Incidental Mutation 'R6076:Wdr36'
ID |
482768 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr36
|
Ensembl Gene |
ENSMUSG00000038299 |
Gene Name |
WD repeat domain 36 |
Synonyms |
5730444A13Rik |
MMRRC Submission |
044237-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6076 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
32970241-33000008 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 32979998 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Tyrosine
at position 241
(S241Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132189
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053663]
[ENSMUST00000166214]
|
AlphaFold |
Q3TAQ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053663
AA Change: S241Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000052465 Gene: ENSMUSG00000038299 AA Change: S241Y
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 damaging
Transcript: ENSMUST00000166214
AA Change: S241Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132189 Gene: ENSMUSG00000038299 AA Change: S241Y
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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Atp6v0a1 |
T |
A |
11: 100,945,886 (GRCm39) |
I723N |
probably damaging |
Het |
C530025M09Rik |
T |
C |
2: 149,672,670 (GRCm39) |
|
probably benign |
Het |
Cdkn1a |
A |
G |
17: 29,318,332 (GRCm39) |
K149E |
probably damaging |
Het |
Cep70 |
T |
A |
9: 99,180,558 (GRCm39) |
I571N |
probably damaging |
Het |
Cimip4 |
T |
C |
15: 78,270,427 (GRCm39) |
R114G |
possibly damaging |
Het |
Col9a1 |
A |
T |
1: 24,234,457 (GRCm39) |
|
probably benign |
Het |
Csde1 |
G |
A |
3: 102,948,545 (GRCm39) |
D132N |
possibly damaging |
Het |
Dlk1 |
A |
G |
12: 109,425,895 (GRCm39) |
Q256R |
probably damaging |
Het |
Epha6 |
A |
T |
16: 60,026,073 (GRCm39) |
D456E |
probably damaging |
Het |
Ephx2 |
A |
G |
14: 66,330,297 (GRCm39) |
V354A |
probably damaging |
Het |
Fpr-rs4 |
A |
G |
17: 18,242,317 (GRCm39) |
N108S |
probably damaging |
Het |
Gimap1 |
C |
T |
6: 48,719,521 (GRCm39) |
Q116* |
probably null |
Het |
Gm10784 |
T |
C |
13: 50,099,310 (GRCm39) |
|
noncoding transcript |
Het |
Grid2ip |
G |
C |
5: 143,373,130 (GRCm39) |
S736T |
probably benign |
Het |
Hic1 |
T |
C |
11: 75,058,154 (GRCm39) |
D245G |
probably damaging |
Het |
Hpcal4 |
C |
A |
4: 123,084,514 (GRCm39) |
Q148K |
probably benign |
Het |
Hspa14 |
C |
T |
2: 3,512,109 (GRCm39) |
S55N |
probably benign |
Het |
Hspa1b |
G |
A |
17: 35,176,473 (GRCm39) |
T504I |
probably damaging |
Het |
Jchain |
G |
T |
5: 88,675,631 (GRCm39) |
T3N |
probably benign |
Het |
Kl |
C |
G |
5: 150,876,466 (GRCm39) |
F95L |
probably damaging |
Het |
Kndc1 |
A |
G |
7: 139,481,954 (GRCm39) |
T115A |
probably damaging |
Het |
Lrp8 |
G |
T |
4: 107,704,656 (GRCm39) |
R292L |
possibly damaging |
Het |
Lrrc15 |
T |
A |
16: 30,091,806 (GRCm39) |
D511V |
probably benign |
Het |
Mapk8 |
A |
G |
14: 33,112,250 (GRCm39) |
C213R |
probably damaging |
Het |
Mcph1 |
C |
T |
8: 18,682,015 (GRCm39) |
P384L |
probably benign |
Het |
Mrps7 |
T |
C |
11: 115,495,713 (GRCm39) |
S84P |
probably damaging |
Het |
Nceh1 |
A |
C |
3: 27,333,344 (GRCm39) |
I147L |
probably benign |
Het |
Noxa1 |
A |
T |
2: 24,975,821 (GRCm39) |
I409N |
probably damaging |
Het |
Or1p1c |
T |
C |
11: 74,161,088 (GRCm39) |
I291T |
probably damaging |
Het |
Pkd1 |
G |
A |
17: 24,800,004 (GRCm39) |
G2975R |
probably benign |
Het |
Ppip5k1 |
T |
C |
2: 121,167,591 (GRCm39) |
D17G |
probably null |
Het |
Prex2 |
T |
A |
1: 11,256,174 (GRCm39) |
Y1182N |
probably benign |
Het |
Rasa2 |
T |
C |
9: 96,427,699 (GRCm39) |
N722S |
probably benign |
Het |
Rcc1l |
A |
G |
5: 134,198,167 (GRCm39) |
V155A |
possibly damaging |
Het |
Rest |
A |
G |
5: 77,430,821 (GRCm39) |
E1080G |
unknown |
Het |
Sacs |
A |
T |
14: 61,441,985 (GRCm39) |
K1344* |
probably null |
Het |
Sec16a |
C |
T |
2: 26,313,954 (GRCm39) |
E1884K |
probably damaging |
Het |
Secisbp2 |
C |
A |
13: 51,833,813 (GRCm39) |
T651K |
probably damaging |
Het |
Sema3e |
A |
G |
5: 14,291,100 (GRCm39) |
D620G |
probably benign |
Het |
Slc6a17 |
A |
G |
3: 107,379,387 (GRCm39) |
S553P |
possibly damaging |
Het |
Smpd5 |
C |
A |
15: 76,179,092 (GRCm39) |
N153K |
probably damaging |
Het |
Ube2d4 |
T |
A |
15: 58,718,992 (GRCm39) |
|
noncoding transcript |
Het |
Vps13c |
A |
G |
9: 67,818,884 (GRCm39) |
I1102V |
probably damaging |
Het |
Wdr7 |
T |
A |
18: 63,872,348 (GRCm39) |
D427E |
probably damaging |
Het |
Zfp945 |
G |
A |
17: 23,070,432 (GRCm39) |
P489L |
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 |
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 |
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'- TGGTAGTGCCAGAATCACTG -3'
(R):5'- GCCATTATTGGATGACCATCTG -3'
Sequencing Primer
(F):5'- CAGAATCACTGGGTTTTTCCTTC -3'
(R):5'- TCTCAAGACACTGCCTAC -3'
|
Posted On |
2017-07-14 |