Incidental Mutation 'R4029:Wdr49'
ID |
475259 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr49
|
Ensembl Gene |
ENSMUSG00000104301 |
Gene Name |
WD repeat domain 49 |
Synonyms |
EG213248 |
MMRRC Submission |
040959-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R4029 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
75182295-75389463 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 75230972 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 563
(L563F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144721
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000193989]
|
AlphaFold |
A0A0N4SUK7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000193989
AA Change: L563F
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144721 Gene: ENSMUSG00000104301 AA Change: L563F
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (31/31) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
A |
G |
7: 119,293,008 (GRCm39) |
K46R |
probably benign |
Het |
Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
Atp9a |
A |
T |
2: 168,531,245 (GRCm39) |
I174N |
probably damaging |
Het |
Bfsp1 |
G |
A |
2: 143,673,749 (GRCm39) |
|
probably benign |
Het |
Cenpq |
T |
C |
17: 41,238,140 (GRCm39) |
T125A |
probably damaging |
Het |
Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
Dip2b |
A |
G |
15: 100,084,053 (GRCm39) |
Y892C |
probably damaging |
Het |
Dmrt2 |
T |
G |
19: 25,655,498 (GRCm39) |
S366A |
probably damaging |
Het |
Exoc7 |
C |
T |
11: 116,197,814 (GRCm39) |
|
probably benign |
Het |
Gabra4 |
G |
T |
5: 71,729,532 (GRCm39) |
T390K |
probably benign |
Het |
Gpr68 |
A |
G |
12: 100,845,475 (GRCm39) |
L23P |
probably damaging |
Het |
Krt17 |
T |
A |
11: 100,148,349 (GRCm39) |
N364I |
probably damaging |
Het |
Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
Ly6g6d |
T |
A |
17: 35,290,636 (GRCm39) |
Q98L |
probably benign |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Nck2 |
T |
C |
1: 43,593,251 (GRCm39) |
F153L |
probably benign |
Het |
Niban1 |
G |
A |
1: 151,571,441 (GRCm39) |
V239I |
probably benign |
Het |
Nme4 |
T |
C |
17: 26,313,196 (GRCm39) |
|
probably null |
Het |
Nup35 |
A |
G |
2: 80,483,318 (GRCm39) |
D172G |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
Phlpp1 |
T |
A |
1: 106,320,279 (GRCm39) |
S1425T |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
Pld2 |
A |
G |
11: 70,445,731 (GRCm39) |
N655S |
probably damaging |
Het |
Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
Ston2 |
T |
C |
12: 91,615,037 (GRCm39) |
Q457R |
possibly damaging |
Het |
Syt10 |
T |
C |
15: 89,698,741 (GRCm39) |
E201G |
probably benign |
Het |
Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
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 |
R1593:Wdr49
|
UTSW |
3 |
75,304,248 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
|
Posted On |
2017-04-14 |