Incidental Mutation 'R8257:Wdr36'
| ID |
656475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr36
|
| Ensembl Gene |
ENSMUSG00000038299 |
| Gene Name |
WD repeat domain 36 |
| Synonyms |
5730444A13Rik |
| MMRRC Submission |
067683-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8257 (G1)
|
| Quality Score |
195.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
32970241-33000008 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 32974339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053663]
[ENSMUST00000166214]
|
| AlphaFold |
Q3TAQ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053663
|
| SMART Domains |
Protein: ENSMUSP00000052465
Gene: ENSMUSG00000038299
| 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
|
| SMART Domains |
Protein: ENSMUSP00000132189
Gene: ENSMUSG00000038299
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,950,153 (GRCm39) |
K1350R |
probably benign |
Het |
| 4933407L21Rik |
T |
A |
1: 85,859,060 (GRCm39) |
C70* |
probably null |
Het |
| Akr1c6 |
G |
A |
13: 4,488,525 (GRCm39) |
V97I |
probably benign |
Het |
| Alg9 |
A |
T |
9: 50,690,387 (GRCm39) |
I130F |
possibly damaging |
Het |
| Ankle2 |
G |
T |
5: 110,401,781 (GRCm39) |
|
probably null |
Het |
| Ankrd34a |
A |
T |
3: 96,505,045 (GRCm39) |
H83L |
possibly damaging |
Het |
| Aoc1l2 |
A |
G |
6: 48,909,431 (GRCm39) |
T559A |
probably benign |
Het |
| Ate1 |
T |
C |
7: 130,069,037 (GRCm39) |
Y367C |
probably damaging |
Het |
| Atg9b |
C |
T |
5: 24,591,303 (GRCm39) |
|
probably benign |
Het |
| Atp2c1 |
A |
G |
9: 105,308,756 (GRCm39) |
S626P |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,614,606 (GRCm39) |
N1069S |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,921,962 (GRCm39) |
D753G |
probably benign |
Het |
| Cdk11b |
A |
G |
4: 155,732,398 (GRCm39) |
E517G |
unknown |
Het |
| Chst5 |
A |
T |
8: 112,617,092 (GRCm39) |
V176E |
probably damaging |
Het |
| Ddx50 |
T |
C |
10: 62,452,299 (GRCm39) |
|
probably benign |
Het |
| Dspp |
A |
G |
5: 104,324,867 (GRCm39) |
D410G |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,602,908 (GRCm39) |
V2183E |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,580,995 (GRCm39) |
V577A |
probably benign |
Het |
| Entpd2 |
T |
A |
2: 25,288,133 (GRCm39) |
L119Q |
probably damaging |
Het |
| Foxa1 |
A |
T |
12: 57,589,932 (GRCm39) |
M96K |
probably benign |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| H2-Aa |
T |
C |
17: 34,502,211 (GRCm39) |
T237A |
probably damaging |
Het |
| Itih4 |
G |
A |
14: 30,609,825 (GRCm39) |
V52I |
possibly damaging |
Het |
| Kntc1 |
T |
C |
5: 123,896,586 (GRCm39) |
|
probably null |
Het |
| Lgi4 |
A |
T |
7: 30,766,766 (GRCm39) |
|
probably null |
Het |
| Map4k2 |
G |
A |
19: 6,396,030 (GRCm39) |
R455H |
probably benign |
Het |
| Masp2 |
A |
G |
4: 148,687,497 (GRCm39) |
T95A |
possibly damaging |
Het |
| Mtmr12 |
T |
C |
15: 12,259,684 (GRCm39) |
I351T |
possibly damaging |
Het |
| Ncdn |
A |
G |
4: 126,643,676 (GRCm39) |
|
probably null |
Het |
| Nckipsd |
A |
G |
9: 108,692,127 (GRCm39) |
E516G |
probably benign |
Het |
| Nlrp12 |
A |
G |
7: 3,297,962 (GRCm39) |
W70R |
probably damaging |
Het |
| Nmral1 |
T |
A |
16: 4,534,267 (GRCm39) |
D58V |
probably damaging |
Het |
| Nr2c1 |
A |
G |
10: 94,028,769 (GRCm39) |
Y522C |
probably damaging |
Het |
| Or14c45 |
A |
G |
7: 86,176,678 (GRCm39) |
T238A |
possibly damaging |
Het |
| Or1e23 |
A |
G |
11: 73,407,203 (GRCm39) |
M274T |
probably benign |
Het |
| Or2d3b |
A |
G |
7: 106,513,926 (GRCm39) |
I174V |
probably benign |
Het |
| Or2w1b |
A |
G |
13: 21,300,543 (GRCm39) |
N227S |
probably benign |
Het |
| Pcdhga6 |
T |
A |
18: 37,841,868 (GRCm39) |
N529K |
probably benign |
Het |
| Pkmyt1 |
C |
T |
17: 23,953,148 (GRCm39) |
R235W |
probably benign |
Het |
| Prss43 |
T |
C |
9: 110,659,880 (GRCm39) |
S315P |
possibly damaging |
Het |
| Psmd1 |
T |
A |
1: 86,006,345 (GRCm39) |
V237E |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,083,476 (GRCm39) |
Y844H |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,764,064 (GRCm39) |
V3089I |
possibly damaging |
Het |
| Slc1a7 |
A |
G |
4: 107,865,394 (GRCm39) |
D294G |
possibly damaging |
Het |
| Slc5a10 |
T |
A |
11: 61,605,873 (GRCm39) |
T148S |
probably damaging |
Het |
| Spata25 |
T |
C |
2: 164,669,690 (GRCm39) |
D107G |
possibly damaging |
Het |
| Stambpl1 |
A |
G |
19: 34,208,901 (GRCm39) |
E132G |
probably damaging |
Het |
| Tgfb1 |
A |
G |
7: 25,396,373 (GRCm39) |
H222R |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Trmt1l |
T |
A |
1: 151,304,629 (GRCm39) |
M1K |
probably null |
Het |
| Vmn2r86 |
A |
T |
10: 130,288,279 (GRCm39) |
H407Q |
possibly damaging |
Het |
| Zfp35 |
T |
A |
18: 24,137,288 (GRCm39) |
I544N |
possibly 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 |
|
R5482:Wdr36
|
UTSW |
18 |
32,974,957 (GRCm39) |
missense |
probably benign |
0.19 |
|
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 |
|
|
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'- TATCTGTTGCATGGCAGCCG -3'
(R):5'- TTATAGTAGCTGTCCTTCCACAG -3'
Sequencing Primer
(F):5'- CTAGTCTTCGCTGCATATGGGAAC -3'
(R):5'- AGCTAAATTCCTTTCTCCTCCAGGG -3'
|
| Posted On |
2020-11-25 |
Incidental Mutation