Incidental Mutation 'R0008:Wdr93'
| ID |
8102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr93
|
| Ensembl Gene |
ENSMUSG00000039099 |
| Gene Name |
WD repeat domain 93 |
| Synonyms |
EG626359 |
| MMRRC Submission |
038303-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R0008 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79392911-79435698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79408221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 234
(E234G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035622]
|
| AlphaFold |
Q402B2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035622
AA Change: E234G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000037467
Gene: ENSMUSG00000039099
AA Change: E234G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
240 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
274 |
N/A |
INTRINSIC |
|
SCOP:d1jofa_
|
389 |
607 |
7e-4 |
SMART |
|
Blast:WD40
|
413 |
451 |
2e-11 |
BLAST |
|
| Meta Mutation Damage Score |
0.1157 |
| Coding Region Coverage |
- 1x: 81.0%
- 3x: 72.4%
- 10x: 49.2%
- 20x: 28.4%
|
| Validation Efficiency |
90% (82/91) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,882,346 (GRCm39) |
K118R |
possibly damaging |
Het |
| Afap1l1 |
A |
G |
18: 61,889,976 (GRCm39) |
S87P |
probably benign |
Het |
| Ankrd27 |
A |
G |
7: 35,303,125 (GRCm39) |
K196R |
probably benign |
Het |
| Arrdc3 |
T |
A |
13: 81,039,194 (GRCm39) |
I75N |
probably damaging |
Het |
| Calcrl |
T |
C |
2: 84,203,618 (GRCm39) |
D54G |
probably benign |
Het |
| Cnot1 |
G |
T |
8: 96,487,969 (GRCm39) |
D562E |
probably damaging |
Het |
| Cp |
T |
A |
3: 20,022,287 (GRCm39) |
Y230N |
probably damaging |
Het |
| Dclre1c |
T |
C |
2: 3,439,032 (GRCm39) |
V64A |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,202,075 (GRCm39) |
L333H |
probably damaging |
Het |
| Hoxc11 |
T |
C |
15: 102,863,397 (GRCm39) |
V146A |
probably damaging |
Het |
| Il11 |
T |
C |
7: 4,776,658 (GRCm39) |
S111G |
probably benign |
Het |
| Ist1 |
A |
T |
8: 110,403,418 (GRCm39) |
I273K |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,346,895 (GRCm39) |
N784Y |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,462,716 (GRCm39) |
E648G |
probably damaging |
Het |
| Mtbp |
T |
A |
15: 55,449,889 (GRCm39) |
|
probably benign |
Het |
| Nat9 |
A |
T |
11: 115,075,941 (GRCm39) |
Y27N |
probably damaging |
Het |
| Nipsnap3b |
T |
A |
4: 53,015,112 (GRCm39) |
L53Q |
probably damaging |
Het |
| Nlrp3 |
A |
T |
11: 59,449,274 (GRCm39) |
H852L |
probably benign |
Het |
| Pax9 |
A |
G |
12: 56,756,528 (GRCm39) |
T289A |
probably benign |
Het |
| Pcyt2 |
A |
T |
11: 120,506,695 (GRCm39) |
I53N |
possibly damaging |
Het |
| Pdzph1 |
T |
A |
17: 59,229,756 (GRCm39) |
|
probably benign |
Het |
| Plekhm2 |
C |
T |
4: 141,369,704 (GRCm39) |
|
probably benign |
Het |
| Ppt1 |
T |
C |
4: 122,742,216 (GRCm39) |
|
probably benign |
Het |
| Prep |
T |
C |
10: 44,991,174 (GRCm39) |
V280A |
probably benign |
Het |
| Proser3 |
G |
A |
7: 30,239,563 (GRCm39) |
R514C |
probably damaging |
Het |
| Rbm45 |
T |
C |
2: 76,208,742 (GRCm39) |
Y293H |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,747,581 (GRCm39) |
L643P |
probably damaging |
Het |
| Slc1a1 |
G |
A |
19: 28,878,884 (GRCm39) |
G208S |
probably benign |
Het |
| Slc35b4 |
A |
T |
6: 34,135,452 (GRCm39) |
Y287N |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,283,302 (GRCm39) |
T260A |
probably damaging |
Het |
| Taf5 |
A |
G |
19: 47,064,301 (GRCm39) |
S415G |
possibly damaging |
Het |
| Tdp2 |
T |
G |
13: 25,025,333 (GRCm39) |
|
probably null |
Het |
| Tnrc6a |
G |
A |
7: 122,769,617 (GRCm39) |
R469H |
probably benign |
Het |
| Tox |
T |
A |
4: 6,842,411 (GRCm39) |
M40L |
probably benign |
Het |
| Trib2 |
A |
T |
12: 15,859,930 (GRCm39) |
H110Q |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,973,439 (GRCm39) |
I293T |
possibly damaging |
Het |
| Zfp385b |
A |
T |
2: 77,246,291 (GRCm39) |
S245R |
probably benign |
Het |
| Zfyve9 |
T |
A |
4: 108,575,902 (GRCm39) |
E393V |
possibly damaging |
Het |
|
| Other mutations in Wdr93 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00928:Wdr93
|
APN |
7 |
79,425,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01910:Wdr93
|
APN |
7 |
79,421,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01977:Wdr93
|
APN |
7 |
79,402,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01979:Wdr93
|
APN |
7 |
79,426,400 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02191:Wdr93
|
APN |
7 |
79,398,968 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0008:Wdr93
|
UTSW |
7 |
79,408,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1136:Wdr93
|
UTSW |
7 |
79,423,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Wdr93
|
UTSW |
7 |
79,398,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1586:Wdr93
|
UTSW |
7 |
79,418,109 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1605:Wdr93
|
UTSW |
7 |
79,421,257 (GRCm39) |
splice site |
probably null |
|
|
R1651:Wdr93
|
UTSW |
7 |
79,399,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3078:Wdr93
|
UTSW |
7 |
79,402,241 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3689:Wdr93
|
UTSW |
7 |
79,421,333 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4013:Wdr93
|
UTSW |
7 |
79,418,159 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4771:Wdr93
|
UTSW |
7 |
79,426,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4824:Wdr93
|
UTSW |
7 |
79,399,817 (GRCm39) |
nonsense |
probably null |
|
|
R4887:Wdr93
|
UTSW |
7 |
79,435,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5172:Wdr93
|
UTSW |
7 |
79,402,241 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5510:Wdr93
|
UTSW |
7 |
79,399,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5625:Wdr93
|
UTSW |
7 |
79,420,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5648:Wdr93
|
UTSW |
7 |
79,426,974 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5950:Wdr93
|
UTSW |
7 |
79,423,179 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6147:Wdr93
|
UTSW |
7 |
79,408,245 (GRCm39) |
missense |
probably benign |
|
|
R6530:Wdr93
|
UTSW |
7 |
79,405,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7056:Wdr93
|
UTSW |
7 |
79,399,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7079:Wdr93
|
UTSW |
7 |
79,399,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7309:Wdr93
|
UTSW |
7 |
79,423,103 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7397:Wdr93
|
UTSW |
7 |
79,416,172 (GRCm39) |
missense |
probably null |
0.01 |
|
R7426:Wdr93
|
UTSW |
7 |
79,427,055 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7455:Wdr93
|
UTSW |
7 |
79,425,267 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7618:Wdr93
|
UTSW |
7 |
79,435,474 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8360:Wdr93
|
UTSW |
7 |
79,398,974 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-11-20 |
Incidental Mutation