Incidental Mutation 'R2846:Bahd1'
ID 251571
Institutional Source Beutler Lab
Gene Symbol Bahd1
Ensembl Gene ENSMUSG00000040007
Gene Name bromo adjacent homology domain containing 1
Synonyms LOC228536
MMRRC Submission 040439-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2846 (G1)
Quality Score 145
Status Not validated
Chromosome 2
Chromosomal Location 118730858-118755009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 118753004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 757 (R757H)
Ref Sequence ENSEMBL: ENSMUSP00000043130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036578] [ENSMUST00000099546] [ENSMUST00000110837]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000036578
AA Change: R757H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043130
Gene: ENSMUSG00000040007
AA Change: R757H

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: ENSMUST00000099546
SMART Domains Protein: ENSMUSP00000099579
Gene: ENSMUSG00000074916

DomainStartEndE-ValueType
low complexity region 18 42 N/A INTRINSIC
Pfam:Sulfotransfer_2 139 365 1.6e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110837
SMART Domains Protein: ENSMUSP00000106461
Gene: ENSMUSG00000074916

DomainStartEndE-ValueType
low complexity region 18 42 N/A INTRINSIC
Pfam:Sulfotransfer_2 135 340 1.5e-41 PFAM
Meta Mutation Damage Score 0.8159 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg4a G A X: 139,893,589 (GRCm39) E106K probably benign Het
Cdnf T A 2: 3,514,165 (GRCm39) M1K probably null Het
Ddx4 T A 13: 112,741,146 (GRCm39) K496M probably damaging Het
Dlg1 T C 16: 31,682,015 (GRCm39) S779P probably damaging Het
Dtna T A 18: 23,784,560 (GRCm39) probably null Het
Fhad1 G T 4: 141,632,279 (GRCm39) Q1287K probably benign Het
Gal3st2c A T 1: 93,924,122 (GRCm39) Q8L possibly damaging Het
Hsd3b1 T C 3: 98,760,094 (GRCm39) E299G probably damaging Het
Hydin T C 8: 111,245,746 (GRCm39) V2153A probably benign Het
Irs4 C A X: 140,507,336 (GRCm39) G287W probably damaging Het
Kif21a T C 15: 90,818,667 (GRCm39) I1570V probably benign Het
Kremen1 GG GGGCG 11: 5,151,793 (GRCm39) probably benign Het
Mark2 T C 19: 7,264,227 (GRCm39) E116G probably damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mindy4 T C 6: 55,255,085 (GRCm39) V521A probably damaging Het
Or10al3 T C 17: 38,011,714 (GRCm39) I51T probably damaging Het
Or1e25 A T 11: 73,494,209 (GRCm39) T268S probably benign Het
Pdgfrb C T 18: 61,197,088 (GRCm39) P175S probably benign Het
Pign C A 1: 105,585,521 (GRCm39) L9F possibly damaging Het
Plekha1 G T 7: 130,510,095 (GRCm39) W280C probably damaging Het
Ppfia3 C A 7: 45,005,852 (GRCm39) R348L probably damaging Het
Prr12 G C 7: 44,695,436 (GRCm39) S1343R unknown Het
Psmd13 C A 7: 140,477,653 (GRCm39) probably benign Het
Qpct A G 17: 79,378,171 (GRCm39) T114A probably damaging Het
Sec24d A G 3: 123,144,395 (GRCm39) D624G probably damaging Het
Shank2 A G 7: 143,623,792 (GRCm39) Y259C probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Smarcb1 C A 10: 75,733,375 (GRCm39) R332L probably damaging Het
Ssh3 T C 19: 4,315,324 (GRCm39) Y338C probably damaging Het
St18 T A 1: 6,915,811 (GRCm39) C819S probably damaging Het
Tas2r124 A G 6: 132,732,230 (GRCm39) N180D possibly damaging Het
Tgfbr3l A G 8: 4,299,280 (GRCm39) D49G probably damaging Het
Tmem204 G A 17: 25,299,307 (GRCm39) H71Y probably benign Het
Vmn1r212 A G 13: 23,068,262 (GRCm39) S24P probably damaging Het
Vmn2r6 A G 3: 64,464,211 (GRCm39) S208P possibly damaging Het
Zbtb8os A T 4: 129,235,309 (GRCm39) E54D probably damaging Het
Zmiz1 A G 14: 25,646,099 (GRCm39) S259G probably benign Het
Other mutations in Bahd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02113:Bahd1 APN 2 118,747,686 (GRCm39) missense probably benign 0.01
IGL02425:Bahd1 APN 2 118,749,645 (GRCm39) missense probably benign 0.00
IGL02548:Bahd1 APN 2 118,747,526 (GRCm39) missense possibly damaging 0.79
IGL03024:Bahd1 APN 2 118,746,597 (GRCm39) missense probably damaging 1.00
R0932:Bahd1 UTSW 2 118,746,408 (GRCm39) missense probably damaging 1.00
R1737:Bahd1 UTSW 2 118,746,404 (GRCm39) missense probably damaging 1.00
R2845:Bahd1 UTSW 2 118,753,004 (GRCm39) missense probably damaging 1.00
R2899:Bahd1 UTSW 2 118,746,887 (GRCm39) missense probably damaging 1.00
R2900:Bahd1 UTSW 2 118,746,887 (GRCm39) missense probably damaging 1.00
R2966:Bahd1 UTSW 2 118,746,887 (GRCm39) missense probably damaging 1.00
R2985:Bahd1 UTSW 2 118,753,004 (GRCm39) missense probably damaging 1.00
R2986:Bahd1 UTSW 2 118,753,004 (GRCm39) missense probably damaging 1.00
R3017:Bahd1 UTSW 2 118,746,887 (GRCm39) missense probably damaging 1.00
R3018:Bahd1 UTSW 2 118,746,887 (GRCm39) missense probably damaging 1.00
R3019:Bahd1 UTSW 2 118,746,887 (GRCm39) missense probably damaging 1.00
R3020:Bahd1 UTSW 2 118,746,887 (GRCm39) missense probably damaging 1.00
R3021:Bahd1 UTSW 2 118,746,887 (GRCm39) missense probably damaging 1.00
R3033:Bahd1 UTSW 2 118,746,887 (GRCm39) missense probably damaging 1.00
R3040:Bahd1 UTSW 2 118,746,887 (GRCm39) missense probably damaging 1.00
R3431:Bahd1 UTSW 2 118,753,004 (GRCm39) missense probably damaging 1.00
R3432:Bahd1 UTSW 2 118,753,004 (GRCm39) missense probably damaging 1.00
R3617:Bahd1 UTSW 2 118,753,004 (GRCm39) missense probably damaging 1.00
R4319:Bahd1 UTSW 2 118,746,887 (GRCm39) missense probably damaging 1.00
R4394:Bahd1 UTSW 2 118,753,004 (GRCm39) missense probably damaging 1.00
R4395:Bahd1 UTSW 2 118,753,004 (GRCm39) missense probably damaging 1.00
R4418:Bahd1 UTSW 2 118,753,004 (GRCm39) missense probably damaging 1.00
R4456:Bahd1 UTSW 2 118,746,887 (GRCm39) missense probably damaging 1.00
R4462:Bahd1 UTSW 2 118,746,887 (GRCm39) missense probably damaging 1.00
R4484:Bahd1 UTSW 2 118,746,887 (GRCm39) missense probably damaging 1.00
R5537:Bahd1 UTSW 2 118,746,461 (GRCm39) missense probably damaging 0.96
R5556:Bahd1 UTSW 2 118,746,751 (GRCm39) missense probably damaging 1.00
R6490:Bahd1 UTSW 2 118,747,619 (GRCm39) missense probably benign 0.01
R6736:Bahd1 UTSW 2 118,746,456 (GRCm39) missense possibly damaging 0.54
R7604:Bahd1 UTSW 2 118,746,791 (GRCm39) missense probably benign
R8516:Bahd1 UTSW 2 118,747,452 (GRCm39) missense probably benign 0.03
R8956:Bahd1 UTSW 2 118,749,689 (GRCm39) missense probably damaging 1.00
Z1176:Bahd1 UTSW 2 118,752,884 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTCAGTGCCAGCTCAGTG -3'
(R):5'- AGCTGAGGGTCTAGATACCTTTC -3'

Sequencing Primer
(F):5'- CAGTGCCAGCTCAGTGTTAGG -3'
(R):5'- GAGGGTCTAGATACCTTTCTCATATC -3'
Posted On 2014-12-04