Incidental Mutation 'R9657:Wdr7'
| ID |
727420 |
| 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: 0.894)
|
| Stock # |
R9657 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
63841756-64122847 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64057918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1249
(D1249G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072726]
|
| AlphaFold |
Q920I9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072726
AA Change: D1249G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: D1249G
| 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 |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,243,379 (GRCm39) |
D1747E |
probably benign |
Het |
| Acad11 |
T |
A |
9: 103,953,035 (GRCm39) |
I88N |
possibly damaging |
Het |
| Atp2b4 |
T |
C |
1: 133,656,478 (GRCm39) |
E724G |
probably damaging |
Het |
| Bcl2a1b |
T |
C |
9: 89,081,599 (GRCm39) |
S63P |
probably damaging |
Het |
| Blzf1 |
T |
C |
1: 164,134,023 (GRCm39) |
S9G |
probably benign |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,104 (GRCm39) |
T283A |
probably benign |
Het |
| Cdh22 |
T |
C |
2: 164,965,715 (GRCm39) |
D488G |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,351,003 (GRCm39) |
E688G |
possibly damaging |
Het |
| Cldn10 |
A |
C |
14: 119,025,781 (GRCm39) |
E71D |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cyp3a16 |
T |
C |
5: 145,386,979 (GRCm39) |
D337G |
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,410,089 (GRCm39) |
D3654V |
probably damaging |
Het |
| Dock1 |
T |
C |
7: 134,339,429 (GRCm39) |
S100P |
possibly damaging |
Het |
| Hdgfl2 |
T |
C |
17: 56,405,978 (GRCm39) |
V488A |
unknown |
Het |
| Itih2 |
T |
C |
2: 10,107,686 (GRCm39) |
T627A |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,441,956 (GRCm39) |
S648G |
probably benign |
Het |
| Klhl33 |
T |
C |
14: 51,134,117 (GRCm39) |
D144G |
probably benign |
Het |
| Lca5l |
G |
A |
16: 95,974,953 (GRCm39) |
Q324* |
probably null |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,921,806 (GRCm39) |
T542A |
probably benign |
Het |
| Moxd1 |
T |
A |
10: 24,128,485 (GRCm39) |
V179E |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,455,963 (GRCm39) |
Y116C |
probably damaging |
Het |
| Myoc |
C |
T |
1: 162,467,229 (GRCm39) |
R133* |
probably null |
Het |
| Nol3 |
A |
T |
8: 106,005,641 (GRCm39) |
I12F |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,352,377 (GRCm39) |
V605A |
probably benign |
Het |
| Or5w13 |
T |
C |
2: 87,524,121 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or9m2 |
A |
C |
2: 87,821,310 (GRCm39) |
N285T |
probably damaging |
Het |
| Pag1 |
G |
T |
3: 9,769,791 (GRCm39) |
S52R |
probably damaging |
Het |
| Pbxip1 |
A |
G |
3: 89,355,056 (GRCm39) |
D525G |
probably benign |
Het |
| Pla2g4f |
A |
G |
2: 120,135,138 (GRCm39) |
F437L |
probably benign |
Het |
| Podn |
A |
C |
4: 107,884,231 (GRCm39) |
I86S |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,290,820 (GRCm39) |
T676A |
probably benign |
Het |
| Ppp1r1c |
A |
G |
2: 79,638,718 (GRCm39) |
E104G |
probably benign |
Het |
| Prss53 |
T |
C |
7: 127,486,238 (GRCm39) |
T436A |
probably damaging |
Het |
| Psme4 |
A |
T |
11: 30,788,980 (GRCm39) |
E1127D |
probably benign |
Het |
| Ptpn18 |
C |
A |
1: 34,512,473 (GRCm39) |
A426E |
possibly damaging |
Het |
| Ptprz1 |
T |
G |
6: 23,042,377 (GRCm39) |
C2044G |
possibly damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,581,372 (GRCm39) |
V850L |
probably damaging |
Het |
| Ranbp9 |
A |
G |
13: 43,557,155 (GRCm39) |
I28T |
unknown |
Het |
| Rapgef2 |
A |
T |
3: 78,999,191 (GRCm39) |
V527E |
probably damaging |
Het |
| Rere |
C |
A |
4: 150,699,390 (GRCm39) |
P825T |
unknown |
Het |
| Rundc3a |
A |
G |
11: 102,291,578 (GRCm39) |
T349A |
probably benign |
Het |
| Scn2a |
T |
C |
2: 65,566,032 (GRCm39) |
F1352S |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 55,944,295 (GRCm39) |
C206* |
probably null |
Het |
| Serac1 |
C |
T |
17: 6,119,658 (GRCm39) |
V91I |
probably benign |
Het |
| Serpina1f |
G |
A |
12: 103,656,050 (GRCm39) |
Q393* |
probably null |
Het |
| Slc8a1 |
T |
C |
17: 81,955,244 (GRCm39) |
E598G |
probably damaging |
Het |
| Slmap |
A |
T |
14: 26,151,013 (GRCm39) |
H518Q |
probably benign |
Het |
| Spg11 |
G |
A |
2: 121,910,781 (GRCm39) |
R1199C |
probably damaging |
Het |
| Tada1 |
T |
C |
1: 166,214,312 (GRCm39) |
S104P |
possibly damaging |
Het |
| Tbck |
A |
G |
3: 132,421,451 (GRCm39) |
D186G |
probably damaging |
Het |
| Tdrd9 |
A |
C |
12: 112,002,824 (GRCm39) |
R824S |
possibly damaging |
Het |
| Tmem161a |
T |
C |
8: 70,630,260 (GRCm39) |
|
probably null |
Het |
| Trim55 |
G |
A |
3: 19,728,671 (GRCm39) |
G494D |
possibly damaging |
Het |
| Ttc17 |
T |
A |
2: 94,237,010 (GRCm39) |
M1L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ugt3a1 |
A |
C |
15: 9,280,133 (GRCm39) |
S32R |
probably damaging |
Het |
| Vgll3 |
T |
C |
16: 65,636,343 (GRCm39) |
S220P |
probably benign |
Het |
| Virma |
A |
G |
4: 11,544,898 (GRCm39) |
E1569G |
probably damaging |
Het |
| Vmn1r54 |
C |
G |
6: 90,246,984 (GRCm39) |
F299L |
probably benign |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,690 (GRCm39) |
S597P |
probably damaging |
Het |
| Wdr97 |
A |
G |
15: 76,245,476 (GRCm39) |
Y1271C |
|
Het |
| Yju2b |
T |
C |
8: 84,987,084 (GRCm39) |
K138E |
possibly damaging |
Het |
| Ypel4 |
A |
G |
2: 84,568,068 (GRCm39) |
Y108C |
probably damaging |
Het |
| Zfp770 |
A |
G |
2: 114,027,766 (GRCm39) |
V101A |
probably damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,575,729 (GRCm39) |
C451S |
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 |
|
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 |
|
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'- TCACTGCTCATTGTCACAGG -3'
(R):5'- CCATTCATTTCAGCCGTAAACG -3'
Sequencing Primer
(F):5'- GCTCATTGTCACAGGTCTATTATC -3'
(R):5'- CGTAAACGGTTAACTTGCTTTGC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation