Incidental Mutation 'R9374:Wdr49'
ID |
709483 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr49
|
Ensembl Gene |
ENSMUSG00000104301 |
Gene Name |
WD repeat domain 49 |
Synonyms |
EG213248 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R9374 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
75182295-75389463 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75230931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 577
(D577G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144721
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000193989]
|
AlphaFold |
A0A0N4SUK7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000193989
AA Change: D577G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000144721 Gene: ENSMUSG00000104301 AA Change: D577G
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap21 |
A |
T |
2: 20,886,397 (GRCm39) |
V270E |
probably damaging |
Het |
Blvrb |
A |
G |
7: 27,158,786 (GRCm39) |
D62G |
probably benign |
Het |
Ccdc68 |
T |
A |
18: 70,089,113 (GRCm39) |
S219T |
probably damaging |
Het |
Celf2 |
G |
A |
2: 6,590,886 (GRCm39) |
T303I |
possibly damaging |
Het |
Cep290 |
T |
C |
10: 100,372,729 (GRCm39) |
S1176P |
probably damaging |
Het |
Cpeb2 |
C |
A |
5: 43,391,584 (GRCm39) |
S260* |
probably null |
Het |
Dscam |
A |
T |
16: 96,857,857 (GRCm39) |
I51N |
probably benign |
Het |
Erbb4 |
G |
A |
1: 68,779,642 (GRCm39) |
Q45* |
probably null |
Het |
Fam124a |
T |
G |
14: 62,843,988 (GRCm39) |
S499A |
possibly damaging |
Het |
Hipk3 |
T |
C |
2: 104,301,850 (GRCm39) |
N114S |
probably benign |
Het |
Hnrnph3 |
T |
C |
10: 62,853,957 (GRCm39) |
M54V |
probably benign |
Het |
Map7d1 |
T |
C |
4: 126,127,429 (GRCm39) |
E720G |
unknown |
Het |
Mark2 |
G |
T |
19: 7,263,263 (GRCm39) |
T201N |
possibly damaging |
Het |
Mef2c |
A |
G |
13: 83,810,461 (GRCm39) |
N371S |
probably benign |
Het |
Mgst3 |
T |
C |
1: 167,205,871 (GRCm39) |
Y36C |
probably damaging |
Het |
Mtor |
C |
T |
4: 148,599,397 (GRCm39) |
R1482C |
probably damaging |
Het |
Ndst1 |
G |
T |
18: 60,845,931 (GRCm39) |
T126K |
probably damaging |
Het |
Nkain3 |
C |
A |
4: 20,778,431 (GRCm39) |
|
probably benign |
Het |
Obscn |
T |
C |
11: 58,922,787 (GRCm39) |
I5850V |
possibly damaging |
Het |
Or11g1 |
C |
T |
14: 50,651,625 (GRCm39) |
S208F |
probably benign |
Het |
Or5d14 |
C |
T |
2: 87,880,509 (GRCm39) |
W153* |
probably null |
Het |
Or6k4 |
A |
T |
1: 173,964,885 (GRCm39) |
T192S |
probably benign |
Het |
Pbx1 |
T |
C |
1: 168,258,910 (GRCm39) |
D55G |
possibly damaging |
Het |
Pi4ka |
T |
C |
16: 17,125,574 (GRCm39) |
E1187G |
|
Het |
Pkn1 |
A |
T |
8: 84,404,367 (GRCm39) |
N543K |
probably benign |
Het |
Plin1 |
T |
C |
7: 79,372,544 (GRCm39) |
N343D |
probably benign |
Het |
Prpf4 |
T |
C |
4: 62,336,131 (GRCm39) |
V286A |
probably benign |
Het |
Pyroxd2 |
A |
G |
19: 42,719,756 (GRCm39) |
|
probably null |
Het |
Rbpms |
A |
G |
8: 34,294,173 (GRCm39) |
F190S |
possibly damaging |
Het |
Rpl10a |
T |
A |
17: 28,548,006 (GRCm39) |
F49Y |
possibly damaging |
Het |
Slc32a1 |
A |
G |
2: 158,455,995 (GRCm39) |
T217A |
probably damaging |
Het |
Slco6c1 |
T |
C |
1: 97,055,827 (GRCm39) |
S25G |
probably benign |
Het |
Slitrk5 |
C |
T |
14: 111,916,496 (GRCm39) |
T40I |
probably benign |
Het |
Smchd1 |
T |
C |
17: 71,718,843 (GRCm39) |
N842S |
possibly damaging |
Het |
Sorbs1 |
G |
A |
19: 40,361,923 (GRCm39) |
R154* |
probably null |
Het |
Stc2 |
A |
G |
11: 31,310,332 (GRCm39) |
S235P |
probably benign |
Het |
Tcaf2 |
C |
T |
6: 42,619,728 (GRCm39) |
A100T |
probably benign |
Het |
Tcerg1l |
T |
C |
7: 137,995,998 (GRCm39) |
D170G |
possibly damaging |
Het |
Tcf15 |
T |
C |
2: 151,986,039 (GRCm39) |
L165P |
probably damaging |
Het |
Tle5 |
T |
C |
10: 81,399,988 (GRCm39) |
V62A |
probably damaging |
Het |
Tmem200c |
G |
T |
17: 69,148,682 (GRCm39) |
G422W |
probably damaging |
Het |
Tnfsf13b |
A |
G |
8: 10,085,391 (GRCm39) |
I294V |
possibly damaging |
Het |
Tns3 |
T |
A |
11: 8,442,606 (GRCm39) |
T586S |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,629,460 (GRCm39) |
E1319V |
possibly damaging |
Het |
Vegfc |
A |
G |
8: 54,622,180 (GRCm39) |
I221V |
possibly damaging |
Het |
Vmn1r86 |
A |
T |
7: 12,836,781 (GRCm39) |
Y32N |
possibly damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,787,859 (GRCm39) |
L497F |
probably benign |
Het |
Xpo4 |
A |
G |
14: 57,828,512 (GRCm39) |
F783L |
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 |
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 |
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 |
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'- GAGAGGGACAATTTCTCATAGTTTG -3'
(R):5'- TTCCATTTTAGGCAAGCCACTGG -3'
Sequencing Primer
(F):5'- TTGTCAGGGCATCCTTGACAGAC -3'
(R):5'- TTAGGCAAGCCACTGGAATATTG -3'
|
Posted On |
2022-04-18 |