Incidental Mutation 'R8678:Wdr7'
| ID |
661552 |
| 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 |
068533-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R8678 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
63841756-64122847 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 63910768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 720
(L720Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072726]
|
| AlphaFold |
Q920I9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072726
AA Change: L720Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: L720Q
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.7%
|
| Validation Efficiency |
99% (69/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
C |
T |
16: 20,184,685 (GRCm39) |
M991I |
probably benign |
Het |
| Acacb |
T |
A |
5: 114,340,032 (GRCm39) |
Y814* |
probably null |
Het |
| Alg2 |
A |
G |
4: 47,474,108 (GRCm39) |
F60S |
probably damaging |
Het |
| Aoc1l1 |
C |
T |
6: 48,953,158 (GRCm39) |
T361I |
possibly damaging |
Het |
| Arc |
A |
G |
15: 74,543,539 (GRCm39) |
L228P |
probably damaging |
Het |
| Bnip1 |
T |
A |
17: 27,008,923 (GRCm39) |
|
probably benign |
Het |
| Cacng4 |
A |
G |
11: 107,625,925 (GRCm39) |
L222P |
probably damaging |
Het |
| Calb2 |
A |
T |
8: 110,874,275 (GRCm39) |
V182E |
possibly damaging |
Het |
| Cfap44 |
A |
T |
16: 44,295,636 (GRCm39) |
I1645F |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,811,551 (GRCm39) |
D656G |
unknown |
Het |
| Csmd3 |
A |
G |
15: 47,499,849 (GRCm39) |
S2096P |
|
Het |
| Cyp2c70 |
A |
T |
19: 40,156,016 (GRCm39) |
I178N |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,004,759 (GRCm39) |
Q936* |
probably null |
Het |
| Dnaaf3 |
A |
T |
7: 4,533,814 (GRCm39) |
F94Y |
probably damaging |
Het |
| Eid2b |
C |
T |
7: 27,977,480 (GRCm39) |
T92I |
possibly damaging |
Het |
| Ercc8 |
T |
C |
13: 108,306,027 (GRCm39) |
|
probably null |
Het |
| Fank1 |
G |
A |
7: 133,463,957 (GRCm39) |
|
probably null |
Het |
| Fbxw19 |
C |
A |
9: 109,312,376 (GRCm39) |
E324* |
probably null |
Het |
| Fcnb |
A |
G |
2: 27,968,361 (GRCm39) |
F199L |
possibly damaging |
Het |
| Galnt16 |
A |
G |
12: 80,630,822 (GRCm39) |
D300G |
probably damaging |
Het |
| Gli1 |
T |
C |
10: 127,173,260 (GRCm39) |
S133G |
probably null |
Het |
| Ighv5-8 |
TATACAT |
TAT |
12: 113,618,583 (GRCm39) |
|
probably benign |
Het |
| Irak4 |
A |
G |
15: 94,464,666 (GRCm39) |
D412G |
probably benign |
Het |
| Klhl20 |
A |
T |
1: 160,936,997 (GRCm39) |
I126N |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,124,098 (GRCm39) |
E2841G |
|
Het |
| Lmtk3 |
T |
A |
7: 45,435,975 (GRCm39) |
C85* |
probably null |
Het |
| Madd |
T |
C |
2: 91,006,610 (GRCm39) |
Y328C |
probably damaging |
Het |
| Map1a |
G |
T |
2: 121,137,737 (GRCm39) |
R2851L |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,752,955 (GRCm39) |
D766G |
probably damaging |
Het |
| Mei4 |
T |
A |
9: 81,809,638 (GRCm39) |
F240L |
probably damaging |
Het |
| Mgat3 |
A |
T |
15: 80,096,472 (GRCm39) |
Y433F |
possibly damaging |
Het |
| Muc20 |
T |
A |
16: 32,617,789 (GRCm39) |
|
probably benign |
Het |
| Nat8f1 |
A |
G |
6: 85,887,738 (GRCm39) |
V74A |
probably benign |
Het |
| Nfe2l3 |
A |
G |
6: 51,435,153 (GRCm39) |
D571G |
possibly damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Nphs1 |
T |
C |
7: 30,163,284 (GRCm39) |
L480S |
probably damaging |
Het |
| Nr1d1 |
G |
C |
11: 98,660,073 (GRCm39) |
R484G |
probably damaging |
Het |
| Or2ag2 |
A |
G |
7: 106,485,280 (GRCm39) |
V248A |
probably damaging |
Het |
| Or4c122 |
T |
A |
2: 89,079,351 (GRCm39) |
Y217F |
probably damaging |
Het |
| Or8j3b |
C |
T |
2: 86,205,069 (GRCm39) |
R229H |
probably benign |
Het |
| Parp10 |
C |
A |
15: 76,117,599 (GRCm39) |
C929F |
probably damaging |
Het |
| Pcdhb21 |
A |
G |
18: 37,647,939 (GRCm39) |
E356G |
probably damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,623,468 (GRCm39) |
R600* |
probably null |
Het |
| Ppp1r13l |
C |
A |
7: 19,109,697 (GRCm39) |
T706K |
probably benign |
Het |
| Ppp1r16b |
G |
A |
2: 158,593,098 (GRCm39) |
D226N |
probably damaging |
Het |
| Ppp1r16b |
G |
A |
2: 158,598,942 (GRCm39) |
R334Q |
probably damaging |
Het |
| Ppp1r7 |
A |
G |
1: 93,280,364 (GRCm39) |
Q188R |
probably benign |
Het |
| Pramel26 |
C |
A |
4: 143,538,576 (GRCm39) |
A132S |
probably benign |
Het |
| Prkdc |
G |
T |
16: 15,526,796 (GRCm39) |
|
probably null |
Het |
| Prss33 |
T |
C |
17: 24,053,723 (GRCm39) |
D118G |
probably benign |
Het |
| Rab3gap2 |
T |
G |
1: 184,983,281 (GRCm39) |
I473M |
probably damaging |
Het |
| Rbm44 |
A |
G |
1: 91,080,103 (GRCm39) |
E97G |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,963,998 (GRCm39) |
M1775T |
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,776,489 (GRCm39) |
M2216L |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,574,041 (GRCm39) |
|
probably benign |
Het |
| Slc31a2 |
G |
A |
4: 62,210,896 (GRCm39) |
V12M |
probably benign |
Het |
| Slc35b1 |
T |
C |
11: 95,278,646 (GRCm39) |
Y177H |
probably damaging |
Het |
| Slfn9 |
T |
A |
11: 82,872,370 (GRCm39) |
M789L |
probably benign |
Het |
| Srf |
A |
G |
17: 46,861,825 (GRCm39) |
|
probably null |
Het |
| Tank |
A |
G |
2: 61,457,287 (GRCm39) |
E81G |
probably damaging |
Het |
| Tia1 |
T |
A |
6: 86,402,685 (GRCm39) |
M241K |
probably benign |
Het |
| Tiam1 |
G |
T |
16: 89,681,709 (GRCm39) |
S423* |
probably null |
Het |
| Tubg1 |
T |
G |
11: 101,015,264 (GRCm39) |
S237A |
probably benign |
Het |
| Ubash3b |
G |
A |
9: 40,942,785 (GRCm39) |
P358S |
probably benign |
Het |
| Vmn2r3 |
T |
C |
3: 64,166,896 (GRCm39) |
E745G |
possibly damaging |
Het |
| Vmn2r4 |
T |
A |
3: 64,314,391 (GRCm39) |
I197F |
probably benign |
Het |
| Vps37d |
C |
A |
5: 135,105,386 (GRCm39) |
R79L |
probably damaging |
Het |
| Xkr5 |
T |
C |
8: 18,984,048 (GRCm39) |
N498S |
probably benign |
Het |
| Zc2hc1c |
A |
T |
12: 85,337,084 (GRCm39) |
E247V |
probably benign |
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 |
|
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 |
|
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'- TGTTAATGACCCAGAAGCCC -3'
(R):5'- TGCGGTATCCATAGTAAGGTTG -3'
Sequencing Primer
(F):5'- GTTAATGACCCAGAAGCCCTAAAAAG -3'
(R):5'- CCGGTACTCAGGGTCACTATC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation