Incidental Mutation 'R6234:Wdr7'
ID |
504839 |
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 |
044399-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.859)
|
Stock # |
R6234 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
63841756-64122847 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 63857203 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 93
(L93P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072509
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072726]
|
AlphaFold |
Q920I9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072726
AA Change: L93P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072509 Gene: ENSMUSG00000040560 AA Change: L93P
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: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (51/51) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
G |
8: 44,078,949 (GRCm39) |
N425T |
probably benign |
Het |
Adgb |
A |
C |
10: 10,228,824 (GRCm39) |
|
probably null |
Het |
Aldoart1 |
A |
G |
4: 72,770,409 (GRCm39) |
I78T |
probably damaging |
Het |
Bcl2l2 |
A |
G |
14: 55,122,245 (GRCm39) |
D136G |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,037,620 (GRCm39) |
T2475A |
probably benign |
Het |
Cd34 |
A |
T |
1: 194,630,308 (GRCm39) |
I81F |
probably damaging |
Het |
Chmp1b |
T |
A |
18: 67,339,169 (GRCm39) |
*200R |
probably null |
Het |
Clic6 |
T |
C |
16: 92,296,110 (GRCm39) |
S257P |
probably benign |
Het |
Cnga4 |
T |
G |
7: 105,056,906 (GRCm39) |
Y336* |
probably null |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Eef1akmt2 |
T |
C |
7: 132,429,585 (GRCm39) |
T215A |
probably damaging |
Het |
Fbrsl1 |
G |
A |
5: 110,525,917 (GRCm39) |
T95I |
probably damaging |
Het |
Fer1l6 |
T |
C |
15: 58,432,488 (GRCm39) |
I345T |
probably damaging |
Het |
Fmn1 |
T |
C |
2: 113,196,000 (GRCm39) |
F567L |
unknown |
Het |
Ftdc1 |
T |
A |
16: 58,435,034 (GRCm39) |
D97V |
probably benign |
Het |
Gabrg1 |
A |
T |
5: 70,999,484 (GRCm39) |
L22I |
probably benign |
Het |
Gfm1 |
A |
G |
3: 67,342,847 (GRCm39) |
D127G |
probably damaging |
Het |
Gm5114 |
T |
A |
7: 39,058,768 (GRCm39) |
T284S |
probably benign |
Het |
Gm9925 |
A |
T |
18: 74,198,308 (GRCm39) |
|
probably benign |
Het |
Hc |
T |
C |
2: 34,918,058 (GRCm39) |
I742V |
probably benign |
Het |
Heatr5a |
A |
T |
12: 51,924,237 (GRCm39) |
M1992K |
possibly damaging |
Het |
Homer3 |
T |
C |
8: 70,743,815 (GRCm39) |
|
probably null |
Het |
Hsf5 |
C |
G |
11: 87,508,120 (GRCm39) |
T8S |
probably benign |
Het |
Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
Il21r |
A |
G |
7: 125,231,757 (GRCm39) |
D395G |
probably damaging |
Het |
Kctd14 |
T |
A |
7: 97,107,219 (GRCm39) |
V190E |
probably damaging |
Het |
Mamdc4 |
C |
G |
2: 25,460,092 (GRCm39) |
G57A |
probably damaging |
Het |
Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
Mroh2a |
T |
C |
1: 88,184,476 (GRCm39) |
V1453A |
probably benign |
Het |
Mtch1 |
A |
T |
17: 29,559,485 (GRCm39) |
|
probably null |
Het |
Nasp |
G |
A |
4: 116,479,979 (GRCm39) |
A31V |
possibly damaging |
Het |
Neil3 |
G |
T |
8: 54,061,774 (GRCm39) |
D202E |
probably damaging |
Het |
Nfkb1 |
C |
T |
3: 135,332,471 (GRCm39) |
V95I |
possibly damaging |
Het |
Ptpra |
T |
A |
2: 130,379,508 (GRCm39) |
M327K |
probably damaging |
Het |
Ptprg |
C |
A |
14: 12,213,747 (GRCm38) |
F263L |
probably damaging |
Het |
Sap30 |
A |
G |
8: 57,938,152 (GRCm39) |
V155A |
probably damaging |
Het |
Serpinb2 |
G |
A |
1: 107,452,501 (GRCm39) |
V360M |
probably damaging |
Het |
Stradb |
A |
G |
1: 59,027,707 (GRCm39) |
H79R |
probably damaging |
Het |
Svep1 |
A |
T |
4: 58,113,458 (GRCm39) |
|
probably null |
Het |
Tcaf2 |
A |
T |
6: 42,607,308 (GRCm39) |
H215Q |
probably benign |
Het |
Tdrd5 |
A |
T |
1: 156,120,947 (GRCm39) |
S227T |
possibly damaging |
Het |
Timmdc1 |
A |
T |
16: 38,338,861 (GRCm39) |
Y76* |
probably null |
Het |
Tmbim4 |
T |
A |
10: 120,057,628 (GRCm39) |
|
probably null |
Het |
Tpr |
A |
G |
1: 150,293,790 (GRCm39) |
K854R |
probably benign |
Het |
Trav6-5 |
A |
G |
14: 53,728,832 (GRCm39) |
T30A |
probably benign |
Het |
Trrap |
T |
A |
5: 144,776,523 (GRCm39) |
|
probably null |
Het |
Ube2o |
A |
T |
11: 116,430,316 (GRCm39) |
S1141T |
probably benign |
Het |
Usp54 |
T |
A |
14: 20,633,518 (GRCm39) |
K339I |
probably damaging |
Het |
Vwf |
T |
G |
6: 125,634,128 (GRCm39) |
V202G |
unknown |
Het |
Zfp871 |
CCACAC |
CC |
17: 32,994,494 (GRCm39) |
|
probably null |
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 |
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'- ACTGAAGTGGGGCATTGAC -3'
(R):5'- TTCCATAAGTGCAACCGGTG -3'
Sequencing Primer
(F):5'- CATTGACAGGTTGGAAATGGGGTC -3'
(R):5'- GAGACTGACTGACTAGGTTTCTCAC -3'
|
Posted On |
2018-02-28 |