Incidental Mutation 'R0432:Wdr7'
| ID |
38878 |
| 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 |
038634-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R0432 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
63841756-64122847 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63929320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1052
(Y1052C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072726]
|
| AlphaFold |
Q920I9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072726
AA Change: Y1052C
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: Y1052C
| 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 |
0.3850 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.9%
|
| Validation Efficiency |
99% (91/92) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
A |
G |
17: 36,206,708 (GRCm39) |
L110P |
probably damaging |
Het |
| 4930522L14Rik |
A |
T |
5: 109,884,785 (GRCm39) |
C358S |
probably damaging |
Het |
| Abca8b |
C |
A |
11: 109,870,841 (GRCm39) |
V104F |
possibly damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,905,551 (GRCm39) |
|
probably benign |
Het |
| Ahctf1 |
A |
C |
1: 179,611,726 (GRCm39) |
I548R |
probably damaging |
Het |
| Alox12b |
G |
T |
11: 69,060,382 (GRCm39) |
G646V |
probably damaging |
Het |
| Aoah |
C |
T |
13: 21,095,368 (GRCm39) |
|
probably benign |
Het |
| Arhgap39 |
C |
T |
15: 76,619,086 (GRCm39) |
D833N |
probably damaging |
Het |
| Atxn1l |
A |
G |
8: 110,458,325 (GRCm39) |
W646R |
probably damaging |
Het |
| Cabp2 |
T |
C |
19: 4,134,903 (GRCm39) |
I28T |
possibly damaging |
Het |
| Cacna1b |
G |
A |
2: 24,577,716 (GRCm39) |
T719I |
probably damaging |
Het |
| Camk1d |
A |
T |
2: 5,449,946 (GRCm39) |
H70Q |
probably damaging |
Het |
| Car1 |
T |
C |
3: 14,835,236 (GRCm39) |
T170A |
probably benign |
Het |
| Ccdc162 |
T |
C |
10: 41,417,856 (GRCm39) |
T2113A |
probably benign |
Het |
| Cdc5l |
G |
A |
17: 45,726,610 (GRCm39) |
R321W |
probably damaging |
Het |
| Cdh17 |
T |
A |
4: 11,771,273 (GRCm39) |
C18* |
probably null |
Het |
| Cdk17 |
A |
T |
10: 93,073,652 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,721,078 (GRCm39) |
|
probably benign |
Het |
| Chrm5 |
T |
A |
2: 112,310,000 (GRCm39) |
K372M |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,738,487 (GRCm39) |
T423A |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,999,550 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,143,848 (GRCm39) |
M512T |
possibly damaging |
Het |
| Dclk3 |
A |
G |
9: 111,314,003 (GRCm39) |
D693G |
probably damaging |
Het |
| Dcun1d3 |
T |
A |
7: 119,457,173 (GRCm39) |
K180* |
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,324,235 (GRCm39) |
R876G |
probably benign |
Het |
| Dnmbp |
A |
T |
19: 43,843,296 (GRCm39) |
Y432* |
probably null |
Het |
| Elapor2 |
G |
T |
5: 9,490,966 (GRCm39) |
G659* |
probably null |
Het |
| Eml2 |
C |
T |
7: 18,913,456 (GRCm39) |
Q125* |
probably null |
Het |
| Faap100 |
A |
C |
11: 120,264,702 (GRCm39) |
|
probably benign |
Het |
| Foxp2 |
T |
C |
6: 15,254,278 (GRCm39) |
|
probably benign |
Het |
| Gda |
A |
G |
19: 21,394,471 (GRCm39) |
Y129H |
probably damaging |
Het |
| Gga3 |
G |
A |
11: 115,481,350 (GRCm39) |
R207C |
probably damaging |
Het |
| Glg1 |
T |
C |
8: 111,909,201 (GRCm39) |
I496M |
probably damaging |
Het |
| Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
| Gm10322 |
A |
T |
10: 59,452,030 (GRCm39) |
H49L |
possibly damaging |
Het |
| Golga5 |
G |
T |
12: 102,442,467 (GRCm39) |
V269F |
possibly damaging |
Het |
| Gramd2b |
G |
A |
18: 56,607,141 (GRCm39) |
C85Y |
probably benign |
Het |
| Grhl1 |
C |
T |
12: 24,632,918 (GRCm39) |
P153L |
probably benign |
Het |
| Hdac9 |
T |
C |
12: 34,487,221 (GRCm39) |
Q60R |
probably damaging |
Het |
| Hdlbp |
T |
C |
1: 93,353,054 (GRCm39) |
I414V |
probably damaging |
Het |
| Itpk1 |
C |
T |
12: 102,572,337 (GRCm39) |
|
probably benign |
Het |
| Itsn1 |
T |
A |
16: 91,612,408 (GRCm39) |
Y266N |
probably damaging |
Het |
| Lipe |
G |
A |
7: 25,097,913 (GRCm39) |
P10L |
probably benign |
Het |
| Lrrc8a |
A |
G |
2: 30,147,079 (GRCm39) |
E631G |
probably damaging |
Het |
| Lvrn |
T |
A |
18: 47,038,366 (GRCm39) |
N973K |
possibly damaging |
Het |
| Man2c1 |
T |
A |
9: 57,042,881 (GRCm39) |
H250Q |
probably damaging |
Het |
| Mup3 |
T |
C |
4: 62,003,519 (GRCm39) |
T117A |
probably benign |
Het |
| Myo6 |
A |
C |
9: 80,181,256 (GRCm39) |
|
probably benign |
Het |
| Nbn |
T |
A |
4: 15,983,951 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,829,770 (GRCm39) |
N157K |
probably damaging |
Het |
| Or4p7 |
C |
T |
2: 88,222,377 (GRCm39) |
T262I |
probably damaging |
Het |
| Or5an1 |
T |
A |
19: 12,261,267 (GRCm39) |
M285K |
probably damaging |
Het |
| Or5m12 |
T |
A |
2: 85,734,501 (GRCm39) |
N299I |
probably damaging |
Het |
| Or5w14 |
G |
A |
2: 87,541,774 (GRCm39) |
H159Y |
probably benign |
Het |
| Or9m1 |
T |
C |
2: 87,733,304 (GRCm39) |
T239A |
probably damaging |
Het |
| P4ha1 |
T |
A |
10: 59,184,079 (GRCm39) |
Y180* |
probably null |
Het |
| Pcdhb19 |
T |
A |
18: 37,632,588 (GRCm39) |
F794L |
probably benign |
Het |
| Pdxdc1 |
T |
A |
16: 13,672,264 (GRCm39) |
I379F |
probably damaging |
Het |
| Psme3 |
T |
A |
11: 101,211,268 (GRCm39) |
S185T |
possibly damaging |
Het |
| Ptgr1 |
A |
G |
4: 58,978,045 (GRCm39) |
S116P |
probably damaging |
Het |
| Ptpn23 |
A |
T |
9: 110,218,078 (GRCm39) |
|
probably null |
Het |
| Rabgap1l |
A |
C |
1: 160,549,775 (GRCm39) |
I277R |
probably benign |
Het |
| Rapgef1 |
C |
T |
2: 29,569,828 (GRCm39) |
T93I |
possibly damaging |
Het |
| Rbp3 |
A |
T |
14: 33,676,730 (GRCm39) |
D226V |
probably damaging |
Het |
| Rnf144a |
A |
T |
12: 26,389,328 (GRCm39) |
C38S |
probably damaging |
Het |
| Rptor |
C |
T |
11: 119,671,379 (GRCm39) |
Q281* |
probably null |
Het |
| Rragd |
T |
C |
4: 33,004,332 (GRCm39) |
L208S |
probably damaging |
Het |
| Slc12a4 |
T |
C |
8: 106,686,120 (GRCm39) |
E41G |
probably damaging |
Het |
| Slc16a1 |
G |
T |
3: 104,560,735 (GRCm39) |
V347F |
probably benign |
Het |
| Slit1 |
G |
A |
19: 41,731,732 (GRCm39) |
T39I |
probably damaging |
Het |
| Sra1 |
T |
C |
18: 36,810,556 (GRCm39) |
N98S |
probably benign |
Het |
| Ssx2ip |
T |
C |
3: 146,132,184 (GRCm39) |
L215P |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 75,995,838 (GRCm39) |
H2126L |
probably damaging |
Het |
| Tep1 |
TTTCTTCTTCTT |
TTTCTTCTT |
14: 51,104,280 (GRCm39) |
|
probably benign |
Het |
| Tgfbi |
T |
C |
13: 56,780,004 (GRCm39) |
|
probably benign |
Het |
| Tmem232 |
T |
C |
17: 65,563,498 (GRCm39) |
M632V |
probably damaging |
Het |
| Tmem81 |
C |
G |
1: 132,435,567 (GRCm39) |
I124M |
probably damaging |
Het |
| Tnnt3 |
T |
G |
7: 142,065,823 (GRCm39) |
D153E |
probably benign |
Het |
| Tnrc6b |
T |
A |
15: 80,807,647 (GRCm39) |
|
probably benign |
Het |
| Tpsab1 |
A |
G |
17: 25,562,798 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,351,505 (GRCm39) |
V1431D |
probably damaging |
Het |
| Wdr49 |
G |
T |
3: 75,357,329 (GRCm39) |
R285S |
possibly damaging |
Het |
| Zan |
A |
T |
5: 137,380,578 (GRCm39) |
|
probably benign |
Het |
| Zfp652 |
G |
A |
11: 95,654,565 (GRCm39) |
V323I |
possibly damaging |
Het |
| Zfp740 |
A |
G |
15: 102,121,094 (GRCm39) |
T136A |
possibly damaging |
Het |
| Zfp82 |
C |
T |
7: 29,755,754 (GRCm39) |
E443K |
probably damaging |
Het |
| Zfp874b |
A |
G |
13: 67,629,955 (GRCm39) |
S10P |
probably damaging |
Het |
| Zmynd19 |
A |
G |
2: 24,848,134 (GRCm39) |
Y110C |
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 |
|
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 |
|
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'- TTGTGGACATCACTTTAGGAACGGAC -3'
(R):5'- CAGTGTGGATCATGTGGAACCCATAAG -3'
Sequencing Primer
(F):5'- ACATGTTTCTTTTCTCTCATTGTTGC -3'
(R):5'- aagttagggttaattagggtaggg -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation