Incidental Mutation 'R0080:Wdr91'
| ID |
44236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr91
|
| Ensembl Gene |
ENSMUSG00000058486 |
| Gene Name |
WD repeat domain 91 |
| Synonyms |
9530020G05Rik |
| MMRRC Submission |
038367-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R0080 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
34857361-34887766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34883620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 132
(R132G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081214]
[ENSMUST00000133336]
[ENSMUST00000146968]
[ENSMUST00000149448]
[ENSMUST00000152488]
|
| AlphaFold |
Q7TMQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081214
AA Change: R184G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000079974
Gene: ENSMUSG00000058486
AA Change: R184G
| 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 |
possibly damaging
Transcript: ENSMUST00000133336
AA Change: R132G
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134830
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145765
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146968
AA Change: R184G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000138406
Gene: ENSMUSG00000058486
AA Change: R184G
| 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
AA Change: R132G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000120164
Gene: ENSMUSG00000058486
AA Change: R132G
| 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 |
0.0903 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 93.1%
- 20x: 79.7%
|
| Validation Efficiency |
88% (175/200) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732465J04Rik |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC |
10: 95,630,440 (GRCm39) |
|
probably null |
Het |
| Adam17 |
A |
C |
12: 21,379,049 (GRCm39) |
|
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,099,497 (GRCm39) |
|
probably benign |
Het |
| Adgb |
T |
C |
10: 10,253,583 (GRCm39) |
|
probably benign |
Het |
| Antkmt |
T |
C |
17: 26,010,548 (GRCm39) |
I89V |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,896,205 (GRCm39) |
D118G |
probably null |
Het |
| Coro7 |
A |
T |
16: 4,448,328 (GRCm39) |
L714Q |
probably damaging |
Het |
| D2hgdh |
A |
G |
1: 93,754,177 (GRCm39) |
Y50C |
probably damaging |
Het |
| Dsg1b |
T |
G |
18: 20,530,424 (GRCm39) |
S360A |
probably damaging |
Het |
| Ednra |
T |
C |
8: 78,401,688 (GRCm39) |
I201V |
probably benign |
Het |
| Ggt6 |
A |
G |
11: 72,328,021 (GRCm39) |
T136A |
possibly damaging |
Het |
| Gnb5 |
A |
T |
9: 75,221,636 (GRCm39) |
E28V |
possibly damaging |
Het |
| Golgb1 |
T |
C |
16: 36,718,973 (GRCm39) |
L293P |
probably damaging |
Het |
| Gpr179 |
A |
G |
11: 97,242,295 (GRCm39) |
V183A |
probably benign |
Het |
| Grk6 |
T |
C |
13: 55,606,723 (GRCm39) |
S474P |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,487,435 (GRCm39) |
S3477G |
probably benign |
Het |
| Hoatz |
T |
C |
9: 51,013,102 (GRCm39) |
T57A |
probably benign |
Het |
| Irx3 |
T |
C |
8: 92,526,954 (GRCm39) |
D250G |
possibly damaging |
Het |
| Jsrp1 |
T |
G |
10: 80,646,349 (GRCm39) |
M70L |
probably benign |
Het |
| Kcmf1 |
G |
T |
6: 72,827,470 (GRCm39) |
|
probably null |
Het |
| Med23 |
T |
C |
10: 24,788,715 (GRCm39) |
V1368A |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nos1 |
G |
T |
5: 118,031,943 (GRCm39) |
C297F |
probably damaging |
Het |
| Oas1d |
G |
A |
5: 121,054,955 (GRCm39) |
A176T |
possibly damaging |
Het |
| Odf2l |
A |
T |
3: 144,830,084 (GRCm39) |
I19F |
possibly damaging |
Het |
| Or6c1b |
T |
C |
10: 129,273,140 (GRCm39) |
I153T |
possibly damaging |
Het |
| Or6c209 |
G |
A |
10: 129,483,522 (GRCm39) |
C175Y |
probably benign |
Het |
| Pfkfb2 |
A |
T |
1: 130,642,279 (GRCm39) |
S5R |
probably benign |
Het |
| Pign |
G |
T |
1: 105,480,130 (GRCm39) |
A848E |
probably damaging |
Het |
| Pomgnt2 |
A |
T |
9: 121,811,326 (GRCm39) |
V485E |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,583,361 (GRCm39) |
K4764N |
probably damaging |
Het |
| Scgb1b19 |
A |
G |
7: 32,987,067 (GRCm39) |
T73A |
probably damaging |
Het |
| Slc35d3 |
T |
C |
10: 19,724,944 (GRCm39) |
E304G |
probably damaging |
Het |
| Snta1 |
A |
G |
2: 154,225,757 (GRCm39) |
V209A |
probably benign |
Het |
| Spdye4b |
A |
T |
5: 143,181,430 (GRCm39) |
D95V |
probably damaging |
Het |
| Srek1 |
T |
C |
13: 103,880,194 (GRCm39) |
T455A |
unknown |
Het |
| Tie1 |
T |
A |
4: 118,341,550 (GRCm39) |
E254V |
probably damaging |
Het |
| Tigd4 |
A |
G |
3: 84,501,452 (GRCm39) |
H123R |
probably benign |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Trim60 |
C |
T |
8: 65,453,251 (GRCm39) |
A333T |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,339 (GRCm39) |
R779S |
probably benign |
Het |
| Zfp445 |
A |
G |
9: 122,681,421 (GRCm39) |
V840A |
probably damaging |
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 |
|
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 |
|
R4261:Wdr91
|
UTSW |
6 |
34,881,457 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
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'- TGCTGCCTCGTTGCTCATGAAG -3'
(R):5'- TGAGTCCAGAAGAGTCAGGTGGTC -3'
Sequencing Primer
(F):5'- AATCTTACCAGAGCTGGTGC -3'
(R):5'- TCTAGAGTAGCAGGCCCAG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation