Incidental Mutation 'R1329:Wdr47'
ID |
156109 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr47
|
Ensembl Gene |
ENSMUSG00000040389 |
Gene Name |
WD repeat domain 47 |
Synonyms |
nemitin, 1810073M12Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1329 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
108498595-108553035 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 108534615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 511
(N511K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051145]
|
AlphaFold |
Q8CGF6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051145
AA Change: N511K
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000057482 Gene: ENSMUSG00000040389 AA Change: N511K
Domain | Start | End | E-Value | Type |
LisH
|
10 |
42 |
8.87e-4 |
SMART |
CTLH
|
45 |
102 |
1.93e-13 |
SMART |
low complexity region
|
137 |
146 |
N/A |
INTRINSIC |
low complexity region
|
226 |
254 |
N/A |
INTRINSIC |
coiled coil region
|
414 |
455 |
N/A |
INTRINSIC |
low complexity region
|
506 |
523 |
N/A |
INTRINSIC |
WD40
|
597 |
635 |
7e-4 |
SMART |
WD40
|
648 |
690 |
5.18e-7 |
SMART |
WD40
|
698 |
742 |
2.28e2 |
SMART |
WD40
|
745 |
783 |
9.38e-5 |
SMART |
WD40
|
790 |
829 |
1.31e-3 |
SMART |
WD40
|
832 |
871 |
1.28e-6 |
SMART |
WD40
|
878 |
917 |
7.39e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123568
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133453
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144325
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197398
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot7 |
C |
T |
4: 152,314,241 (GRCm39) |
Q188* |
probably null |
Het |
Ano5 |
T |
C |
7: 51,196,533 (GRCm39) |
Y141H |
probably benign |
Het |
Atg101 |
G |
A |
15: 101,188,171 (GRCm39) |
G92D |
probably null |
Het |
Brwd1 |
A |
G |
16: 95,804,434 (GRCm39) |
I1912T |
probably benign |
Het |
Cad |
G |
T |
5: 31,216,926 (GRCm39) |
G263W |
probably damaging |
Het |
Clstn2 |
T |
C |
9: 97,340,227 (GRCm39) |
E715G |
probably damaging |
Het |
Cracd |
A |
G |
5: 76,805,779 (GRCm39) |
|
probably benign |
Het |
Dbp |
C |
T |
7: 45,357,752 (GRCm39) |
P70S |
probably damaging |
Het |
Fem1al |
T |
A |
11: 29,773,553 (GRCm39) |
N635Y |
probably benign |
Het |
Gpr61 |
T |
A |
3: 108,057,830 (GRCm39) |
H277L |
probably benign |
Het |
Gsdma3 |
G |
T |
11: 98,523,218 (GRCm39) |
V203F |
probably damaging |
Het |
Ifih1 |
G |
C |
2: 62,447,831 (GRCm39) |
|
probably null |
Het |
Myo1e |
T |
A |
9: 70,246,020 (GRCm39) |
C404S |
possibly damaging |
Het |
Myrfl |
A |
G |
10: 116,613,247 (GRCm39) |
|
probably null |
Het |
Nfat5 |
T |
G |
8: 108,095,659 (GRCm39) |
M1300R |
probably benign |
Het |
Nfrkb |
C |
T |
9: 31,325,943 (GRCm39) |
P1129S |
possibly damaging |
Het |
Nubp2 |
A |
T |
17: 25,102,838 (GRCm39) |
N208K |
possibly damaging |
Het |
Or8g20 |
A |
G |
9: 39,395,740 (GRCm39) |
S270P |
probably damaging |
Het |
Ovch2 |
T |
C |
7: 107,384,653 (GRCm39) |
D488G |
probably damaging |
Het |
Rfx6 |
A |
T |
10: 51,569,833 (GRCm39) |
Y202F |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Usp4 |
T |
A |
9: 108,249,765 (GRCm39) |
V431E |
probably damaging |
Het |
Vil1 |
A |
G |
1: 74,466,717 (GRCm39) |
I636V |
probably benign |
Het |
Vmn2r116 |
A |
G |
17: 23,606,162 (GRCm39) |
N358S |
possibly damaging |
Het |
Wdr5 |
T |
A |
2: 27,421,683 (GRCm39) |
F222I |
probably damaging |
Het |
|
Other mutations in Wdr47 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00576:Wdr47
|
APN |
3 |
108,526,050 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01730:Wdr47
|
APN |
3 |
108,518,712 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01821:Wdr47
|
APN |
3 |
108,534,520 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03367:Wdr47
|
APN |
3 |
108,537,089 (GRCm39) |
splice site |
probably benign |
|
R0025:Wdr47
|
UTSW |
3 |
108,545,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R0217:Wdr47
|
UTSW |
3 |
108,544,336 (GRCm39) |
missense |
probably damaging |
0.96 |
R0733:Wdr47
|
UTSW |
3 |
108,525,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R1330:Wdr47
|
UTSW |
3 |
108,537,069 (GRCm39) |
missense |
probably benign |
0.30 |
R1894:Wdr47
|
UTSW |
3 |
108,530,692 (GRCm39) |
missense |
possibly damaging |
0.56 |
R2004:Wdr47
|
UTSW |
3 |
108,534,758 (GRCm39) |
nonsense |
probably null |
|
R2040:Wdr47
|
UTSW |
3 |
108,530,688 (GRCm39) |
missense |
probably benign |
0.01 |
R2242:Wdr47
|
UTSW |
3 |
108,526,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R3795:Wdr47
|
UTSW |
3 |
108,532,053 (GRCm39) |
critical splice donor site |
probably null |
|
R5026:Wdr47
|
UTSW |
3 |
108,525,838 (GRCm39) |
nonsense |
probably null |
|
R5732:Wdr47
|
UTSW |
3 |
108,540,472 (GRCm39) |
nonsense |
probably null |
|
R5823:Wdr47
|
UTSW |
3 |
108,550,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R5838:Wdr47
|
UTSW |
3 |
108,532,052 (GRCm39) |
critical splice donor site |
probably null |
|
R5890:Wdr47
|
UTSW |
3 |
108,517,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R5896:Wdr47
|
UTSW |
3 |
108,526,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R5898:Wdr47
|
UTSW |
3 |
108,545,201 (GRCm39) |
splice site |
probably null |
|
R6778:Wdr47
|
UTSW |
3 |
108,540,412 (GRCm39) |
missense |
probably benign |
0.16 |
R7019:Wdr47
|
UTSW |
3 |
108,521,671 (GRCm39) |
nonsense |
probably null |
|
R7051:Wdr47
|
UTSW |
3 |
108,525,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R7535:Wdr47
|
UTSW |
3 |
108,537,027 (GRCm39) |
missense |
probably benign |
0.01 |
R7642:Wdr47
|
UTSW |
3 |
108,550,480 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7709:Wdr47
|
UTSW |
3 |
108,525,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R8048:Wdr47
|
UTSW |
3 |
108,526,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R8868:Wdr47
|
UTSW |
3 |
108,498,841 (GRCm39) |
start gained |
probably benign |
|
R8944:Wdr47
|
UTSW |
3 |
108,550,480 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9123:Wdr47
|
UTSW |
3 |
108,526,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R9125:Wdr47
|
UTSW |
3 |
108,526,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R9217:Wdr47
|
UTSW |
3 |
108,525,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R9268:Wdr47
|
UTSW |
3 |
108,525,812 (GRCm39) |
missense |
probably benign |
|
R9485:Wdr47
|
UTSW |
3 |
108,544,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R9611:Wdr47
|
UTSW |
3 |
108,518,729 (GRCm39) |
missense |
probably damaging |
1.00 |
X0062:Wdr47
|
UTSW |
3 |
108,526,374 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Wdr47
|
UTSW |
3 |
108,526,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCCGTGAGAGTGGCAAATGATAG -3'
(R):5'- CTGGCTTCCACAAGGTGAGTCTTC -3'
Sequencing Primer
(F):5'- AAACCTGTCTCCTTTACAGTGTG -3'
(R):5'- CATGAAAAGGGATGTGATTCGTTG -3'
|
Posted On |
2014-02-11 |