Incidental Mutation 'R5627:Wdr36'
| ID |
441906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr36
|
| Ensembl Gene |
ENSMUSG00000038299 |
| Gene Name |
WD repeat domain 36 |
| Synonyms |
5730444A13Rik |
| MMRRC Submission |
043166-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5627 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
32970241-33000008 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32994691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 717
(D717E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053663]
[ENSMUST00000166214]
|
| AlphaFold |
Q3TAQ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053663
AA Change: D717E
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000052465
Gene: ENSMUSG00000038299
AA Change: D717E
| 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 |
possibly damaging
Transcript: ENSMUST00000166214
AA Change: D717E
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132189
Gene: ENSMUSG00000038299
AA Change: D717E
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Abl1 |
T |
C |
2: 31,690,595 (GRCm39) |
W705R |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,474,296 (GRCm39) |
V569D |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,587,298 (GRCm39) |
N425S |
possibly damaging |
Het |
| Atad2b |
A |
G |
12: 4,967,911 (GRCm39) |
D68G |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,511,604 (GRCm39) |
I173T |
probably damaging |
Het |
| Cenpe |
G |
T |
3: 134,941,234 (GRCm39) |
L716F |
possibly damaging |
Het |
| Cep85 |
A |
T |
4: 133,861,408 (GRCm39) |
L622Q |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,745,330 (GRCm39) |
|
probably null |
Het |
| Ces1f |
A |
T |
8: 94,006,327 (GRCm39) |
M1K |
probably null |
Het |
| Chil5 |
A |
G |
3: 105,926,951 (GRCm39) |
L228P |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,853,767 (GRCm39) |
E265G |
probably damaging |
Het |
| Col3a1 |
T |
C |
1: 45,370,720 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
T |
A |
5: 146,049,664 (GRCm39) |
D497E |
probably benign |
Het |
| Egfem1 |
G |
T |
3: 29,722,548 (GRCm39) |
E175* |
probably null |
Het |
| Eif4g2 |
A |
G |
7: 110,673,446 (GRCm39) |
Y778H |
probably benign |
Het |
| Fam98b |
T |
C |
2: 117,098,414 (GRCm39) |
C295R |
probably damaging |
Het |
| Gm3149 |
A |
T |
14: 15,702,790 (GRCm39) |
I246L |
probably benign |
Het |
| Gm5134 |
A |
G |
10: 75,821,942 (GRCm39) |
T259A |
possibly damaging |
Het |
| Gm5150 |
A |
G |
3: 16,017,564 (GRCm39) |
Y236H |
probably damaging |
Het |
| Golga2 |
C |
A |
2: 32,196,059 (GRCm39) |
Y864* |
probably null |
Het |
| Inpp4a |
A |
G |
1: 37,406,854 (GRCm39) |
D199G |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,470,445 (GRCm39) |
|
probably benign |
Het |
| Kremen1 |
T |
C |
11: 5,149,709 (GRCm39) |
T321A |
probably benign |
Het |
| Map3k3 |
A |
G |
11: 106,039,428 (GRCm39) |
S250G |
probably benign |
Het |
| Mtmr10 |
A |
T |
7: 63,986,500 (GRCm39) |
K526M |
probably damaging |
Het |
| Nbea |
C |
T |
3: 55,899,766 (GRCm39) |
C1461Y |
probably damaging |
Het |
| Nckap5l |
A |
T |
15: 99,325,587 (GRCm39) |
N305K |
possibly damaging |
Het |
| Nup210l |
A |
T |
3: 90,051,557 (GRCm39) |
Y567F |
probably damaging |
Het |
| Or11g26 |
A |
G |
14: 50,753,257 (GRCm39) |
M199V |
probably benign |
Het |
| Or14c39 |
G |
T |
7: 86,344,347 (GRCm39) |
V228F |
possibly damaging |
Het |
| Or4a70 |
A |
T |
2: 89,324,388 (GRCm39) |
N89K |
probably benign |
Het |
| Or56b2 |
G |
A |
7: 104,337,377 (GRCm39) |
V52M |
probably benign |
Het |
| Or5b96 |
T |
A |
19: 12,867,663 (GRCm39) |
I93F |
probably damaging |
Het |
| Or5g25 |
T |
A |
2: 85,477,991 (GRCm39) |
I225F |
probably damaging |
Het |
| Rcc1 |
T |
C |
4: 132,065,454 (GRCm39) |
R57G |
probably damaging |
Het |
| Rfx7 |
C |
T |
9: 72,440,066 (GRCm39) |
|
probably benign |
Het |
| Saraf |
T |
A |
8: 34,621,799 (GRCm39) |
M1K |
probably null |
Het |
| Serpinb9d |
C |
T |
13: 33,386,676 (GRCm39) |
T248I |
probably damaging |
Het |
| Slc38a6 |
A |
G |
12: 73,390,457 (GRCm39) |
I254M |
possibly damaging |
Het |
| Slc6a5 |
A |
G |
7: 49,561,522 (GRCm39) |
D18G |
possibly damaging |
Het |
| Supt20 |
A |
G |
3: 54,620,611 (GRCm39) |
D389G |
possibly damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,907,916 (GRCm39) |
I1001K |
probably damaging |
Het |
| Vcan |
CAAAA |
CAA |
13: 89,839,254 (GRCm39) |
|
probably null |
Het |
| Zfp318 |
T |
C |
17: 46,724,062 (GRCm39) |
S2022P |
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 |
|
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'- GAGGTGGGATCACTTCTTTCC -3'
(R):5'- GGACCTCTGTGATAGTACCACG -3'
Sequencing Primer
(F):5'- GGGATCACTTCTTTCCATGACAGAAC -3'
(R):5'- CTCTGTGATAGTACCACGTGAAAC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation