Incidental Mutation 'R6083:Wdr7'
| ID |
482342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr7
|
| Ensembl Gene |
ENSMUSG00000040560 |
| Gene Name |
WD repeat domain 7 |
| Synonyms |
TGF-beta resistance associated gene, TRAG |
| MMRRC Submission |
044242-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.894)
|
| Stock # |
R6083 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
63841756-64122847 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 63861540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 184
(G184D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072726]
|
| AlphaFold |
Q920I9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072726
AA Change: G184D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: G184D
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
5 |
47 |
1.2e-2 |
SMART |
|
WD40
|
53 |
95 |
3.71e-1 |
SMART |
|
Blast:WD40
|
145 |
190 |
1e-18 |
BLAST |
|
WD40
|
208 |
242 |
1.77e2 |
SMART |
|
WD40
|
453 |
498 |
3.81e-5 |
SMART |
|
WD40
|
501 |
546 |
4.26e1 |
SMART |
|
WD40
|
549 |
588 |
1.63e-4 |
SMART |
|
low complexity region
|
760 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
956 |
970 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1040 |
N/A |
INTRINSIC |
|
low complexity region
|
1181 |
1192 |
N/A |
INTRINSIC |
|
Blast:WD40
|
1341 |
1380 |
5e-20 |
BLAST |
|
WD40
|
1382 |
1422 |
2.73e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.7128 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (76/79) |
| 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) that 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. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
A |
11: 58,769,677 (GRCm39) |
P73Q |
possibly damaging |
Het |
| Aak1 |
A |
T |
6: 86,940,978 (GRCm39) |
I591F |
unknown |
Het |
| Ace |
C |
A |
11: 105,876,093 (GRCm39) |
Y816* |
probably null |
Het |
| Ahnak2 |
A |
G |
12: 112,746,715 (GRCm39) |
V1205A |
probably benign |
Het |
| Ahnak2 |
T |
G |
12: 112,746,589 (GRCm39) |
Q1076P |
probably benign |
Het |
| Ap2a1 |
G |
A |
7: 44,557,175 (GRCm39) |
R263W |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,786,397 (GRCm39) |
T257A |
probably benign |
Het |
| Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
| Ccdc17 |
A |
T |
4: 116,454,123 (GRCm39) |
Q47L |
possibly damaging |
Het |
| Cep170 |
C |
T |
1: 176,602,191 (GRCm39) |
R305H |
probably damaging |
Het |
| Cyb5r4 |
C |
T |
9: 86,939,221 (GRCm39) |
P335S |
probably damaging |
Het |
| Cyp2c54 |
A |
G |
19: 40,062,206 (GRCm39) |
L17P |
probably benign |
Het |
| Cyp2c69 |
A |
T |
19: 39,837,900 (GRCm39) |
V394E |
probably damaging |
Het |
| Dedd2 |
G |
A |
7: 24,910,715 (GRCm39) |
P154S |
probably benign |
Het |
| Defb36 |
A |
T |
2: 152,446,408 (GRCm39) |
M1L |
unknown |
Het |
| Dnaja1 |
A |
G |
4: 40,731,713 (GRCm39) |
D263G |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,510,148 (GRCm39) |
N1560S |
probably damaging |
Het |
| Efnb2 |
T |
C |
8: 8,672,328 (GRCm39) |
|
probably null |
Het |
| Eif3e |
A |
G |
15: 43,129,540 (GRCm39) |
I196T |
probably damaging |
Het |
| Ercc4 |
T |
A |
16: 12,927,903 (GRCm39) |
C24* |
probably null |
Het |
| Fmn1 |
A |
G |
2: 113,194,648 (GRCm39) |
E116G |
unknown |
Het |
| Gnas |
A |
G |
2: 174,139,655 (GRCm39) |
M1V |
probably null |
Het |
| Grin2a |
C |
A |
16: 9,397,404 (GRCm39) |
M894I |
probably benign |
Het |
| Herc2 |
G |
T |
7: 55,878,253 (GRCm39) |
S4566I |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,631,044 (GRCm39) |
P918L |
probably damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,631,045 (GRCm39) |
P918T |
probably damaging |
Het |
| Hsd3b2 |
T |
A |
3: 98,619,372 (GRCm39) |
Y191F |
possibly damaging |
Het |
| Ifit1bl2 |
A |
C |
19: 34,597,217 (GRCm39) |
F133C |
possibly damaging |
Het |
| Itih2 |
T |
C |
2: 10,113,705 (GRCm39) |
|
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,649,899 (GRCm39) |
L191P |
probably benign |
Het |
| Kdr |
T |
C |
5: 76,105,026 (GRCm39) |
K1068R |
probably damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,119,574 (GRCm39) |
L1345P |
probably damaging |
Het |
| Man2b2 |
T |
A |
5: 36,966,385 (GRCm39) |
D936V |
probably damaging |
Het |
| Mapk1ip1 |
G |
A |
7: 138,438,317 (GRCm39) |
R38* |
probably null |
Het |
| Med13l |
T |
C |
5: 118,859,551 (GRCm39) |
V246A |
possibly damaging |
Het |
| Mlec |
T |
A |
5: 115,286,108 (GRCm39) |
T248S |
probably benign |
Het |
| Mslnl |
T |
A |
17: 25,956,876 (GRCm39) |
V54D |
possibly damaging |
Het |
| Muc16 |
G |
A |
9: 18,568,508 (GRCm39) |
T1337I |
unknown |
Het |
| Nek7 |
C |
T |
1: 138,443,392 (GRCm39) |
S187N |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,367,214 (GRCm39) |
V538A |
probably benign |
Het |
| Nktr |
T |
C |
9: 121,579,202 (GRCm39) |
|
probably benign |
Het |
| Npy6r |
A |
G |
18: 44,409,559 (GRCm39) |
K327E |
probably damaging |
Het |
| Or2ag1 |
A |
G |
7: 106,472,789 (GRCm39) |
I221T |
probably damaging |
Het |
| Or3a1c |
A |
G |
11: 74,046,396 (GRCm39) |
M139V |
possibly damaging |
Het |
| Or4a72 |
T |
C |
2: 89,406,016 (GRCm39) |
D18G |
probably benign |
Het |
| Or4c123 |
T |
A |
2: 89,127,368 (GRCm39) |
D82V |
probably damaging |
Het |
| Or5b109 |
A |
T |
19: 13,211,889 (GRCm39) |
I92F |
probably benign |
Het |
| Pcdhga4 |
A |
T |
18: 37,820,478 (GRCm39) |
N676Y |
probably damaging |
Het |
| Pde2a |
T |
C |
7: 101,152,086 (GRCm39) |
I331T |
possibly damaging |
Het |
| Pip5k1b |
A |
T |
19: 24,281,399 (GRCm39) |
Y486* |
probably null |
Het |
| Plch2 |
A |
G |
4: 155,085,275 (GRCm39) |
M272T |
probably benign |
Het |
| Rbm12 |
G |
A |
2: 155,939,646 (GRCm39) |
|
probably benign |
Het |
| Rgs19 |
T |
C |
2: 181,331,300 (GRCm39) |
E111G |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,160,066 (GRCm39) |
N145S |
probably damaging |
Het |
| Rnf4 |
T |
A |
5: 34,508,565 (GRCm39) |
|
probably null |
Het |
| Rpa1 |
T |
C |
11: 75,205,737 (GRCm39) |
T207A |
probably damaging |
Het |
| Rufy4 |
A |
C |
1: 74,168,556 (GRCm39) |
Q113P |
probably damaging |
Het |
| Sh3pxd2b |
T |
G |
11: 32,372,985 (GRCm39) |
S717R |
probably benign |
Het |
| Sin3a |
A |
T |
9: 57,014,824 (GRCm39) |
I682F |
probably damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,195,212 (GRCm39) |
V842E |
possibly damaging |
Het |
| Slc5a4a |
A |
G |
10: 75,983,431 (GRCm39) |
I23V |
unknown |
Het |
| Slitrk5 |
A |
G |
14: 111,919,157 (GRCm39) |
N927S |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,326,354 (GRCm39) |
K117R |
possibly damaging |
Het |
| Sod2 |
G |
A |
17: 13,226,918 (GRCm39) |
|
probably benign |
Het |
| Stxbp1 |
A |
G |
2: 32,686,030 (GRCm39) |
I567T |
possibly damaging |
Het |
| Tbkbp1 |
C |
A |
11: 97,038,206 (GRCm39) |
L209F |
probably damaging |
Het |
| Tll1 |
G |
T |
8: 64,491,620 (GRCm39) |
|
probably null |
Het |
| Tmem38b |
T |
C |
4: 53,840,765 (GRCm39) |
L60S |
probably damaging |
Het |
| Trib1 |
G |
A |
15: 59,526,324 (GRCm39) |
R298H |
probably damaging |
Het |
| Trim30b |
A |
G |
7: 104,015,349 (GRCm39) |
V13A |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,856,001 (GRCm39) |
T425I |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,720,317 (GRCm39) |
|
probably benign |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
A |
1: 187,999,220 (GRCm39) |
S177T |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,906,281 (GRCm39) |
S651R |
probably benign |
Het |
| Vmn1r125 |
T |
C |
7: 21,006,644 (GRCm39) |
S181P |
probably damaging |
Het |
| Vmn1r198 |
T |
A |
13: 22,538,928 (GRCm39) |
V138D |
possibly damaging |
Het |
| Vmn1r56 |
A |
G |
7: 5,199,317 (GRCm39) |
L100P |
probably damaging |
Het |
| Vmn2r32 |
T |
A |
7: 7,467,209 (GRCm39) |
D773V |
probably benign |
Het |
| Vmn2r53 |
A |
C |
7: 12,315,808 (GRCm39) |
H670Q |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,055,711 (GRCm39) |
I809N |
probably damaging |
Het |
| Wnk1 |
C |
T |
6: 120,014,562 (GRCm39) |
G11D |
probably damaging |
Het |
| Zfp110 |
A |
C |
7: 12,578,602 (GRCm39) |
E171A |
possibly damaging |
Het |
| Zkscan6 |
T |
C |
11: 65,706,757 (GRCm39) |
V134A |
probably damaging |
Het |
|
| Other mutations in Wdr7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00513:Wdr7
|
APN |
18 |
63,853,846 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL00708:Wdr7
|
APN |
18 |
63,911,104 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL00813:Wdr7
|
APN |
18 |
63,868,675 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL00840:Wdr7
|
APN |
18 |
64,060,398 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL00904:Wdr7
|
APN |
18 |
63,929,302 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL00930:Wdr7
|
APN |
18 |
63,873,315 (GRCm39) |
nonsense |
probably null |
|
|
IGL01481:Wdr7
|
APN |
18 |
63,872,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02121:Wdr7
|
APN |
18 |
63,910,616 (GRCm39) |
nonsense |
probably null |
|
|
IGL02346:Wdr7
|
APN |
18 |
63,998,407 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02454:Wdr7
|
APN |
18 |
63,929,299 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02538:Wdr7
|
APN |
18 |
63,929,306 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02870:Wdr7
|
APN |
18 |
63,924,914 (GRCm39) |
missense |
probably benign |
|
|
IGL03054:Wdr7
|
APN |
18 |
63,958,192 (GRCm39) |
splice site |
probably benign |
|
|
IGL03189:Wdr7
|
APN |
18 |
63,893,672 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0014:Wdr7
|
UTSW |
18 |
64,037,172 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0022:Wdr7
|
UTSW |
18 |
63,910,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Wdr7
|
UTSW |
18 |
64,037,172 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0432:Wdr7
|
UTSW |
18 |
63,929,320 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0496:Wdr7
|
UTSW |
18 |
63,924,914 (GRCm39) |
missense |
probably benign |
|
|
R0633:Wdr7
|
UTSW |
18 |
63,998,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0931:Wdr7
|
UTSW |
18 |
63,998,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1585:Wdr7
|
UTSW |
18 |
64,057,989 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1651:Wdr7
|
UTSW |
18 |
63,853,847 (GRCm39) |
nonsense |
probably null |
|
|
R1804:Wdr7
|
UTSW |
18 |
63,998,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Wdr7
|
UTSW |
18 |
63,861,575 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1985:Wdr7
|
UTSW |
18 |
63,893,654 (GRCm39) |
frame shift |
probably null |
|
|
R2106:Wdr7
|
UTSW |
18 |
63,911,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Wdr7
|
UTSW |
18 |
63,910,678 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2207:Wdr7
|
UTSW |
18 |
63,910,678 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2245:Wdr7
|
UTSW |
18 |
64,057,980 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2407:Wdr7
|
UTSW |
18 |
63,893,794 (GRCm39) |
missense |
probably benign |
|
|
R3804:Wdr7
|
UTSW |
18 |
63,853,907 (GRCm39) |
missense |
probably benign |
|
|
R3880:Wdr7
|
UTSW |
18 |
63,857,226 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4410:Wdr7
|
UTSW |
18 |
63,911,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4441:Wdr7
|
UTSW |
18 |
63,888,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4485:Wdr7
|
UTSW |
18 |
63,910,621 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4606:Wdr7
|
UTSW |
18 |
63,913,016 (GRCm39) |
nonsense |
probably null |
|
|
R4607:Wdr7
|
UTSW |
18 |
63,910,651 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4608:Wdr7
|
UTSW |
18 |
63,910,651 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4711:Wdr7
|
UTSW |
18 |
63,861,536 (GRCm39) |
missense |
probably benign |
|
|
R4852:Wdr7
|
UTSW |
18 |
63,911,020 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5197:Wdr7
|
UTSW |
18 |
63,871,937 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5213:Wdr7
|
UTSW |
18 |
63,888,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5280:Wdr7
|
UTSW |
18 |
64,120,383 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5378:Wdr7
|
UTSW |
18 |
63,958,310 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6076:Wdr7
|
UTSW |
18 |
63,872,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6168:Wdr7
|
UTSW |
18 |
63,911,048 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6234:Wdr7
|
UTSW |
18 |
63,857,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6295:Wdr7
|
UTSW |
18 |
63,888,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6548:Wdr7
|
UTSW |
18 |
63,911,322 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6566:Wdr7
|
UTSW |
18 |
63,888,126 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6696:Wdr7
|
UTSW |
18 |
63,872,401 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6937:Wdr7
|
UTSW |
18 |
63,924,938 (GRCm39) |
missense |
probably benign |
|
|
R6962:Wdr7
|
UTSW |
18 |
63,998,359 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7162:Wdr7
|
UTSW |
18 |
63,857,210 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7376:Wdr7
|
UTSW |
18 |
63,910,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7423:Wdr7
|
UTSW |
18 |
63,910,451 (GRCm39) |
splice site |
probably null |
|
|
R7781:Wdr7
|
UTSW |
18 |
63,910,860 (GRCm39) |
nonsense |
probably null |
|
|
R7851:Wdr7
|
UTSW |
18 |
63,853,398 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7962:Wdr7
|
UTSW |
18 |
64,037,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8310:Wdr7
|
UTSW |
18 |
63,868,756 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8325:Wdr7
|
UTSW |
18 |
63,911,535 (GRCm39) |
splice site |
probably null |
|
|
R8520:Wdr7
|
UTSW |
18 |
64,120,231 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8678:Wdr7
|
UTSW |
18 |
63,910,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8847:Wdr7
|
UTSW |
18 |
63,872,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9326:Wdr7
|
UTSW |
18 |
63,872,260 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9443:Wdr7
|
UTSW |
18 |
63,853,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9487:Wdr7
|
UTSW |
18 |
63,910,939 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9652:Wdr7
|
UTSW |
18 |
63,860,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9657:Wdr7
|
UTSW |
18 |
64,057,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9710:Wdr7
|
UTSW |
18 |
63,927,317 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9784:Wdr7
|
UTSW |
18 |
64,037,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9790:Wdr7
|
UTSW |
18 |
63,911,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9791:Wdr7
|
UTSW |
18 |
63,911,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTTCACTGAAAACCATGAGG -3'
(R):5'- AGGCTCTTTTCCAATATGTGCAAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation