Incidental Mutation 'R2240:Wdr11'
| ID |
240320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr11
|
| Ensembl Gene |
ENSMUSG00000042055 |
| Gene Name |
WD repeat domain 11 |
| Synonyms |
Wdr11, Brwd2, 2900055P10Rik |
| MMRRC Submission |
040240-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R2240 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
129193587-129237462 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
G to T
at 129207418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084519]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084519
|
| SMART Domains |
Protein: ENSMUSP00000081567
Gene: ENSMUSG00000042055
| 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 |
noncoding transcript
Transcript: ENSMUST00000136734
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143849
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148752
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149541
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206442
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,595,417 (GRCm39) |
I318N |
probably damaging |
Het |
| Abl1 |
A |
G |
2: 31,690,517 (GRCm39) |
K679E |
probably benign |
Het |
| Actr8 |
A |
G |
14: 29,711,714 (GRCm39) |
H420R |
possibly damaging |
Het |
| Arhgap29 |
T |
A |
3: 121,805,102 (GRCm39) |
V897D |
probably benign |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Bicc1 |
A |
G |
10: 70,782,633 (GRCm39) |
|
probably null |
Het |
| Brd4 |
T |
C |
17: 32,432,613 (GRCm39) |
|
probably benign |
Het |
| Camk2g |
T |
C |
14: 20,815,514 (GRCm39) |
E184G |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,169,032 (GRCm39) |
S240G |
possibly damaging |
Het |
| Cbx7 |
C |
A |
15: 79,802,558 (GRCm39) |
A240S |
probably damaging |
Het |
| Ccdc181 |
A |
T |
1: 164,107,596 (GRCm39) |
D93V |
probably damaging |
Het |
| Ces2g |
A |
C |
8: 105,689,134 (GRCm39) |
S37R |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,714,746 (GRCm39) |
R624W |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,531,696 (GRCm39) |
K703E |
probably benign |
Het |
| Clec2h |
T |
C |
6: 128,652,845 (GRCm39) |
V204A |
probably benign |
Het |
| Cltb |
T |
C |
13: 54,746,967 (GRCm39) |
N3S |
possibly damaging |
Het |
| Col9a1 |
A |
G |
1: 24,218,582 (GRCm39) |
I65V |
unknown |
Het |
| D430041D05Rik |
C |
T |
2: 103,987,161 (GRCm39) |
R1895Q |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,021,931 (GRCm39) |
S1191G |
probably benign |
Het |
| Ehf |
G |
A |
2: 103,104,420 (GRCm39) |
P163S |
probably benign |
Het |
| Fam170b |
A |
C |
14: 32,557,825 (GRCm39) |
H220P |
probably damaging |
Het |
| Fastkd1 |
G |
A |
2: 69,527,297 (GRCm39) |
T598I |
probably benign |
Het |
| Fignl2 |
C |
T |
15: 100,951,916 (GRCm39) |
G122D |
probably damaging |
Het |
| Foxp4 |
C |
A |
17: 48,182,201 (GRCm39) |
V530L |
unknown |
Het |
| Gcnt1 |
G |
T |
19: 17,306,695 (GRCm39) |
D343E |
possibly damaging |
Het |
| Gja8 |
T |
G |
3: 96,827,618 (GRCm39) |
N15H |
probably benign |
Het |
| Gm128 |
T |
C |
3: 95,148,243 (GRCm39) |
E17G |
probably benign |
Het |
| Gnl1 |
T |
C |
17: 36,293,571 (GRCm39) |
V252A |
probably benign |
Het |
| Gpld1 |
G |
A |
13: 25,166,490 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
A |
G |
11: 97,242,559 (GRCm39) |
L95P |
probably damaging |
Het |
| Gtf2a1 |
A |
T |
12: 91,553,513 (GRCm39) |
D31E |
possibly damaging |
Het |
| Il12a |
T |
A |
3: 68,601,517 (GRCm39) |
Y58* |
probably null |
Het |
| Il1r2 |
T |
C |
1: 40,144,630 (GRCm39) |
W106R |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,543,488 (GRCm39) |
S374G |
probably benign |
Het |
| Mafb |
A |
T |
2: 160,207,947 (GRCm39) |
V217E |
probably damaging |
Het |
| Mapk13 |
T |
A |
17: 28,997,085 (GRCm39) |
D292E |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,433,209 (GRCm39) |
D871G |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,765,701 (GRCm39) |
T5220K |
possibly damaging |
Het |
| Mfsd6 |
T |
C |
1: 52,699,978 (GRCm39) |
I723M |
probably damaging |
Het |
| Mia2 |
G |
A |
12: 59,154,668 (GRCm39) |
S127N |
probably benign |
Het |
| Mpeg1 |
A |
C |
19: 12,440,402 (GRCm39) |
E620A |
probably damaging |
Het |
| Mrgprb3 |
A |
T |
7: 48,293,389 (GRCm39) |
F54Y |
probably damaging |
Het |
| Mtx2 |
A |
G |
2: 74,699,696 (GRCm39) |
I156V |
probably benign |
Het |
| Neurog1 |
T |
C |
13: 56,399,348 (GRCm39) |
E133G |
probably damaging |
Het |
| Nid2 |
G |
A |
14: 19,855,982 (GRCm39) |
D1236N |
probably damaging |
Het |
| Nif3l1 |
A |
G |
1: 58,491,288 (GRCm39) |
T213A |
probably benign |
Het |
| Or7e173 |
A |
G |
9: 19,938,440 (GRCm39) |
S265P |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,890,453 (GRCm39) |
M1V |
probably null |
Het |
| Pde4dip |
C |
T |
3: 97,631,480 (GRCm39) |
R1143K |
probably benign |
Het |
| Pgam2 |
T |
C |
11: 5,753,265 (GRCm39) |
|
probably benign |
Het |
| Plec |
T |
C |
15: 76,090,250 (GRCm39) |
D30G |
probably damaging |
Het |
| Pramel5 |
C |
A |
4: 143,999,506 (GRCm39) |
E194* |
probably null |
Het |
| Prss22 |
T |
A |
17: 24,215,755 (GRCm39) |
S56C |
probably damaging |
Het |
| Rab23 |
A |
G |
1: 33,778,406 (GRCm39) |
N216S |
probably benign |
Het |
| Rasgrf1 |
A |
T |
9: 89,858,815 (GRCm39) |
E491V |
probably damaging |
Het |
| Rbbp8 |
C |
T |
18: 11,810,726 (GRCm39) |
T76I |
probably damaging |
Het |
| Rtn2 |
G |
A |
7: 19,020,754 (GRCm39) |
|
probably null |
Het |
| Sdr39u1 |
A |
T |
14: 56,137,124 (GRCm39) |
N62K |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Slc26a3 |
T |
C |
12: 31,507,071 (GRCm39) |
V342A |
probably damaging |
Het |
| Slc49a3 |
A |
G |
5: 108,592,573 (GRCm39) |
S234P |
probably benign |
Het |
| Snx30 |
G |
T |
4: 59,886,515 (GRCm39) |
C308F |
probably damaging |
Het |
| Timd2 |
A |
T |
11: 46,569,043 (GRCm39) |
V205E |
probably benign |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Tnfaip6 |
G |
A |
2: 51,940,926 (GRCm39) |
D156N |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,232,461 (GRCm39) |
E1463D |
probably damaging |
Het |
| Urb2 |
C |
A |
8: 124,756,878 (GRCm39) |
P862T |
probably benign |
Het |
| Vmn1r64 |
A |
T |
7: 5,887,369 (GRCm39) |
L58* |
probably null |
Het |
| Vmn2r3 |
C |
A |
3: 64,166,483 (GRCm39) |
G883C |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,837,465 (GRCm39) |
C2707S |
possibly damaging |
Het |
| Wdr37 |
T |
A |
13: 8,911,268 (GRCm39) |
|
probably benign |
Het |
| Wtap |
G |
A |
17: 13,194,352 (GRCm39) |
Q95* |
probably null |
Het |
| Zfp26 |
A |
T |
9: 20,348,563 (GRCm39) |
L667H |
probably damaging |
Het |
| Zfp268 |
C |
T |
4: 145,311,891 (GRCm39) |
|
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 |
|
|
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 |
|
|
R9663:Wdr11
|
UTSW |
7 |
129,210,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGTAACTTACATAGGTGTCAATGAC -3'
(R):5'- ATGTCATCAACACAATTCCATGGG -3'
Sequencing Primer
(F):5'- GTCTCCTATGTTGTGCTTAT -3'
(R):5'- CCATGGGATACTTTATAAGCATCTTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation