Incidental Mutation 'IGL02479:Wdr37'
| ID |
295098 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr37
|
| Ensembl Gene |
ENSMUSG00000021147 |
| Gene Name |
WD repeat domain 37 |
| Synonyms |
4933417A01Rik, 3110035P10Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02479
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
8853004-8921945 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 8892820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 224
(H224Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062174
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021572]
[ENSMUST00000054251]
[ENSMUST00000176098]
[ENSMUST00000176329]
[ENSMUST00000176813]
|
| AlphaFold |
Q8CBE3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021572
AA Change: H224Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021572
Gene: ENSMUSG00000021147
AA Change: H224Q
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
63 |
101 |
N/A |
INTRINSIC |
|
WD40
|
145 |
185 |
9.75e-3 |
SMART |
|
WD40
|
188 |
227 |
4.27e-8 |
SMART |
|
WD40
|
272 |
311 |
1.06e-3 |
SMART |
|
WD40
|
314 |
353 |
4.91e-8 |
SMART |
|
WD40
|
358 |
396 |
2.38e-6 |
SMART |
|
Blast:WD40
|
400 |
438 |
8e-17 |
BLAST |
|
WD40
|
445 |
486 |
6.19e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054251
AA Change: H224Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062174
Gene: ENSMUSG00000021147
AA Change: H224Q
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
63 |
101 |
N/A |
INTRINSIC |
|
WD40
|
145 |
185 |
9.75e-3 |
SMART |
|
WD40
|
188 |
227 |
4.27e-8 |
SMART |
|
WD40
|
272 |
311 |
1.06e-3 |
SMART |
|
WD40
|
314 |
353 |
4.91e-8 |
SMART |
|
WD40
|
358 |
396 |
2.38e-6 |
SMART |
|
Blast:WD40
|
400 |
438 |
8e-17 |
BLAST |
|
WD40
|
445 |
486 |
6.19e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176098
AA Change: H55Q
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135094
Gene: ENSMUSG00000021147
AA Change: H55Q
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
19 |
58 |
4.27e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176329
AA Change: H179Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135101
Gene: ENSMUSG00000021147
AA Change: H179Q
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
100 |
140 |
9.75e-3 |
SMART |
|
WD40
|
143 |
182 |
4.27e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176429
|
| SMART Domains |
Protein: ENSMUSP00000134916
Gene: ENSMUSG00000021147
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
26 |
66 |
9.75e-3 |
SMART |
|
WD40
|
69 |
113 |
3.81e-5 |
SMART |
|
WD40
|
118 |
156 |
2.38e-6 |
SMART |
|
Blast:WD40
|
160 |
193 |
2e-14 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176813
|
| SMART Domains |
Protein: ENSMUSP00000135097
Gene: ENSMUSG00000021147
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
63 |
101 |
N/A |
INTRINSIC |
|
SCOP:d1ijqa1
|
128 |
180 |
3e-4 |
SMART |
|
Blast:WD40
|
145 |
180 |
5e-19 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000177537
AA Change: H30Q
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221401
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
T |
C |
5: 121,639,461 (GRCm39) |
Y528C |
probably damaging |
Het |
| Adam24 |
T |
A |
8: 41,132,571 (GRCm39) |
I13N |
probably benign |
Het |
| Arsj |
T |
C |
3: 126,232,588 (GRCm39) |
S445P |
possibly damaging |
Het |
| Btf3l4 |
G |
A |
4: 108,683,373 (GRCm39) |
T31I |
possibly damaging |
Het |
| Cask |
A |
T |
X: 13,423,297 (GRCm39) |
D502E |
probably damaging |
Het |
| Cenpl |
T |
A |
1: 160,910,637 (GRCm39) |
S195T |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,528,107 (GRCm39) |
I545N |
probably damaging |
Het |
| Clrn2 |
T |
C |
5: 45,621,254 (GRCm39) |
I216T |
probably benign |
Het |
| Csf2rb |
C |
T |
15: 78,225,924 (GRCm39) |
Q332* |
probably null |
Het |
| Cyp3a44 |
T |
C |
5: 145,727,477 (GRCm39) |
D284G |
probably benign |
Het |
| Dgka |
T |
C |
10: 128,566,115 (GRCm39) |
E345G |
probably benign |
Het |
| Dync1i2 |
G |
A |
2: 71,066,323 (GRCm39) |
V128I |
probably damaging |
Het |
| Eno3 |
T |
A |
11: 70,551,714 (GRCm39) |
|
probably benign |
Het |
| Epc2 |
T |
A |
2: 49,422,147 (GRCm39) |
I347K |
probably benign |
Het |
| F8 |
A |
T |
X: 74,331,846 (GRCm39) |
N681K |
probably damaging |
Het |
| Fancm |
T |
A |
12: 65,153,259 (GRCm39) |
D1238E |
probably damaging |
Het |
| Fcna |
T |
A |
2: 25,515,272 (GRCm39) |
Q237L |
probably benign |
Het |
| Fpr2 |
A |
T |
17: 18,113,074 (GRCm39) |
R23S |
probably benign |
Het |
| Frmd3 |
A |
G |
4: 74,105,752 (GRCm39) |
D466G |
probably benign |
Het |
| Gen1 |
C |
A |
12: 11,291,936 (GRCm39) |
V618L |
probably benign |
Het |
| Gja4 |
T |
C |
4: 127,206,217 (GRCm39) |
E182G |
probably benign |
Het |
| Gsdmc |
T |
A |
15: 63,649,824 (GRCm39) |
I356F |
possibly damaging |
Het |
| Kctd19 |
T |
C |
8: 106,111,400 (GRCm39) |
D102G |
probably damaging |
Het |
| Lrit2 |
T |
C |
14: 36,794,235 (GRCm39) |
L433P |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,295,145 (GRCm39) |
|
probably benign |
Het |
| Luc7l3 |
G |
A |
11: 94,187,735 (GRCm39) |
|
probably benign |
Het |
| Map3k5 |
T |
A |
10: 19,932,230 (GRCm39) |
L458Q |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,878,545 (GRCm39) |
S1038P |
probably damaging |
Het |
| Med12 |
A |
T |
X: 100,340,598 (GRCm39) |
|
probably benign |
Het |
| Mtor |
T |
A |
4: 148,555,041 (GRCm39) |
L888M |
probably damaging |
Het |
| Nova1 |
A |
T |
12: 46,863,701 (GRCm39) |
I83N |
unknown |
Het |
| Obscn |
A |
G |
11: 58,947,053 (GRCm39) |
|
probably benign |
Het |
| Or11q2 |
T |
C |
X: 48,772,742 (GRCm39) |
V121A |
probably benign |
Het |
| Or4d10c |
T |
A |
19: 12,065,269 (GRCm39) |
M296L |
probably benign |
Het |
| Or4f15 |
A |
C |
2: 111,813,730 (GRCm39) |
S230A |
probably benign |
Het |
| Or6k2 |
C |
A |
1: 173,986,520 (GRCm39) |
Y60* |
probably null |
Het |
| Pde2a |
A |
G |
7: 101,150,290 (GRCm39) |
Y243C |
probably damaging |
Het |
| Pdzd8 |
T |
A |
19: 59,288,215 (GRCm39) |
K1062* |
probably null |
Het |
| Phc1 |
A |
T |
6: 122,300,676 (GRCm39) |
|
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,863,730 (GRCm39) |
S764T |
probably benign |
Het |
| Pmp2 |
T |
G |
3: 10,247,262 (GRCm39) |
R89S |
probably benign |
Het |
| Prdm2 |
A |
G |
4: 142,861,499 (GRCm39) |
L597P |
probably damaging |
Het |
| Rfx6 |
T |
A |
10: 51,554,424 (GRCm39) |
D88E |
probably benign |
Het |
| Rgs9 |
T |
C |
11: 109,116,478 (GRCm39) |
S442G |
possibly damaging |
Het |
| Ror2 |
C |
T |
13: 53,285,968 (GRCm39) |
R82Q |
possibly damaging |
Het |
| Sez6 |
C |
A |
11: 77,868,852 (GRCm39) |
A986E |
possibly damaging |
Het |
| Slc5a5 |
T |
A |
8: 71,341,555 (GRCm39) |
M325L |
possibly damaging |
Het |
| Slx9 |
T |
C |
10: 77,350,161 (GRCm39) |
S76G |
probably damaging |
Het |
| Sppl2c |
G |
A |
11: 104,077,763 (GRCm39) |
V188I |
probably benign |
Het |
| Srrm3 |
G |
T |
5: 135,864,103 (GRCm39) |
C67F |
probably damaging |
Het |
| Stk31 |
A |
G |
6: 49,398,622 (GRCm39) |
E341G |
probably damaging |
Het |
| Svil |
A |
T |
18: 5,099,476 (GRCm39) |
M1267L |
probably damaging |
Het |
| Tas2r135 |
C |
T |
6: 42,382,685 (GRCm39) |
R75* |
probably null |
Het |
| Trav8d-1 |
T |
C |
14: 53,016,257 (GRCm39) |
S48P |
probably benign |
Het |
| Vrk1 |
A |
T |
12: 106,017,261 (GRCm39) |
Q95L |
probably benign |
Het |
| Wdr25 |
C |
A |
12: 108,864,527 (GRCm39) |
T224K |
probably benign |
Het |
| Zhx1 |
C |
T |
15: 57,917,767 (GRCm39) |
E160K |
probably damaging |
Het |
|
| Other mutations in Wdr37 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Wdr37
|
APN |
13 |
8,870,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00753:Wdr37
|
APN |
13 |
8,911,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
profound
|
UTSW |
13 |
8,892,764 (GRCm39) |
critical splice donor site |
probably null |
|
|
radical
|
UTSW |
13 |
8,897,710 (GRCm39) |
splice site |
probably null |
|
|
R0885:Wdr37
|
UTSW |
13 |
8,885,288 (GRCm39) |
splice site |
probably null |
|
|
R1073:Wdr37
|
UTSW |
13 |
8,855,876 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1085:Wdr37
|
UTSW |
13 |
8,855,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1537:Wdr37
|
UTSW |
13 |
8,887,039 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1538:Wdr37
|
UTSW |
13 |
8,886,828 (GRCm39) |
missense |
probably benign |
|
|
R1541:Wdr37
|
UTSW |
13 |
8,870,574 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1868:Wdr37
|
UTSW |
13 |
8,886,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2240:Wdr37
|
UTSW |
13 |
8,911,268 (GRCm39) |
start gained |
probably benign |
|
|
R3815:Wdr37
|
UTSW |
13 |
8,903,632 (GRCm39) |
intron |
probably benign |
|
|
R3817:Wdr37
|
UTSW |
13 |
8,903,632 (GRCm39) |
intron |
probably benign |
|
|
R3818:Wdr37
|
UTSW |
13 |
8,903,632 (GRCm39) |
intron |
probably benign |
|
|
R3819:Wdr37
|
UTSW |
13 |
8,903,632 (GRCm39) |
intron |
probably benign |
|
|
R4721:Wdr37
|
UTSW |
13 |
8,904,065 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5080:Wdr37
|
UTSW |
13 |
8,897,710 (GRCm39) |
splice site |
probably null |
|
|
R6297:Wdr37
|
UTSW |
13 |
8,892,764 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6761:Wdr37
|
UTSW |
13 |
8,899,684 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7505:Wdr37
|
UTSW |
13 |
8,869,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7840:Wdr37
|
UTSW |
13 |
8,886,911 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7873:Wdr37
|
UTSW |
13 |
8,855,969 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8081:Wdr37
|
UTSW |
13 |
8,885,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8311:Wdr37
|
UTSW |
13 |
8,903,609 (GRCm39) |
missense |
unknown |
|
|
R9030:Wdr37
|
UTSW |
13 |
8,885,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9452:Wdr37
|
UTSW |
13 |
8,897,663 (GRCm39) |
missense |
|
|
|
R9736:Wdr37
|
UTSW |
13 |
8,911,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation