Incidental Mutation 'R0048:Wdr76'
| ID |
201279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr76
|
| Ensembl Gene |
ENSMUSG00000027242 |
| Gene Name |
WD repeat domain 76 |
| Synonyms |
5830411K18Rik |
| MMRRC Submission |
038342-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R0048 (G1)
|
| Quality Score |
56 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121337204-121375341 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 121365900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028676]
[ENSMUST00000099473]
[ENSMUST00000110602]
[ENSMUST00000110603]
|
| AlphaFold |
A6PWY4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028676
|
| SMART Domains |
Protein: ENSMUSP00000028676
Gene: ENSMUSG00000027242
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
154 |
N/A |
INTRINSIC |
|
WD40
|
205 |
244 |
8.59e-1 |
SMART |
|
WD40
|
249 |
289 |
1.63e-4 |
SMART |
|
WD40
|
292 |
331 |
1.98e1 |
SMART |
|
WD40
|
336 |
375 |
4.75e1 |
SMART |
|
WD40
|
383 |
423 |
9.24e-4 |
SMART |
|
low complexity region
|
424 |
435 |
N/A |
INTRINSIC |
|
WD40
|
479 |
520 |
2.28e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099473
|
| SMART Domains |
Protein: ENSMUSP00000097072
Gene: ENSMUSG00000027242
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
170 |
N/A |
INTRINSIC |
|
WD40
|
221 |
260 |
8.59e-1 |
SMART |
|
WD40
|
265 |
305 |
1.63e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110602
|
| SMART Domains |
Protein: ENSMUSP00000106232
Gene: ENSMUSG00000027242
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
154 |
N/A |
INTRINSIC |
|
WD40
|
205 |
244 |
8.59e-1 |
SMART |
|
WD40
|
249 |
289 |
1.63e-4 |
SMART |
|
WD40
|
292 |
331 |
1.98e1 |
SMART |
|
WD40
|
336 |
375 |
4.75e1 |
SMART |
|
WD40
|
383 |
423 |
9.24e-4 |
SMART |
|
low complexity region
|
424 |
435 |
N/A |
INTRINSIC |
|
WD40
|
479 |
520 |
2.28e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110603
|
| SMART Domains |
Protein: ENSMUSP00000106234
Gene: ENSMUSG00000027242
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
252 |
N/A |
INTRINSIC |
|
WD40
|
303 |
342 |
8.59e-1 |
SMART |
|
WD40
|
347 |
387 |
1.63e-4 |
SMART |
|
WD40
|
390 |
429 |
1.98e1 |
SMART |
|
WD40
|
434 |
473 |
4.75e1 |
SMART |
|
WD40
|
481 |
521 |
9.24e-4 |
SMART |
|
low complexity region
|
522 |
533 |
N/A |
INTRINSIC |
|
WD40
|
577 |
618 |
2.28e2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132373
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.3%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,140,563 (GRCm39) |
I299T |
probably benign |
Het |
| Ankrd12 |
A |
G |
17: 66,291,798 (GRCm39) |
S1212P |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,537,198 (GRCm39) |
S52P |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,415,803 (GRCm39) |
V777A |
possibly damaging |
Het |
| Cblif |
G |
A |
19: 11,727,120 (GRCm39) |
V110M |
possibly damaging |
Het |
| Dppa2 |
A |
G |
16: 48,137,761 (GRCm39) |
M248V |
probably benign |
Het |
| Fat2 |
G |
T |
11: 55,200,865 (GRCm39) |
H736Q |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,782,218 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,318,249 (GRCm39) |
S3865P |
possibly damaging |
Het |
| Iqgap3 |
A |
T |
3: 88,023,256 (GRCm39) |
T516S |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,133,789 (GRCm39) |
|
probably null |
Het |
| Lrrfip1 |
C |
T |
1: 91,021,369 (GRCm39) |
|
probably benign |
Het |
| Mfsd12 |
G |
A |
10: 81,198,648 (GRCm39) |
V380I |
possibly damaging |
Het |
| Mroh9 |
G |
A |
1: 162,890,056 (GRCm39) |
T227M |
probably damaging |
Het |
| Mtor |
C |
T |
4: 148,623,338 (GRCm39) |
Q2063* |
probably null |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Or13c3 |
C |
A |
4: 52,856,196 (GRCm39) |
A106S |
probably damaging |
Het |
| Ptgfr |
A |
G |
3: 151,540,728 (GRCm39) |
V260A |
possibly damaging |
Het |
| Raph1 |
T |
C |
1: 60,539,764 (GRCm39) |
K423E |
probably benign |
Het |
| Rbm27 |
A |
G |
18: 42,431,529 (GRCm39) |
D112G |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,610,670 (GRCm39) |
E4052G |
probably damaging |
Het |
| Sart3 |
G |
T |
5: 113,893,458 (GRCm39) |
D346E |
possibly damaging |
Het |
| Siglec1 |
T |
C |
2: 130,915,317 (GRCm39) |
T1425A |
possibly damaging |
Het |
| Snx25 |
A |
T |
8: 46,558,146 (GRCm39) |
|
probably benign |
Het |
| Son |
T |
A |
16: 91,455,865 (GRCm39) |
H1537Q |
possibly damaging |
Het |
| Tgfb1 |
T |
A |
7: 25,393,779 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,187,451 (GRCm39) |
N172Y |
probably damaging |
Het |
| Urah |
C |
T |
7: 140,416,665 (GRCm39) |
T46I |
probably damaging |
Het |
| Usp8 |
C |
T |
2: 126,579,809 (GRCm39) |
P353L |
probably damaging |
Het |
| Vamp2 |
A |
G |
11: 68,980,585 (GRCm39) |
D51G |
possibly damaging |
Het |
| Vmn1r67 |
G |
A |
7: 10,180,793 (GRCm39) |
G19E |
probably damaging |
Het |
| Wwox |
C |
A |
8: 115,166,570 (GRCm39) |
P20Q |
probably damaging |
Het |
|
| Other mutations in Wdr76 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01013:Wdr76
|
APN |
2 |
121,365,978 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01930:Wdr76
|
APN |
2 |
121,341,303 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03166:Wdr76
|
APN |
2 |
121,364,787 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL03242:Wdr76
|
APN |
2 |
121,372,951 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0048:Wdr76
|
UTSW |
2 |
121,365,900 (GRCm39) |
splice site |
probably benign |
|
|
R0049:Wdr76
|
UTSW |
2 |
121,349,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1575:Wdr76
|
UTSW |
2 |
121,359,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4400:Wdr76
|
UTSW |
2 |
121,359,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Wdr76
|
UTSW |
2 |
121,372,975 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5622:Wdr76
|
UTSW |
2 |
121,348,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5895:Wdr76
|
UTSW |
2 |
121,359,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6349:Wdr76
|
UTSW |
2 |
121,364,712 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R7229:Wdr76
|
UTSW |
2 |
121,359,401 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8302:Wdr76
|
UTSW |
2 |
121,341,044 (GRCm39) |
missense |
probably benign |
|
|
R8439:Wdr76
|
UTSW |
2 |
121,341,179 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8466:Wdr76
|
UTSW |
2 |
121,341,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8791:Wdr76
|
UTSW |
2 |
121,357,484 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8952:Wdr76
|
UTSW |
2 |
121,372,899 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8960:Wdr76
|
UTSW |
2 |
121,341,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9077:Wdr76
|
UTSW |
2 |
121,364,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9135:Wdr76
|
UTSW |
2 |
121,364,592 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9511:Wdr76
|
UTSW |
2 |
121,372,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGGAGAAACACACATCTCTGCC -3'
(R):5'- CAGTCAGCACATGTAGTCACCACTC -3'
Sequencing Primer
(F):5'- AGCTGTGTGTGACCTATAACC -3'
(R):5'- ATGTAGTCACCACTCTGTTACCAG -3'
|
| Posted On |
2014-05-28 |
Incidental Mutation