Incidental Mutation 'IGL01930:Wdr76'
| ID |
180411 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr76
|
| Ensembl Gene |
ENSMUSG00000027242 |
| Gene Name |
WD repeat domain 76 |
| Synonyms |
5830411K18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
IGL01930
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
121337204-121375341 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121341303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 116
(D116G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028676]
[ENSMUST00000089926]
[ENSMUST00000099473]
[ENSMUST00000110602]
[ENSMUST00000110603]
|
| AlphaFold |
A6PWY4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028676
AA Change: D18G
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028676
Gene: ENSMUSG00000027242
AA Change: D18G
| 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: ENSMUST00000089926
|
| SMART Domains |
Protein: ENSMUSP00000087372
Gene: ENSMUSG00000068479
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
123 |
N/A |
INTRINSIC |
|
coiled coil region
|
134 |
150 |
N/A |
INTRINSIC |
|
Pfam:MFAP1
|
190 |
399 |
1.6e-81 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000099473
AA Change: D18G
|
| SMART Domains |
Protein: ENSMUSP00000097072
Gene: ENSMUSG00000027242
AA Change: D18G
| 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 |
possibly damaging
Transcript: ENSMUST00000110602
AA Change: D18G
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106232
Gene: ENSMUSG00000027242
AA Change: D18G
| 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 |
possibly damaging
Transcript: ENSMUST00000110603
AA Change: D116G
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106234
Gene: ENSMUSG00000027242
AA Change: D116G
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433N12Rik |
C |
T |
9: 3,134,875 (GRCm39) |
|
noncoding transcript |
Het |
| Acsf3 |
A |
G |
8: 123,507,085 (GRCm39) |
Y126C |
probably benign |
Het |
| Akr1c20 |
T |
A |
13: 4,557,647 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
T |
C |
2: 120,557,063 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpg |
C |
T |
19: 6,361,398 (GRCm39) |
A308V |
probably damaging |
Het |
| Dek |
T |
C |
13: 47,241,611 (GRCm39) |
I318V |
probably benign |
Het |
| Dvl1 |
A |
G |
4: 155,940,645 (GRCm39) |
M422V |
possibly damaging |
Het |
| Dync2i1 |
A |
G |
12: 116,189,583 (GRCm39) |
|
probably null |
Het |
| Erbin |
G |
A |
13: 103,977,680 (GRCm39) |
L626F |
probably damaging |
Het |
| Fa2h |
A |
T |
8: 112,075,936 (GRCm39) |
V229E |
possibly damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,036,397 (GRCm39) |
H193Q |
possibly damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gpr162 |
A |
G |
6: 124,838,575 (GRCm39) |
L25P |
possibly damaging |
Het |
| Hsd3b5 |
T |
C |
3: 98,529,475 (GRCm39) |
T52A |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,034,286 (GRCm39) |
V668D |
probably damaging |
Het |
| Or10j2 |
T |
C |
1: 173,098,177 (GRCm39) |
V145A |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,516,751 (GRCm39) |
T1042A |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,130,857 (GRCm39) |
S735P |
probably damaging |
Het |
| Serpina3n |
T |
A |
12: 104,375,231 (GRCm39) |
L101H |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,145,978 (GRCm39) |
D1674G |
probably damaging |
Het |
| Sval3 |
A |
G |
6: 41,949,455 (GRCm39) |
N98D |
probably benign |
Het |
| Tbc1d16 |
G |
A |
11: 119,046,901 (GRCm39) |
R449C |
possibly damaging |
Het |
| Tm7sf3 |
A |
C |
6: 146,512,431 (GRCm39) |
I321S |
possibly damaging |
Het |
| Tmem273 |
G |
A |
14: 32,538,814 (GRCm39) |
E92K |
probably benign |
Het |
| Trappc13 |
A |
G |
13: 104,284,586 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zscan18 |
T |
C |
7: 12,509,275 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation