Incidental Mutation 'R4395:Bahd1'
ID |
325428 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bahd1
|
Ensembl Gene |
ENSMUSG00000040007 |
Gene Name |
bromo adjacent homology domain containing 1 |
Synonyms |
LOC228536 |
MMRRC Submission |
041684-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4395 (G1)
|
Quality Score |
209 |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
42 |
N/A |
INTRINSIC |
Pfam:Sulfotransfer_2
|
135 |
340 |
1.5e-41 |
PFAM |
|
Meta Mutation Damage Score |
0.8159 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acnat1 |
A |
G |
4: 49,447,679 (GRCm39) |
Y283H |
probably benign |
Het |
Adamtsl5 |
A |
G |
10: 80,180,736 (GRCm39) |
C109R |
probably damaging |
Het |
Adgrg4 |
T |
G |
X: 55,977,703 (GRCm39) |
L2193V |
probably damaging |
Het |
Alpk3 |
C |
T |
7: 80,744,703 (GRCm39) |
S1266F |
probably damaging |
Het |
Arfgef3 |
A |
G |
10: 18,473,457 (GRCm39) |
L1614P |
probably damaging |
Het |
Atm |
T |
C |
9: 53,376,527 (GRCm39) |
R2038G |
probably benign |
Het |
Capza2 |
T |
C |
6: 17,656,449 (GRCm39) |
|
probably null |
Het |
Cfap43 |
T |
C |
19: 47,740,352 (GRCm39) |
T1274A |
probably benign |
Het |
Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
Cisd3 |
A |
G |
11: 97,579,212 (GRCm39) |
Y115C |
probably damaging |
Het |
Crebl2 |
A |
G |
6: 134,826,208 (GRCm39) |
E53G |
probably damaging |
Het |
Ech1 |
T |
C |
7: 28,525,671 (GRCm39) |
S107P |
probably damaging |
Het |
Fam3b |
C |
A |
16: 97,282,986 (GRCm39) |
|
probably null |
Het |
Fat1 |
T |
A |
8: 45,405,383 (GRCm39) |
N711K |
probably damaging |
Het |
Grm8 |
T |
A |
6: 27,429,431 (GRCm39) |
I488F |
probably damaging |
Het |
Hmga2 |
C |
T |
10: 120,311,956 (GRCm39) |
G5S |
probably damaging |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Ifit3b |
G |
T |
19: 34,589,951 (GRCm39) |
E376* |
probably null |
Het |
Ints5 |
A |
G |
19: 8,873,808 (GRCm39) |
E589G |
probably damaging |
Het |
Iqsec2 |
C |
T |
X: 150,992,049 (GRCm39) |
T562I |
probably damaging |
Het |
Lamc3 |
A |
G |
2: 31,821,964 (GRCm39) |
E1304G |
probably benign |
Het |
Ltv1 |
T |
C |
10: 13,066,323 (GRCm39) |
Y101C |
probably benign |
Het |
Maf1 |
T |
C |
15: 76,236,357 (GRCm39) |
|
probably benign |
Het |
Map3k13 |
A |
T |
16: 21,717,321 (GRCm39) |
K185N |
possibly damaging |
Het |
Mtcl3 |
T |
C |
10: 29,023,351 (GRCm39) |
S233P |
probably benign |
Het |
Mtus2 |
A |
T |
5: 148,013,432 (GRCm39) |
Q75L |
probably benign |
Het |
Nod2 |
T |
A |
8: 89,391,019 (GRCm39) |
F427Y |
probably damaging |
Het |
Or1s2 |
A |
T |
19: 13,758,275 (GRCm39) |
I100F |
probably benign |
Het |
Or5p51 |
A |
G |
7: 107,444,469 (GRCm39) |
L157P |
probably damaging |
Het |
Pik3cg |
T |
C |
12: 32,254,091 (GRCm39) |
D632G |
probably damaging |
Het |
Plekhs1 |
A |
G |
19: 56,468,326 (GRCm39) |
D298G |
probably benign |
Het |
Rbm34 |
T |
C |
8: 127,676,131 (GRCm39) |
T375A |
probably benign |
Het |
Slc4a7 |
C |
T |
14: 14,765,665 (GRCm38) |
T549I |
probably damaging |
Het |
Slco1a7 |
T |
C |
6: 141,657,844 (GRCm39) |
I565V |
probably benign |
Het |
Stk17b |
A |
G |
1: 53,803,274 (GRCm39) |
I47T |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 35,915,451 (GRCm39) |
V2028I |
probably benign |
Het |
Tle4 |
A |
T |
19: 14,495,302 (GRCm39) |
H142Q |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tnxb |
C |
T |
17: 34,897,636 (GRCm39) |
Q804* |
probably null |
Het |
Trpm2 |
T |
C |
10: 77,765,053 (GRCm39) |
I983V |
probably benign |
Het |
Ttll8 |
C |
T |
15: 88,799,783 (GRCm39) |
A553T |
possibly damaging |
Het |
Ubxn11 |
G |
T |
4: 133,843,431 (GRCm39) |
E171D |
possibly damaging |
Het |
|
Other mutations in Bahd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
R2846: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 |
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'- GCTAAAAGCAGTTGTGGTATGTC -3'
(R):5'- CCAAGCTGAGGGTCTAGATACC -3'
Sequencing Primer
(F):5'- CACTGCAGATTCTGTGCCATGG -3'
(R):5'- AAGCTGAGGGTCTAGATACCTTTCTC -3'
|
Posted On |
2015-07-06 |