Incidental Mutation 'R1593:Wdr49'
ID |
175600 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr49
|
Ensembl Gene |
ENSMUSG00000104301 |
Gene Name |
WD repeat domain 49 |
Synonyms |
EG213248 |
MMRRC Submission |
039630-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R1593 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
75182295-75389463 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75304248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 487
(N487S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000193989]
[ENSMUST00000203169]
[ENSMUST00000204341]
|
AlphaFold |
A0A0N4SUK7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000178270
AA Change: N424S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000137584 Gene: ENSMUSG00000095162 AA Change: N424S
Domain | Start | End | E-Value | Type |
WD40
|
73 |
113 |
3.18e1 |
SMART |
WD40
|
115 |
161 |
2.74e2 |
SMART |
WD40
|
249 |
290 |
7.92e1 |
SMART |
WD40
|
295 |
333 |
1.99e0 |
SMART |
WD40
|
337 |
376 |
3.05e-4 |
SMART |
Blast:WD40
|
423 |
448 |
1e-7 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191976
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193989
AA Change: N146S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000144721 Gene: ENSMUSG00000104301 AA Change: N146S
Domain | Start | End | E-Value | Type |
WD40
|
17 |
55 |
1.3e-2 |
SMART |
WD40
|
59 |
98 |
2e-6 |
SMART |
WD40
|
145 |
184 |
2.5e-2 |
SMART |
WD40
|
187 |
228 |
3.6e-8 |
SMART |
WD40
|
281 |
318 |
8.7e-6 |
SMART |
WD40
|
365 |
412 |
2.2e-1 |
SMART |
WD40
|
415 |
455 |
8.4e-4 |
SMART |
WD40
|
471 |
512 |
3.1e-2 |
SMART |
Blast:SERPIN
|
608 |
673 |
7e-12 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203169
AA Change: N487S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000144789 Gene: ENSMUSG00000104301 AA Change: N487S
Domain | Start | End | E-Value | Type |
WD40
|
136 |
176 |
2e-1 |
SMART |
WD40
|
178 |
224 |
1.8e0 |
SMART |
WD40
|
312 |
353 |
5.1e-1 |
SMART |
WD40
|
358 |
396 |
1.3e-2 |
SMART |
WD40
|
400 |
439 |
2e-6 |
SMART |
Blast:WD40
|
486 |
511 |
1e-7 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204341
AA Change: N424S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000145379 Gene: ENSMUSG00000104301 AA Change: N424S
Domain | Start | End | E-Value | Type |
WD40
|
73 |
113 |
3.18e1 |
SMART |
WD40
|
115 |
161 |
2.74e2 |
SMART |
WD40
|
249 |
290 |
7.92e1 |
SMART |
WD40
|
295 |
333 |
1.99e0 |
SMART |
WD40
|
337 |
376 |
3.05e-4 |
SMART |
Blast:WD40
|
423 |
448 |
1e-7 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
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 with nine WD repeats. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acly |
A |
T |
11: 100,372,581 (GRCm39) |
I902N |
possibly damaging |
Het |
Acsl6 |
A |
G |
11: 54,214,134 (GRCm39) |
D88G |
probably damaging |
Het |
Adam1a |
A |
C |
5: 121,657,706 (GRCm39) |
I529S |
probably benign |
Het |
Ap3b1 |
T |
C |
13: 94,638,435 (GRCm39) |
V838A |
unknown |
Het |
Arrdc2 |
T |
C |
8: 71,289,764 (GRCm39) |
Y280C |
probably damaging |
Het |
Atg10 |
T |
C |
13: 91,302,380 (GRCm39) |
T53A |
probably benign |
Het |
Ccdc136 |
T |
C |
6: 29,415,583 (GRCm39) |
S699P |
probably damaging |
Het |
Cdc23 |
C |
A |
18: 34,769,379 (GRCm39) |
V462L |
possibly damaging |
Het |
Clcn6 |
C |
T |
4: 148,099,051 (GRCm39) |
A431T |
probably benign |
Het |
Cntn6 |
T |
G |
6: 104,809,541 (GRCm39) |
H525Q |
possibly damaging |
Het |
Ctr9 |
T |
C |
7: 110,642,060 (GRCm39) |
F296S |
possibly damaging |
Het |
Ctsq |
T |
A |
13: 61,183,986 (GRCm39) |
|
probably null |
Het |
Ehd1 |
A |
G |
19: 6,348,330 (GRCm39) |
D436G |
|
Het |
Epha6 |
A |
T |
16: 60,245,267 (GRCm39) |
F311I |
probably damaging |
Het |
Esrrg |
A |
T |
1: 187,798,582 (GRCm39) |
T150S |
possibly damaging |
Het |
Exoc2 |
C |
A |
13: 31,040,744 (GRCm39) |
R758L |
possibly damaging |
Het |
Exosc7 |
G |
C |
9: 122,961,058 (GRCm39) |
V242L |
probably benign |
Het |
Fcho2 |
T |
C |
13: 98,921,315 (GRCm39) |
D190G |
possibly damaging |
Het |
Fgd6 |
T |
C |
10: 93,880,894 (GRCm39) |
S583P |
probably damaging |
Het |
Frmd4a |
A |
G |
2: 4,477,999 (GRCm39) |
Y60C |
probably damaging |
Het |
Gldc |
A |
T |
19: 30,091,150 (GRCm39) |
I815N |
probably damaging |
Het |
Grm2 |
A |
T |
9: 106,528,113 (GRCm39) |
L257Q |
probably damaging |
Het |
Hectd3 |
C |
A |
4: 116,854,217 (GRCm39) |
T289K |
possibly damaging |
Het |
Itgb4 |
T |
C |
11: 115,871,817 (GRCm39) |
V207A |
probably damaging |
Het |
Lamb3 |
A |
G |
1: 193,013,104 (GRCm39) |
E443G |
probably damaging |
Het |
Meis2 |
T |
A |
2: 115,830,745 (GRCm39) |
D256V |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,754,686 (GRCm38) |
N1520S |
probably benign |
Het |
Nckap1l |
A |
G |
15: 103,387,281 (GRCm39) |
R719G |
probably null |
Het |
Or6c210 |
A |
T |
10: 129,496,094 (GRCm39) |
R140* |
probably null |
Het |
Pabpc6 |
A |
T |
17: 9,886,742 (GRCm39) |
M603K |
probably damaging |
Het |
Pcnx2 |
C |
A |
8: 126,486,012 (GRCm39) |
R1862L |
probably benign |
Het |
Pgap6 |
T |
A |
17: 26,337,381 (GRCm39) |
I399N |
possibly damaging |
Het |
Pon2 |
T |
C |
6: 5,273,003 (GRCm39) |
D122G |
probably benign |
Het |
Ppig |
T |
A |
2: 69,579,425 (GRCm39) |
W378R |
unknown |
Het |
Ralgapa1 |
T |
A |
12: 55,817,488 (GRCm39) |
E389D |
probably damaging |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Rarg |
A |
G |
15: 102,148,376 (GRCm39) |
F233L |
probably damaging |
Het |
Rasgrp2 |
T |
C |
19: 6,453,490 (GRCm39) |
F90L |
possibly damaging |
Het |
Rrp12 |
T |
A |
19: 41,851,680 (GRCm39) |
H1285L |
probably benign |
Het |
Slc16a13 |
C |
A |
11: 70,109,908 (GRCm39) |
A198S |
probably benign |
Het |
Spag9 |
A |
G |
11: 93,988,059 (GRCm39) |
D441G |
probably damaging |
Het |
Stxbp5l |
A |
G |
16: 36,936,414 (GRCm39) |
F1099S |
probably damaging |
Het |
Tex19.1 |
T |
A |
11: 121,038,079 (GRCm39) |
W146R |
probably damaging |
Het |
Tmod3 |
T |
C |
9: 75,418,445 (GRCm39) |
D197G |
probably benign |
Het |
Tpp2 |
A |
G |
1: 44,014,593 (GRCm39) |
H644R |
probably benign |
Het |
Trpm2 |
A |
G |
10: 77,778,910 (GRCm39) |
V352A |
possibly damaging |
Het |
Tulp1 |
T |
C |
17: 28,581,675 (GRCm39) |
K233E |
probably damaging |
Het |
Vsir |
A |
G |
10: 60,193,737 (GRCm39) |
T67A |
possibly damaging |
Het |
Zbtb20 |
A |
G |
16: 43,429,786 (GRCm39) |
N99S |
probably damaging |
Het |
Zfp583 |
C |
T |
7: 6,320,008 (GRCm39) |
G335S |
probably benign |
Het |
Zgrf1 |
T |
A |
3: 127,354,675 (GRCm39) |
V98E |
possibly damaging |
Het |
|
Other mutations in Wdr49 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0266:Wdr49
|
UTSW |
3 |
75,359,103 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0432:Wdr49
|
UTSW |
3 |
75,357,329 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0599:Wdr49
|
UTSW |
3 |
75,357,197 (GRCm39) |
splice site |
probably null |
|
R0599:Wdr49
|
UTSW |
3 |
75,338,383 (GRCm39) |
splice site |
probably null |
|
R0948:Wdr49
|
UTSW |
3 |
75,358,158 (GRCm39) |
missense |
probably benign |
0.06 |
R1341:Wdr49
|
UTSW |
3 |
75,336,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R1526:Wdr49
|
UTSW |
3 |
75,304,227 (GRCm39) |
missense |
probably benign |
0.03 |
R1603:Wdr49
|
UTSW |
3 |
75,304,177 (GRCm39) |
nonsense |
probably null |
|
R1874:Wdr49
|
UTSW |
3 |
75,336,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R2986:Wdr49
|
UTSW |
3 |
75,289,347 (GRCm39) |
missense |
probably benign |
0.11 |
R3013:Wdr49
|
UTSW |
3 |
75,358,154 (GRCm39) |
missense |
probably damaging |
0.96 |
R3025:Wdr49
|
UTSW |
3 |
75,240,663 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4027:Wdr49
|
UTSW |
3 |
75,230,972 (GRCm39) |
missense |
probably benign |
0.05 |
R4029:Wdr49
|
UTSW |
3 |
75,230,972 (GRCm39) |
missense |
probably benign |
0.05 |
R4030:Wdr49
|
UTSW |
3 |
75,230,972 (GRCm39) |
missense |
probably benign |
0.05 |
R4031:Wdr49
|
UTSW |
3 |
75,230,972 (GRCm39) |
missense |
probably benign |
0.05 |
R4578:Wdr49
|
UTSW |
3 |
75,242,550 (GRCm39) |
missense |
probably benign |
0.00 |
R6024:Wdr49
|
UTSW |
3 |
75,209,133 (GRCm39) |
missense |
probably benign |
0.02 |
R6141:Wdr49
|
UTSW |
3 |
75,230,989 (GRCm39) |
missense |
probably benign |
|
R6172:Wdr49
|
UTSW |
3 |
75,205,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R6263:Wdr49
|
UTSW |
3 |
75,388,824 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6501:Wdr49
|
UTSW |
3 |
75,246,765 (GRCm39) |
missense |
probably benign |
0.01 |
R6584:Wdr49
|
UTSW |
3 |
75,245,065 (GRCm39) |
missense |
probably benign |
0.01 |
R6698:Wdr49
|
UTSW |
3 |
75,336,673 (GRCm39) |
missense |
probably benign |
0.01 |
R6891:Wdr49
|
UTSW |
3 |
75,240,590 (GRCm39) |
splice site |
probably null |
|
R7202:Wdr49
|
UTSW |
3 |
75,240,580 (GRCm39) |
missense |
probably benign |
0.11 |
R7214:Wdr49
|
UTSW |
3 |
75,265,751 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7572:Wdr49
|
UTSW |
3 |
75,265,744 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7575:Wdr49
|
UTSW |
3 |
75,358,193 (GRCm39) |
missense |
probably damaging |
0.96 |
R7673:Wdr49
|
UTSW |
3 |
75,358,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R7790:Wdr49
|
UTSW |
3 |
75,182,335 (GRCm39) |
missense |
probably benign |
0.16 |
R7958:Wdr49
|
UTSW |
3 |
75,338,454 (GRCm39) |
missense |
probably benign |
0.08 |
R8444:Wdr49
|
UTSW |
3 |
75,358,997 (GRCm39) |
missense |
probably benign |
0.00 |
R9183:Wdr49
|
UTSW |
3 |
75,205,419 (GRCm39) |
missense |
probably benign |
0.08 |
R9213:Wdr49
|
UTSW |
3 |
75,205,419 (GRCm39) |
missense |
probably benign |
0.08 |
R9374:Wdr49
|
UTSW |
3 |
75,230,931 (GRCm39) |
missense |
probably benign |
|
R9492:Wdr49
|
UTSW |
3 |
75,240,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R9552:Wdr49
|
UTSW |
3 |
75,230,931 (GRCm39) |
missense |
probably benign |
|
R9595:Wdr49
|
UTSW |
3 |
75,265,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R9655:Wdr49
|
UTSW |
3 |
75,240,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R9717:Wdr49
|
UTSW |
3 |
75,304,359 (GRCm39) |
missense |
probably benign |
0.17 |
Z1176:Wdr49
|
UTSW |
3 |
75,358,840 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Wdr49
|
UTSW |
3 |
75,357,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCAGCTCCTGCCCGTGT -3'
(R):5'- AGAGGCGACAACCAGGGTCA -3'
Sequencing Primer
(F):5'- acatccatcactttactaaaccaac -3'
(R):5'- GGTACAGCCTGAAACTGTTATTG -3'
|
Posted On |
2014-04-24 |