Incidental Mutation 'R1330:Wdr47'
| ID |
156137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr47
|
| Ensembl Gene |
ENSMUSG00000040389 |
| Gene Name |
WD repeat domain 47 |
| Synonyms |
nemitin, 1810073M12Rik |
| MMRRC Submission |
039395-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1330 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108498595-108553035 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108537069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 586
(S586P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051145]
|
| AlphaFold |
Q8CGF6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051145
AA Change: S586P
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000057482
Gene: ENSMUSG00000040389
AA Change: S586P
| 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: ENSMUST00000133453
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197398
|
| Meta Mutation Damage Score |
0.0758 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.2%
- 10x: 92.6%
- 20x: 82.0%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
T |
C |
7: 42,097,018 (GRCm39) |
T98A |
probably benign |
Het |
| Adgre4 |
T |
A |
17: 56,085,814 (GRCm39) |
C38S |
probably benign |
Het |
| Adgrf3 |
T |
A |
5: 30,400,093 (GRCm39) |
T83S |
probably benign |
Het |
| Arhgef40 |
T |
C |
14: 52,227,613 (GRCm39) |
V453A |
probably benign |
Het |
| Art4 |
A |
T |
6: 136,831,339 (GRCm39) |
|
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,882,081 (GRCm39) |
K1177R |
possibly damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Ddx6 |
T |
C |
9: 44,539,070 (GRCm39) |
|
probably benign |
Het |
| Dolk |
A |
T |
2: 30,175,112 (GRCm39) |
V311E |
probably damaging |
Het |
| Dstyk |
A |
G |
1: 132,377,618 (GRCm39) |
N408S |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,637,116 (GRCm39) |
Y1049C |
possibly damaging |
Het |
| Eva1c |
A |
C |
16: 90,701,284 (GRCm39) |
E318D |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,395,468 (GRCm39) |
W1832R |
probably damaging |
Het |
| Jup |
A |
T |
11: 100,263,502 (GRCm39) |
I689N |
probably benign |
Het |
| Kcnh7 |
A |
G |
2: 62,607,755 (GRCm39) |
S609P |
possibly damaging |
Het |
| Lrch4 |
G |
A |
5: 137,636,051 (GRCm39) |
R368Q |
probably damaging |
Het |
| Ncbp1 |
G |
A |
4: 46,167,354 (GRCm39) |
V586M |
probably benign |
Het |
| Ncstn |
C |
T |
1: 171,899,092 (GRCm39) |
M346I |
probably damaging |
Het |
| Osbpl1a |
A |
G |
18: 13,015,251 (GRCm39) |
|
probably null |
Het |
| Pcdh12 |
A |
G |
18: 38,414,914 (GRCm39) |
V737A |
probably benign |
Het |
| Pds5b |
T |
A |
5: 150,684,542 (GRCm39) |
M600K |
probably damaging |
Het |
| Rbm25 |
A |
G |
12: 83,724,666 (GRCm39) |
D805G |
probably damaging |
Het |
| Rfx7 |
C |
T |
9: 72,524,547 (GRCm39) |
T579I |
probably benign |
Het |
| Rhod |
C |
A |
19: 4,476,182 (GRCm39) |
A190S |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Slc22a2 |
A |
C |
17: 12,805,699 (GRCm39) |
D150A |
possibly damaging |
Het |
| Spink11 |
A |
G |
18: 44,329,195 (GRCm39) |
I17T |
unknown |
Het |
| Tas1r2 |
A |
G |
4: 139,396,640 (GRCm39) |
I660V |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,637,051 (GRCm39) |
P720L |
probably damaging |
Het |
| Vmn1r1 |
A |
T |
1: 181,985,572 (GRCm39) |
L31H |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,718,963 (GRCm39) |
L772P |
probably damaging |
Het |
| Wap |
T |
C |
11: 6,586,818 (GRCm39) |
T94A |
unknown |
Het |
| Zfp318 |
A |
G |
17: 46,724,684 (GRCm39) |
Y2229C |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,544,262 (GRCm39) |
|
probably null |
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 |
|
R1329:Wdr47
|
UTSW |
3 |
108,534,615 (GRCm39) |
missense |
probably benign |
0.14 |
|
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'- AAGCCGAGGAAAAGTTCTCCCTCC -3'
(R):5'- GCTCTTCACGGTTGCCAGAATTGTC -3'
Sequencing Primer
(F):5'- GCCCTTAAGTGGCTCCATATAGTAG -3'
(R):5'- gtagtggcacacacctttaatc -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation