Incidental Mutation 'R8311:Wdr37'
ID |
641396 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr37
|
Ensembl Gene |
ENSMUSG00000021147 |
Gene Name |
WD repeat domain 37 |
Synonyms |
4933417A01Rik, 3110035P10Rik |
MMRRC Submission |
067796-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8311 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
8853004-8921945 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8903609 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 165
(R165G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135742
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021572]
[ENSMUST00000054251]
[ENSMUST00000164183]
[ENSMUST00000175958]
[ENSMUST00000176098]
[ENSMUST00000176329]
[ENSMUST00000176922]
[ENSMUST00000176587]
[ENSMUST00000176715]
[ENSMUST00000176813]
|
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: R165G
|
SMART Domains |
Protein: ENSMUSP00000131469 Gene: ENSMUSG00000021147 AA Change: R165G
Domain | Start | End | E-Value | Type |
coiled coil region
|
63 |
101 |
N/A |
INTRINSIC |
|
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 |
unknown
Transcript: ENSMUST00000176922
AA Change: R165G
|
SMART Domains |
Protein: ENSMUSP00000135742 Gene: ENSMUSG00000021147 AA Change: R165G
Domain | Start | End | E-Value | Type |
coiled coil region
|
63 |
101 |
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: 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: ENSMUST00000176715
|
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (53/53) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
G |
12: 71,184,815 (GRCm39) |
|
probably benign |
Het |
4930407I10Rik |
T |
C |
15: 81,947,440 (GRCm39) |
W446R |
possibly damaging |
Het |
Aldh1l2 |
T |
A |
10: 83,326,479 (GRCm39) |
E912D |
probably damaging |
Het |
Apol9a |
T |
C |
15: 77,289,220 (GRCm39) |
D49G |
possibly damaging |
Het |
Bnc2 |
A |
T |
4: 84,194,582 (GRCm39) |
D847E |
possibly damaging |
Het |
Ccdc91 |
A |
G |
6: 147,437,114 (GRCm39) |
N100S |
possibly damaging |
Het |
Copb2 |
G |
T |
9: 98,450,072 (GRCm39) |
K10N |
possibly damaging |
Het |
Cyp4a14 |
A |
G |
4: 115,348,275 (GRCm39) |
S401P |
probably damaging |
Het |
Cyp4f15 |
A |
T |
17: 32,916,914 (GRCm39) |
Q277L |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,354,217 (GRCm39) |
S410T |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,880,644 (GRCm39) |
N2651S |
probably benign |
Het |
Efhb |
A |
G |
17: 53,720,489 (GRCm39) |
|
probably null |
Het |
Eif4ebp1 |
T |
A |
8: 27,765,124 (GRCm39) |
F113L |
probably damaging |
Het |
Emilin2 |
C |
G |
17: 71,562,141 (GRCm39) |
D954H |
probably damaging |
Het |
Eng |
A |
G |
2: 32,569,005 (GRCm39) |
T511A |
probably benign |
Het |
Eps8l1 |
A |
G |
7: 4,474,817 (GRCm39) |
D266G |
probably damaging |
Het |
Fam120a |
T |
C |
13: 49,087,433 (GRCm39) |
H309R |
possibly damaging |
Het |
Gga3 |
A |
T |
11: 115,477,834 (GRCm39) |
S585T |
probably benign |
Het |
Gm12117 |
T |
C |
11: 33,226,126 (GRCm39) |
Q70R |
probably damaging |
Het |
Gpr158 |
A |
G |
2: 21,373,701 (GRCm39) |
H212R |
probably benign |
Het |
Hmgb1 |
A |
G |
5: 148,987,427 (GRCm39) |
F41L |
possibly damaging |
Het |
Iqcm |
T |
A |
8: 76,480,118 (GRCm39) |
|
probably benign |
Het |
Itgav |
T |
A |
2: 83,596,121 (GRCm39) |
I214N |
probably damaging |
Het |
Kcna1 |
T |
A |
6: 126,619,255 (GRCm39) |
H355L |
probably benign |
Het |
Lrrc37a |
C |
T |
11: 103,394,247 (GRCm39) |
V393I |
probably benign |
Het |
Mak16 |
T |
C |
8: 31,658,697 (GRCm39) |
D4G |
probably damaging |
Het |
Metap2 |
C |
T |
10: 93,697,384 (GRCm39) |
R432H |
possibly damaging |
Het |
Nlrc4 |
G |
A |
17: 74,753,540 (GRCm39) |
T281M |
probably damaging |
Het |
Ntrk1 |
T |
A |
3: 87,688,870 (GRCm39) |
Q561L |
probably damaging |
Het |
Or10ak7 |
A |
C |
4: 118,791,347 (GRCm39) |
S231A |
probably damaging |
Het |
Or10w3 |
A |
G |
19: 13,704,035 (GRCm39) |
T137A |
possibly damaging |
Het |
Pira1 |
T |
C |
7: 3,739,482 (GRCm39) |
D462G |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,628,282 (GRCm39) |
I1304V |
probably null |
Het |
Ppp4r2 |
T |
C |
6: 100,843,343 (GRCm39) |
S354P |
probably benign |
Het |
Ptchd3 |
A |
G |
11: 121,727,299 (GRCm39) |
H391R |
possibly damaging |
Het |
Rchy1 |
T |
C |
5: 92,099,762 (GRCm39) |
D192G |
probably damaging |
Het |
Rmdn1 |
T |
C |
4: 19,575,329 (GRCm39) |
|
probably null |
Het |
Rp1 |
T |
A |
1: 4,418,572 (GRCm39) |
I847L |
probably benign |
Het |
Rtn1 |
T |
C |
12: 72,350,838 (GRCm39) |
E457G |
probably damaging |
Het |
Serpind1 |
G |
A |
16: 17,160,730 (GRCm39) |
S420N |
possibly damaging |
Het |
Sirpa |
T |
C |
2: 129,458,143 (GRCm39) |
V253A |
probably damaging |
Het |
Snapc4 |
A |
T |
2: 26,268,546 (GRCm39) |
F38L |
probably benign |
Het |
Spata31g1 |
T |
C |
4: 42,973,169 (GRCm39) |
V834A |
probably benign |
Het |
Srcap |
T |
C |
7: 127,156,969 (GRCm39) |
F2321S |
probably damaging |
Het |
Stat4 |
A |
T |
1: 52,142,075 (GRCm39) |
I641F |
probably damaging |
Het |
Tmem216 |
A |
T |
19: 10,529,191 (GRCm39) |
F65Y |
probably benign |
Het |
Tmem37 |
C |
T |
1: 119,995,982 (GRCm39) |
V32M |
possibly damaging |
Het |
Tmprss11c |
T |
G |
5: 86,383,412 (GRCm39) |
Q338P |
probably damaging |
Het |
Tonsl |
C |
T |
15: 76,517,463 (GRCm39) |
S752N |
probably benign |
Het |
Vmn1r26 |
T |
C |
6: 57,985,518 (GRCm39) |
K224E |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,887,100 (GRCm39) |
V3229D |
probably benign |
Het |
Vwa5b2 |
C |
T |
16: 20,409,972 (GRCm39) |
R21W |
probably damaging |
Het |
Yars2 |
T |
C |
16: 16,125,147 (GRCm39) |
F388L |
probably benign |
Het |
Ykt6 |
T |
A |
11: 5,912,366 (GRCm39) |
D106E |
probably benign |
Het |
Zc3h12a |
A |
C |
4: 125,020,788 (GRCm39) |
S18R |
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 |
|
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 |
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 |
PCR Primer
(F):5'- GCCAGATAGAACTTTGAGCCC -3'
(R):5'- TCTTCCACAGCCAGTCACAG -3'
Sequencing Primer
(F):5'- GAACTTTGAGCCCACATATTTAGCC -3'
(R):5'- GTACCAGTCAGCTTTCTCAGAAG -3'
|
Posted On |
2020-07-28 |