Incidental Mutation 'R5482:Wdr36'
| ID |
434413 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr36
|
| Ensembl Gene |
ENSMUSG00000038299 |
| Gene Name |
WD repeat domain 36 |
| Synonyms |
5730444A13Rik |
| MMRRC Submission |
043043-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5482 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
32970241-33000008 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32974957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 103
(H103L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053663]
[ENSMUST00000166214]
|
| AlphaFold |
Q3TAQ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053663
AA Change: H103L
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000052465
Gene: ENSMUSG00000038299
AA Change: H103L
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
98 |
135 |
3.21e-1 |
SMART |
|
Blast:WD40
|
140 |
180 |
3e-15 |
BLAST |
|
WD40
|
183 |
222 |
9.21e0 |
SMART |
|
WD40
|
226 |
265 |
1.43e0 |
SMART |
|
WD40
|
268 |
308 |
5.35e-1 |
SMART |
|
WD40
|
315 |
355 |
7.43e-1 |
SMART |
|
WD40
|
473 |
515 |
1.46e-1 |
SMART |
|
WD40
|
559 |
598 |
2.2e-10 |
SMART |
|
WD40
|
601 |
640 |
1.43e1 |
SMART |
|
Pfam:Utp21
|
673 |
895 |
9.7e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166214
AA Change: H103L
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000132189
Gene: ENSMUSG00000038299
AA Change: H103L
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
98 |
135 |
3.21e-1 |
SMART |
|
Blast:WD40
|
140 |
180 |
3e-15 |
BLAST |
|
WD40
|
183 |
222 |
9.21e0 |
SMART |
|
WD40
|
226 |
265 |
1.43e0 |
SMART |
|
WD40
|
268 |
308 |
5.35e-1 |
SMART |
|
WD40
|
315 |
355 |
7.43e-1 |
SMART |
|
WD40
|
473 |
515 |
1.46e-1 |
SMART |
|
WD40
|
559 |
598 |
2.2e-10 |
SMART |
|
WD40
|
601 |
640 |
1.43e1 |
SMART |
|
Pfam:Utp21
|
668 |
883 |
6.1e-72 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181632
|
| Meta Mutation Damage Score |
0.8589 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.4%
- 10x: 94.5%
- 20x: 87.6%
|
| Validation Efficiency |
99% (68/69) |
| 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. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to complete embryonic lethality before implantation. In culture, homozygous mutant embryos fail to reach the blastocyst stage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230109A22Rik |
T |
C |
15: 25,139,036 (GRCm39) |
|
noncoding transcript |
Het |
| Abca15 |
T |
C |
7: 119,968,370 (GRCm39) |
L801P |
probably damaging |
Het |
| Acap3 |
A |
G |
4: 155,984,613 (GRCm39) |
D212G |
probably benign |
Het |
| Acsl6 |
G |
A |
11: 54,217,964 (GRCm39) |
D166N |
probably damaging |
Het |
| Acy1 |
T |
C |
9: 106,311,838 (GRCm39) |
|
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,942,360 (GRCm39) |
N1368S |
probably damaging |
Het |
| Akap5 |
T |
C |
12: 76,375,600 (GRCm39) |
I344T |
probably benign |
Het |
| Aplp1 |
A |
G |
7: 30,139,600 (GRCm39) |
F399S |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,107,727 (GRCm39) |
S1302P |
possibly damaging |
Het |
| Bik |
T |
G |
15: 83,428,335 (GRCm39) |
V121G |
probably damaging |
Het |
| Birc6 |
A |
T |
17: 74,948,777 (GRCm39) |
M3069L |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,969,685 (GRCm39) |
T4237A |
probably damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,670,557 (GRCm39) |
N59D |
probably benign |
Het |
| Cabyr |
A |
G |
18: 12,884,496 (GRCm39) |
S328G |
possibly damaging |
Het |
| Cfap57 |
C |
T |
4: 118,426,838 (GRCm39) |
G1067R |
probably benign |
Het |
| Cryl1 |
A |
T |
14: 57,550,469 (GRCm39) |
F132I |
probably damaging |
Het |
| Dipk1a |
C |
G |
5: 108,057,529 (GRCm39) |
C343S |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,019,521 (GRCm39) |
E3865K |
probably damaging |
Het |
| Dock3 |
G |
A |
9: 106,855,937 (GRCm39) |
R741* |
probably null |
Het |
| Fsip2 |
C |
T |
2: 82,815,654 (GRCm39) |
L3796F |
possibly damaging |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Gm5535 |
C |
A |
2: 144,016,492 (GRCm39) |
|
noncoding transcript |
Het |
| Gmcl1 |
A |
T |
6: 86,695,055 (GRCm39) |
M202K |
probably damaging |
Het |
| Hecw2 |
T |
A |
1: 53,965,360 (GRCm39) |
M489L |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,980,418 (GRCm39) |
I254T |
probably benign |
Het |
| Lrrn3 |
A |
C |
12: 41,502,387 (GRCm39) |
C643W |
probably damaging |
Het |
| Lrrn3 |
G |
A |
12: 41,502,386 (GRCm39) |
L644F |
probably benign |
Het |
| Nr2f6 |
A |
T |
8: 71,827,182 (GRCm39) |
I373N |
probably damaging |
Het |
| Nt5dc3 |
A |
G |
10: 86,647,395 (GRCm39) |
Y130C |
probably damaging |
Het |
| Or5b12 |
T |
C |
19: 12,897,269 (GRCm39) |
T135A |
probably damaging |
Het |
| Or6c3 |
T |
C |
10: 129,308,947 (GRCm39) |
Y129H |
probably benign |
Het |
| Otogl |
T |
A |
10: 107,657,802 (GRCm39) |
I1043F |
probably damaging |
Het |
| Padi3 |
G |
A |
4: 140,523,154 (GRCm39) |
T302I |
probably damaging |
Het |
| Pcdhgb5 |
A |
G |
18: 37,864,585 (GRCm39) |
N127D |
probably damaging |
Het |
| Pign |
A |
G |
1: 105,474,435 (GRCm39) |
F876L |
probably benign |
Het |
| Pip5k1c |
A |
G |
10: 81,128,897 (GRCm39) |
E2G |
probably damaging |
Het |
| Ppp1r18 |
G |
A |
17: 36,184,771 (GRCm39) |
E141K |
probably damaging |
Het |
| Ralbp1 |
A |
C |
17: 66,168,563 (GRCm39) |
Y247* |
probably null |
Het |
| Ripply2 |
A |
G |
9: 86,897,620 (GRCm39) |
E8G |
possibly damaging |
Het |
| Rufy3 |
TAAGCA |
TA |
5: 88,785,191 (GRCm39) |
|
probably null |
Het |
| Skint2 |
T |
G |
4: 112,483,076 (GRCm39) |
C160W |
probably damaging |
Het |
| Sun2 |
C |
T |
15: 79,621,712 (GRCm39) |
R172Q |
probably benign |
Het |
| Syna |
A |
G |
5: 134,588,028 (GRCm39) |
L307P |
possibly damaging |
Het |
| Tlcd3b |
A |
G |
7: 126,426,660 (GRCm39) |
T78A |
possibly damaging |
Het |
| Trappc12 |
T |
C |
12: 28,741,324 (GRCm39) |
K795R |
probably damaging |
Het |
| Trmt9b |
A |
T |
8: 36,979,203 (GRCm39) |
M269L |
probably benign |
Het |
| Ttll11 |
A |
G |
2: 35,642,418 (GRCm39) |
S638P |
probably damaging |
Het |
| Usp2 |
G |
A |
9: 44,000,480 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,285 (GRCm39) |
E620V |
possibly damaging |
Het |
| Wnt5b |
T |
C |
6: 119,423,392 (GRCm39) |
T78A |
probably benign |
Het |
| Zc2hc1b |
C |
T |
10: 13,029,270 (GRCm39) |
R146Q |
probably damaging |
Het |
|
| Other mutations in Wdr36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00925:Wdr36
|
APN |
18 |
32,978,684 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01975:Wdr36
|
APN |
18 |
32,985,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02001:Wdr36
|
APN |
18 |
32,985,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02605:Wdr36
|
APN |
18 |
32,985,044 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02625:Wdr36
|
APN |
18 |
32,992,314 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02928:Wdr36
|
APN |
18 |
32,980,372 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0025:Wdr36
|
UTSW |
18 |
32,992,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0025:Wdr36
|
UTSW |
18 |
32,992,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Wdr36
|
UTSW |
18 |
32,997,802 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0062:Wdr36
|
UTSW |
18 |
32,997,802 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0331:Wdr36
|
UTSW |
18 |
32,985,968 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0626:Wdr36
|
UTSW |
18 |
32,983,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0835:Wdr36
|
UTSW |
18 |
32,982,135 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1484:Wdr36
|
UTSW |
18 |
32,976,938 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1498:Wdr36
|
UTSW |
18 |
32,986,021 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3522:Wdr36
|
UTSW |
18 |
32,994,538 (GRCm39) |
splice site |
probably null |
|
|
R4521:Wdr36
|
UTSW |
18 |
32,974,201 (GRCm39) |
splice site |
probably null |
|
|
R4902:Wdr36
|
UTSW |
18 |
32,992,314 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5574:Wdr36
|
UTSW |
18 |
32,999,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5627:Wdr36
|
UTSW |
18 |
32,994,691 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6076:Wdr36
|
UTSW |
18 |
32,979,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6186:Wdr36
|
UTSW |
18 |
32,985,954 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6228:Wdr36
|
UTSW |
18 |
32,975,059 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7027:Wdr36
|
UTSW |
18 |
32,974,958 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7112:Wdr36
|
UTSW |
18 |
32,972,504 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7635:Wdr36
|
UTSW |
18 |
32,983,578 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7642:Wdr36
|
UTSW |
18 |
32,987,624 (GRCm39) |
splice site |
probably null |
|
|
R7998:Wdr36
|
UTSW |
18 |
32,985,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8200:Wdr36
|
UTSW |
18 |
32,998,979 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8203:Wdr36
|
UTSW |
18 |
32,985,136 (GRCm39) |
nonsense |
probably null |
|
|
R8257:Wdr36
|
UTSW |
18 |
32,974,339 (GRCm39) |
intron |
probably benign |
|
|
R8334:Wdr36
|
UTSW |
18 |
32,992,346 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8845:Wdr36
|
UTSW |
18 |
32,994,098 (GRCm39) |
nonsense |
probably null |
|
|
R8894:Wdr36
|
UTSW |
18 |
32,970,340 (GRCm39) |
start gained |
probably benign |
|
|
R8901:Wdr36
|
UTSW |
18 |
32,980,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9044:Wdr36
|
UTSW |
18 |
32,970,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9181:Wdr36
|
UTSW |
18 |
32,981,382 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9565:Wdr36
|
UTSW |
18 |
32,994,168 (GRCm39) |
nonsense |
probably null |
|
|
R9800:Wdr36
|
UTSW |
18 |
32,985,700 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0063:Wdr36
|
UTSW |
18 |
32,997,775 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1088:Wdr36
|
UTSW |
18 |
32,999,065 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGCCTGGTTCCTTATTATG -3'
(R):5'- ACATGCTAGACAGTCTCAGTG -3'
Sequencing Primer
(F):5'- GTCATCATTTTAGTCTCAGGCAAGAG -3'
(R):5'- GTGTACATGTGAAAACTCTCGTAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation