Incidental Mutation 'R5326:Wdr11'
| ID |
421965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr11
|
| Ensembl Gene |
ENSMUSG00000042055 |
| Gene Name |
WD repeat domain 11 |
| Synonyms |
Wdr11, Brwd2, 2900055P10Rik |
| MMRRC Submission |
042909-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R5326 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
129193587-129237462 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129226973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 812
(S812P)
|
| 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: S812P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081567
Gene: ENSMUSG00000042055
AA Change: S812P
| 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: ENSMUST00000136560
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140877
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143422
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148752
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149541
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
G |
6: 83,138,336 (GRCm39) |
T127A |
probably damaging |
Het |
| Aadacl2 |
C |
T |
3: 59,932,484 (GRCm39) |
T333I |
probably damaging |
Het |
| Actl6b |
T |
C |
5: 137,565,313 (GRCm39) |
S366P |
probably damaging |
Het |
| Actr10 |
T |
C |
12: 71,001,430 (GRCm39) |
|
probably benign |
Het |
| Adgrf5 |
T |
A |
17: 43,750,965 (GRCm39) |
I510N |
probably damaging |
Het |
| Adra2a |
A |
G |
19: 54,035,112 (GRCm39) |
Y156C |
probably damaging |
Het |
| Angpt4 |
T |
C |
2: 151,767,464 (GRCm39) |
|
probably null |
Het |
| Ankdd1a |
T |
A |
9: 65,411,472 (GRCm39) |
|
probably null |
Het |
| AW146154 |
C |
A |
7: 41,130,801 (GRCm39) |
G105V |
probably benign |
Het |
| Brd3 |
A |
G |
2: 27,340,556 (GRCm39) |
L551P |
probably benign |
Het |
| Calb2 |
C |
T |
8: 110,883,610 (GRCm39) |
G38D |
possibly damaging |
Het |
| Cand1 |
G |
A |
10: 119,047,933 (GRCm39) |
A519V |
probably benign |
Het |
| Cnbd1 |
T |
C |
4: 18,860,517 (GRCm39) |
T410A |
possibly damaging |
Het |
| Cndp2 |
A |
T |
18: 84,690,201 (GRCm39) |
M247K |
probably damaging |
Het |
| Cog6 |
T |
A |
3: 52,921,237 (GRCm39) |
Q123L |
probably null |
Het |
| Crx |
G |
A |
7: 15,602,262 (GRCm39) |
R139C |
probably damaging |
Het |
| Ctrc |
A |
G |
4: 141,571,037 (GRCm39) |
Y68H |
probably damaging |
Het |
| Ddx4 |
T |
C |
13: 112,757,779 (GRCm39) |
D326G |
probably damaging |
Het |
| Depdc1a |
T |
C |
3: 159,232,286 (GRCm39) |
V679A |
probably damaging |
Het |
| Dyrk1a |
A |
G |
16: 94,487,440 (GRCm39) |
D512G |
probably damaging |
Het |
| Edem1 |
C |
T |
6: 108,831,290 (GRCm39) |
R584C |
possibly damaging |
Het |
| Emcn |
A |
G |
3: 137,085,638 (GRCm39) |
T79A |
probably benign |
Het |
| Fbrsl1 |
C |
T |
5: 110,526,307 (GRCm39) |
G437R |
probably damaging |
Het |
| Fbxo9 |
T |
C |
9: 78,008,938 (GRCm39) |
M12V |
possibly damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,854,914 (GRCm39) |
I1847F |
probably damaging |
Het |
| Flii |
A |
G |
11: 60,609,688 (GRCm39) |
S640P |
probably benign |
Het |
| Frs2 |
T |
C |
10: 116,913,468 (GRCm39) |
S121G |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,812,207 (GRCm39) |
N2842I |
possibly damaging |
Het |
| Fst |
G |
T |
13: 114,592,241 (GRCm39) |
Q159K |
probably damaging |
Het |
| Ggt1 |
T |
C |
10: 75,421,540 (GRCm39) |
|
probably null |
Het |
| Gigyf2 |
T |
C |
1: 87,352,860 (GRCm39) |
|
probably benign |
Het |
| Gm10439 |
T |
G |
X: 148,419,159 (GRCm39) |
*434E |
probably null |
Het |
| Gm9476 |
T |
A |
10: 100,142,996 (GRCm39) |
|
noncoding transcript |
Het |
| Gmcl1 |
A |
T |
6: 86,703,127 (GRCm39) |
N102K |
possibly damaging |
Het |
| Gml |
T |
C |
15: 74,688,299 (GRCm39) |
N56S |
probably damaging |
Het |
| Gpam |
A |
C |
19: 55,079,597 (GRCm39) |
S128R |
probably benign |
Het |
| Gucy1b2 |
C |
T |
14: 62,690,779 (GRCm39) |
|
probably null |
Het |
| Hhipl2 |
A |
G |
1: 183,214,055 (GRCm39) |
D377G |
probably damaging |
Het |
| Hmx3 |
C |
T |
7: 131,146,146 (GRCm39) |
Q285* |
probably null |
Het |
| Hspa14 |
A |
G |
2: 3,503,560 (GRCm39) |
V116A |
possibly damaging |
Het |
| Ighv5-17 |
T |
C |
12: 113,822,878 (GRCm39) |
D81G |
possibly damaging |
Het |
| Ipo5 |
T |
C |
14: 121,163,683 (GRCm39) |
V247A |
probably benign |
Het |
| Iqcd |
A |
G |
5: 120,740,440 (GRCm39) |
Q257R |
probably damaging |
Het |
| Itpk1 |
T |
C |
12: 102,540,225 (GRCm39) |
N286S |
possibly damaging |
Het |
| Knl1 |
T |
A |
2: 118,898,829 (GRCm39) |
C177S |
possibly damaging |
Het |
| Knop1 |
T |
C |
7: 118,452,495 (GRCm39) |
K23E |
possibly damaging |
Het |
| Ksr2 |
T |
A |
5: 117,846,305 (GRCm39) |
V724E |
probably damaging |
Het |
| Lrrc17 |
G |
A |
5: 21,780,156 (GRCm39) |
G377S |
probably damaging |
Het |
| Macf1 |
GCCCCC |
GCCCCCC |
4: 123,244,784 (GRCm39) |
|
probably null |
Het |
| Morc2b |
T |
A |
17: 33,355,907 (GRCm39) |
T622S |
probably benign |
Het |
| Msantd2 |
G |
A |
9: 37,428,555 (GRCm39) |
G185R |
probably damaging |
Het |
| Mtmr2 |
A |
G |
9: 13,699,943 (GRCm39) |
Y38C |
probably damaging |
Het |
| Mycbpap |
A |
T |
11: 94,398,572 (GRCm39) |
|
probably null |
Het |
| Nadsyn1 |
T |
A |
7: 143,362,567 (GRCm39) |
R279W |
probably benign |
Het |
| Or1e25 |
T |
A |
11: 73,494,030 (GRCm39) |
V208E |
possibly damaging |
Het |
| Or2t48 |
A |
C |
11: 58,420,710 (GRCm39) |
V34G |
probably benign |
Het |
| Or56b35 |
T |
A |
7: 104,963,646 (GRCm39) |
F145Y |
probably damaging |
Het |
| Or7a38 |
G |
A |
10: 78,753,420 (GRCm39) |
V249I |
possibly damaging |
Het |
| Pcdhga4 |
A |
T |
18: 37,819,651 (GRCm39) |
Y400F |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,634,515 (GRCm39) |
|
silent |
Het |
| Prkar1b |
T |
C |
5: 139,113,544 (GRCm39) |
|
probably null |
Het |
| Ric8b |
T |
C |
10: 84,828,076 (GRCm39) |
Y467H |
probably damaging |
Het |
| Rin1 |
A |
G |
19: 5,102,652 (GRCm39) |
E387G |
probably damaging |
Het |
| Robo2 |
G |
A |
16: 73,695,853 (GRCm39) |
T1430I |
probably benign |
Het |
| Seh1l |
C |
T |
18: 67,908,069 (GRCm39) |
|
probably benign |
Het |
| Slc37a1 |
A |
T |
17: 31,559,236 (GRCm39) |
T439S |
probably damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,712,170 (GRCm39) |
F233S |
probably damaging |
Het |
| Smyd3 |
A |
T |
1: 179,238,024 (GRCm39) |
D114E |
probably benign |
Het |
| Snrnp70 |
GCGGTCCCGGTCCCGGTC |
GCGGTCCCGGTC |
7: 45,026,657 (GRCm39) |
|
probably benign |
Het |
| Speer4a1 |
T |
A |
5: 26,241,736 (GRCm39) |
N130I |
probably damaging |
Het |
| Spin1 |
A |
G |
13: 51,293,563 (GRCm39) |
Y91C |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,029,757 (GRCm39) |
V1030A |
probably benign |
Het |
| Trim30c |
T |
A |
7: 104,037,511 (GRCm39) |
M152L |
possibly damaging |
Het |
| Tsga10 |
T |
A |
1: 37,800,598 (GRCm39) |
D542V |
probably damaging |
Het |
| Unc93a2 |
A |
T |
17: 7,637,187 (GRCm39) |
C334S |
probably benign |
Het |
| Vmn1r175 |
A |
T |
7: 23,508,531 (GRCm39) |
I32N |
possibly damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,034 (GRCm39) |
D191E |
probably damaging |
Het |
| Zbtb5 |
C |
A |
4: 44,995,052 (GRCm39) |
V111F |
probably damaging |
Het |
| Zdbf2 |
T |
G |
1: 63,343,570 (GRCm39) |
C650G |
possibly damaging |
Het |
| Zfp282 |
T |
A |
6: 47,882,261 (GRCm39) |
N649K |
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 |
|
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'- ATTTGCAGACATACTCTGGGCC -3'
(R):5'- AGGCACATAAGGCTCACTATTG -3'
Sequencing Primer
(F):5'- AGACATACTCTGGGCCTCTGTC -3'
(R):5'- CGATTCACAGTTAGCTAAGAGTTCTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation