Incidental Mutation 'R3793:B9d1'
ID 272661
Institutional Source Beutler Lab
Gene Symbol B9d1
Ensembl Gene ENSMUSG00000001039
Gene Name B9 protein domain 1
Synonyms Eppb9, B9
MMRRC Submission 040755-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.776) question?
Stock # R3793 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 61395970-61403757 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 61398448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102657] [ENSMUST00000127889]
AlphaFold Q9R1S0
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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.4%
Validation Efficiency 98% (50/51)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,259,889 (GRCm39) T35A probably benign Het
Arhgap32 T A 9: 32,166,669 (GRCm39) S435R probably damaging Het
Asic1 A T 15: 99,569,906 (GRCm39) K76* probably null Het
Casd1 T C 6: 4,619,876 (GRCm39) V207A possibly damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cnfn T C 7: 25,067,805 (GRCm39) N45S probably benign Het
Col14a1 G T 15: 55,226,909 (GRCm39) D220Y unknown Het
Csn1s1 T A 5: 87,828,702 (GRCm39) Y274* probably null Het
Cyp2c69 T C 19: 39,869,600 (GRCm39) T140A probably benign Het
Dlg2 A T 7: 91,459,743 (GRCm39) probably benign Het
Esp16 T C 17: 39,848,739 (GRCm39) I11T possibly damaging Het
Esyt3 A T 9: 99,197,334 (GRCm39) F832Y possibly damaging Het
Ift172 C T 5: 31,414,925 (GRCm39) D1366N possibly damaging Het
Itga4 A G 2: 79,109,472 (GRCm39) T224A probably benign Het
Itprid1 A T 6: 55,952,588 (GRCm39) M844L possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Krt71 C T 15: 101,651,345 (GRCm39) S46N probably damaging Het
Lhx1 A G 11: 84,412,726 (GRCm39) S65P probably benign Het
Lingo4 A G 3: 94,309,685 (GRCm39) S208G probably benign Het
Lrrc2 T A 9: 110,795,585 (GRCm39) C123* probably null Het
Nfrkb A T 9: 31,321,228 (GRCm39) probably benign Het
Nfx1 T A 4: 41,004,357 (GRCm39) C709* probably null Het
Nlrp14 A T 7: 106,781,481 (GRCm39) Q226L probably benign Het
Ocln T C 13: 100,635,402 (GRCm39) R496G possibly damaging Het
Or2b2b T C 13: 21,859,153 (GRCm39) probably null Het
Or7e173 T A 9: 19,938,359 (GRCm39) I292F probably damaging Het
Osgepl1 T C 1: 53,359,406 (GRCm39) I305T probably damaging Het
Ovgp1 A G 3: 105,887,487 (GRCm39) N266S probably benign Het
Per1 A G 11: 69,000,127 (GRCm39) E1273G probably benign Het
Plch1 A G 3: 63,605,252 (GRCm39) Y1542H probably damaging Het
Pold1 A G 7: 44,190,994 (GRCm39) F252L probably damaging Het
Ptk2b A T 14: 66,407,700 (GRCm39) D607E probably damaging Het
Sdf4 T A 4: 156,086,916 (GRCm39) probably null Het
Sirt4 T C 5: 115,618,351 (GRCm39) D241G probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slco1b2 A G 6: 141,622,033 (GRCm39) Y531C probably damaging Het
Tmem200a A T 10: 25,870,087 (GRCm39) S61T probably damaging Het
Trp53bp1 T C 2: 121,030,810 (GRCm39) I1784V probably damaging Het
Uba2 A C 7: 33,845,722 (GRCm39) V467G probably damaging Het
Ubr3 T C 2: 69,747,525 (GRCm39) S263P possibly damaging Het
Ugt2b35 A G 5: 87,149,465 (GRCm39) T239A probably benign Het
Wac T C 18: 7,920,190 (GRCm39) V348A possibly damaging Het
Wdr3 A T 3: 100,059,281 (GRCm39) M346K probably benign Het
Zfp607a A T 7: 27,578,331 (GRCm39) H467L probably benign 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
R4227:B9d1 UTSW 11 61,403,483 (GRCm39) missense probably damaging 1.00
R4789:B9d1 UTSW 11 61,397,186 (GRCm39) missense probably benign
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'- AGCTAGAGTGTATGACTAACTGGG -3'
(R):5'- AAGCTGGGGCACAAACTCAG -3'

Sequencing Primer
(F):5'- CTAACTGGGAGGGAAGAATCTAGACC -3'
(R):5'- TGGGGCACAAACTCAGACACTG -3'
Posted On 2015-03-25