Incidental Mutation 'R9652:Wdr7'
| ID |
735424 |
| 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 # |
R9652 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
63841756-64122847 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 63860826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 161
(I161N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072726]
|
| AlphaFold |
Q920I9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072726
AA Change: I161N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: I161N
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.6%
- 20x: 99.1%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l1 |
G |
A |
18: 61,876,432 (GRCm39) |
T395M |
probably damaging |
Het |
| Akap8l |
T |
C |
17: 32,557,783 (GRCm39) |
N35D |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,756,887 (GRCm39) |
L922Q |
probably damaging |
Het |
| B3gnt9 |
G |
T |
8: 105,981,129 (GRCm39) |
F86L |
probably damaging |
Het |
| Bmp1 |
T |
C |
14: 70,715,360 (GRCm39) |
D925G |
probably damaging |
Het |
| Camkmt |
A |
T |
17: 85,759,713 (GRCm39) |
R284S |
probably benign |
Het |
| Cavin3 |
G |
T |
7: 105,131,304 (GRCm39) |
H21Q |
probably damaging |
Het |
| Ccp110 |
A |
G |
7: 118,334,553 (GRCm39) |
H180R |
|
Het |
| Cdh23 |
A |
T |
10: 60,167,135 (GRCm39) |
V1837E |
probably damaging |
Het |
| Ces3b |
G |
T |
8: 105,812,257 (GRCm39) |
A169S |
probably damaging |
Het |
| Chpt1 |
T |
C |
10: 88,325,499 (GRCm39) |
N122S |
probably benign |
Het |
| Cramp1 |
C |
A |
17: 25,201,783 (GRCm39) |
K566N |
probably damaging |
Het |
| Ctbp2 |
C |
G |
7: 132,615,933 (GRCm39) |
R334P |
probably damaging |
Het |
| Cwh43 |
T |
C |
5: 73,572,340 (GRCm39) |
S193P |
probably benign |
Het |
| Dcstamp |
A |
T |
15: 39,623,792 (GRCm39) |
D469V |
probably benign |
Het |
| Dst |
T |
A |
1: 34,219,458 (GRCm39) |
I1966N |
probably benign |
Het |
| Eif3i |
G |
T |
4: 129,489,094 (GRCm39) |
F121L |
probably benign |
Het |
| Erbb2 |
T |
C |
11: 98,326,812 (GRCm39) |
S1074P |
probably damaging |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,146,722 (GRCm39) |
|
probably null |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Gm2a |
T |
C |
11: 54,999,764 (GRCm39) |
V95A |
probably benign |
Het |
| Gp5 |
A |
C |
16: 30,128,393 (GRCm39) |
F94V |
probably damaging |
Het |
| Gramd4 |
G |
A |
15: 86,016,160 (GRCm39) |
E504K |
probably damaging |
Het |
| Gusb |
A |
G |
5: 130,026,652 (GRCm39) |
S450P |
probably damaging |
Het |
| Htr5a |
A |
G |
5: 28,047,838 (GRCm39) |
N131S |
possibly damaging |
Het |
| Itga2 |
G |
A |
13: 115,020,991 (GRCm39) |
P120L |
probably benign |
Het |
| Itpkb |
G |
T |
1: 180,160,056 (GRCm39) |
E61* |
probably null |
Het |
| Katnbl1 |
T |
A |
2: 112,239,497 (GRCm39) |
V232D |
probably damaging |
Het |
| Kifap3 |
T |
C |
1: 163,689,657 (GRCm39) |
L547P |
probably damaging |
Het |
| Krt6a |
C |
T |
15: 101,599,120 (GRCm39) |
V482M |
probably benign |
Het |
| Lrfn5 |
T |
A |
12: 61,890,418 (GRCm39) |
V569D |
probably damaging |
Het |
| Luzp2 |
A |
G |
7: 54,702,580 (GRCm39) |
T48A |
probably damaging |
Het |
| Mical2 |
G |
T |
7: 111,945,996 (GRCm39) |
R986L |
probably damaging |
Het |
| Mroh8 |
G |
A |
2: 157,094,970 (GRCm39) |
Q339* |
probably null |
Het |
| Msln |
A |
T |
17: 25,968,042 (GRCm39) |
V541E |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,498,178 (GRCm39) |
M6590L |
probably benign |
Het |
| Nhsl3 |
T |
C |
4: 129,117,962 (GRCm39) |
E279G |
possibly damaging |
Het |
| Nisch |
A |
T |
14: 30,893,628 (GRCm39) |
V1315E |
probably damaging |
Het |
| Nubp2 |
G |
A |
17: 25,103,382 (GRCm39) |
T165I |
probably damaging |
Het |
| Oog3 |
T |
G |
4: 143,884,489 (GRCm39) |
R482S |
probably benign |
Het |
| Or2a7 |
A |
G |
6: 43,150,991 (GRCm39) |
M24V |
probably benign |
Het |
| Or56a42-ps1 |
A |
T |
7: 104,775,985 (GRCm39) |
N164K |
probably benign |
Het |
| Or6c33 |
T |
C |
10: 129,853,809 (GRCm39) |
I193T |
possibly damaging |
Het |
| Or7a41 |
T |
C |
10: 78,871,230 (GRCm39) |
I200T |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,636 (GRCm39) |
F107I |
probably damaging |
Het |
| P3h4 |
A |
T |
11: 100,304,499 (GRCm39) |
C247* |
probably null |
Het |
| Pakap |
G |
A |
4: 57,710,125 (GRCm39) |
A357T |
possibly damaging |
Het |
| Plch2 |
T |
A |
4: 155,082,942 (GRCm39) |
M569L |
probably benign |
Het |
| Plcl1 |
A |
G |
1: 55,735,450 (GRCm39) |
T264A |
probably benign |
Het |
| Rad51ap1 |
G |
T |
6: 126,904,526 (GRCm39) |
N178K |
probably benign |
Het |
| Rasa4 |
T |
C |
5: 136,130,494 (GRCm39) |
L340P |
probably damaging |
Het |
| Rassf10 |
A |
G |
7: 112,554,784 (GRCm39) |
T462A |
probably benign |
Het |
| Rlf |
G |
C |
4: 121,007,865 (GRCm39) |
L482V |
probably damaging |
Het |
| Robo1 |
T |
G |
16: 72,821,330 (GRCm39) |
S1357A |
possibly damaging |
Het |
| Rp1l1 |
T |
C |
14: 64,269,714 (GRCm39) |
S1767P |
probably damaging |
Het |
| Rpl3l |
T |
A |
17: 24,947,328 (GRCm39) |
L14Q |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,635,047 (GRCm39) |
T2024S |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 110,040,702 (GRCm39) |
Q375R |
possibly damaging |
Het |
| Sema6a |
T |
C |
18: 47,382,252 (GRCm39) |
Q765R |
probably damaging |
Het |
| Senp6 |
T |
A |
9: 80,021,228 (GRCm39) |
Y303N |
probably damaging |
Het |
| Sertad4 |
C |
T |
1: 192,528,836 (GRCm39) |
D327N |
probably damaging |
Het |
| Slc22a15 |
T |
A |
3: 101,790,848 (GRCm39) |
Y219F |
possibly damaging |
Het |
| Slco1b2 |
T |
G |
6: 141,594,358 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
G |
T |
2: 127,067,959 (GRCm39) |
V819L |
probably damaging |
Het |
| Ssb |
C |
A |
2: 69,700,784 (GRCm39) |
A288E |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,101,620 (GRCm39) |
H638R |
probably benign |
Het |
| Tm7sf3 |
A |
G |
6: 146,527,698 (GRCm39) |
S43P |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,149,181 (GRCm39) |
H588R |
probably benign |
Het |
| Tnpo3 |
G |
A |
6: 29,560,173 (GRCm39) |
R657* |
probably null |
Het |
| Traf6 |
T |
C |
2: 101,518,927 (GRCm39) |
C139R |
probably damaging |
Het |
| Txnrd1 |
C |
A |
10: 82,720,390 (GRCm39) |
N424K |
possibly damaging |
Het |
| Ubqln3 |
T |
C |
7: 103,791,962 (GRCm39) |
I43V |
probably damaging |
Het |
| Usp32 |
A |
G |
11: 84,921,317 (GRCm39) |
V699A |
probably damaging |
Het |
| Vmn2r103 |
T |
C |
17: 20,014,027 (GRCm39) |
V273A |
probably benign |
Het |
| Vmn2r8 |
A |
G |
5: 108,951,107 (GRCm39) |
S113P |
probably benign |
Het |
| Zfp474 |
A |
T |
18: 52,772,015 (GRCm39) |
I223F |
probably damaging |
Het |
| Zfp583 |
A |
G |
7: 6,320,328 (GRCm39) |
L228P |
probably damaging |
Het |
| Zfyve27 |
A |
G |
19: 42,165,856 (GRCm39) |
T76A |
possibly 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 |
|
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'- CAAGTTTCGCAAGTGAAAGAGTAC -3'
(R):5'- AGGTAATCCAACACCTGTGAG -3'
Sequencing Primer
(F):5'- TCGCAAGTGAAAGAGTACATTTC -3'
(R):5'- AGGTAATCCAACACCTGTGAGGTAAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation