Incidental Mutation 'R8310:Wdr7'
| ID |
641356 |
| 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 |
067795-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R8310 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
63841756-64122847 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 63868756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 275
(T275I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072726]
|
| AlphaFold |
Q920I9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072726
AA Change: T275I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: T275I
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (50/51) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830005F24Rik |
T |
G |
13: 48,667,727 (GRCm39) |
W10G |
unknown |
Het |
| Abca13 |
A |
T |
11: 9,328,269 (GRCm39) |
K3447N |
possibly damaging |
Het |
| Agtr1a |
T |
G |
13: 30,565,745 (GRCm39) |
V270G |
probably benign |
Het |
| Apob |
A |
T |
12: 8,059,033 (GRCm39) |
H2505L |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,850,629 (GRCm39) |
V86D |
possibly damaging |
Het |
| Cacna1s |
C |
A |
1: 136,015,075 (GRCm39) |
N654K |
probably damaging |
Het |
| Ccdc146 |
A |
T |
5: 21,506,469 (GRCm39) |
|
probably benign |
Het |
| Ccdc8 |
T |
C |
7: 16,729,326 (GRCm39) |
S272P |
probably damaging |
Het |
| Cnksr1 |
T |
C |
4: 133,956,730 (GRCm39) |
E510G |
probably damaging |
Het |
| Cnot6l |
A |
T |
5: 96,239,535 (GRCm39) |
D255E |
probably benign |
Het |
| Ddx1 |
A |
C |
12: 13,274,280 (GRCm39) |
|
probably benign |
Het |
| Dyrk1a |
A |
G |
16: 94,492,650 (GRCm39) |
T628A |
probably benign |
Het |
| Elavl1 |
A |
T |
8: 4,351,786 (GRCm39) |
I110N |
probably damaging |
Het |
| Emilin2 |
C |
G |
17: 71,562,141 (GRCm39) |
D954H |
probably damaging |
Het |
| Erich3 |
C |
T |
3: 154,410,586 (GRCm39) |
T147I |
|
Het |
| Galnt1 |
A |
T |
18: 24,404,686 (GRCm39) |
H341L |
probably damaging |
Het |
| Gm14325 |
A |
T |
2: 177,473,592 (GRCm39) |
C497S |
probably damaging |
Het |
| Gm4922 |
A |
T |
10: 18,659,536 (GRCm39) |
N395K |
probably benign |
Het |
| Hsd17b2 |
G |
A |
8: 118,469,155 (GRCm39) |
C189Y |
probably damaging |
Het |
| Kcnn1 |
A |
T |
8: 71,305,449 (GRCm39) |
S254T |
possibly damaging |
Het |
| Lce1l |
G |
C |
3: 92,757,766 (GRCm39) |
P31A |
unknown |
Het |
| Lrpprc |
A |
G |
17: 85,080,524 (GRCm39) |
Y199H |
probably damaging |
Het |
| Lrrtm3 |
A |
T |
10: 63,925,487 (GRCm39) |
|
probably null |
Het |
| Mon2 |
G |
T |
10: 122,838,688 (GRCm39) |
A1598E |
probably damaging |
Het |
| Myh3 |
A |
T |
11: 66,986,833 (GRCm39) |
|
probably null |
Het |
| Naa11 |
A |
T |
5: 97,539,737 (GRCm39) |
D140E |
probably damaging |
Het |
| Nadk2 |
G |
A |
15: 9,103,420 (GRCm39) |
R350Q |
probably benign |
Het |
| Npc1 |
T |
C |
18: 12,326,455 (GRCm39) |
I1162V |
probably damaging |
Het |
| Or4e1 |
A |
G |
14: 52,701,280 (GRCm39) |
M62T |
probably damaging |
Het |
| Or5v1 |
T |
C |
17: 37,810,148 (GRCm39) |
I202T |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,613,461 (GRCm39) |
N2001K |
possibly damaging |
Het |
| Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,171,912 (GRCm39) |
|
probably null |
Het |
| Ppp2r5c |
A |
T |
12: 110,512,259 (GRCm39) |
T185S |
possibly damaging |
Het |
| Psd2 |
A |
T |
18: 36,112,766 (GRCm39) |
S154C |
probably damaging |
Het |
| Rnasel |
G |
A |
1: 153,630,734 (GRCm39) |
V417M |
possibly damaging |
Het |
| Slc35g2 |
A |
G |
9: 100,434,841 (GRCm39) |
S277P |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,070,158 (GRCm39) |
W140R |
possibly damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,340,250 (GRCm39) |
K512E |
probably damaging |
Het |
| Sox7 |
C |
T |
14: 64,181,275 (GRCm39) |
S24L |
probably benign |
Het |
| Specc1 |
A |
G |
11: 62,023,171 (GRCm39) |
K659E |
probably damaging |
Het |
| Stx18 |
T |
A |
5: 38,285,383 (GRCm39) |
|
probably null |
Het |
| Svs5 |
C |
A |
2: 164,080,091 (GRCm39) |
G25W |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,297,829 (GRCm39) |
M1156T |
probably benign |
Het |
| Tars2 |
T |
A |
3: 95,658,271 (GRCm39) |
I185F |
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,396,612 (GRCm39) |
I839V |
|
Het |
| Vmn1r115 |
T |
C |
7: 20,578,819 (GRCm39) |
N31S |
probably damaging |
Het |
| Vmn1r57 |
A |
G |
7: 5,224,024 (GRCm39) |
D183G |
probably damaging |
Het |
| Ybx2 |
A |
G |
11: 69,831,194 (GRCm39) |
E263G |
probably damaging |
Het |
| Zbtb6 |
G |
T |
2: 37,319,896 (GRCm39) |
Q11K |
probably benign |
Het |
| Zfp329 |
A |
T |
7: 12,544,116 (GRCm39) |
C469* |
probably null |
Het |
| Zfp868 |
A |
T |
8: 70,066,446 (GRCm39) |
L40H |
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 |
|
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'- CTGCTGAATATTTTAAAAGCCTGGG -3'
(R):5'- ACCTAGAAGTTAAACTGGGCC -3'
Sequencing Primer
(F):5'- GTTTGATGCTGGCGACTA -3'
(R):5'- CCTAGAAGTTAAACTGGGCCTATAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation