Incidental Mutation 'R1985:Wdr7'
| ID |
220559 |
| 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 |
039997-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.894)
|
| Stock # |
R1985 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
63841756-64122847 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GTT to GT
at 63893654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072726]
|
| AlphaFold |
Q920I9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000072726
|
| SMART Domains |
Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
94% (76/81) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
C |
A |
8: 71,916,157 (GRCm39) |
|
probably benign |
Het |
| Adam5 |
A |
T |
8: 25,236,755 (GRCm39) |
D648E |
probably benign |
Het |
| Akr1d1 |
A |
G |
6: 37,535,336 (GRCm39) |
D240G |
probably damaging |
Het |
| Ankmy2 |
A |
G |
12: 36,207,363 (GRCm39) |
H3R |
possibly damaging |
Het |
| Anpep |
A |
C |
7: 79,490,605 (GRCm39) |
|
probably null |
Het |
| Apobr |
A |
G |
7: 126,186,903 (GRCm39) |
T20A |
possibly damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,604,899 (GRCm39) |
Y427N |
probably benign |
Het |
| Camkk2 |
A |
C |
5: 122,902,190 (GRCm39) |
S40A |
possibly damaging |
Het |
| Camp |
T |
C |
9: 109,677,497 (GRCm39) |
N112S |
probably benign |
Het |
| Cbx7 |
A |
G |
15: 79,802,591 (GRCm39) |
S229P |
probably damaging |
Het |
| Cnot2 |
T |
C |
10: 116,363,781 (GRCm39) |
N41S |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,421,605 (GRCm39) |
F272L |
possibly damaging |
Het |
| Dct |
T |
C |
14: 118,273,954 (GRCm39) |
K318E |
probably benign |
Het |
| Dhrs11 |
A |
C |
11: 84,719,633 (GRCm39) |
L31V |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,543,093 (GRCm39) |
D2359G |
probably benign |
Het |
| Dnajc7 |
A |
G |
11: 100,481,718 (GRCm39) |
S305P |
probably benign |
Het |
| Dscc1 |
CTGAATGAAT |
CTGAAT |
15: 54,943,572 (GRCm39) |
|
probably benign |
Het |
| Flnc |
A |
G |
6: 29,444,415 (GRCm39) |
|
probably benign |
Het |
| Garin3 |
T |
C |
11: 46,298,693 (GRCm39) |
*666Q |
probably null |
Het |
| Gm7535 |
A |
G |
17: 18,131,800 (GRCm39) |
|
probably benign |
Het |
| Grtp1 |
A |
G |
8: 13,229,376 (GRCm39) |
F313L |
probably damaging |
Het |
| Haus6 |
T |
C |
4: 86,511,846 (GRCm39) |
Y425C |
possibly damaging |
Het |
| Hdac1 |
T |
A |
4: 129,422,753 (GRCm39) |
N83Y |
possibly damaging |
Het |
| Hdlbp |
A |
G |
1: 93,358,840 (GRCm39) |
I237T |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,442 (GRCm39) |
D481E |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,264,780 (GRCm39) |
I737V |
probably benign |
Het |
| Il23r |
T |
A |
6: 67,467,652 (GRCm39) |
|
probably null |
Het |
| Il24 |
G |
A |
1: 130,810,268 (GRCm39) |
T196I |
probably benign |
Het |
| Ints3 |
C |
T |
3: 90,307,610 (GRCm39) |
|
probably null |
Het |
| Kcna6 |
T |
C |
6: 126,715,473 (GRCm39) |
E472G |
probably benign |
Het |
| Kcnj16 |
C |
T |
11: 110,916,409 (GRCm39) |
T357M |
probably benign |
Het |
| Kdm4b |
T |
A |
17: 56,708,302 (GRCm39) |
V957E |
probably damaging |
Het |
| Kif21b |
G |
A |
1: 136,075,284 (GRCm39) |
D166N |
probably damaging |
Het |
| Klhl11 |
G |
T |
11: 100,354,070 (GRCm39) |
Q584K |
probably benign |
Het |
| Krt9 |
A |
T |
11: 100,080,817 (GRCm39) |
M345K |
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,331,150 (GRCm39) |
|
probably benign |
Het |
| Lilrb4b |
A |
T |
10: 51,357,831 (GRCm39) |
Q80L |
possibly damaging |
Het |
| Lrrc69 |
T |
C |
4: 14,708,669 (GRCm39) |
E225G |
possibly damaging |
Het |
| Ly9 |
A |
G |
1: 171,427,341 (GRCm39) |
S405P |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,071,740 (GRCm39) |
D519G |
possibly damaging |
Het |
| Nav3 |
G |
A |
10: 109,606,045 (GRCm39) |
|
probably benign |
Het |
| Nfkb1 |
G |
A |
3: 135,321,110 (GRCm39) |
T215I |
possibly damaging |
Het |
| Ninj2 |
A |
T |
6: 120,175,600 (GRCm39) |
|
probably benign |
Het |
| Obsl1 |
A |
G |
1: 75,482,244 (GRCm39) |
C209R |
probably damaging |
Het |
| Or13a25 |
G |
A |
7: 140,247,734 (GRCm39) |
C171Y |
probably damaging |
Het |
| Or2d4 |
A |
G |
7: 106,544,133 (GRCm39) |
I25T |
probably benign |
Het |
| Or2j6 |
A |
T |
7: 139,980,713 (GRCm39) |
M82K |
possibly damaging |
Het |
| Or2t44 |
A |
C |
11: 58,677,210 (GRCm39) |
D50A |
probably damaging |
Het |
| Or2y1g |
T |
C |
11: 49,171,110 (GRCm39) |
I45T |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,252,879 (GRCm39) |
Y6F |
probably benign |
Het |
| Otud4 |
G |
C |
8: 80,366,641 (GRCm39) |
R36P |
probably damaging |
Het |
| Pcnt |
C |
T |
10: 76,216,171 (GRCm39) |
R2239H |
possibly damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,097,331 (GRCm39) |
M491L |
probably benign |
Het |
| Pitrm1 |
A |
T |
13: 6,608,220 (GRCm39) |
D316V |
probably damaging |
Het |
| Plod3 |
A |
G |
5: 137,019,707 (GRCm39) |
|
probably null |
Het |
| Plppr3 |
A |
T |
10: 79,703,294 (GRCm39) |
Y63* |
probably null |
Het |
| Pramel52-ps |
A |
T |
5: 94,531,931 (GRCm39) |
I272L |
probably benign |
Het |
| Prickle2 |
T |
C |
6: 92,388,433 (GRCm39) |
D323G |
probably damaging |
Het |
| Psmd11 |
A |
T |
11: 80,336,089 (GRCm39) |
I114F |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rbp3 |
T |
G |
14: 33,678,418 (GRCm39) |
S789A |
probably benign |
Het |
| Rfxap |
C |
A |
3: 54,714,747 (GRCm39) |
R117L |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,208,710 (GRCm39) |
M171K |
probably damaging |
Het |
| Scin |
A |
G |
12: 40,183,907 (GRCm39) |
|
probably null |
Het |
| Scn11a |
A |
G |
9: 119,583,744 (GRCm39) |
S1624P |
probably benign |
Het |
| Slc41a3 |
G |
A |
6: 90,619,210 (GRCm39) |
V330M |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,370,469 (GRCm39) |
I237V |
probably benign |
Het |
| Spag6 |
A |
G |
2: 18,736,930 (GRCm39) |
I218V |
probably benign |
Het |
| Stam2 |
T |
C |
2: 52,599,638 (GRCm39) |
T257A |
possibly damaging |
Het |
| Tbc1d24 |
G |
A |
17: 24,426,938 (GRCm39) |
R318* |
probably null |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Trpm3 |
T |
A |
19: 22,903,446 (GRCm39) |
Y1069N |
possibly damaging |
Het |
| Tuba8 |
A |
G |
6: 121,197,479 (GRCm39) |
D47G |
probably benign |
Het |
| Tulp3 |
A |
T |
6: 128,303,769 (GRCm39) |
S277T |
probably benign |
Het |
| Uqcc6 |
T |
A |
10: 82,456,051 (GRCm39) |
T37S |
possibly damaging |
Het |
| Ybx2 |
A |
G |
11: 69,827,294 (GRCm39) |
|
probably null |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp788 |
T |
A |
7: 41,299,905 (GRCm39) |
I795N |
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 |
|
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'- TACTGGGAAGGTTTGTGAAGAC -3'
(R):5'- CAAAAGGTTCGTTGCAAGGG -3'
Sequencing Primer
(F):5'- ATTGTGGGATCTACATGGAAGATTAG -3'
(R):5'- CAAGGGTTTGCAGCTTATGG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation