Incidental Mutation 'R4484:Bahd1'
ID |
331520 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bahd1
|
Ensembl Gene |
ENSMUSG00000040007 |
Gene Name |
bromo adjacent homology domain containing 1 |
Synonyms |
LOC228536 |
MMRRC Submission |
041740-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4484 (G1)
|
Quality Score |
225 |
Status
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (46/47) |
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 |
Aox4 |
T |
C |
1: 58,301,730 (GRCm39) |
C1101R |
probably damaging |
Het |
Atp8b5 |
T |
C |
4: 43,357,016 (GRCm39) |
I588T |
probably damaging |
Het |
Cd164l2 |
T |
A |
4: 132,950,986 (GRCm39) |
V147E |
probably damaging |
Het |
Celsr3 |
G |
A |
9: 108,723,262 (GRCm39) |
|
probably null |
Het |
Cr2 |
T |
C |
1: 194,836,482 (GRCm39) |
T894A |
probably damaging |
Het |
Crtc3 |
T |
C |
7: 80,239,696 (GRCm39) |
D552G |
probably damaging |
Het |
Cspg4b |
A |
T |
13: 113,455,733 (GRCm39) |
N593I |
probably damaging |
Het |
Cyp2c50 |
A |
G |
19: 40,079,083 (GRCm39) |
E142G |
probably damaging |
Het |
Dcstamp |
A |
G |
15: 39,617,620 (GRCm39) |
I10V |
probably benign |
Het |
Gm44501 |
T |
A |
17: 40,887,507 (GRCm39) |
F8L |
unknown |
Het |
Gpr179 |
T |
C |
11: 97,226,537 (GRCm39) |
S1873G |
probably benign |
Het |
Gprin2 |
C |
A |
14: 33,916,754 (GRCm39) |
A339S |
probably benign |
Het |
Gucy1b2 |
T |
A |
14: 62,649,038 (GRCm39) |
I513F |
possibly damaging |
Het |
Ighv5-6 |
T |
A |
12: 113,589,208 (GRCm39) |
R91* |
probably null |
Het |
Igtp |
G |
A |
11: 58,097,824 (GRCm39) |
V332I |
possibly damaging |
Het |
Itfg1 |
G |
A |
8: 86,452,878 (GRCm39) |
P497S |
probably damaging |
Het |
Junb |
T |
C |
8: 85,704,517 (GRCm39) |
N181S |
possibly damaging |
Het |
Lama3 |
T |
C |
18: 12,614,145 (GRCm39) |
Y1305H |
probably benign |
Het |
Lrrcc1 |
A |
T |
3: 14,616,503 (GRCm39) |
N44I |
probably damaging |
Het |
Med15 |
A |
T |
16: 17,489,428 (GRCm39) |
|
probably benign |
Het |
Mkks |
T |
C |
2: 136,722,494 (GRCm39) |
E221G |
probably benign |
Het |
Mtmr10 |
T |
C |
7: 63,970,379 (GRCm39) |
V374A |
possibly damaging |
Het |
Muc5b |
G |
T |
7: 141,422,187 (GRCm39) |
C4441F |
possibly damaging |
Het |
Nim1k |
G |
A |
13: 120,173,710 (GRCm39) |
Q395* |
probably null |
Het |
Nlrp6 |
A |
G |
7: 140,501,694 (GRCm39) |
D87G |
probably damaging |
Het |
Ntng1 |
C |
A |
3: 110,051,124 (GRCm39) |
|
probably benign |
Het |
Padi1 |
G |
T |
4: 140,544,581 (GRCm39) |
|
probably benign |
Het |
Rxrg |
T |
C |
1: 167,452,596 (GRCm39) |
S133P |
probably benign |
Het |
Snx19 |
T |
C |
9: 30,339,192 (GRCm39) |
I110T |
probably benign |
Het |
Strap |
T |
C |
6: 137,726,334 (GRCm39) |
|
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,631,831 (GRCm39) |
D890G |
probably benign |
Het |
Tgtp2 |
A |
T |
11: 48,950,179 (GRCm39) |
M131K |
probably damaging |
Het |
Tppp2 |
T |
C |
14: 52,156,868 (GRCm39) |
F82L |
probably damaging |
Het |
Ttc39c |
A |
G |
18: 12,863,126 (GRCm39) |
K397E |
possibly damaging |
Het |
Txlnb |
T |
TTA |
10: 17,714,745 (GRCm39) |
|
probably null |
Het |
Usp36 |
T |
A |
11: 118,176,621 (GRCm39) |
R66W |
probably damaging |
Het |
Vmn1r30 |
A |
T |
6: 58,412,118 (GRCm39) |
V238E |
probably damaging |
Het |
Vmn1r6 |
A |
G |
6: 56,980,174 (GRCm39) |
I279V |
probably benign |
Het |
Vmn2r61 |
G |
A |
7: 41,950,120 (GRCm39) |
D847N |
probably benign |
Het |
Zfp622 |
G |
A |
15: 25,987,137 (GRCm39) |
|
probably null |
Het |
Zfp963 |
T |
C |
8: 70,197,135 (GRCm39) |
I36V |
probably benign |
Het |
Zfy2 |
A |
G |
Y: 2,107,351 (GRCm39) |
Y428H |
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 |
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 |
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'- ACAGTTCTTGCCGTTGACC -3'
Sequencing Primer
(F):5'- CCAGTGAGGATGCTGGTCTC -3'
(R):5'- TTGACCTTTGGCCGCAG -3'
|
Posted On |
2015-07-21 |