Incidental Mutation 'R9326:Wdr7'
| ID |
706552 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R9326 (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 63872260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 398
(S398N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072726]
|
| AlphaFold |
Q920I9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072726
AA Change: S398N
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: S398N
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (66/66) |
| 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 |
|---|
| 2310057J18Rik |
A |
T |
10: 28,849,882 (GRCm39) |
Y230* |
probably null |
Het |
| Adamts14 |
A |
G |
10: 61,036,238 (GRCm39) |
S1015P |
probably benign |
Het |
| Adamts8 |
A |
G |
9: 30,854,886 (GRCm39) |
T252A |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,150,804 (GRCm39) |
S149T |
possibly damaging |
Het |
| Afp |
A |
G |
5: 90,652,205 (GRCm39) |
K399E |
probably damaging |
Het |
| Atp8b1 |
T |
A |
18: 64,706,344 (GRCm39) |
S222C |
probably damaging |
Het |
| Ccdc88c |
C |
A |
12: 100,995,109 (GRCm39) |
|
probably benign |
Het |
| Cfap276 |
C |
T |
3: 108,451,931 (GRCm39) |
R159W |
probably damaging |
Het |
| Cip2a |
G |
A |
16: 48,834,235 (GRCm39) |
|
probably null |
Het |
| Cluh |
A |
G |
11: 74,554,902 (GRCm39) |
K780R |
probably benign |
Het |
| Cope |
C |
A |
8: 70,755,516 (GRCm39) |
F20L |
possibly damaging |
Het |
| Cps1 |
G |
T |
1: 67,248,795 (GRCm39) |
R1174L |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 16,049,803 (GRCm39) |
T2271I |
probably benign |
Het |
| Ctbp2 |
A |
G |
7: 132,616,359 (GRCm39) |
I192T |
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,680,018 (GRCm39) |
T106A |
probably benign |
Het |
| Ddb2 |
A |
T |
2: 91,047,559 (GRCm39) |
M240K |
probably benign |
Het |
| Ddx20 |
A |
T |
3: 105,591,735 (GRCm39) |
V145D |
probably damaging |
Het |
| Ddx31 |
A |
G |
2: 28,749,008 (GRCm39) |
D268G |
probably damaging |
Het |
| Drc7 |
A |
G |
8: 95,801,886 (GRCm39) |
I716V |
probably benign |
Het |
| Epb41l4a |
G |
T |
18: 33,961,261 (GRCm39) |
Y424* |
probably null |
Het |
| Exog |
A |
G |
9: 119,291,554 (GRCm39) |
N277S |
probably damaging |
Het |
| Fzd7 |
T |
C |
1: 59,522,837 (GRCm39) |
L240P |
possibly damaging |
Het |
| Gpr87 |
T |
C |
3: 59,086,609 (GRCm39) |
T299A |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 54,079,369 (GRCm39) |
Y95H |
probably damaging |
Het |
| Idh1 |
T |
C |
1: 65,205,416 (GRCm39) |
Y183C |
probably damaging |
Het |
| Ighv14-4 |
T |
A |
12: 114,140,469 (GRCm39) |
I7F |
possibly damaging |
Het |
| Il1rap |
A |
T |
16: 26,495,641 (GRCm39) |
I83F |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,931,745 (GRCm39) |
S609P |
probably benign |
Het |
| Klhl33 |
T |
C |
14: 51,134,615 (GRCm39) |
E9G |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 26,906,193 (GRCm39) |
F2421L |
probably benign |
Het |
| Lmod2 |
A |
T |
6: 24,597,999 (GRCm39) |
I40F |
probably damaging |
Het |
| Lsm5 |
A |
T |
6: 56,681,616 (GRCm39) |
L13Q |
possibly damaging |
Het |
| Man2c1 |
G |
T |
9: 57,042,904 (GRCm39) |
C258F |
probably damaging |
Het |
| Mgst1 |
T |
C |
6: 138,120,023 (GRCm39) |
S28P |
probably benign |
Het |
| Msh3 |
A |
T |
13: 92,400,307 (GRCm39) |
V744E |
probably benign |
Het |
| Mtx2 |
C |
T |
2: 74,656,287 (GRCm39) |
|
probably benign |
Het |
| N4bp3 |
C |
T |
11: 51,535,313 (GRCm39) |
R292H |
probably benign |
Het |
| Neto2 |
A |
T |
8: 86,369,063 (GRCm39) |
W354R |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Nutm1 |
A |
T |
2: 112,078,692 (GRCm39) |
S1074R |
possibly damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or10ag56 |
T |
A |
2: 87,139,730 (GRCm39) |
M219K |
probably benign |
Het |
| Or5aq1 |
T |
C |
2: 86,966,647 (GRCm39) |
H6R |
probably benign |
Het |
| Or7g29 |
A |
T |
9: 19,286,346 (GRCm39) |
M277K |
probably damaging |
Het |
| Or8s8 |
T |
C |
15: 98,354,935 (GRCm39) |
V248A |
probably damaging |
Het |
| Pi4kb |
T |
A |
3: 94,900,506 (GRCm39) |
|
probably null |
Het |
| Rgsl1 |
C |
T |
1: 153,679,768 (GRCm39) |
D103N |
probably benign |
Het |
| Rrbp1 |
G |
A |
2: 143,806,744 (GRCm39) |
T958M |
probably damaging |
Het |
| S100a13 |
G |
T |
3: 90,423,170 (GRCm39) |
D54Y |
unknown |
Het |
| Setd2 |
T |
C |
9: 110,378,671 (GRCm39) |
C829R |
probably benign |
Het |
| Snd1 |
A |
T |
6: 28,795,842 (GRCm39) |
R562* |
probably null |
Het |
| Snx27 |
A |
T |
3: 94,409,369 (GRCm39) |
Y526N |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,791,010 (GRCm39) |
L483P |
probably damaging |
Het |
| Sybu |
A |
G |
15: 44,537,019 (GRCm39) |
S436P |
probably damaging |
Het |
| Thy1 |
A |
G |
9: 43,957,983 (GRCm39) |
D37G |
probably damaging |
Het |
| Tmed8 |
A |
T |
12: 87,221,395 (GRCm39) |
I126N |
probably damaging |
Het |
| Tmem161b |
T |
A |
13: 84,440,602 (GRCm39) |
L340* |
probably null |
Het |
| Tpr |
C |
T |
1: 150,301,407 (GRCm39) |
A1331V |
possibly damaging |
Het |
| Tprg1 |
G |
A |
16: 25,136,107 (GRCm39) |
E33K |
probably benign |
Het |
| Vps26b |
T |
C |
9: 26,930,627 (GRCm39) |
N123D |
probably damaging |
Het |
| Zbtb48 |
T |
C |
4: 152,111,509 (GRCm39) |
D2G |
probably damaging |
Het |
| Zfp975 |
G |
A |
7: 42,311,837 (GRCm39) |
R259* |
probably null |
Het |
| Zfp986 |
T |
A |
4: 145,626,451 (GRCm39) |
H370Q |
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 |
|
|
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 |
|
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'- GCCGATGAAGGTAATAGTGAATCTG -3'
(R):5'- ACGGTGCACATAGGTAGACC -3'
Sequencing Primer
(F):5'- GGTAATAGTGAATCTGCACATTGAC -3'
(R):5'- CGGTGCACATAGGTAGACCTTCAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation