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)
|
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
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: 97.4%
- 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |