Incidental Mutation 'R1651:Wdr7'
| ID |
186430 |
| 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 |
039687-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R1651 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
63841756-64122847 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 63853847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 60
(L60*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072726]
|
| AlphaFold |
Q920I9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000072726
AA Change: L60*
|
| SMART Domains |
Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: L60*
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
97% (66/68) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
T |
A |
2: 150,690,341 (GRCm39) |
Q118L |
probably benign |
Het |
| Acss1 |
A |
T |
2: 150,480,357 (GRCm39) |
V238D |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,635,972 (GRCm39) |
I3512M |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,171,096 (GRCm39) |
Q1292R |
probably damaging |
Het |
| Bpnt2 |
A |
G |
4: 4,792,737 (GRCm39) |
F123L |
probably damaging |
Het |
| Caskin1 |
C |
T |
17: 24,721,186 (GRCm39) |
R509C |
possibly damaging |
Het |
| Cd47 |
T |
C |
16: 49,714,591 (GRCm39) |
V147A |
possibly damaging |
Het |
| Cdc20b |
T |
A |
13: 113,215,258 (GRCm39) |
Y275* |
probably null |
Het |
| Chd4 |
A |
G |
6: 125,100,547 (GRCm39) |
D1745G |
possibly damaging |
Het |
| Crmp1 |
T |
A |
5: 37,430,783 (GRCm39) |
S250T |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,802,214 (GRCm39) |
K1125E |
probably benign |
Het |
| Crybg2 |
C |
A |
4: 133,802,136 (GRCm39) |
P1099T |
possibly damaging |
Het |
| Csf1r |
T |
A |
18: 61,243,473 (GRCm39) |
I163N |
possibly damaging |
Het |
| Dicer1 |
T |
C |
12: 104,675,064 (GRCm39) |
T733A |
probably damaging |
Het |
| Edar |
A |
G |
10: 58,441,875 (GRCm39) |
V339A |
possibly damaging |
Het |
| Efcab3 |
A |
G |
11: 104,611,492 (GRCm39) |
R445G |
probably benign |
Het |
| Efcab6 |
A |
G |
15: 83,755,194 (GRCm39) |
I1374T |
possibly damaging |
Het |
| Erbb2 |
G |
A |
11: 98,324,283 (GRCm39) |
R757K |
probably damaging |
Het |
| Fam98a |
A |
G |
17: 75,854,710 (GRCm39) |
V33A |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,531,191 (GRCm39) |
|
probably null |
Het |
| Fcmr |
A |
G |
1: 130,805,988 (GRCm39) |
T315A |
probably benign |
Het |
| Gdf9 |
G |
A |
11: 53,324,576 (GRCm39) |
R115Q |
probably damaging |
Het |
| Gm22697+Rbm27 |
AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC |
AGGTCCCGGCCCAGGCCC |
18: 42,434,948 (GRCm39) |
|
probably benign |
Het |
| H2-M10.1 |
A |
G |
17: 36,636,648 (GRCm39) |
V52A |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,260,748 (GRCm39) |
C1582* |
probably null |
Het |
| Icam2 |
C |
T |
11: 106,268,782 (GRCm39) |
V229M |
probably damaging |
Het |
| Itga7 |
C |
T |
10: 128,784,693 (GRCm39) |
P735L |
probably benign |
Het |
| Kbtbd3 |
C |
A |
9: 4,330,589 (GRCm39) |
P321Q |
possibly damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,364,262 (GRCm39) |
T997S |
probably damaging |
Het |
| Kifc5b |
T |
C |
17: 27,144,504 (GRCm39) |
F541S |
probably damaging |
Het |
| Klhdc9 |
C |
A |
1: 171,188,016 (GRCm39) |
V72L |
probably benign |
Het |
| Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,511 (GRCm39) |
T308A |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,569,091 (GRCm39) |
E1210G |
unknown |
Het |
| Mocs3 |
A |
G |
2: 168,073,489 (GRCm39) |
Y312C |
probably damaging |
Het |
| Mrps7 |
G |
T |
11: 115,495,581 (GRCm39) |
E40* |
probably null |
Het |
| Msantd5f1 |
A |
T |
4: 73,605,621 (GRCm39) |
N344I |
possibly damaging |
Het |
| Msln |
T |
C |
17: 25,972,382 (GRCm39) |
H50R |
probably benign |
Het |
| Myb |
A |
G |
10: 21,002,097 (GRCm39) |
F748S |
probably damaging |
Het |
| Myo10 |
C |
A |
15: 25,742,455 (GRCm39) |
H590N |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,358,419 (GRCm39) |
E939G |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,239,278 (GRCm39) |
V107E |
probably damaging |
Het |
| Nrcam |
A |
T |
12: 44,623,462 (GRCm39) |
N1011I |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,057,078 (GRCm39) |
|
probably benign |
Het |
| Or1ak2 |
T |
C |
2: 36,827,335 (GRCm39) |
L68P |
probably damaging |
Het |
| Or4c118 |
A |
C |
2: 88,975,346 (GRCm39) |
V7G |
probably damaging |
Het |
| Pcgf6 |
A |
T |
19: 47,037,441 (GRCm39) |
C153S |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,817,434 (GRCm39) |
V81A |
probably benign |
Het |
| Ppp4r4 |
A |
G |
12: 103,550,331 (GRCm39) |
N36D |
probably benign |
Het |
| Prkch |
A |
G |
12: 73,805,775 (GRCm39) |
T517A |
possibly damaging |
Het |
| Rasal1 |
A |
T |
5: 120,790,910 (GRCm39) |
K33* |
probably null |
Het |
| Rp1l1 |
G |
A |
14: 64,268,442 (GRCm39) |
E1343K |
probably damaging |
Het |
| Serpinb6e |
T |
C |
13: 34,020,406 (GRCm39) |
D234G |
probably benign |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Smyd3 |
T |
G |
1: 178,871,441 (GRCm39) |
I313L |
probably benign |
Het |
| Tdrd9 |
C |
A |
12: 111,991,140 (GRCm39) |
D543E |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,715,453 (GRCm39) |
L114P |
probably damaging |
Het |
| Tmprss11c |
G |
A |
5: 86,387,283 (GRCm39) |
P212S |
probably damaging |
Het |
| Tmx2 |
A |
T |
2: 84,506,461 (GRCm39) |
M77K |
probably damaging |
Het |
| Traf3 |
T |
G |
12: 111,228,470 (GRCm39) |
D560E |
probably damaging |
Het |
| Trappc12 |
C |
T |
12: 28,741,776 (GRCm39) |
M711I |
probably benign |
Het |
| Trim2 |
A |
G |
3: 84,074,957 (GRCm39) |
|
probably null |
Het |
| Vmn2r18 |
A |
G |
5: 151,485,464 (GRCm39) |
S677P |
probably damaging |
Het |
| Wdr93 |
T |
C |
7: 79,399,830 (GRCm39) |
F140L |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,931,719 (GRCm39) |
T802A |
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 |
|
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 |
|
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'- TCCACAGTACAGTGCTTACCTGCC -3'
(R):5'- taccaccacactcagcCAAGATCC -3'
Sequencing Primer
(F):5'- gctgggcattcacagagac -3'
(R):5'- agcCAAGATCCACATTTTTTTAAGAC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation