Incidental Mutation 'R1526:Wdr49'
| ID |
167419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr49
|
| Ensembl Gene |
ENSMUSG00000104301 |
| Gene Name |
WD repeat domain 49 |
| Synonyms |
EG213248 |
| MMRRC Submission |
039566-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R1526 (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 A
at 75304227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 494
(K494M)
|
| 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: K431M
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000137584
Gene: ENSMUSG00000095162
AA Change: K431M
| 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: K153M
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000144721
Gene: ENSMUSG00000104301
AA Change: K153M
| 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: K494M
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000144789
Gene: ENSMUSG00000104301
AA Change: K494M
| 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: K431M
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000145379
Gene: ENSMUSG00000104301
AA Change: K431M
| 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: 95.7%
- 20x: 90.8%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap2 |
G |
T |
12: 21,235,188 (GRCm39) |
A97S |
probably damaging |
Het |
| Brd10 |
T |
C |
19: 29,712,545 (GRCm39) |
K785E |
probably damaging |
Het |
| C1qtnf1 |
A |
T |
11: 118,334,616 (GRCm39) |
E32V |
possibly damaging |
Het |
| Ccdc81 |
A |
G |
7: 89,525,081 (GRCm39) |
L500P |
probably damaging |
Het |
| Cdo1 |
T |
C |
18: 46,861,130 (GRCm39) |
E27G |
probably benign |
Het |
| Ceacam5 |
G |
A |
7: 17,484,620 (GRCm39) |
G454D |
probably damaging |
Het |
| Cemip |
T |
C |
7: 83,600,648 (GRCm39) |
D991G |
probably damaging |
Het |
| Cep170 |
A |
C |
1: 176,616,071 (GRCm39) |
I79S |
probably damaging |
Het |
| Cep19 |
A |
G |
16: 31,926,039 (GRCm39) |
Q149R |
possibly damaging |
Het |
| Cideb |
A |
T |
14: 55,992,619 (GRCm39) |
L99* |
probably null |
Het |
| Cntnap5a |
A |
G |
1: 116,356,207 (GRCm39) |
N746S |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,564,080 (GRCm39) |
N1715S |
probably benign |
Het |
| Col3a1 |
T |
C |
1: 45,360,848 (GRCm39) |
S93P |
unknown |
Het |
| Csmd3 |
C |
A |
15: 47,449,028 (GRCm39) |
|
probably null |
Het |
| Disp3 |
T |
C |
4: 148,344,373 (GRCm39) |
I510V |
probably benign |
Het |
| Drosha |
T |
A |
15: 12,914,070 (GRCm39) |
V1115E |
probably damaging |
Het |
| Dzip3 |
A |
C |
16: 48,757,369 (GRCm39) |
L888R |
probably damaging |
Het |
| Emx2 |
C |
A |
19: 59,452,442 (GRCm39) |
A242E |
probably benign |
Het |
| Fto |
G |
A |
8: 92,168,314 (GRCm39) |
E256K |
possibly damaging |
Het |
| Gabrb2 |
A |
C |
11: 42,482,715 (GRCm39) |
Y191S |
possibly damaging |
Het |
| Gm6526 |
A |
T |
14: 43,987,394 (GRCm39) |
H110L |
probably damaging |
Het |
| Grin3b |
T |
A |
10: 79,810,436 (GRCm39) |
N647K |
probably damaging |
Het |
| Ifit2 |
T |
G |
19: 34,550,602 (GRCm39) |
S47R |
probably benign |
Het |
| Il5ra |
A |
T |
6: 106,712,781 (GRCm39) |
V244E |
possibly damaging |
Het |
| Inppl1 |
A |
G |
7: 101,482,153 (GRCm39) |
L141P |
probably benign |
Het |
| Iws1 |
A |
G |
18: 32,213,178 (GRCm39) |
D202G |
probably benign |
Het |
| Kctd4 |
A |
C |
14: 76,200,523 (GRCm39) |
I165L |
probably benign |
Het |
| Lrch3 |
G |
A |
16: 32,770,746 (GRCm39) |
C116Y |
probably damaging |
Het |
| Mettl25 |
T |
C |
10: 105,668,844 (GRCm39) |
T93A |
possibly damaging |
Het |
| Mgat4d |
A |
G |
8: 84,095,666 (GRCm39) |
I314V |
probably benign |
Het |
| Mrgprb4 |
A |
T |
7: 47,848,159 (GRCm39) |
Y256* |
probably null |
Het |
| Myo9b |
G |
T |
8: 71,808,408 (GRCm39) |
V1672L |
probably damaging |
Het |
| Nek1 |
C |
T |
8: 61,502,975 (GRCm39) |
P449L |
probably benign |
Het |
| Nucb2 |
G |
A |
7: 116,123,642 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 58,919,412 (GRCm39) |
Y6864C |
probably damaging |
Het |
| Omt2b |
A |
T |
9: 78,235,420 (GRCm39) |
|
probably benign |
Het |
| Or2y3 |
T |
A |
17: 38,393,486 (GRCm39) |
I128F |
probably damaging |
Het |
| Or4p18 |
C |
T |
2: 88,232,777 (GRCm39) |
C167Y |
probably damaging |
Het |
| Or5ac15 |
G |
A |
16: 58,940,293 (GRCm39) |
L47F |
probably damaging |
Het |
| Or6c208 |
A |
G |
10: 129,224,176 (GRCm39) |
K225E |
probably benign |
Het |
| Otogl |
G |
T |
10: 107,705,387 (GRCm39) |
P647T |
probably damaging |
Het |
| Oxnad1 |
A |
G |
14: 31,824,244 (GRCm39) |
D271G |
probably benign |
Het |
| Pbx3 |
T |
C |
2: 34,261,776 (GRCm39) |
I53V |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,639,865 (GRCm39) |
|
probably null |
Het |
| Ppp4r3a |
A |
T |
12: 101,007,000 (GRCm39) |
D810E |
probably damaging |
Het |
| Ptpro |
A |
T |
6: 137,438,724 (GRCm39) |
D1189V |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,492,002 (GRCm39) |
N3758S |
probably damaging |
Het |
| Scarb2 |
G |
A |
5: 92,594,200 (GRCm39) |
T454M |
possibly damaging |
Het |
| Sec23a |
A |
C |
12: 59,032,972 (GRCm39) |
|
probably null |
Het |
| Spire2 |
C |
T |
8: 124,095,502 (GRCm39) |
A535V |
probably benign |
Het |
| Svopl |
A |
T |
6: 38,006,570 (GRCm39) |
F142L |
probably benign |
Het |
| Tas2r144 |
T |
C |
6: 42,192,674 (GRCm39) |
I138T |
probably benign |
Het |
| Tbc1d15 |
A |
G |
10: 115,039,135 (GRCm39) |
M535T |
probably benign |
Het |
| Tnfaip1 |
C |
T |
11: 78,420,971 (GRCm39) |
V30M |
possibly damaging |
Het |
| Topaz1 |
T |
A |
9: 122,625,108 (GRCm39) |
W1398R |
probably damaging |
Het |
| Tpo |
A |
G |
12: 30,134,694 (GRCm39) |
S755P |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,606,460 (GRCm39) |
S18116R |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,571,465 (GRCm39) |
|
probably null |
Het |
| Yeats2 |
A |
G |
16: 20,024,836 (GRCm39) |
M697V |
probably damaging |
Het |
| Zfp407 |
G |
A |
18: 84,579,158 (GRCm39) |
P652S |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,009,002 (GRCm39) |
M323V |
probably benign |
Het |
| Zfp629 |
G |
T |
7: 127,209,931 (GRCm39) |
P626Q |
possibly damaging |
Het |
| Zfp804a |
A |
T |
2: 82,088,532 (GRCm39) |
Y787F |
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 |
|
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 |
|
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'- GCCCGTGTGCTTTTACTAGTTTCACC -3'
(R):5'- TTCAGCATCAACTGTCCATTCAAAGGA -3'
Sequencing Primer
(F):5'- acatccatcactttactaaaccaac -3'
(R):5'- CTGTCCATTCAAAGGATAACCTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation