably benign
Z1192:B9d1 UTSW 11 61,396,029 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TTGGCAGTCTGGGACTAAGC -3'
(R):5'- TACACCAGCGAACCCAGTAGTG -3'

Sequencing Primer
(F):5'- AGTCTGGGACTAAGCCTGACTTC -3'
(R):5'- TGTATTCTATAAACTAGCTTTCCCCC -3'
Posted On 2015-12-29