Incidental Mutation 'R6168:Wdr7'
ID |
490277 |
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 |
044430-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.859)
|
Stock # |
R6168 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
63841756-64122847 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 63911048 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 813
(N813K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072509
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072726]
|
AlphaFold |
Q920I9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072726
AA Change: N813K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000072509 Gene: ENSMUSG00000040560 AA Change: N813K
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
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) 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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
C |
T |
2: 68,571,827 (GRCm39) |
L568F |
possibly damaging |
Het |
Adam3 |
A |
T |
8: 25,171,630 (GRCm39) |
|
probably null |
Het |
Adamts13 |
G |
T |
2: 26,894,898 (GRCm39) |
A1069S |
probably benign |
Het |
Adarb1 |
A |
G |
10: 77,158,153 (GRCm39) |
L98P |
probably damaging |
Het |
Ahnak2 |
T |
C |
12: 112,747,750 (GRCm39) |
E1035G |
probably benign |
Het |
Alox12b |
T |
A |
11: 69,060,460 (GRCm39) |
I672N |
probably damaging |
Het |
Ark2n |
A |
G |
18: 77,761,653 (GRCm39) |
S220P |
probably damaging |
Het |
Ash1l |
C |
T |
3: 88,960,080 (GRCm39) |
R2271* |
probably null |
Het |
Atf7ip |
A |
G |
6: 136,536,817 (GRCm39) |
T17A |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,752,986 (GRCm39) |
|
probably null |
Het |
Crcp |
A |
G |
5: 130,066,737 (GRCm39) |
N41S |
probably damaging |
Het |
Defb15 |
A |
C |
8: 22,420,069 (GRCm39) |
N19K |
possibly damaging |
Het |
Dnah7a |
T |
A |
1: 53,450,727 (GRCm39) |
D3901V |
probably damaging |
Het |
Dnah7b |
A |
C |
1: 46,329,863 (GRCm39) |
T3236P |
probably damaging |
Het |
Dnmbp |
A |
G |
19: 43,838,679 (GRCm39) |
S608P |
probably damaging |
Het |
Efcab12 |
T |
C |
6: 115,791,577 (GRCm39) |
K532E |
probably damaging |
Het |
Fbrsl1 |
C |
T |
5: 110,543,922 (GRCm39) |
V54M |
probably damaging |
Het |
Gm14496 |
T |
A |
2: 181,642,750 (GRCm39) |
V807E |
probably damaging |
Het |
Hoxa2 |
A |
G |
6: 52,140,461 (GRCm39) |
L175P |
probably damaging |
Het |
Igkv4-58 |
A |
C |
6: 69,477,281 (GRCm39) |
D105E |
probably damaging |
Het |
Igkv8-27 |
A |
T |
6: 70,148,880 (GRCm39) |
S91R |
probably benign |
Het |
Itgax |
T |
C |
7: 127,732,269 (GRCm39) |
V175A |
probably damaging |
Het |
Kcnc2 |
A |
G |
10: 112,291,661 (GRCm39) |
D283G |
probably benign |
Het |
Lepr |
G |
A |
4: 101,592,789 (GRCm39) |
G135R |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 13,051,823 (GRCm39) |
S378G |
probably benign |
Het |
Mta1 |
T |
A |
12: 113,086,739 (GRCm39) |
D145E |
probably damaging |
Het |
Nkd1 |
T |
A |
8: 89,311,859 (GRCm39) |
N44K |
probably damaging |
Het |
Notch2 |
A |
G |
3: 98,052,533 (GRCm39) |
K2010E |
probably damaging |
Het |
Nsd3 |
G |
A |
8: 26,181,188 (GRCm39) |
G930S |
probably null |
Het |
Or2w1 |
T |
G |
13: 21,317,399 (GRCm39) |
I151M |
possibly damaging |
Het |
Or6c203 |
A |
G |
10: 129,010,035 (GRCm39) |
F285S |
probably damaging |
Het |
Or8g35 |
A |
G |
9: 39,381,953 (GRCm39) |
L23P |
probably damaging |
Het |
Or8k3 |
T |
G |
2: 86,058,938 (GRCm39) |
I126L |
probably damaging |
Het |
Or8u8 |
T |
C |
2: 86,012,309 (GRCm39) |
I49V |
probably damaging |
Het |
Pde4c |
G |
A |
8: 71,202,688 (GRCm39) |
E625K |
probably benign |
Het |
Pdgfb |
T |
C |
15: 79,884,587 (GRCm39) |
T151A |
probably benign |
Het |
Pik3r5 |
T |
C |
11: 68,383,501 (GRCm39) |
V440A |
probably benign |
Het |
Piwil2 |
T |
C |
14: 70,632,800 (GRCm39) |
T591A |
probably benign |
Het |
Ppm1l |
A |
G |
3: 69,456,740 (GRCm39) |
D219G |
probably damaging |
Het |
Psmc6 |
T |
C |
14: 45,581,140 (GRCm39) |
I312T |
probably damaging |
Het |
Rasl10a |
T |
C |
11: 5,008,442 (GRCm39) |
V46A |
possibly damaging |
Het |
Rhov |
T |
C |
2: 119,101,453 (GRCm39) |
Y51C |
probably damaging |
Het |
S100a16 |
C |
T |
3: 90,449,879 (GRCm39) |
Q121* |
probably null |
Het |
Slc5a12 |
T |
C |
2: 110,447,089 (GRCm39) |
V199A |
probably damaging |
Het |
Slc6a7 |
A |
T |
18: 61,134,734 (GRCm39) |
M447K |
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,175,144 (GRCm39) |
V764A |
possibly damaging |
Het |
Vmn1r197 |
T |
C |
13: 22,512,678 (GRCm39) |
Y200H |
possibly damaging |
Het |
Vmn2r102 |
G |
A |
17: 19,914,402 (GRCm39) |
A656T |
possibly damaging |
Het |
Vmn2r49 |
G |
T |
7: 9,718,713 (GRCm39) |
D450E |
probably benign |
Het |
Yeats2 |
T |
C |
16: 19,998,308 (GRCm39) |
S288P |
probably benign |
Het |
Zfta |
T |
C |
19: 7,400,305 (GRCm39) |
V257A |
probably benign |
Het |
Zswim6 |
G |
A |
13: 107,924,299 (GRCm39) |
|
noncoding transcript |
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 |
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'- GCGGTTCTTTTCCAGCAAGTG -3'
(R):5'- ACACTGTGTAGGTTCCCTTGC -3'
Sequencing Primer
(F):5'- ACATAAAGGAACACCTTCTGGATG -3'
(R):5'- GTAGGTTCCCTTGCCTACG -3'
|
Posted On |
2017-10-10 |