Incidental Mutation 'R1341:Wdr49'
| ID |
157029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr49
|
| Ensembl Gene |
ENSMUSG00000104301 |
| Gene Name |
WD repeat domain 49 |
| Synonyms |
EG213248 |
| MMRRC Submission |
039406-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R1341 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
75182295-75389463 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75336640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 356
(F356I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000193989]
[ENSMUST00000203169]
[ENSMUST00000204341]
|
| AlphaFold |
A0A0N4SUK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178270
AA Change: F356I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137584
Gene: ENSMUSG00000095162
AA Change: F356I
| 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 |
probably damaging
Transcript: ENSMUST00000193989
AA Change: F78I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144721
Gene: ENSMUSG00000104301
AA Change: F78I
| 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 damaging
Transcript: ENSMUST00000203169
AA Change: F419I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144789
Gene: ENSMUSG00000104301
AA Change: F419I
| 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 damaging
Transcript: ENSMUST00000204341
AA Change: F356I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145379
Gene: ENSMUSG00000104301
AA Change: F356I
| 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 |
|
| Meta Mutation Damage Score |
0.4118 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.9%
|
| Validation Efficiency |
96% (53/55) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v0e2 |
A |
G |
6: 48,517,045 (GRCm39) |
Y75C |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,096,393 (GRCm39) |
|
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,324,582 (GRCm39) |
L1190P |
probably damaging |
Het |
| Ccdc190 |
A |
G |
1: 169,757,586 (GRCm39) |
D15G |
probably damaging |
Het |
| Cep126 |
G |
T |
9: 8,099,777 (GRCm39) |
P919Q |
possibly damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,660,131 (GRCm39) |
T665S |
probably damaging |
Het |
| Chchd6 |
A |
G |
6: 89,361,623 (GRCm39) |
V260A |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,196,514 (GRCm39) |
K867E |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,168,602 (GRCm39) |
N440K |
probably benign |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gm17421 |
A |
T |
12: 113,333,334 (GRCm39) |
|
noncoding transcript |
Het |
| H2bc13 |
T |
C |
13: 21,900,280 (GRCm39) |
K12E |
probably benign |
Het |
| Hdac3 |
A |
G |
18: 38,087,766 (GRCm39) |
V36A |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Itga10 |
G |
A |
3: 96,559,811 (GRCm39) |
E489K |
probably damaging |
Het |
| Mgat5b |
A |
C |
11: 116,869,223 (GRCm39) |
I589L |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,232,601 (GRCm39) |
N348S |
probably benign |
Het |
| Mmp15 |
A |
G |
8: 96,098,931 (GRCm39) |
D586G |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,791,247 (GRCm39) |
D139G |
probably damaging |
Het |
| Morc2a |
C |
A |
11: 3,630,216 (GRCm39) |
L471I |
possibly damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,536,303 (GRCm39) |
|
probably benign |
Het |
| Mylip |
T |
A |
13: 45,559,412 (GRCm39) |
S105T |
probably damaging |
Het |
| Nat8f4 |
A |
T |
6: 85,878,406 (GRCm39) |
L39Q |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,920,198 (GRCm39) |
|
probably benign |
Het |
| Or10ak13 |
T |
C |
4: 118,639,579 (GRCm39) |
T68A |
probably benign |
Het |
| Or11m3 |
G |
A |
15: 98,396,135 (GRCm39) |
V261M |
possibly damaging |
Het |
| Or51k2 |
T |
A |
7: 103,596,589 (GRCm39) |
V272D |
possibly damaging |
Het |
| Or5t7 |
T |
C |
2: 86,507,507 (GRCm39) |
M57V |
possibly damaging |
Het |
| Or9k2 |
G |
T |
10: 129,999,185 (GRCm39) |
D3E |
probably benign |
Het |
| Pramel29 |
T |
C |
4: 143,934,129 (GRCm39) |
D326G |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Rab11fip1 |
G |
T |
8: 27,633,388 (GRCm39) |
A1106E |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,448,537 (GRCm39) |
S363P |
probably damaging |
Het |
| Skint10 |
A |
G |
4: 112,622,228 (GRCm39) |
|
probably benign |
Het |
| Spen |
T |
C |
4: 141,196,711 (GRCm39) |
N3595D |
possibly damaging |
Het |
| Swsap1 |
A |
G |
9: 21,868,450 (GRCm39) |
K241E |
probably benign |
Het |
| Tab1 |
A |
G |
15: 80,044,315 (GRCm39) |
T448A |
possibly damaging |
Het |
| Tktl1 |
G |
T |
X: 73,241,289 (GRCm39) |
G302V |
probably damaging |
Het |
| Usp25 |
A |
G |
16: 76,912,331 (GRCm39) |
T1017A |
probably benign |
Het |
| Vmn2r78 |
T |
A |
7: 86,571,477 (GRCm39) |
M429K |
possibly damaging |
Het |
| Wnt1 |
T |
C |
15: 98,689,764 (GRCm39) |
F184L |
probably damaging |
Het |
| Yy1 |
T |
C |
12: 108,759,445 (GRCm39) |
I36T |
unknown |
Het |
| Zbtb39 |
A |
G |
10: 127,579,369 (GRCm39) |
I648V |
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 |
|
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 |
|
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'- ACTTAGCCAGTTTGCATGAACAAGTGA -3'
(R):5'- GCTTGGTCTTGAAATGGTCCCTGAA -3'
Sequencing Primer
(F):5'- GCATGAACAAGTGATATCTCTCAG -3'
(R):5'- TCCCTGTGTCCCAGAGATAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation