Incidental Mutation 'R7112:Wdr36'
| ID |
551594 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr36
|
| Ensembl Gene |
ENSMUSG00000038299 |
| Gene Name |
WD repeat domain 36 |
| Synonyms |
5730444A13Rik |
| MMRRC Submission |
045204-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7112 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
32970241-33000008 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32972504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 64
(V64A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053663]
[ENSMUST00000166214]
|
| AlphaFold |
Q3TAQ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053663
AA Change: V64A
PolyPhen 2
Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000052465
Gene: ENSMUSG00000038299
AA Change: V64A
| 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: V64A
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000132189
Gene: ENSMUSG00000038299
AA Change: V64A
| 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: 98.9%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
G |
T |
12: 112,747,747 (GRCm39) |
A1036E |
|
Het |
| Baz2b |
A |
T |
2: 59,792,528 (GRCm39) |
H533Q |
possibly damaging |
Het |
| Bcl2l11 |
T |
A |
2: 128,000,235 (GRCm39) |
W193R |
probably damaging |
Het |
| Bcl2l12 |
C |
T |
7: 44,646,338 (GRCm39) |
G24D |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,580,773 (GRCm39) |
V691A |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,922,984 (GRCm39) |
D304G |
probably damaging |
Het |
| Ces3a |
A |
T |
8: 105,784,594 (GRCm39) |
Q525H |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,151,142 (GRCm39) |
C1391F |
probably damaging |
Het |
| Cul7 |
G |
T |
17: 46,962,624 (GRCm39) |
G85V |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,090,366 (GRCm39) |
V4623I |
possibly damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,363,192 (GRCm39) |
L3918Q |
probably damaging |
Het |
| Exoc4 |
A |
T |
6: 33,898,423 (GRCm39) |
N881Y |
probably damaging |
Het |
| Flt1 |
G |
C |
5: 147,540,379 (GRCm39) |
A770G |
probably damaging |
Het |
| Fndc5 |
A |
G |
4: 129,035,915 (GRCm39) |
N184S |
probably benign |
Het |
| Folh1 |
A |
G |
7: 86,424,845 (GRCm39) |
|
probably null |
Het |
| Frem3 |
A |
T |
8: 81,338,660 (GRCm39) |
T318S |
probably damaging |
Het |
| Gba2 |
A |
G |
4: 43,568,453 (GRCm39) |
V671A |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Jph2 |
G |
A |
2: 163,217,704 (GRCm39) |
T324M |
probably damaging |
Het |
| Kank4 |
A |
G |
4: 98,649,758 (GRCm39) |
V937A |
probably damaging |
Het |
| Kdm3a |
T |
A |
6: 71,609,154 (GRCm39) |
E24D |
probably benign |
Het |
| Kidins220 |
T |
A |
12: 25,054,018 (GRCm39) |
L464Q |
probably damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,476,210 (GRCm39) |
V1159E |
probably damaging |
Het |
| Malrd1 |
A |
G |
2: 15,929,987 (GRCm39) |
N1498D |
unknown |
Het |
| Mplkipl1 |
T |
G |
19: 61,163,997 (GRCm39) |
D146A |
probably damaging |
Het |
| Mrgprb5 |
C |
T |
7: 47,818,655 (GRCm39) |
V27I |
probably benign |
Het |
| Mtfr2 |
A |
G |
10: 20,233,312 (GRCm39) |
N294D |
probably damaging |
Het |
| Muc6 |
A |
T |
7: 141,235,542 (GRCm39) |
L498H |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,948,050 (GRCm39) |
T227A |
possibly damaging |
Het |
| Nin |
C |
T |
12: 70,149,573 (GRCm39) |
R12Q |
|
Het |
| Obscn |
G |
C |
11: 58,920,151 (GRCm39) |
A27G |
|
Het |
| Or11h7 |
T |
A |
14: 50,891,583 (GRCm39) |
D296E |
probably benign |
Het |
| Or4k5 |
T |
G |
14: 50,385,392 (GRCm39) |
E313A |
probably benign |
Het |
| Or52r1b |
G |
A |
7: 102,690,862 (GRCm39) |
D54N |
probably damaging |
Het |
| Or8b48 |
T |
A |
9: 38,493,330 (GRCm39) |
Y252* |
probably null |
Het |
| Or8s5 |
T |
A |
15: 98,238,421 (GRCm39) |
M150L |
possibly damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,135 (GRCm39) |
S1672P |
unknown |
Het |
| Qprt |
A |
G |
7: 126,707,361 (GRCm39) |
V245A |
probably damaging |
Het |
| Rab11fip5 |
T |
A |
6: 85,325,176 (GRCm39) |
E377V |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,491,061 (GRCm39) |
T71A |
probably benign |
Het |
| Ret |
A |
T |
6: 118,174,063 (GRCm39) |
L11Q |
possibly damaging |
Het |
| Rp1 |
C |
T |
1: 4,419,241 (GRCm39) |
V624I |
probably benign |
Het |
| Scaf8 |
T |
A |
17: 3,213,304 (GRCm39) |
L131H |
unknown |
Het |
| Scgb2a2 |
A |
G |
19: 9,829,021 (GRCm39) |
R58G |
probably benign |
Het |
| Scn11a |
A |
G |
9: 119,583,875 (GRCm39) |
I1580T |
probably damaging |
Het |
| Slco4c1 |
T |
G |
1: 96,768,866 (GRCm39) |
K332T |
probably damaging |
Het |
| Sntg1 |
T |
G |
1: 8,518,289 (GRCm39) |
Y368S |
possibly damaging |
Het |
| Stim1 |
A |
G |
7: 102,057,615 (GRCm39) |
T143A |
probably benign |
Het |
| Tbr1 |
A |
G |
2: 61,642,160 (GRCm39) |
D475G |
probably benign |
Het |
| Tcp1 |
A |
G |
17: 13,136,760 (GRCm39) |
D47G |
probably damaging |
Het |
| Tpgs2 |
T |
C |
18: 25,282,194 (GRCm39) |
D119G |
probably damaging |
Het |
| Trim40 |
C |
A |
17: 37,193,534 (GRCm39) |
R225M |
probably null |
Het |
| Tro |
GCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC |
GCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC |
X: 149,428,852 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
A |
T |
7: 63,885,593 (GRCm39) |
N870Y |
probably damaging |
Het |
| Tsr3 |
A |
G |
17: 25,459,445 (GRCm39) |
D47G |
probably benign |
Het |
| Vil1 |
G |
A |
1: 74,455,161 (GRCm39) |
G38R |
probably damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,325,880 (GRCm39) |
Q166L |
possibly damaging |
Het |
| Wdr33 |
C |
T |
18: 32,026,056 (GRCm39) |
T919I |
unknown |
Het |
| Xpnpep1 |
T |
C |
19: 52,998,538 (GRCm39) |
I237V |
probably benign |
Het |
| Zfp780b |
A |
T |
7: 27,662,566 (GRCm39) |
I663N |
probably damaging |
Het |
| Zfyve9 |
G |
A |
4: 108,507,519 (GRCm39) |
A513V |
probably benign |
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 |
|
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'- ACTTCTGACTAATTCACAAGCATGC -3'
(R):5'- AGGCCCAAGGGGTTTAATTC -3'
Sequencing Primer
(F):5'- GACTAATTCACAAGCATGCTGAATAG -3'
(R):5'- AGGGGTTTAATTCCCAGCAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation