Incidental Mutation 'R6501:Wdr49'
| ID |
519719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr49
|
| Ensembl Gene |
ENSMUSG00000104301 |
| Gene Name |
WD repeat domain 49 |
| Synonyms |
EG213248 |
| MMRRC Submission |
044633-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6501 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
75182295-75389463 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75246765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 289
(H289L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000193989]
|
| AlphaFold |
A0A0N4SUK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193989
AA Change: H289L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000144721
Gene: ENSMUSG00000104301
AA Change: H289L
| 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: 94.1%
|
| Validation Efficiency |
100% (48/48) |
| 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 |
|---|
| Abhd8 |
A |
T |
8: 71,914,165 (GRCm39) |
C154* |
probably null |
Het |
| Ada |
A |
G |
2: 163,570,108 (GRCm39) |
|
probably null |
Het |
| Birc6 |
G |
A |
17: 74,886,276 (GRCm39) |
V535I |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,968,509 (GRCm39) |
N1058S |
probably null |
Het |
| Cdadc1 |
C |
T |
14: 59,823,898 (GRCm39) |
C198Y |
probably benign |
Het |
| Chrna7 |
G |
A |
7: 62,755,863 (GRCm39) |
R228C |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,344,149 (GRCm39) |
N301S |
probably damaging |
Het |
| Cts8 |
T |
A |
13: 61,398,756 (GRCm39) |
D250V |
probably damaging |
Het |
| Cyp26a1 |
G |
T |
19: 37,687,518 (GRCm39) |
R235L |
possibly damaging |
Het |
| Disc1 |
A |
T |
8: 125,944,844 (GRCm39) |
M598L |
probably benign |
Het |
| Ear6 |
T |
A |
14: 52,091,681 (GRCm39) |
V76D |
possibly damaging |
Het |
| Grifin |
A |
G |
5: 140,549,036 (GRCm39) |
*145R |
probably null |
Het |
| Htr2b |
T |
G |
1: 86,038,363 (GRCm39) |
E11A |
probably damaging |
Het |
| Krtap4-9 |
T |
A |
11: 99,676,255 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
A |
C |
13: 9,218,829 (GRCm39) |
H522P |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,363,425 (GRCm39) |
|
probably null |
Het |
| Mdfic |
T |
C |
6: 15,770,516 (GRCm39) |
L174P |
possibly damaging |
Het |
| Mmp17 |
A |
G |
5: 129,683,469 (GRCm39) |
E535G |
probably benign |
Het |
| Nfxl1 |
A |
T |
5: 72,685,852 (GRCm39) |
|
probably null |
Het |
| Nynrin |
A |
T |
14: 56,100,989 (GRCm39) |
T260S |
probably benign |
Het |
| Or4k44 |
C |
T |
2: 111,368,124 (GRCm39) |
G170D |
probably damaging |
Het |
| Or7e168 |
A |
T |
9: 19,720,271 (GRCm39) |
Y219F |
possibly damaging |
Het |
| Or8b1c |
A |
T |
9: 38,384,585 (GRCm39) |
I181F |
possibly damaging |
Het |
| Pbx1 |
G |
T |
1: 168,037,103 (GRCm39) |
D109E |
probably damaging |
Het |
| Pde4d |
A |
T |
13: 109,253,476 (GRCm39) |
H101L |
probably benign |
Het |
| Pdlim3 |
T |
C |
8: 46,361,639 (GRCm39) |
I155T |
possibly damaging |
Het |
| Plekha5 |
T |
A |
6: 140,471,655 (GRCm39) |
Y26* |
probably null |
Het |
| Prpf6 |
T |
A |
2: 181,263,713 (GRCm39) |
L191* |
probably null |
Het |
| Rabl6 |
A |
G |
2: 25,492,459 (GRCm39) |
V80A |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,381,503 (GRCm39) |
|
probably benign |
Het |
| Sec14l1 |
A |
G |
11: 117,047,676 (GRCm39) |
S698G |
probably damaging |
Het |
| Skic2 |
A |
G |
17: 35,063,412 (GRCm39) |
S622P |
possibly damaging |
Het |
| Slc19a1 |
G |
A |
10: 76,885,440 (GRCm39) |
G447S |
probably benign |
Het |
| Slc2a6 |
A |
T |
2: 26,913,143 (GRCm39) |
Y383* |
probably null |
Het |
| Slc9a9 |
C |
A |
9: 94,818,424 (GRCm39) |
Q273K |
probably benign |
Het |
| Spint2 |
A |
G |
7: 28,963,131 (GRCm39) |
Y56H |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,472,146 (GRCm39) |
M123K |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,074,621 (GRCm39) |
|
probably null |
Het |
| Trdn |
A |
C |
10: 33,342,450 (GRCm39) |
K619N |
probably benign |
Het |
| Ttll13 |
A |
G |
7: 79,899,924 (GRCm39) |
T119A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,615,990 (GRCm39) |
Y8324C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,728,602 (GRCm39) |
|
probably benign |
Het |
| Vav2 |
A |
G |
2: 27,186,231 (GRCm39) |
L208P |
probably damaging |
Het |
| Vmn1r179 |
A |
G |
7: 23,628,342 (GRCm39) |
I178V |
probably benign |
Het |
| Vmn1r210 |
T |
C |
13: 23,011,705 (GRCm39) |
M194V |
possibly damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,032,166 (GRCm39) |
T647S |
probably benign |
Het |
| Wnk2 |
T |
G |
13: 49,300,159 (GRCm39) |
K184Q |
probably damaging |
Het |
| Zfp758 |
A |
G |
17: 22,590,978 (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 |
|
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 |
|
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'- AGGAGTTGTAATACTGCTTCCTTTG -3'
(R):5'- AGCATTTTAAAGAGACTGCAGC -3'
Sequencing Primer
(F):5'- TGTAATACTGCTTCCTTTGGAAATC -3'
(R):5'- AAATAAAATTCTGGGCGGTAGTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation