Incidental Mutation 'IGL02627:Wdr82'
| ID |
301137 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr82
|
| Ensembl Gene |
ENSMUSG00000020257 |
| Gene Name |
WD repeat domain containing 82 |
| Synonyms |
9430077D24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
IGL02627
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
106048127-106068338 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106053886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 79
(V79A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020490]
[ENSMUST00000190564]
[ENSMUST00000214444]
[ENSMUST00000216761]
|
| AlphaFold |
Q8BFQ4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020490
AA Change: V79A
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000020490
Gene: ENSMUSG00000020257
AA Change: V79A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
10 |
49 |
9.52e-6 |
SMART |
|
WD40
|
96 |
135 |
3.47e-8 |
SMART |
|
WD40
|
138 |
175 |
4.11e1 |
SMART |
|
WD40
|
180 |
222 |
2.75e1 |
SMART |
|
WD40
|
225 |
267 |
2.49e-1 |
SMART |
|
WD40
|
270 |
308 |
1.33e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190564
AA Change: V4A
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191147
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214444
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216761
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217532
AA Change: V26A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TMEM113 (WDR82) is a component of the mammalian SET1A (MIM 611052)/SET1B (MIM 611055) histone H3-Lys4 methyltransferase complexes (Lee and Skalnik, 2005 [PubMed 16253997]; Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
A |
2: 30,685,777 (GRCm39) |
K353M |
probably damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,157,302 (GRCm39) |
Y100H |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cfap418 |
G |
A |
4: 10,898,039 (GRCm39) |
C207Y |
probably damaging |
Het |
| Ckap5 |
A |
T |
2: 91,406,366 (GRCm39) |
N752I |
probably damaging |
Het |
| Dgkz |
T |
A |
2: 91,769,055 (GRCm39) |
|
probably benign |
Het |
| Egfr |
T |
A |
11: 16,819,346 (GRCm39) |
V292E |
probably damaging |
Het |
| Gnb3 |
T |
C |
6: 124,811,678 (GRCm39) |
T329A |
probably damaging |
Het |
| Igkv3-2 |
A |
T |
6: 70,675,810 (GRCm39) |
T40S |
probably damaging |
Het |
| Kcnq2 |
T |
C |
2: 180,724,120 (GRCm39) |
|
probably benign |
Het |
| Mbip |
T |
C |
12: 56,382,590 (GRCm39) |
Q292R |
probably benign |
Het |
| Mgat5b |
T |
C |
11: 116,874,442 (GRCm39) |
Y625H |
probably damaging |
Het |
| Ms4a4d |
A |
T |
19: 11,525,987 (GRCm39) |
E40D |
probably damaging |
Het |
| Naip1 |
T |
C |
13: 100,562,156 (GRCm39) |
E1003G |
possibly damaging |
Het |
| Ncf2 |
G |
A |
1: 152,686,759 (GRCm39) |
|
probably benign |
Het |
| Nfkbiz |
A |
G |
16: 55,636,714 (GRCm39) |
V529A |
probably damaging |
Het |
| Osr2 |
A |
G |
15: 35,300,600 (GRCm39) |
N52S |
possibly damaging |
Het |
| Prag1 |
A |
G |
8: 36,606,593 (GRCm39) |
D778G |
possibly damaging |
Het |
| Rsl1d1 |
G |
T |
16: 11,012,415 (GRCm39) |
A337E |
possibly damaging |
Het |
| Sall3 |
A |
T |
18: 81,015,576 (GRCm39) |
L784Q |
possibly damaging |
Het |
| Spen |
A |
G |
4: 141,200,326 (GRCm39) |
I2744T |
probably damaging |
Het |
| Tfip11 |
A |
C |
5: 112,477,679 (GRCm39) |
S145R |
possibly damaging |
Het |
| Tonsl |
T |
C |
15: 76,518,295 (GRCm39) |
D559G |
probably damaging |
Het |
| Trmt5 |
A |
T |
12: 73,328,229 (GRCm39) |
S325T |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,771,472 (GRCm39) |
V472D |
probably damaging |
Het |
| Vmn1r30 |
T |
A |
6: 58,412,746 (GRCm39) |
T29S |
probably benign |
Het |
| Vps29 |
T |
C |
5: 122,500,908 (GRCm39) |
S158P |
probably benign |
Het |
| Wfdc16 |
T |
A |
2: 164,480,383 (GRCm39) |
E37D |
possibly damaging |
Het |
|
| Other mutations in Wdr82 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Wdr82
|
APN |
9 |
106,061,449 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02135:Wdr82
|
APN |
9 |
106,048,443 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02604:Wdr82
|
APN |
9 |
106,060,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03181:Wdr82
|
APN |
9 |
106,063,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0844:Wdr82
|
UTSW |
9 |
106,065,780 (GRCm39) |
unclassified |
probably benign |
|
|
R5867:Wdr82
|
UTSW |
9 |
106,062,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5869:Wdr82
|
UTSW |
9 |
106,062,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7136:Wdr82
|
UTSW |
9 |
106,048,532 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7228:Wdr82
|
UTSW |
9 |
106,053,871 (GRCm39) |
missense |
probably benign |
|
|
R7481:Wdr82
|
UTSW |
9 |
106,053,865 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8826:Wdr82
|
UTSW |
9 |
106,061,975 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8964:Wdr82
|
UTSW |
9 |
106,053,861 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Z1088:Wdr82
|
UTSW |
9 |
106,061,999 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation