Incidental Mutation 'R4261:Wdr91'
ID |
322650 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr91
|
Ensembl Gene |
ENSMUSG00000058486 |
Gene Name |
WD repeat domain 91 |
Synonyms |
9530020G05Rik |
MMRRC Submission |
041074-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.165)
|
Stock # |
R4261 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
34857361-34887766 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34881457 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 297
(S297C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138406
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081214]
[ENSMUST00000133336]
[ENSMUST00000146968]
[ENSMUST00000149448]
[ENSMUST00000152488]
|
AlphaFold |
Q7TMQ7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081214
AA Change: S297C
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000079974 Gene: ENSMUSG00000058486 AA Change: S297C
Domain | Start | End | E-Value | Type |
Blast:LisH
|
5 |
36 |
3e-6 |
BLAST |
coiled coil region
|
179 |
228 |
N/A |
INTRINSIC |
low complexity region
|
263 |
279 |
N/A |
INTRINSIC |
WD40
|
393 |
437 |
6.34e-2 |
SMART |
WD40
|
442 |
480 |
3.42e1 |
SMART |
Blast:WD40
|
483 |
525 |
1e-19 |
BLAST |
WD40
|
552 |
591 |
1.88e-4 |
SMART |
WD40
|
594 |
633 |
3.96e-3 |
SMART |
WD40
|
701 |
742 |
8.59e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133336
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134830
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145765
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146968
AA Change: S297C
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138406 Gene: ENSMUSG00000058486 AA Change: S297C
Domain | Start | End | E-Value | Type |
Blast:LisH
|
5 |
36 |
2e-6 |
BLAST |
coiled coil region
|
179 |
228 |
N/A |
INTRINSIC |
low complexity region
|
263 |
279 |
N/A |
INTRINSIC |
WD40
|
393 |
437 |
6.34e-2 |
SMART |
WD40
|
442 |
480 |
3.42e1 |
SMART |
Blast:WD40
|
483 |
525 |
1e-19 |
BLAST |
WD40
|
552 |
591 |
1.48e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149448
|
SMART Domains |
Protein: ENSMUSP00000120164 Gene: ENSMUSG00000058486
Domain | Start | End | E-Value | Type |
coiled coil region
|
127 |
176 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152488
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201569
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
96% (53/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
T |
C |
17: 9,214,066 (GRCm39) |
S298P |
probably damaging |
Het |
4930407I10Rik |
A |
G |
15: 81,947,927 (GRCm39) |
D608G |
possibly damaging |
Het |
Actr10 |
T |
C |
12: 70,999,759 (GRCm39) |
V185A |
probably benign |
Het |
Adam9 |
G |
A |
8: 25,454,923 (GRCm39) |
Q733* |
probably null |
Het |
Adamts4 |
C |
T |
1: 171,086,673 (GRCm39) |
P822S |
probably benign |
Het |
Arhgap9 |
G |
C |
10: 127,164,334 (GRCm39) |
R537P |
probably damaging |
Het |
Bsn |
T |
A |
9: 107,987,883 (GRCm39) |
|
probably benign |
Het |
Car5a |
A |
T |
8: 122,671,488 (GRCm39) |
H15Q |
probably benign |
Het |
Disp1 |
A |
T |
1: 182,870,950 (GRCm39) |
I490N |
probably damaging |
Het |
Dlgap5 |
T |
G |
14: 47,651,245 (GRCm39) |
Y96S |
probably damaging |
Het |
Dnah10 |
T |
A |
5: 124,807,201 (GRCm39) |
V162D |
possibly damaging |
Het |
Dock7 |
A |
T |
4: 98,892,123 (GRCm39) |
M821K |
possibly damaging |
Het |
Exoc3l |
T |
C |
8: 106,017,599 (GRCm39) |
R528G |
probably damaging |
Het |
Fam234b |
G |
A |
6: 135,186,134 (GRCm39) |
G17E |
unknown |
Het |
Grhl2 |
G |
A |
15: 37,361,067 (GRCm39) |
G617D |
possibly damaging |
Het |
Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
Hoxd9 |
C |
A |
2: 74,526,031 (GRCm39) |
|
probably benign |
Het |
Hspa9 |
A |
G |
18: 35,072,476 (GRCm39) |
S550P |
probably damaging |
Het |
Ide |
A |
C |
19: 37,306,585 (GRCm39) |
S63A |
unknown |
Het |
Kat6b |
T |
A |
14: 21,719,737 (GRCm39) |
I1363N |
probably damaging |
Het |
Ltbp1 |
T |
A |
17: 75,598,362 (GRCm39) |
C614* |
probably null |
Het |
Mphosph8 |
A |
G |
14: 56,911,922 (GRCm39) |
D315G |
probably benign |
Het |
Mthfr-ps1 |
A |
C |
5: 78,622,330 (GRCm39) |
|
noncoding transcript |
Het |
Mug1 |
A |
G |
6: 121,850,693 (GRCm39) |
T730A |
probably benign |
Het |
Myef2 |
T |
C |
2: 124,957,399 (GRCm39) |
T119A |
possibly damaging |
Het |
Pald1 |
A |
G |
10: 61,179,471 (GRCm39) |
L466P |
probably damaging |
Het |
Pcdh15 |
G |
A |
10: 74,481,512 (GRCm39) |
V286M |
probably damaging |
Het |
Pcdhgb2 |
A |
G |
18: 37,824,950 (GRCm39) |
D647G |
probably damaging |
Het |
Pdgfrb |
A |
C |
18: 61,210,703 (GRCm39) |
T737P |
probably benign |
Het |
Pgk2 |
T |
G |
17: 40,518,274 (GRCm39) |
T385P |
probably benign |
Het |
Pkp4 |
A |
G |
2: 59,135,506 (GRCm39) |
Y126C |
probably damaging |
Het |
Plppr1 |
A |
G |
4: 49,300,993 (GRCm39) |
I109V |
probably benign |
Het |
Ppcs |
A |
G |
4: 119,279,106 (GRCm39) |
F149L |
probably damaging |
Het |
Ppp2r5d |
G |
A |
17: 46,998,007 (GRCm39) |
Q219* |
probably null |
Het |
Raf1 |
C |
T |
6: 115,600,015 (GRCm39) |
|
probably null |
Het |
Rfx7 |
C |
T |
9: 72,523,925 (GRCm39) |
R372W |
probably damaging |
Het |
Robo4 |
C |
A |
9: 37,316,877 (GRCm39) |
S397R |
probably benign |
Het |
Sat1 |
T |
C |
X: 153,998,182 (GRCm39) |
|
probably benign |
Het |
Serpina1c |
T |
C |
12: 103,863,339 (GRCm39) |
K287R |
probably benign |
Het |
Sgsm2 |
T |
A |
11: 74,782,854 (GRCm39) |
H34L |
probably damaging |
Het |
Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,628,384 (GRCm39) |
Y14592F |
probably damaging |
Het |
Ube3b |
T |
C |
5: 114,536,489 (GRCm39) |
F245S |
possibly damaging |
Het |
Ugt3a1 |
G |
A |
15: 9,335,879 (GRCm39) |
|
probably null |
Het |
Zcwpw2 |
T |
C |
9: 117,827,982 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Wdr91 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01336:Wdr91
|
APN |
6 |
34,886,478 (GRCm39) |
splice site |
probably benign |
|
IGL01340:Wdr91
|
APN |
6 |
34,881,514 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01402:Wdr91
|
APN |
6 |
34,865,998 (GRCm39) |
missense |
probably benign |
|
IGL02632:Wdr91
|
APN |
6 |
34,865,977 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03104:Wdr91
|
APN |
6 |
34,882,491 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03169:Wdr91
|
APN |
6 |
34,882,426 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0080:Wdr91
|
UTSW |
6 |
34,883,620 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0082:Wdr91
|
UTSW |
6 |
34,883,620 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0422:Wdr91
|
UTSW |
6 |
34,857,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R1738:Wdr91
|
UTSW |
6 |
34,861,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R1993:Wdr91
|
UTSW |
6 |
34,869,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R1994:Wdr91
|
UTSW |
6 |
34,869,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R3115:Wdr91
|
UTSW |
6 |
34,882,522 (GRCm39) |
missense |
probably damaging |
0.98 |
R3116:Wdr91
|
UTSW |
6 |
34,882,522 (GRCm39) |
missense |
probably damaging |
0.98 |
R4760:Wdr91
|
UTSW |
6 |
34,885,234 (GRCm39) |
missense |
probably damaging |
0.96 |
R4977:Wdr91
|
UTSW |
6 |
34,887,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R5093:Wdr91
|
UTSW |
6 |
34,869,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R5910:Wdr91
|
UTSW |
6 |
34,868,422 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6788:Wdr91
|
UTSW |
6 |
34,863,754 (GRCm39) |
missense |
probably damaging |
0.99 |
R7139:Wdr91
|
UTSW |
6 |
34,885,198 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7195:Wdr91
|
UTSW |
6 |
34,866,209 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7268:Wdr91
|
UTSW |
6 |
34,869,375 (GRCm39) |
missense |
probably benign |
|
R7303:Wdr91
|
UTSW |
6 |
34,861,258 (GRCm39) |
missense |
probably benign |
0.01 |
R7326:Wdr91
|
UTSW |
6 |
34,881,561 (GRCm39) |
missense |
probably damaging |
0.99 |
R7341:Wdr91
|
UTSW |
6 |
34,868,395 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7362:Wdr91
|
UTSW |
6 |
34,866,050 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8098:Wdr91
|
UTSW |
6 |
34,863,817 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9424:Wdr91
|
UTSW |
6 |
34,861,302 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9664:Wdr91
|
UTSW |
6 |
34,865,961 (GRCm39) |
missense |
probably benign |
0.01 |
X0026:Wdr91
|
UTSW |
6 |
34,886,307 (GRCm39) |
missense |
probably benign |
0.03 |
Z1177:Wdr91
|
UTSW |
6 |
34,868,435 (GRCm39) |
missense |
probably benign |
0.30 |
|
Predicted Primers |
PCR Primer
(F):5'- GACATCACTGGCTGTAAGGTTG -3'
(R):5'- TGTGATTACTTGGCCAGAGC -3'
Sequencing Primer
(F):5'- AAGGTTGTGTGTTGCAGGGAAG -3'
(R):5'- CACTGGTGTGCAGCCAGAG -3'
|
Posted On |
2015-06-20 |