Incidental Mutation 'R3818:Wdr37'
ID |
473916 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr37
|
Ensembl Gene |
ENSMUSG00000021147 |
Gene Name |
WD repeat domain 37 |
Synonyms |
4933417A01Rik, 3110035P10Rik |
MMRRC Submission |
040772-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3818 (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]
[ENSMUST00000176922]
[ENSMUST00000176813]
[ENSMUST00000176329]
[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 |
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: 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 |
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: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.4%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310011J03Rik |
T |
C |
10: 80,155,351 (GRCm39) |
D54G |
probably damaging |
Het |
Adra2b |
G |
T |
2: 127,205,755 (GRCm39) |
E86* |
probably null |
Het |
Cachd1 |
A |
T |
4: 100,848,062 (GRCm39) |
D1059V |
probably damaging |
Het |
Cd177 |
A |
G |
7: 24,453,817 (GRCm39) |
V358A |
probably benign |
Het |
Col25a1 |
A |
G |
3: 130,343,720 (GRCm39) |
K396R |
possibly damaging |
Het |
Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
Cyp4a30b |
G |
T |
4: 115,316,206 (GRCm39) |
A311S |
probably damaging |
Het |
Dse |
T |
C |
10: 34,029,429 (GRCm39) |
I554V |
probably benign |
Het |
Gabrg3 |
G |
A |
7: 57,031,412 (GRCm39) |
Q43* |
probably null |
Het |
Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
Gpr21 |
C |
A |
2: 37,408,324 (GRCm39) |
T290N |
probably damaging |
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 |
Mamdc4 |
C |
T |
2: 25,455,785 (GRCm39) |
S840N |
probably benign |
Het |
Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
Or8i2 |
G |
A |
2: 86,852,054 (GRCm39) |
T278I |
probably benign |
Het |
Pah |
A |
G |
10: 87,357,866 (GRCm39) |
|
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,284,917 (GRCm39) |
S794T |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,309,990 (GRCm39) |
H108R |
probably damaging |
Het |
Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
Prkd1 |
A |
T |
12: 50,466,667 (GRCm39) |
|
probably benign |
Het |
Pwp1 |
C |
T |
10: 85,723,993 (GRCm39) |
P498L |
possibly damaging |
Het |
Rasa4 |
A |
G |
5: 136,131,147 (GRCm39) |
T414A |
possibly damaging |
Het |
Rbm26 |
A |
T |
14: 105,378,706 (GRCm39) |
L594I |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
Sorcs3 |
A |
G |
19: 48,592,343 (GRCm39) |
N336S |
probably benign |
Het |
Sspo |
A |
T |
6: 48,458,037 (GRCm39) |
E3269V |
possibly damaging |
Het |
Tlr4 |
A |
G |
4: 66,759,553 (GRCm39) |
E782G |
probably benign |
Het |
Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ttl |
T |
C |
2: 128,934,914 (GRCm39) |
V358A |
probably damaging |
Het |
Wdhd1 |
A |
G |
14: 47,481,258 (GRCm39) |
|
probably null |
Het |
Zfp939 |
T |
C |
7: 39,122,792 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |