Incidental Mutation 'R6584:Wdr49'
| ID |
524264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr49
|
| Ensembl Gene |
ENSMUSG00000104301 |
| Gene Name |
WD repeat domain 49 |
| Synonyms |
EG213248 |
| MMRRC Submission |
044708-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6584 (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 75245065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 339
(M339V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000193989]
|
| AlphaFold |
A0A0N4SUK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193989
AA Change: M339V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000144721
Gene: ENSMUSG00000104301
AA Change: M339V
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agr2 |
G |
A |
12: 36,045,625 (GRCm39) |
R37Q |
probably benign |
Het |
| Amfr |
T |
C |
8: 94,700,783 (GRCm39) |
D559G |
probably benign |
Het |
| Atg2b |
T |
C |
12: 105,624,254 (GRCm39) |
Y711C |
probably damaging |
Het |
| Brd10 |
T |
C |
19: 29,696,128 (GRCm39) |
N1122D |
possibly damaging |
Het |
| Clgn |
T |
C |
8: 84,126,665 (GRCm39) |
I122T |
probably benign |
Het |
| Ets1 |
T |
A |
9: 32,645,293 (GRCm39) |
F180Y |
probably damaging |
Het |
| Fbxw14 |
C |
G |
9: 109,115,611 (GRCm39) |
C53S |
possibly damaging |
Het |
| Ifna9 |
A |
G |
4: 88,510,375 (GRCm39) |
L83P |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,920,137 (GRCm39) |
C1401R |
probably damaging |
Het |
| Il22 |
A |
T |
10: 118,040,932 (GRCm39) |
M13L |
probably benign |
Het |
| Il9r |
A |
G |
11: 32,141,782 (GRCm39) |
Y319H |
probably benign |
Het |
| Itgb5 |
T |
C |
16: 33,705,400 (GRCm39) |
F230S |
probably damaging |
Het |
| Klk1b27 |
T |
A |
7: 43,703,935 (GRCm39) |
I26N |
possibly damaging |
Het |
| Lrba |
C |
T |
3: 86,571,883 (GRCm39) |
R300C |
probably damaging |
Het |
| Map3k4 |
A |
C |
17: 12,479,378 (GRCm39) |
Y730D |
probably damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Paxip1 |
G |
A |
5: 27,963,450 (GRCm39) |
H792Y |
probably damaging |
Het |
| Phf20 |
T |
C |
2: 156,136,043 (GRCm39) |
S621P |
probably damaging |
Het |
| Pramel22 |
T |
A |
4: 143,382,040 (GRCm39) |
T219S |
possibly damaging |
Het |
| Slitrk3 |
C |
A |
3: 72,956,558 (GRCm39) |
G738V |
probably damaging |
Het |
| Smurf1 |
T |
C |
5: 144,819,333 (GRCm39) |
D598G |
probably damaging |
Het |
| St6galnac2 |
A |
G |
11: 116,585,330 (GRCm39) |
S19P |
probably benign |
Het |
| Stra6l |
G |
A |
4: 45,869,635 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
C |
A |
8: 83,987,629 (GRCm39) |
Q863K |
probably damaging |
Het |
| Traf1 |
T |
A |
2: 34,848,070 (GRCm39) |
D8V |
probably damaging |
Het |
| Vmn2r24 |
T |
G |
6: 123,792,764 (GRCm39) |
M697R |
possibly damaging |
Het |
| Wdr27 |
T |
A |
17: 15,122,031 (GRCm39) |
Y625F |
probably 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 |
|
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'- TTGATGATCCTCTCAATCACTGTG -3'
(R):5'- AGCTATCCACCAAATATGTGGGTTAC -3'
Sequencing Primer
(F):5'- GATCCTCTCAATCACTGTGATAAGC -3'
(R):5'- TGCTTCCAAAATTAGAGAAAACCTAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation