Incidental Mutation 'R6962:Wdr7'
ID |
541854 |
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 |
045072-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.859)
|
Stock # |
R6962 (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 63998359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 1102
(C1102Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072509
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072726]
|
AlphaFold |
Q920I9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072726
AA Change: C1102Y
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000072509 Gene: ENSMUSG00000040560 AA Change: C1102Y
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: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
Validation Efficiency |
96% (74/77) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,949,150 (GRCm39) |
K1016E |
probably benign |
Het |
Abca3 |
T |
C |
17: 24,583,700 (GRCm39) |
F30L |
probably benign |
Het |
Arhgap17 |
C |
T |
7: 122,895,655 (GRCm39) |
G490R |
probably damaging |
Het |
Arsg |
T |
A |
11: 109,412,495 (GRCm39) |
L140H |
probably damaging |
Het |
Bmp2k |
T |
A |
5: 97,179,097 (GRCm39) |
C130* |
probably null |
Het |
C4b |
T |
C |
17: 34,951,140 (GRCm39) |
|
probably null |
Het |
Cdk5r2 |
A |
G |
1: 74,894,975 (GRCm39) |
Y240C |
probably damaging |
Het |
Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
Col27a1 |
A |
G |
4: 63,237,738 (GRCm39) |
|
probably benign |
Het |
Cubn |
G |
A |
2: 13,352,840 (GRCm39) |
S1966F |
probably benign |
Het |
Dnajc13 |
T |
C |
9: 104,058,208 (GRCm39) |
Y1509C |
probably benign |
Het |
Dpp4 |
A |
G |
2: 62,203,174 (GRCm39) |
V265A |
probably benign |
Het |
Dync2i1 |
A |
T |
12: 116,175,398 (GRCm39) |
D926E |
probably damaging |
Het |
Fbxl8 |
C |
A |
8: 105,995,338 (GRCm39) |
N283K |
possibly damaging |
Het |
Fev |
T |
A |
1: 74,921,299 (GRCm39) |
Q122L |
probably benign |
Het |
Fgd4 |
T |
A |
16: 16,301,951 (GRCm39) |
|
probably null |
Het |
Fnip2 |
A |
C |
3: 79,396,610 (GRCm39) |
L439R |
probably damaging |
Het |
Git1 |
C |
A |
11: 77,395,469 (GRCm39) |
Q389K |
probably benign |
Het |
Gm10509 |
C |
G |
17: 21,909,833 (GRCm39) |
I53M |
possibly damaging |
Het |
Gm5773 |
A |
T |
3: 93,681,234 (GRCm39) |
H302L |
possibly damaging |
Het |
Greb1l |
G |
T |
18: 10,547,327 (GRCm39) |
R1515L |
probably damaging |
Het |
Gsc2 |
T |
C |
16: 17,732,902 (GRCm39) |
Y2C |
possibly damaging |
Het |
H60b |
A |
G |
10: 22,162,053 (GRCm39) |
N93D |
probably benign |
Het |
Hgf |
G |
A |
5: 16,820,752 (GRCm39) |
R633Q |
probably benign |
Het |
Hmgb1 |
C |
T |
5: 148,985,633 (GRCm39) |
|
probably benign |
Het |
Hmmr |
T |
C |
11: 40,598,242 (GRCm39) |
T657A |
probably damaging |
Het |
Htt |
G |
T |
5: 35,057,115 (GRCm39) |
|
probably null |
Het |
Ift80 |
G |
A |
3: 68,901,878 (GRCm39) |
|
probably benign |
Het |
Kcnq5 |
G |
T |
1: 21,576,017 (GRCm39) |
T229K |
probably damaging |
Het |
Kcp |
C |
T |
6: 29,482,839 (GRCm39) |
R1410Q |
probably benign |
Het |
Klhl30 |
T |
G |
1: 91,285,137 (GRCm39) |
V331G |
probably damaging |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Lrrc37 |
G |
A |
11: 103,505,126 (GRCm39) |
P105S |
possibly damaging |
Het |
Macf1 |
C |
T |
4: 123,334,515 (GRCm39) |
R2849Q |
probably benign |
Het |
Mex3b |
T |
G |
7: 82,518,473 (GRCm39) |
S263A |
probably benign |
Het |
Mrgpre |
A |
G |
7: 143,334,799 (GRCm39) |
S235P |
probably damaging |
Het |
Myh14 |
A |
T |
7: 44,307,363 (GRCm39) |
V226D |
probably benign |
Het |
Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
Nudt8 |
G |
T |
19: 4,051,831 (GRCm39) |
L147F |
probably damaging |
Het |
Or2aj5 |
T |
A |
16: 19,424,672 (GRCm39) |
I249L |
probably benign |
Het |
Or52e8 |
T |
A |
7: 104,624,580 (GRCm39) |
N208I |
probably benign |
Het |
Or5w17 |
A |
G |
2: 87,584,071 (GRCm39) |
Y89H |
probably benign |
Het |
Or6z7 |
A |
T |
7: 6,484,008 (GRCm39) |
I49N |
probably benign |
Het |
P4htm |
C |
A |
9: 108,456,394 (GRCm39) |
A469S |
possibly damaging |
Het |
Pld4 |
A |
T |
12: 112,733,288 (GRCm39) |
H288L |
probably benign |
Het |
Pnpla1 |
T |
A |
17: 29,097,455 (GRCm39) |
I207N |
probably damaging |
Het |
Ppcs |
T |
G |
4: 119,279,375 (GRCm39) |
N59T |
probably damaging |
Het |
Ppm1k |
A |
T |
6: 57,492,645 (GRCm39) |
C214S |
probably damaging |
Het |
Psg25 |
C |
T |
7: 18,263,679 (GRCm39) |
G48E |
probably damaging |
Het |
Rassf7 |
A |
G |
7: 140,797,503 (GRCm39) |
T239A |
possibly damaging |
Het |
Rgs3 |
G |
T |
4: 62,618,952 (GRCm39) |
|
probably benign |
Het |
Scaper |
T |
C |
9: 55,767,055 (GRCm39) |
T465A |
probably benign |
Het |
Slc4a7 |
G |
T |
14: 14,746,021 (GRCm38) |
G405C |
probably damaging |
Het |
Smpd3 |
T |
C |
8: 106,991,851 (GRCm39) |
D234G |
probably benign |
Het |
Spata31f1e |
T |
C |
4: 42,793,323 (GRCm39) |
T270A |
probably damaging |
Het |
Ssc4d |
A |
G |
5: 135,991,775 (GRCm39) |
|
probably null |
Het |
Sugct |
G |
T |
13: 17,032,606 (GRCm39) |
|
probably null |
Het |
Taok2 |
C |
A |
7: 126,466,088 (GRCm39) |
|
probably null |
Het |
Tbx20 |
A |
G |
9: 24,681,036 (GRCm39) |
V152A |
probably damaging |
Het |
Tbx4 |
A |
G |
11: 85,781,085 (GRCm39) |
E66G |
probably benign |
Het |
Thbs2 |
T |
C |
17: 14,902,082 (GRCm39) |
E382G |
probably benign |
Het |
Ticrr |
T |
G |
7: 79,315,645 (GRCm39) |
S300A |
possibly damaging |
Het |
Trim46 |
A |
G |
3: 89,146,303 (GRCm39) |
L396P |
probably damaging |
Het |
Trim56 |
A |
G |
5: 137,141,501 (GRCm39) |
F672L |
probably damaging |
Het |
Ttf2 |
A |
G |
3: 100,858,453 (GRCm39) |
L712S |
probably damaging |
Het |
Unc93b1 |
T |
G |
19: 3,986,303 (GRCm39) |
D112E |
possibly damaging |
Het |
Usp17lc |
T |
C |
7: 103,068,118 (GRCm39) |
L471P |
probably benign |
Het |
Vmn2r85 |
A |
G |
10: 130,261,452 (GRCm39) |
I295T |
probably damaging |
Het |
Vmn2r96 |
T |
G |
17: 18,818,283 (GRCm39) |
I812S |
probably damaging |
Het |
Wnt9b |
G |
T |
11: 103,624,515 (GRCm39) |
Q92K |
probably null |
Het |
Zbtb26 |
A |
T |
2: 37,326,106 (GRCm39) |
M310K |
possibly damaging |
Het |
Zdhhc1 |
T |
C |
8: 106,210,279 (GRCm39) |
H46R |
probably damaging |
Het |
Zfp628 |
G |
T |
7: 4,922,549 (GRCm39) |
R257L |
probably benign |
Het |
Zfp747l1 |
A |
T |
7: 126,983,487 (GRCm39) |
D538E |
possibly damaging |
Het |
Zmat4 |
A |
G |
8: 24,392,181 (GRCm39) |
T46A |
probably benign |
Het |
Zmiz2 |
T |
A |
11: 6,352,455 (GRCm39) |
W637R |
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 |
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 |
|
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'- AGGTGTTCCATCTGTGTGAATC -3'
(R):5'- ACTTACACGTGTGTCTGGC -3'
Sequencing Primer
(F):5'- TCCATCTGTGTGAATCAGTGAC -3'
(R):5'- TGGTCAAGCCAAAGCCTTCAG -3'
|
Posted On |
2018-11-28 |