Incidental Mutation 'R0633:Wdr7'
| ID |
58113 |
| 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 |
038822-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.894)
|
| Stock # |
R0633 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
63841756-64122847 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63998371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1106
(V1106A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072726]
|
| AlphaFold |
Q920I9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072726
AA Change: V1106A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: V1106A
| 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 |
0.0585 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.7%
|
| 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) 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
A |
T |
9: 30,854,807 (GRCm39) |
R18S |
probably damaging |
Het |
| Adgb |
G |
A |
10: 10,267,473 (GRCm39) |
A923V |
probably benign |
Het |
| Aldh1a3 |
A |
G |
7: 66,049,970 (GRCm39) |
V416A |
probably damaging |
Het |
| Alox5 |
C |
T |
6: 116,397,345 (GRCm39) |
G280R |
probably damaging |
Het |
| Anapc5 |
A |
T |
5: 122,938,695 (GRCm39) |
Y360N |
probably damaging |
Het |
| Apbb1 |
C |
T |
7: 105,208,170 (GRCm39) |
V685I |
probably damaging |
Het |
| Apc2 |
C |
A |
10: 80,143,289 (GRCm39) |
A463E |
probably damaging |
Het |
| Arhgap21 |
C |
T |
2: 20,860,198 (GRCm39) |
W1170* |
probably null |
Het |
| Atat1 |
G |
A |
17: 36,212,315 (GRCm39) |
R305C |
probably damaging |
Het |
| Brd8dc |
A |
G |
18: 34,719,319 (GRCm39) |
V167A |
possibly damaging |
Het |
| Cars2 |
T |
C |
8: 11,600,511 (GRCm39) |
D56G |
probably benign |
Het |
| Ccdc202 |
T |
G |
14: 96,119,379 (GRCm39) |
N45K |
probably damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,311,989 (GRCm39) |
I108V |
probably damaging |
Het |
| Cftr |
T |
A |
6: 18,305,979 (GRCm39) |
I1255K |
probably damaging |
Het |
| Ckap5 |
T |
C |
2: 91,381,088 (GRCm39) |
L148P |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,656,209 (GRCm39) |
|
probably null |
Het |
| Cpe |
G |
A |
8: 65,062,237 (GRCm39) |
P273L |
probably damaging |
Het |
| Cpsf7 |
A |
G |
19: 10,509,146 (GRCm39) |
D19G |
probably benign |
Het |
| Ddx25 |
C |
A |
9: 35,457,268 (GRCm39) |
R349L |
probably damaging |
Het |
| Depdc7 |
T |
C |
2: 104,553,226 (GRCm39) |
D446G |
probably benign |
Het |
| Det1 |
T |
A |
7: 78,493,683 (GRCm39) |
N107I |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,755,713 (GRCm39) |
D170E |
probably benign |
Het |
| Dvl1 |
C |
T |
4: 155,942,752 (GRCm39) |
L673F |
probably damaging |
Het |
| Gucy1b1 |
A |
T |
3: 81,952,767 (GRCm39) |
I222K |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,065,467 (GRCm39) |
T71A |
possibly damaging |
Het |
| Ikzf1 |
A |
G |
11: 11,719,223 (GRCm39) |
E310G |
probably damaging |
Het |
| Impg1 |
T |
C |
9: 80,301,437 (GRCm39) |
E163G |
possibly damaging |
Het |
| Itpr2 |
G |
T |
6: 146,275,954 (GRCm39) |
H426Q |
probably damaging |
Het |
| Itpripl2 |
C |
T |
7: 118,089,479 (GRCm39) |
G360D |
probably benign |
Het |
| Kif14 |
C |
T |
1: 136,455,043 (GRCm39) |
R1572C |
probably damaging |
Het |
| L3mbtl3 |
A |
T |
10: 26,178,583 (GRCm39) |
H568Q |
unknown |
Het |
| Lgi2 |
A |
G |
5: 52,711,802 (GRCm39) |
Y173H |
probably damaging |
Het |
| Lpar5 |
A |
C |
6: 125,058,954 (GRCm39) |
Y225S |
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,745,894 (GRCm39) |
H675R |
probably damaging |
Het |
| Lrp2 |
C |
A |
2: 69,278,464 (GRCm39) |
G3963V |
probably damaging |
Het |
| Man1a2 |
G |
T |
3: 100,591,891 (GRCm39) |
D13E |
possibly damaging |
Het |
| Map1a |
T |
C |
2: 121,138,495 (GRCm39) |
V2753A |
probably damaging |
Het |
| Mitf |
C |
A |
6: 97,980,865 (GRCm39) |
N97K |
probably damaging |
Het |
| Msh2 |
A |
G |
17: 87,980,238 (GRCm39) |
|
probably null |
Het |
| Msr1 |
T |
C |
8: 40,073,041 (GRCm39) |
E170G |
probably damaging |
Het |
| Myrip |
C |
A |
9: 120,217,302 (GRCm39) |
R79S |
probably damaging |
Het |
| Nek10 |
G |
A |
14: 14,857,782 (GRCm38) |
|
probably null |
Het |
| Neto1 |
C |
T |
18: 86,422,854 (GRCm39) |
R104* |
probably null |
Het |
| Nom1 |
A |
C |
5: 29,656,098 (GRCm39) |
K821T |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 91,011,609 (GRCm39) |
V340A |
probably damaging |
Het |
| Nxpe4 |
A |
T |
9: 48,307,897 (GRCm39) |
I334F |
probably benign |
Het |
| Or1e23 |
A |
G |
11: 73,407,753 (GRCm39) |
S91P |
probably benign |
Het |
| Or2ag1 |
T |
C |
7: 106,313,184 (GRCm39) |
K235E |
probably benign |
Het |
| Or4a74 |
T |
C |
2: 89,439,718 (GRCm39) |
M243V |
probably benign |
Het |
| Or5al7 |
T |
A |
2: 85,992,435 (GRCm39) |
N286I |
probably damaging |
Het |
| Or5b124 |
T |
C |
19: 13,610,700 (GRCm39) |
V75A |
probably damaging |
Het |
| Or8k27 |
C |
T |
2: 86,275,473 (GRCm39) |
M284I |
probably benign |
Het |
| Padi4 |
A |
G |
4: 140,484,896 (GRCm39) |
S322P |
probably damaging |
Het |
| Peli3 |
A |
G |
19: 4,991,810 (GRCm39) |
Y44H |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,743,767 (GRCm39) |
S163P |
probably damaging |
Het |
| Prom2 |
T |
C |
2: 127,381,445 (GRCm39) |
D227G |
probably benign |
Het |
| Ptgfr |
C |
T |
3: 151,507,400 (GRCm39) |
R321H |
probably benign |
Het |
| Resf1 |
A |
T |
6: 149,227,199 (GRCm39) |
I82L |
probably benign |
Het |
| Rgs3 |
G |
A |
4: 62,544,143 (GRCm39) |
R136H |
probably damaging |
Het |
| Rgsl1 |
T |
G |
1: 153,719,853 (GRCm39) |
N3T |
possibly damaging |
Het |
| Rif1 |
T |
C |
2: 52,002,575 (GRCm39) |
S2010P |
probably benign |
Het |
| Rngtt |
T |
C |
4: 33,368,690 (GRCm39) |
F408L |
probably damaging |
Het |
| Rtn3 |
T |
G |
19: 7,434,958 (GRCm39) |
T326P |
probably benign |
Het |
| Slc18b1 |
A |
C |
10: 23,681,936 (GRCm39) |
M167L |
probably benign |
Het |
| Slc22a26 |
A |
G |
19: 7,765,575 (GRCm39) |
|
probably null |
Het |
| Slitrk6 |
T |
C |
14: 110,989,317 (GRCm39) |
D130G |
probably damaging |
Het |
| Snap47 |
A |
G |
11: 59,319,439 (GRCm39) |
V233A |
probably benign |
Het |
| Sumf1 |
A |
C |
6: 108,121,632 (GRCm39) |
Y158D |
probably damaging |
Het |
| Tbc1d15 |
A |
T |
10: 115,056,215 (GRCm39) |
H252Q |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 130,116,263 (GRCm39) |
S1339P |
possibly damaging |
Het |
| Tmem45a2 |
T |
C |
16: 56,869,777 (GRCm39) |
I56V |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,066,577 (GRCm39) |
S359P |
probably benign |
Het |
| Ttc27 |
T |
C |
17: 75,036,972 (GRCm39) |
I215T |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,554,539 (GRCm39) |
V30759I |
possibly damaging |
Het |
| Vdac3 |
T |
C |
8: 23,070,404 (GRCm39) |
N168S |
probably damaging |
Het |
| Wrap73 |
T |
A |
4: 154,226,948 (GRCm39) |
F16Y |
probably damaging |
Het |
| Zfat |
C |
A |
15: 68,052,652 (GRCm39) |
D381Y |
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 |
|
|
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 |
|
R6083:Wdr7
|
UTSW |
18 |
63,861,540 (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'- GGTGTTCCATCTGTGTGAATCAGTGAC -3'
(R):5'- ACCCAGAGTGGTCCTGTTTCCTAAC -3'
Sequencing Primer
(F):5'- GTGAATCAGTGACATATTCTTGTCCC -3'
(R):5'- CCATCAAGGTGATCTGAGGACTTAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation