Incidental Mutation 'R3819:Wdr37'
ID |
473919 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr37
|
Ensembl Gene |
ENSMUSG00000021147 |
Gene Name |
WD repeat domain 37 |
Synonyms |
4933417A01Rik, 3110035P10Rik |
MMRRC Submission |
040773-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3819 (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: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
100% (38/38) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
C |
6: 86,936,024 (GRCm39) |
|
probably benign |
Het |
Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
Barx1 |
T |
C |
13: 48,818,960 (GRCm39) |
I200T |
possibly damaging |
Het |
Coil |
T |
C |
11: 88,872,619 (GRCm39) |
F380L |
probably benign |
Het |
Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
Dab2ip |
T |
C |
2: 35,603,222 (GRCm39) |
C417R |
probably damaging |
Het |
Dhx57 |
A |
G |
17: 80,572,503 (GRCm39) |
|
probably null |
Het |
Gabrg3 |
G |
A |
7: 57,031,412 (GRCm39) |
Q43* |
probably null |
Het |
Gbp7 |
C |
A |
3: 142,249,826 (GRCm39) |
H432Q |
possibly damaging |
Het |
Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
Gsdme |
A |
C |
6: 50,196,391 (GRCm39) |
S340A |
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Krt34 |
T |
C |
11: 99,930,844 (GRCm39) |
E186G |
probably damaging |
Het |
Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
Msantd4 |
A |
G |
9: 4,385,237 (GRCm39) |
K321E |
probably damaging |
Het |
Or5ac22 |
A |
G |
16: 59,135,434 (GRCm39) |
F112S |
probably damaging |
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 |
Paxbp1 |
A |
C |
16: 90,819,640 (GRCm39) |
|
probably benign |
Het |
Plcl1 |
T |
A |
1: 55,735,758 (GRCm39) |
D366E |
probably benign |
Het |
Pramel22 |
T |
A |
4: 143,382,365 (GRCm39) |
E110D |
probably benign |
Het |
Prdm5 |
T |
C |
6: 65,913,041 (GRCm39) |
F391L |
possibly damaging |
Het |
Rasef |
C |
G |
4: 73,677,942 (GRCm39) |
D95H |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Skint3 |
A |
T |
4: 112,113,085 (GRCm39) |
I232F |
possibly damaging |
Het |
Slc43a3 |
T |
C |
2: 84,774,896 (GRCm39) |
I158T |
probably damaging |
Het |
Smad1 |
G |
A |
8: 80,070,359 (GRCm39) |
A393V |
probably benign |
Het |
Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
Sspo |
A |
T |
6: 48,458,037 (GRCm39) |
E3269V |
possibly damaging |
Het |
Stat3 |
C |
T |
11: 100,789,459 (GRCm39) |
S377N |
probably damaging |
Het |
Tbpl2 |
A |
G |
2: 23,966,024 (GRCm39) |
V321A |
probably damaging |
Het |
Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,729,047 (GRCm39) |
|
probably benign |
Het |
Xdh |
A |
T |
17: 74,213,720 (GRCm39) |
I811K |
probably benign |
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 |
|
R3817:Wdr37
|
UTSW |
13 |
8,903,632 (GRCm39) |
intron |
probably benign |
|
R3818: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 |