Incidental Mutation 'R0932:Bahd1'
ID |
80940 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bahd1
|
Ensembl Gene |
ENSMUSG00000040007 |
Gene Name |
bromo adjacent homology domain containing 1 |
Synonyms |
LOC228536 |
MMRRC Submission |
039076-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0932 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
118730858-118755009 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118746408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 9
(L9P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043130
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036578]
[ENSMUST00000151162]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036578
AA Change: L9P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043130 Gene: ENSMUSG00000040007 AA Change: L9P
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 damaging
Transcript: ENSMUST00000151162
AA Change: L9P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118998 Gene: ENSMUSG00000040007 AA Change: L9P
Domain | Start | End | E-Value | Type |
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
low complexity region
|
117 |
141 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1257 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.2%
- 20x: 97.1%
|
Validation Efficiency |
100% (42/42) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438H23Rik |
T |
C |
16: 90,852,995 (GRCm39) |
N47S |
probably benign |
Het |
AA986860 |
T |
C |
1: 130,665,430 (GRCm39) |
|
probably null |
Het |
Akap9 |
T |
A |
5: 4,096,492 (GRCm39) |
C2456S |
possibly damaging |
Het |
Anks3 |
C |
T |
16: 4,771,691 (GRCm39) |
R111H |
probably damaging |
Het |
Atp1a3 |
A |
T |
7: 24,687,401 (GRCm39) |
|
probably null |
Het |
Capn12 |
T |
C |
7: 28,587,123 (GRCm39) |
V364A |
possibly damaging |
Het |
Cds1 |
T |
A |
5: 101,944,891 (GRCm39) |
C122S |
probably damaging |
Het |
Cenpc1 |
T |
C |
5: 86,185,459 (GRCm39) |
T351A |
possibly damaging |
Het |
Cuzd1 |
T |
C |
7: 130,921,923 (GRCm39) |
|
probably benign |
Het |
Daxx |
T |
C |
17: 34,129,635 (GRCm39) |
L72P |
probably damaging |
Het |
Depdc1b |
A |
G |
13: 108,523,369 (GRCm39) |
I415V |
probably benign |
Het |
Dlg2 |
T |
C |
7: 92,024,845 (GRCm39) |
V675A |
probably damaging |
Het |
Dtx4 |
A |
G |
19: 12,469,515 (GRCm39) |
V204A |
probably benign |
Het |
Ganc |
T |
C |
2: 120,288,610 (GRCm39) |
V872A |
probably damaging |
Het |
Gm14403 |
A |
T |
2: 177,198,810 (GRCm39) |
R38W |
probably benign |
Het |
Gm4553 |
T |
C |
7: 141,719,423 (GRCm39) |
S2G |
unknown |
Het |
Gm8159 |
G |
A |
14: 4,635,226 (GRCm38) |
R148H |
possibly damaging |
Het |
Gsdmc3 |
T |
C |
15: 63,730,400 (GRCm39) |
|
probably null |
Het |
Ibtk |
C |
T |
9: 85,617,099 (GRCm39) |
G158R |
probably damaging |
Het |
Irx2 |
T |
A |
13: 72,779,675 (GRCm39) |
S320T |
possibly damaging |
Het |
Kctd7 |
A |
T |
5: 130,180,510 (GRCm39) |
|
probably null |
Het |
Kdr |
T |
C |
5: 76,129,465 (GRCm39) |
T141A |
probably benign |
Het |
Krt25 |
T |
A |
11: 99,212,109 (GRCm39) |
Q176L |
possibly damaging |
Het |
Krt71 |
T |
C |
15: 101,645,195 (GRCm39) |
N372S |
probably benign |
Het |
Mllt3 |
A |
G |
4: 87,707,621 (GRCm39) |
V446A |
probably damaging |
Het |
Or1j21 |
T |
A |
2: 36,683,903 (GRCm39) |
Y218* |
probably null |
Het |
Or4k38 |
A |
T |
2: 111,165,543 (GRCm39) |
D293E |
probably benign |
Het |
Or5p4 |
C |
T |
7: 107,680,727 (GRCm39) |
T242M |
probably damaging |
Het |
Or5p52 |
A |
C |
7: 107,502,397 (GRCm39) |
T158P |
possibly damaging |
Het |
Or9e1 |
T |
C |
11: 58,732,540 (GRCm39) |
V200A |
possibly damaging |
Het |
Poldip2 |
T |
C |
11: 78,403,294 (GRCm39) |
S18P |
possibly damaging |
Het |
Ptprd |
T |
G |
4: 76,055,122 (GRCm39) |
Q193P |
probably damaging |
Het |
Reck |
C |
T |
4: 43,922,838 (GRCm39) |
T371M |
possibly damaging |
Het |
Rnf144b |
G |
T |
13: 47,374,001 (GRCm39) |
R66L |
probably null |
Het |
Rpn2 |
T |
A |
2: 157,125,691 (GRCm39) |
D67E |
possibly damaging |
Het |
Scn11a |
A |
G |
9: 119,636,876 (GRCm39) |
F275S |
probably damaging |
Het |
Slc12a5 |
G |
A |
2: 164,838,805 (GRCm39) |
|
probably benign |
Het |
Snapc4 |
A |
G |
2: 26,264,658 (GRCm39) |
I253T |
probably damaging |
Het |
Tppp2 |
C |
T |
14: 52,157,881 (GRCm39) |
|
probably benign |
Het |
Usp9y |
A |
C |
Y: 1,315,930 (GRCm39) |
N2068K |
probably benign |
Het |
Vmn2r45 |
A |
G |
7: 8,478,380 (GRCm39) |
C536R |
probably 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 |
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 |
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'- GAGAATGGATTTGCCCATCCCCTAC -3'
(R):5'- CACTTTGCAGGCTTTGGGCTTC -3'
Sequencing Primer
(F):5'- GTCCTTGAACAGCTACTGAGAGTC -3'
(R):5'- CTCGGGAACCAGTGAACG -3'
|
Posted On |
2013-11-07 |