Incidental Mutation 'R3017:Bahd1'
| ID |
257660 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bahd1
|
| Ensembl Gene |
ENSMUSG00000040007 |
| Gene Name |
bromo adjacent homology domain containing 1 |
| Synonyms |
LOC228536 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3017 (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: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
T |
C |
1: 58,274,363 (GRCm39) |
V383A |
probably benign |
Het |
| Aplp1 |
A |
T |
7: 30,135,396 (GRCm39) |
|
probably null |
Het |
| Gmnc |
G |
A |
16: 26,779,165 (GRCm39) |
H281Y |
probably benign |
Het |
| Gusb |
T |
C |
5: 130,029,325 (GRCm39) |
D152G |
probably damaging |
Het |
| Kcnk4 |
A |
T |
19: 6,905,162 (GRCm39) |
V163E |
probably damaging |
Het |
| Lcmt1 |
T |
G |
7: 123,029,359 (GRCm39) |
L327W |
probably damaging |
Het |
| Med18 |
G |
A |
4: 132,187,128 (GRCm39) |
R124C |
probably damaging |
Het |
| Odf1 |
A |
G |
15: 38,226,675 (GRCm39) |
T192A |
unknown |
Het |
| Pitpna |
C |
T |
11: 75,483,016 (GRCm39) |
R8W |
probably damaging |
Het |
| Pkn1 |
A |
G |
8: 84,396,799 (GRCm39) |
Y951H |
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,658,327 (GRCm39) |
T193A |
possibly damaging |
Het |
| Ruvbl2 |
G |
T |
7: 45,071,588 (GRCm39) |
L432I |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,758,396 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
T |
A |
14: 50,600,178 (GRCm39) |
C721* |
probably null |
Het |
| Tubgcp6 |
A |
T |
15: 88,987,285 (GRCm39) |
C1229* |
probably null |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
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 |
|
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'- TGCTGACTCGCCTGGAAAAC -3'
(R):5'- AGCCTTGGGACAGTTCTTGC -3'
Sequencing Primer
(F):5'- CCAGTGAGGATGCTGGTCTC -3'
(R):5'- GGACAGTTCTTGCCGTTGACC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation