Incidental Mutation 'IGL02548:Bahd1'
ID297932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bahd1
Ensembl Gene ENSMUSG00000040007
Gene Namebromo adjacent homology domain containing 1
SynonymsLOC228536
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02548
Quality Score
Status
Chromosome2
Chromosomal Location118900377-118924528 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 118917045 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 382 (Q382K)
Ref Sequence ENSEMBL: ENSMUSP00000043130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036578] [ENSMUST00000151162]
Predicted Effect possibly damaging
Transcript: ENSMUST00000036578
AA Change: Q382K

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043130
Gene: ENSMUSG00000040007
AA Change: Q382K

DomainStartEndE-ValueType
low complexity region 86 108 N/A INTRINSIC
low complexity region 117 141 N/A INTRINSIC
low complexity region 299 310 N/A INTRINSIC
low complexity region 564 579 N/A INTRINSIC
BAH 616 771 1.17e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151162
SMART Domains Protein: ENSMUSP00000118998
Gene: ENSMUSG00000040007

DomainStartEndE-ValueType
low complexity region 86 108 N/A INTRINSIC
low complexity region 117 141 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased susceptibility to bacterial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G A 7: 46,005,262 A545V probably damaging Het
Adam29 A T 8: 55,872,867 L184* probably null Het
Ap1g1 C T 8: 109,849,622 A432V probably damaging Het
Atrn C T 2: 130,972,282 T716I probably damaging Het
B020004J07Rik T A 4: 101,835,573 Y410F probably damaging Het
Barhl2 A G 5: 106,455,525 V256A probably benign Het
Camta2 A G 11: 70,670,685 F1113L probably damaging Het
Cdh23 G T 10: 60,650,122 T38K probably benign Het
Cmtm3 T C 8: 104,344,805 L111P probably damaging Het
Col27a1 T C 4: 63,318,255 probably benign Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Flt1 C A 5: 147,639,248 R650L probably benign Het
Fpr1 T A 17: 17,876,653 E358V probably benign Het
Ggnbp2 A T 11: 84,862,286 N42K possibly damaging Het
Gldc T C 19: 30,099,899 T958A probably benign Het
Gm3573 A G 14: 42,187,495 probably null Het
Hspbp1 T C 7: 4,681,841 probably benign Het
Jhy G T 9: 40,917,175 Y478* probably null Het
Kiz A G 2: 146,870,770 E118G probably damaging Het
Klhdc1 A G 12: 69,253,718 Y144C probably benign Het
Lamc3 A T 2: 31,920,662 Y848F probably benign Het
Mixl1 T C 1: 180,694,704 E204G probably benign Het
Muc2 T A 7: 141,751,857 C202S probably damaging Het
Nfatc1 T C 18: 80,697,898 S282G probably damaging Het
Olfr1465 T C 19: 13,313,938 M116V probably damaging Het
Olfr175-ps1 C A 16: 58,824,328 C127F probably benign Het
Olfr531 T A 7: 140,400,662 Y128F probably damaging Het
Orc2 A T 1: 58,466,122 probably benign Het
Pcdhb10 T C 18: 37,412,690 I273T probably benign Het
Pdzph1 G A 17: 58,973,391 T632I probably benign Het
Phf1 A G 17: 26,935,626 Y225C probably damaging Het
Prcp T C 7: 92,901,174 F60L probably damaging Het
Psg21 C T 7: 18,655,036 V44I possibly damaging Het
Ptgdr C T 14: 44,858,614 V214M probably damaging Het
Pth1r G A 9: 110,727,680 R181W probably damaging Het
Ralgapb A G 2: 158,444,665 I343M probably damaging Het
Retreg1 C T 15: 25,895,118 Q128* probably null Het
Rrbp1 T C 2: 143,949,759 probably benign Het
Skint5 T A 4: 113,731,076 M726L unknown Het
Slc6a18 T C 13: 73,669,995 Y301C probably damaging Het
Slc8a3 G A 12: 81,204,156 probably benign Het
Tacr3 C A 3: 134,829,471 Q67K probably damaging Het
Tfrc A T 16: 32,624,822 K534* probably null Het
Timp3 T A 10: 86,338,451 M67K probably benign Het
Tmem120a C T 5: 135,736,774 E179K probably damaging Het
Tomm40l G A 1: 171,221,647 probably benign Het
Tubal3 A G 13: 3,930,554 R89G probably benign Het
Wdr35 A T 12: 9,024,297 N976I probably benign Het
Zfp292 T C 4: 34,805,416 T2543A probably damaging Het
Zfp976 T A 7: 42,612,529 H628L unknown Het
Zmynd8 A G 2: 165,833,405 V301A probably damaging Het
Other mutations in Bahd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02113:Bahd1 APN 2 118917205 missense probably benign 0.01
IGL02425:Bahd1 APN 2 118919164 missense probably benign 0.00
IGL03024:Bahd1 APN 2 118916116 missense probably damaging 1.00
R0932:Bahd1 UTSW 2 118915927 missense probably damaging 1.00
R1737:Bahd1 UTSW 2 118915923 missense probably damaging 1.00
R2845:Bahd1 UTSW 2 118922523 missense probably damaging 1.00
R2846:Bahd1 UTSW 2 118922523 missense probably damaging 1.00
R2899:Bahd1 UTSW 2 118916406 missense probably damaging 1.00
R2900:Bahd1 UTSW 2 118916406 missense probably damaging 1.00
R2966:Bahd1 UTSW 2 118916406 missense probably damaging 1.00
R2985:Bahd1 UTSW 2 118922523 missense probably damaging 1.00
R2986:Bahd1 UTSW 2 118922523 missense probably damaging 1.00
R3017:Bahd1 UTSW 2 118916406 missense probably damaging 1.00
R3018:Bahd1 UTSW 2 118916406 missense probably damaging 1.00
R3019:Bahd1 UTSW 2 118916406 missense probably damaging 1.00
R3020:Bahd1 UTSW 2 118916406 missense probably damaging 1.00
R3021:Bahd1 UTSW 2 118916406 missense probably damaging 1.00
R3033:Bahd1 UTSW 2 118916406 missense probably damaging 1.00
R3040:Bahd1 UTSW 2 118916406 missense probably damaging 1.00
R3431:Bahd1 UTSW 2 118922523 missense probably damaging 1.00
R3432:Bahd1 UTSW 2 118922523 missense probably damaging 1.00
R3617:Bahd1 UTSW 2 118922523 missense probably damaging 1.00
R4319:Bahd1 UTSW 2 118916406 missense probably damaging 1.00
R4394:Bahd1 UTSW 2 118922523 missense probably damaging 1.00
R4395:Bahd1 UTSW 2 118922523 missense probably damaging 1.00
R4418:Bahd1 UTSW 2 118922523 missense probably damaging 1.00
R4456:Bahd1 UTSW 2 118916406 missense probably damaging 1.00
R4462:Bahd1 UTSW 2 118916406 missense probably damaging 1.00
R4484:Bahd1 UTSW 2 118916406 missense probably damaging 1.00
R5537:Bahd1 UTSW 2 118915980 missense probably damaging 0.96
R5556:Bahd1 UTSW 2 118916270 missense probably damaging 1.00
R6490:Bahd1 UTSW 2 118917138 missense probably benign 0.01
R6736:Bahd1 UTSW 2 118915975 missense possibly damaging 0.54
R7604:Bahd1 UTSW 2 118916310 missense probably benign
Z1176:Bahd1 UTSW 2 118922403 missense probably damaging 1.00
Posted On2015-04-16