Incidental Mutation 'R3033:Bahd1'
| ID |
263334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bahd1
|
| Ensembl Gene |
ENSMUSG00000040007 |
| Gene Name |
bromo adjacent homology domain containing 1 |
| Synonyms |
LOC228536 |
| MMRRC Submission |
040549-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3033 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
118730858-118755009 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 118746887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 169
(P169S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036578]
[ENSMUST00000151162]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036578
AA Change: P169S
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000043130
Gene: ENSMUSG00000040007
AA Change: P169S
| 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: P169S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118998
Gene: ENSMUSG00000040007
AA Change: P169S
| 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 |
0.0661 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,184,227 (GRCm39) |
D591G |
probably benign |
Het |
| Aqp4 |
T |
A |
18: 15,526,617 (GRCm39) |
E288V |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,562,943 (GRCm39) |
Y894C |
probably damaging |
Het |
| Dennd4c |
AGGAGCTCCTGGAGC |
AGGAGC |
4: 86,743,557 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,150,333 (GRCm39) |
D810G |
probably benign |
Het |
| Dst |
T |
C |
1: 34,191,366 (GRCm39) |
I222T |
probably damaging |
Het |
| Eif4g3 |
A |
T |
4: 137,830,721 (GRCm39) |
T159S |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,219,734 (GRCm39) |
E1002G |
possibly damaging |
Het |
| Gm5414 |
T |
C |
15: 101,533,044 (GRCm39) |
E461G |
probably damaging |
Het |
| Heatr5a |
A |
T |
12: 51,997,821 (GRCm39) |
C359* |
probably null |
Het |
| Ift88 |
G |
A |
14: 57,715,501 (GRCm39) |
D515N |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,733,160 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
T |
C |
11: 58,275,453 (GRCm39) |
Y63H |
probably damaging |
Het |
| Mcm3 |
A |
T |
1: 20,878,992 (GRCm39) |
Y594N |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,568,966 (GRCm39) |
M322V |
probably benign |
Het |
| Neurl2 |
T |
C |
2: 164,674,975 (GRCm39) |
E129G |
probably benign |
Het |
| Nr2f2 |
A |
G |
7: 70,007,810 (GRCm39) |
V71A |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,981,613 (GRCm39) |
|
probably null |
Het |
| Selenbp1 |
T |
C |
3: 94,845,351 (GRCm39) |
V149A |
probably benign |
Het |
| Smg9 |
A |
G |
7: 24,115,949 (GRCm39) |
D280G |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,912 (GRCm39) |
D555G |
probably damaging |
Het |
| Tomm70a |
G |
A |
16: 56,942,388 (GRCm39) |
G55D |
probably damaging |
Het |
| Tpte |
T |
A |
8: 22,810,888 (GRCm39) |
S182T |
possibly damaging |
Het |
| Zfp58 |
T |
C |
13: 67,639,741 (GRCm39) |
E250G |
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 |
|
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 |
|
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'- TGACTCGCCTGGAAAACGTG -3'
(R):5'- GGACAGTTCTTGCCGTTGAC -3'
Sequencing Primer
(F):5'- CCAGTGAGGATGCTGGTCTC -3'
(R):5'- TTGACCTTTGGCCGCAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation