Incidental Mutation 'R9663:Wdr11'
| ID |
727687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr11
|
| Ensembl Gene |
ENSMUSG00000042055 |
| Gene Name |
WD repeat domain 11 |
| Synonyms |
Wdr11, Brwd2, 2900055P10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R9663 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
129193587-129237462 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 129210647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 517
(V517G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084519]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084519
AA Change: V517G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081567
Gene: ENSMUSG00000042055
AA Change: V517G
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
50 |
99 |
2e-1 |
SMART |
|
WD40
|
102 |
145 |
2.84e2 |
SMART |
|
low complexity region
|
189 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
454 |
465 |
N/A |
INTRINSIC |
|
WD40
|
552 |
595 |
4.42e1 |
SMART |
|
WD40
|
696 |
735 |
1.66e0 |
SMART |
|
WD40
|
737 |
777 |
1.43e1 |
SMART |
|
WD40
|
780 |
821 |
1.38e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148752
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh6 |
T |
C |
7: 30,013,371 (GRCm39) |
S161P |
probably damaging |
Het |
| Alppl2 |
T |
A |
1: 87,015,753 (GRCm39) |
H297L |
probably benign |
Het |
| Angptl2 |
A |
G |
2: 33,118,231 (GRCm39) |
R2G |
probably benign |
Het |
| Arhgef15 |
T |
A |
11: 68,845,255 (GRCm39) |
N199I |
probably damaging |
Het |
| Asns |
A |
T |
6: 7,680,132 (GRCm39) |
I328K |
probably damaging |
Het |
| Atad2 |
G |
T |
15: 57,971,540 (GRCm39) |
T734K |
probably benign |
Het |
| Capn3 |
A |
C |
2: 120,316,859 (GRCm39) |
M283L |
probably benign |
Het |
| Catsperd |
T |
A |
17: 56,960,751 (GRCm39) |
C384S |
possibly damaging |
Het |
| Cd101 |
A |
G |
3: 100,911,222 (GRCm39) |
V816A |
probably benign |
Het |
| Cd5 |
T |
G |
19: 10,703,858 (GRCm39) |
D68A |
probably benign |
Het |
| Ceacam18 |
G |
A |
7: 43,288,764 (GRCm39) |
V172M |
probably damaging |
Het |
| Cfap100 |
G |
A |
6: 90,386,328 (GRCm39) |
R276C |
|
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Creb3l2 |
A |
G |
6: 37,356,926 (GRCm39) |
V47A |
probably damaging |
Het |
| Crebbp |
T |
A |
16: 3,933,654 (GRCm39) |
E1017D |
probably damaging |
Het |
| Cttn |
T |
C |
7: 144,011,461 (GRCm39) |
D116G |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,079,070 (GRCm39) |
|
probably null |
Het |
| Dcaf13 |
C |
T |
15: 38,982,178 (GRCm39) |
T48I |
possibly damaging |
Het |
| Dsc2 |
T |
A |
18: 20,171,205 (GRCm39) |
D598V |
probably damaging |
Het |
| Dtx3 |
G |
A |
10: 127,028,518 (GRCm39) |
T237I |
probably damaging |
Het |
| E130308A19Rik |
A |
G |
4: 59,719,764 (GRCm39) |
E432G |
possibly damaging |
Het |
| Eps15 |
G |
A |
4: 109,179,270 (GRCm39) |
V219I |
probably benign |
Het |
| Ext1 |
A |
G |
15: 53,208,456 (GRCm39) |
S102P |
probably damaging |
Het |
| Fam151a |
A |
T |
4: 106,604,894 (GRCm39) |
I419L |
possibly damaging |
Het |
| Fam89a |
C |
T |
8: 125,478,436 (GRCm39) |
G38D |
probably damaging |
Het |
| Fdx2 |
G |
T |
9: 20,984,717 (GRCm39) |
A29E |
probably benign |
Het |
| Hhla1 |
G |
A |
15: 65,813,630 (GRCm39) |
T234I |
probably damaging |
Het |
| Hspb6 |
G |
A |
7: 30,253,714 (GRCm39) |
V76M |
probably damaging |
Het |
| Ighmbp2 |
C |
A |
19: 3,315,325 (GRCm39) |
K698N |
probably benign |
Het |
| Invs |
A |
G |
4: 48,426,218 (GRCm39) |
I1002V |
probably damaging |
Het |
| Itga8 |
A |
C |
2: 12,196,580 (GRCm39) |
F612L |
probably benign |
Het |
| Kcnma1 |
G |
T |
14: 24,053,897 (GRCm39) |
F99L |
probably benign |
Het |
| Klf11 |
A |
G |
12: 24,705,731 (GRCm39) |
Y395C |
probably damaging |
Het |
| Kplce |
A |
T |
3: 92,776,283 (GRCm39) |
N133K |
probably benign |
Het |
| Lama4 |
G |
A |
10: 38,923,944 (GRCm39) |
E451K |
probably damaging |
Het |
| Lrr1 |
A |
G |
12: 69,221,884 (GRCm39) |
Y342C |
probably damaging |
Het |
| Lrrc18 |
A |
T |
14: 32,731,021 (GRCm39) |
M187L |
probably benign |
Het |
| Luc7l3 |
A |
G |
11: 94,187,756 (GRCm39) |
S311P |
unknown |
Het |
| Lypd3 |
T |
A |
7: 24,338,349 (GRCm39) |
S133R |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,859,699 (GRCm39) |
S1233T |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,857,463 (GRCm39) |
E1062D |
probably benign |
Het |
| Myh7 |
T |
C |
14: 55,221,098 (GRCm39) |
K942E |
probably damaging |
Het |
| Nedd9 |
T |
C |
13: 41,469,941 (GRCm39) |
D404G |
probably damaging |
Het |
| Nisch |
C |
A |
14: 30,895,625 (GRCm39) |
A1022S |
probably damaging |
Het |
| Nkx3-1 |
A |
G |
14: 69,429,321 (GRCm39) |
D113G |
probably benign |
Het |
| Or1ad6 |
T |
C |
11: 50,860,165 (GRCm39) |
F107L |
probably benign |
Het |
| Or6c1b |
A |
T |
10: 129,272,929 (GRCm39) |
I83F |
probably damaging |
Het |
| Or6c215 |
A |
G |
10: 129,637,497 (GRCm39) |
F299S |
probably benign |
Het |
| Otub1 |
C |
T |
19: 7,176,813 (GRCm39) |
G181D |
probably damaging |
Het |
| Palb2 |
T |
C |
7: 121,726,304 (GRCm39) |
H522R |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,459 (GRCm39) |
D570V |
probably damaging |
Het |
| Phyhd1 |
A |
G |
2: 30,171,070 (GRCm39) |
N271S |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,498,291 (GRCm39) |
Q50R |
probably benign |
Het |
| Rfx2 |
C |
A |
17: 57,087,895 (GRCm39) |
V499L |
possibly damaging |
Het |
| Sema5a |
C |
T |
15: 32,673,546 (GRCm39) |
Q795* |
probably null |
Het |
| Sf3a2 |
A |
G |
10: 80,637,309 (GRCm39) |
N49S |
probably damaging |
Het |
| Sft2d1 |
T |
G |
17: 8,545,812 (GRCm39) |
S156A |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc25a33 |
T |
A |
4: 149,836,913 (GRCm39) |
T144S |
probably benign |
Het |
| Slc7a13 |
A |
T |
4: 19,818,818 (GRCm39) |
K6M |
possibly damaging |
Het |
| Spata31e5 |
G |
T |
1: 28,816,536 (GRCm39) |
H499N |
probably benign |
Het |
| Tfap2c |
G |
A |
2: 172,399,213 (GRCm39) |
D487N |
probably damaging |
Het |
| Thbs1 |
G |
A |
2: 117,949,897 (GRCm39) |
R624Q |
probably damaging |
Het |
| Thsd4 |
A |
G |
9: 59,890,026 (GRCm39) |
F857S |
probably damaging |
Het |
| Tnfrsf4 |
A |
G |
4: 156,100,884 (GRCm39) |
I272V |
probably benign |
Het |
| Trak1 |
C |
T |
9: 121,220,924 (GRCm39) |
R45C |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,756,320 (GRCm39) |
S1167P |
probably benign |
Het |
| Ttc14 |
A |
T |
3: 33,855,537 (GRCm39) |
T161S |
probably benign |
Het |
| Ttll1 |
A |
G |
15: 83,380,579 (GRCm39) |
V262A |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ufsp1 |
C |
A |
5: 137,293,545 (GRCm39) |
P165Q |
possibly damaging |
Het |
| Usp19 |
T |
G |
9: 108,371,894 (GRCm39) |
L390R |
probably damaging |
Het |
| Vegfc |
G |
T |
8: 54,634,338 (GRCm39) |
C339F |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,463,549 (GRCm39) |
N428K |
possibly damaging |
Het |
| Xkr4 |
T |
A |
1: 3,286,519 (GRCm39) |
D557V |
probably benign |
Het |
| Zan |
C |
A |
5: 137,379,119 (GRCm39) |
C5327F |
unknown |
Het |
| Zfp770 |
A |
T |
2: 114,026,949 (GRCm39) |
N373K |
probably benign |
Het |
|
| Other mutations in Wdr11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Wdr11
|
APN |
7 |
129,194,817 (GRCm39) |
splice site |
probably null |
|
|
IGL01121:Wdr11
|
APN |
7 |
129,229,746 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01385:Wdr11
|
APN |
7 |
129,209,637 (GRCm39) |
missense |
probably benign |
|
|
IGL01923:Wdr11
|
APN |
7 |
129,234,046 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02274:Wdr11
|
APN |
7 |
129,232,896 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02894:Wdr11
|
APN |
7 |
129,232,890 (GRCm39) |
splice site |
probably benign |
|
|
IGL02927:Wdr11
|
APN |
7 |
129,208,822 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03008:Wdr11
|
APN |
7 |
129,208,715 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03026:Wdr11
|
APN |
7 |
129,226,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03354:Wdr11
|
APN |
7 |
129,227,026 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03379:Wdr11
|
APN |
7 |
129,200,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
beeline
|
UTSW |
7 |
129,207,437 (GRCm39) |
nonsense |
probably null |
|
|
bekummernis
|
UTSW |
7 |
129,226,451 (GRCm39) |
missense |
probably damaging |
0.97 |
|
hort
|
UTSW |
7 |
129,232,523 (GRCm39) |
critical splice donor site |
probably null |
|
|
Knees
|
UTSW |
7 |
129,236,560 (GRCm39) |
missense |
probably benign |
0.02 |
|
Propeller
|
UTSW |
7 |
129,208,399 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Zuversicht
|
UTSW |
7 |
129,208,264 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0003:Wdr11
|
UTSW |
7 |
129,200,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0928:Wdr11
|
UTSW |
7 |
129,208,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Wdr11
|
UTSW |
7 |
129,208,831 (GRCm39) |
unclassified |
probably benign |
|
|
R1645:Wdr11
|
UTSW |
7 |
129,215,613 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1908:Wdr11
|
UTSW |
7 |
129,206,954 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1938:Wdr11
|
UTSW |
7 |
129,208,331 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2122:Wdr11
|
UTSW |
7 |
129,233,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2148:Wdr11
|
UTSW |
7 |
129,230,807 (GRCm39) |
splice site |
probably null |
|
|
R2240:Wdr11
|
UTSW |
7 |
129,207,418 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2362:Wdr11
|
UTSW |
7 |
129,236,560 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3774:Wdr11
|
UTSW |
7 |
129,233,417 (GRCm39) |
splice site |
probably null |
|
|
R4297:Wdr11
|
UTSW |
7 |
129,226,910 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4546:Wdr11
|
UTSW |
7 |
129,230,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4787:Wdr11
|
UTSW |
7 |
129,210,658 (GRCm39) |
splice site |
probably benign |
|
|
R4789:Wdr11
|
UTSW |
7 |
129,220,394 (GRCm39) |
nonsense |
probably null |
|
|
R4807:Wdr11
|
UTSW |
7 |
129,229,746 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4855:Wdr11
|
UTSW |
7 |
129,202,158 (GRCm39) |
splice site |
probably null |
|
|
R4898:Wdr11
|
UTSW |
7 |
129,235,445 (GRCm39) |
missense |
probably benign |
|
|
R5022:Wdr11
|
UTSW |
7 |
129,226,435 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5326:Wdr11
|
UTSW |
7 |
129,226,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5398:Wdr11
|
UTSW |
7 |
129,232,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6120:Wdr11
|
UTSW |
7 |
129,226,515 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6136:Wdr11
|
UTSW |
7 |
129,220,427 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6280:Wdr11
|
UTSW |
7 |
129,200,830 (GRCm39) |
nonsense |
probably null |
|
|
R6352:Wdr11
|
UTSW |
7 |
129,208,399 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6432:Wdr11
|
UTSW |
7 |
129,208,242 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6766:Wdr11
|
UTSW |
7 |
129,226,036 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6911:Wdr11
|
UTSW |
7 |
129,208,819 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7135:Wdr11
|
UTSW |
7 |
129,229,830 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7151:Wdr11
|
UTSW |
7 |
129,208,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7463:Wdr11
|
UTSW |
7 |
129,208,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7503:Wdr11
|
UTSW |
7 |
129,204,834 (GRCm39) |
missense |
probably benign |
|
|
R8097:Wdr11
|
UTSW |
7 |
129,209,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8254:Wdr11
|
UTSW |
7 |
129,236,560 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8354:Wdr11
|
UTSW |
7 |
129,204,723 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8377:Wdr11
|
UTSW |
7 |
129,208,412 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8416:Wdr11
|
UTSW |
7 |
129,232,403 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8708:Wdr11
|
UTSW |
7 |
129,200,780 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8896:Wdr11
|
UTSW |
7 |
129,207,437 (GRCm39) |
nonsense |
probably null |
|
|
R9092:Wdr11
|
UTSW |
7 |
129,226,451 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9136:Wdr11
|
UTSW |
7 |
129,204,816 (GRCm39) |
missense |
|
|
|
R9315:Wdr11
|
UTSW |
7 |
129,208,264 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9343:Wdr11
|
UTSW |
7 |
129,232,523 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9771:Wdr11
|
UTSW |
7 |
129,206,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Wdr11
|
UTSW |
7 |
129,209,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCGTTCTGATAAGGATGG -3'
(R):5'- CTCCCAATGAACCTTAGCTCG -3'
Sequencing Primer
(F):5'- AGTATATAATCTGGATGCTTTTGTGG -3'
(R):5'- TTAGCTCGACACGCATCAGTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation