Incidental Mutation 'R6297:Wdr37'
| ID |
508855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr37
|
| Ensembl Gene |
ENSMUSG00000021147 |
| Gene Name |
WD repeat domain 37 |
| Synonyms |
4933417A01Rik, 3110035P10Rik |
| MMRRC Submission |
044464-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6297 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
8853004-8921945 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 8892764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062174
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021572]
[ENSMUST00000054251]
[ENSMUST00000176098]
[ENSMUST00000176329]
[ENSMUST00000176813]
|
| AlphaFold |
Q8CBE3 |
| Predicted Effect |
probably null
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 null
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 |
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 |
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: 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: ENSMUST00000177537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221401
|
| Meta Mutation Damage Score |
0.9711 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (45/46) |
| 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 |
|---|
| Abca4 |
T |
C |
3: 121,926,179 (GRCm39) |
V1205A |
probably benign |
Het |
| Adgra3 |
G |
A |
5: 50,118,189 (GRCm39) |
P1120S |
probably benign |
Het |
| Ate1 |
A |
G |
7: 130,105,570 (GRCm39) |
V316A |
probably damaging |
Het |
| Bpifa1 |
A |
G |
2: 153,986,180 (GRCm39) |
I102V |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,557,655 (GRCm39) |
|
probably null |
Het |
| Ccdc47 |
T |
C |
11: 106,094,427 (GRCm39) |
Y324C |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,985,564 (GRCm39) |
K341E |
possibly damaging |
Het |
| Cenpb |
A |
G |
2: 131,020,289 (GRCm39) |
|
probably benign |
Het |
| Dgkd |
A |
G |
1: 87,853,866 (GRCm39) |
I570V |
possibly damaging |
Het |
| Dhx32 |
A |
T |
7: 133,344,529 (GRCm39) |
Y27N |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,852,144 (GRCm39) |
D1824G |
possibly damaging |
Het |
| Fbxo8 |
T |
A |
8: 57,022,323 (GRCm39) |
C112S |
probably damaging |
Het |
| Fndc3a |
T |
C |
14: 72,800,980 (GRCm39) |
D590G |
probably damaging |
Het |
| Gm19965 |
T |
A |
1: 116,750,410 (GRCm39) |
I697N |
possibly damaging |
Het |
| Greb1l |
G |
A |
18: 10,469,494 (GRCm39) |
D170N |
probably damaging |
Het |
| Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
| Igfn1 |
A |
T |
1: 135,892,399 (GRCm39) |
|
probably null |
Het |
| Ighg2b |
T |
C |
12: 113,270,512 (GRCm39) |
E206G |
unknown |
Het |
| Ints15 |
A |
T |
5: 143,293,787 (GRCm39) |
L230Q |
possibly damaging |
Het |
| Lman2 |
T |
C |
13: 55,496,244 (GRCm39) |
N267S |
probably damaging |
Het |
| Lrfn5 |
A |
T |
12: 61,890,348 (GRCm39) |
I546F |
probably benign |
Het |
| Lrrc4c |
T |
C |
2: 97,459,964 (GRCm39) |
S197P |
probably damaging |
Het |
| Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,553,027 (GRCm39) |
Y793H |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,730,054 (GRCm39) |
R2799* |
probably null |
Het |
| Mup13 |
T |
A |
4: 61,181,634 (GRCm39) |
I148F |
probably benign |
Het |
| Or2aj5 |
A |
C |
16: 19,424,680 (GRCm39) |
V246G |
possibly damaging |
Het |
| Or5m10 |
A |
G |
2: 85,717,159 (GRCm39) |
N5S |
probably benign |
Het |
| Or8g53 |
A |
T |
9: 39,683,522 (GRCm39) |
D191E |
possibly damaging |
Het |
| Pdgfra |
A |
G |
5: 75,334,135 (GRCm39) |
K403E |
possibly damaging |
Het |
| Pigz |
A |
T |
16: 31,763,755 (GRCm39) |
Y271F |
probably damaging |
Het |
| Plekhg4 |
T |
C |
8: 106,104,472 (GRCm39) |
L517P |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,642,132 (GRCm39) |
L232P |
probably damaging |
Het |
| Rpa3 |
C |
A |
6: 8,256,767 (GRCm39) |
G71* |
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGTCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,287,584 (GRCm39) |
T623A |
probably benign |
Het |
| Sltm |
A |
G |
9: 70,488,641 (GRCm39) |
D597G |
probably damaging |
Het |
| Stpg2 |
T |
C |
3: 139,407,432 (GRCm39) |
V528A |
possibly damaging |
Het |
| Supt6 |
C |
T |
11: 78,116,885 (GRCm39) |
R589Q |
possibly damaging |
Het |
| Tas1r2 |
T |
A |
4: 139,389,361 (GRCm39) |
M419K |
possibly damaging |
Het |
| Txndc16 |
T |
C |
14: 45,389,243 (GRCm39) |
T486A |
probably benign |
Het |
| Vamp9 |
A |
G |
5: 100,089,092 (GRCm39) |
Y119C |
probably damaging |
Het |
| Vmn1r185 |
A |
G |
7: 26,311,046 (GRCm39) |
V153A |
probably benign |
Het |
| Vmn2r48 |
T |
C |
7: 9,668,807 (GRCm39) |
N548D |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,895 (GRCm39) |
I378T |
possibly damaging |
Het |
| Xrn2 |
G |
A |
2: 146,868,490 (GRCm39) |
R181H |
probably damaging |
Het |
| Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
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 |
|
|
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'- GCACTCTGACAGACTTCCTC -3'
(R):5'- AAAAGTGTGACTGTTTGGCCAC -3'
Sequencing Primer
(F):5'- CCCATCTGTCTGCTAAGGTGG -3'
(R):5'- ACTGTTTGGCCACAGATGTAAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation