Incidental Mutation 'R7851:Wdr7'
| ID |
606965 |
| 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 |
045904-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R7851 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
63841756-64122847 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63853398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 33
(T33S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072726]
|
| AlphaFold |
Q920I9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072726
AA Change: T33S
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: T33S
| 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 |
0.1731 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (62/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
T |
A |
11: 101,300,838 (GRCm39) |
|
probably null |
Het |
| Abcc3 |
A |
T |
11: 94,250,486 (GRCm39) |
L905* |
probably null |
Het |
| Adamts9 |
T |
G |
6: 92,885,687 (GRCm39) |
D401A |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,799,444 (GRCm39) |
K918E |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,468,034 (GRCm39) |
N1722S |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,498,409 (GRCm39) |
I481V |
possibly damaging |
Het |
| Asxl3 |
T |
C |
18: 22,650,279 (GRCm39) |
I756T |
possibly damaging |
Het |
| Atp6v0b |
A |
G |
4: 117,743,062 (GRCm39) |
F49S |
probably damaging |
Het |
| Baz2b |
C |
A |
2: 59,767,060 (GRCm39) |
E107D |
probably damaging |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Cd2ap |
A |
G |
17: 43,135,363 (GRCm39) |
|
probably null |
Het |
| Cnn3 |
T |
A |
3: 121,250,992 (GRCm39) |
Y304N |
possibly damaging |
Het |
| Cnot2 |
G |
A |
10: 116,373,337 (GRCm39) |
S22L |
possibly damaging |
Het |
| Coq6 |
A |
T |
12: 84,418,929 (GRCm39) |
H311L |
possibly damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,173,137 (GRCm39) |
N350S |
probably benign |
Het |
| Dhrs9 |
T |
A |
2: 69,231,600 (GRCm39) |
N253K |
probably benign |
Het |
| Dok7 |
T |
A |
5: 35,214,280 (GRCm39) |
M1K |
probably null |
Het |
| Eogt |
T |
A |
6: 97,097,162 (GRCm39) |
E313D |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,748,951 (GRCm39) |
S430P |
probably damaging |
Het |
| Gfod2 |
T |
A |
8: 106,454,762 (GRCm39) |
E39D |
probably benign |
Het |
| Gfral |
T |
C |
9: 76,112,737 (GRCm39) |
N65D |
probably benign |
Het |
| Gsdmc4 |
A |
T |
15: 63,774,595 (GRCm39) |
L62* |
probably null |
Het |
| Gyg1 |
T |
G |
3: 20,176,911 (GRCm39) |
M360L |
probably benign |
Het |
| Hsp90ab1 |
A |
T |
17: 45,881,378 (GRCm39) |
S255T |
probably benign |
Het |
| Hyal6 |
T |
A |
6: 24,734,497 (GRCm39) |
D143E |
probably benign |
Het |
| Ipp |
C |
T |
4: 116,372,672 (GRCm39) |
Q234* |
probably null |
Het |
| Ism1 |
A |
T |
2: 139,599,185 (GRCm39) |
D386V |
probably damaging |
Het |
| Jrkl |
T |
C |
9: 13,244,354 (GRCm39) |
T436A |
probably benign |
Het |
| Mup3 |
A |
C |
4: 62,003,494 (GRCm39) |
I125S |
possibly damaging |
Het |
| Myh6 |
T |
A |
14: 55,190,508 (GRCm39) |
E1003V |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,043,076 (GRCm39) |
I6785F |
probably benign |
Het |
| Odad4 |
C |
T |
11: 100,436,655 (GRCm39) |
T10I |
probably damaging |
Het |
| Or11g24 |
A |
G |
14: 50,662,827 (GRCm39) |
T284A |
probably damaging |
Het |
| Or11h4b |
A |
G |
14: 50,918,915 (GRCm39) |
Y59H |
probably damaging |
Het |
| Or1j4 |
T |
A |
2: 36,740,428 (GRCm39) |
Y123* |
probably null |
Het |
| Or2w25 |
T |
C |
11: 59,504,789 (GRCm39) |
V333A |
probably benign |
Het |
| Or6c5c |
G |
T |
10: 129,299,429 (GRCm39) |
V295L |
probably benign |
Het |
| Pamr1 |
A |
T |
2: 102,416,945 (GRCm39) |
T86S |
probably benign |
Het |
| Pced1a |
A |
T |
2: 130,264,236 (GRCm39) |
M168K |
probably damaging |
Het |
| Pigs |
T |
C |
11: 78,227,613 (GRCm39) |
L259P |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,605,855 (GRCm39) |
S1350G |
probably damaging |
Het |
| Prickle1 |
G |
A |
15: 93,398,440 (GRCm39) |
T796I |
possibly damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,879,843 (GRCm39) |
I138M |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,732,482 (GRCm39) |
E958G |
probably benign |
Het |
| Rcn3 |
A |
T |
7: 44,736,236 (GRCm39) |
D157E |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,412,540 (GRCm39) |
S534P |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,508,862 (GRCm39) |
T3371A |
probably benign |
Het |
| Scn10a |
A |
T |
9: 119,446,828 (GRCm39) |
V1399D |
probably damaging |
Het |
| Sec61a1 |
T |
C |
6: 88,489,147 (GRCm39) |
T185A |
probably benign |
Het |
| Sgsm3 |
G |
A |
15: 80,894,954 (GRCm39) |
V607M |
probably damaging |
Het |
| Smurf2 |
T |
C |
11: 106,721,752 (GRCm39) |
Y581C |
probably damaging |
Het |
| Snx8 |
C |
A |
5: 140,343,914 (GRCm39) |
V101L |
probably damaging |
Het |
| Sp100 |
A |
T |
1: 85,634,647 (GRCm39) |
K180M |
probably benign |
Het |
| Spire2 |
T |
A |
8: 124,083,438 (GRCm39) |
|
probably null |
Het |
| St6galnac2 |
A |
G |
11: 116,576,764 (GRCm39) |
S86P |
probably benign |
Het |
| Sybu |
G |
A |
15: 44,609,852 (GRCm39) |
Q139* |
probably null |
Het |
| Tas2r114 |
T |
A |
6: 131,666,888 (GRCm39) |
I47F |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,695,747 (GRCm39) |
D19G |
probably benign |
Het |
| Terb2 |
T |
C |
2: 122,016,794 (GRCm39) |
F9L |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,307 (GRCm39) |
T757A |
possibly damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,255 (GRCm39) |
|
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,471,014 (GRCm39) |
F1001S |
probably damaging |
Het |
| Vmn2r62 |
G |
A |
7: 42,438,539 (GRCm39) |
T99I |
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 |
|
|
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'- GCCCAATGTTTTAAGCCCCTG -3'
(R):5'- CTCAGACTGAAAGAGAGAATGCCC -3'
Sequencing Primer
(F):5'- TTAAGCCCCTGACCTTGGG -3'
(R):5'- GAGAATGCCCCGAGACTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation