Incidental Mutation 'R3817:Wdr37'
| ID |
473912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr37
|
| Ensembl Gene |
ENSMUSG00000021147 |
| Gene Name |
WD repeat domain 37 |
| Synonyms |
4933417A01Rik, 3110035P10Rik |
| MMRRC Submission |
040771-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3817 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
8853004-8921945 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 8903632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135097
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021572]
[ENSMUST00000054251]
[ENSMUST00000164183]
[ENSMUST00000175958]
[ENSMUST00000176098]
[ENSMUST00000176329]
[ENSMUST00000176922]
[ENSMUST00000176813]
[ENSMUST00000176587]
[ENSMUST00000176715]
|
| AlphaFold |
Q8CBE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021572
|
| SMART Domains |
Protein: ENSMUSP00000021572
Gene: ENSMUSG00000021147
| 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 benign
Transcript: ENSMUST00000054251
|
| SMART Domains |
Protein: ENSMUSP00000062174
Gene: ENSMUSG00000021147
| 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 |
unknown
Transcript: ENSMUST00000164183
AA Change: I157T
|
| SMART Domains |
Protein: ENSMUSP00000131469
Gene: ENSMUSG00000021147
AA Change: I157T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
63 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175687
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175958
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176098
|
| SMART Domains |
Protein: ENSMUSP00000135094
Gene: ENSMUSG00000021147
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
19 |
58 |
4.27e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176329
|
| SMART Domains |
Protein: ENSMUSP00000135101
Gene: ENSMUSG00000021147
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
100 |
140 |
9.75e-3 |
SMART |
|
WD40
|
143 |
182 |
4.27e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177112
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176922
AA Change: I157T
|
| SMART Domains |
Protein: ENSMUSP00000135742
Gene: ENSMUSG00000021147
AA Change: I157T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
63 |
101 |
N/A |
INTRINSIC |
|
| 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 |
probably benign
Transcript: ENSMUST00000176587
|
| SMART Domains |
Protein: ENSMUSP00000135271
Gene: ENSMUSG00000021147
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
62 |
100 |
N/A |
INTRINSIC |
|
| 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: ENSMUST00000176715
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (34/34) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appbp2 |
G |
T |
11: 85,088,934 (GRCm39) |
P369T |
probably damaging |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| B3galt2 |
G |
T |
1: 143,522,811 (GRCm39) |
G316C |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,710,893 (GRCm39) |
|
probably benign |
Het |
| Clec4a4 |
A |
C |
6: 122,967,366 (GRCm39) |
N14T |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,175,835 (GRCm39) |
Q716L |
probably benign |
Het |
| Cts7 |
T |
C |
13: 61,504,350 (GRCm39) |
N71S |
probably damaging |
Het |
| Cyb561a3 |
T |
C |
19: 10,559,728 (GRCm39) |
S18P |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,627,127 (GRCm39) |
F234L |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
| Exph5 |
C |
T |
9: 53,286,794 (GRCm39) |
Q1292* |
probably null |
Het |
| Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
| Lig3 |
G |
A |
11: 82,686,941 (GRCm39) |
V695M |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,766,670 (GRCm39) |
E2735G |
probably damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,044 (GRCm39) |
E152G |
probably benign |
Het |
| Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
| Nav2 |
A |
G |
7: 49,114,310 (GRCm39) |
T765A |
probably benign |
Het |
| Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
| Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
| Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
| Or8g52 |
A |
G |
9: 39,631,404 (GRCm39) |
N294D |
possibly damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
| Ppp2r5c |
T |
C |
12: 110,510,621 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
| Slc27a1 |
T |
C |
8: 72,037,122 (GRCm39) |
V422A |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Tns3 |
G |
C |
11: 8,384,619 (GRCm39) |
R1400G |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,286,601 (GRCm39) |
Y78F |
probably damaging |
Het |
| Zfp672 |
G |
T |
11: 58,207,462 (GRCm39) |
H286Q |
possibly 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 |
|
IGL02479:Wdr37
|
APN |
13 |
8,892,820 (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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2017-04-14 |
Incidental Mutation