Incidental Mutation 'R5080:Wdr37'
| ID |
387092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr37
|
| Ensembl Gene |
ENSMUSG00000021147 |
| Gene Name |
WD repeat domain 37 |
| Synonyms |
4933417A01Rik, 3110035P10Rik |
| MMRRC Submission |
042669-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5080 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
8853004-8921945 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 8897710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135097
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021572]
[ENSMUST00000054251]
[ENSMUST00000164183]
[ENSMUST00000176098]
[ENSMUST00000176329]
[ENSMUST00000176587]
[ENSMUST00000176813]
[ENSMUST00000176813]
[ENSMUST00000176922]
[ENSMUST00000176715]
|
| AlphaFold |
Q8CBE3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021572
AA Change: L182*
|
| SMART Domains |
Protein: ENSMUSP00000021572
Gene: ENSMUSG00000021147
AA Change: L182*
| 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 null
Transcript: ENSMUST00000054251
AA Change: L182*
|
| SMART Domains |
Protein: ENSMUSP00000062174
Gene: ENSMUSG00000021147
AA Change: L182*
| 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: ENSMUST00000164183
|
| SMART Domains |
Protein: ENSMUSP00000131469
Gene: ENSMUSG00000021147
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
63 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176098
AA Change: L13*
|
| SMART Domains |
Protein: ENSMUSP00000135094
Gene: ENSMUSG00000021147
AA Change: L13*
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
19 |
58 |
4.27e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176329
AA Change: L137*
|
| SMART Domains |
Protein: ENSMUSP00000135101
Gene: ENSMUSG00000021147
AA Change: L137*
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
100 |
140 |
9.75e-3 |
SMART |
|
WD40
|
143 |
182 |
4.27e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176429
AA Change: L62*
|
| SMART Domains |
Protein: ENSMUSP00000134916
Gene: ENSMUSG00000021147
AA Change: L62*
| 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 null
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 null
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: ENSMUST00000176922
|
| SMART Domains |
Protein: ENSMUSP00000135742
Gene: ENSMUSG00000021147
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
63 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221401
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176715
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.5%
|
| Validation Efficiency |
96% (54/56) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
G |
A |
14: 103,286,744 (GRCm39) |
G16S |
possibly damaging |
Het |
| Adcy4 |
A |
T |
14: 56,009,832 (GRCm39) |
M740K |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,112,012 (GRCm39) |
|
probably benign |
Het |
| Atrn |
T |
A |
2: 130,812,044 (GRCm39) |
I663N |
possibly damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,567,394 (GRCm39) |
|
probably null |
Het |
| Carf |
C |
A |
1: 60,189,772 (GRCm39) |
Q631K |
probably damaging |
Het |
| Ces1d |
T |
C |
8: 93,908,175 (GRCm39) |
D306G |
probably benign |
Het |
| Corin |
T |
A |
5: 72,511,194 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
T |
C |
18: 61,257,373 (GRCm39) |
F575L |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,247,690 (GRCm39) |
D181G |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,162,565 (GRCm39) |
M1I |
probably null |
Het |
| Dnah7b |
C |
T |
1: 46,221,540 (GRCm39) |
R1215* |
probably null |
Het |
| Dpp3 |
T |
A |
19: 4,965,108 (GRCm39) |
D464V |
probably benign |
Het |
| Drosha |
C |
A |
15: 12,842,229 (GRCm39) |
A344D |
probably benign |
Het |
| Fat3 |
G |
T |
9: 15,910,634 (GRCm39) |
S1789R |
probably benign |
Het |
| Fhip2a |
A |
T |
19: 57,361,713 (GRCm39) |
K134I |
probably damaging |
Het |
| Frg2f1 |
T |
C |
4: 119,388,230 (GRCm39) |
T90A |
possibly damaging |
Het |
| Frrs1 |
T |
C |
3: 116,696,585 (GRCm39) |
I544T |
probably benign |
Het |
| Gm20939 |
T |
C |
17: 95,184,419 (GRCm39) |
C356R |
probably damaging |
Het |
| Ifi206 |
T |
A |
1: 173,301,414 (GRCm39) |
I755F |
possibly damaging |
Het |
| Kntc1 |
T |
A |
5: 123,900,649 (GRCm39) |
V249E |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,848,993 (GRCm39) |
L230* |
probably null |
Het |
| Lce1e |
C |
T |
3: 92,615,137 (GRCm39) |
C70Y |
unknown |
Het |
| Ltbp2 |
T |
C |
12: 84,850,638 (GRCm39) |
N892S |
probably damaging |
Het |
| Mfsd4b5 |
T |
A |
10: 39,846,570 (GRCm39) |
M337L |
probably damaging |
Het |
| Noxo1 |
T |
A |
17: 24,918,331 (GRCm39) |
C164S |
probably damaging |
Het |
| Or2y1b |
G |
T |
11: 49,208,914 (GRCm39) |
M180I |
probably benign |
Het |
| Or5j3 |
G |
A |
2: 86,128,258 (GRCm39) |
V33M |
probably benign |
Het |
| Osbpl6 |
T |
C |
2: 76,354,429 (GRCm39) |
S15P |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,770,750 (GRCm39) |
Y1076C |
probably benign |
Het |
| Pik3c2a |
T |
A |
7: 115,947,509 (GRCm39) |
H1391L |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,316,742 (GRCm39) |
Y573C |
probably benign |
Het |
| Prpf3 |
T |
A |
3: 95,741,109 (GRCm39) |
H600L |
probably benign |
Het |
| Rilpl2 |
T |
C |
5: 124,607,876 (GRCm39) |
T115A |
probably benign |
Het |
| Rpl15-ps6 |
A |
G |
15: 52,341,446 (GRCm39) |
|
noncoding transcript |
Het |
| Serpini1 |
T |
C |
3: 75,523,967 (GRCm39) |
S192P |
probably damaging |
Het |
| Sp110 |
G |
T |
1: 85,523,776 (GRCm39) |
Y18* |
probably null |
Het |
| Stard6 |
A |
T |
18: 70,629,293 (GRCm39) |
I126F |
probably damaging |
Het |
| Strip2 |
T |
A |
6: 29,945,592 (GRCm39) |
L660H |
probably damaging |
Het |
| Tmed3 |
G |
A |
9: 89,581,825 (GRCm39) |
R213* |
probably null |
Het |
| Tns1 |
G |
T |
1: 73,992,099 (GRCm39) |
P860T |
probably damaging |
Het |
| Togaram1 |
T |
C |
12: 65,030,177 (GRCm39) |
S994P |
probably benign |
Het |
| Tomm34 |
G |
A |
2: 163,912,816 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
G |
A |
9: 111,218,289 (GRCm39) |
E1890K |
probably damaging |
Het |
| Wasf3 |
C |
T |
5: 146,397,907 (GRCm39) |
H225Y |
probably benign |
Het |
| Zbtb7c |
A |
C |
18: 76,270,413 (GRCm39) |
D167A |
probably benign |
Het |
| Zkscan4 |
A |
G |
13: 21,665,498 (GRCm39) |
T158A |
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 |
|
|
R3819:Wdr37
|
UTSW |
13 |
8,903,632 (GRCm39) |
intron |
probably benign |
|
|
R4721:Wdr37
|
UTSW |
13 |
8,904,065 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
PCR Primer
(F):5'- TGACTACCCTGTACCCTGAC -3'
(R):5'- CTTAGGTCGGGTGAATTGTACAAAG -3'
Sequencing Primer
(F):5'- CTGTACCCTGACTTACATCAAATG -3'
(R):5'- CTCAGTGGTTAGGAACACTGGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation