Incidental Mutation 'IGL00576:Wdr47'
ID |
6778 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00576
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
108498595-108553035 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 108526050 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 191
(N191S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051145]
[ENSMUST00000124731]
|
AlphaFold |
Q8CGF6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051145
AA Change: N191S
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000057482 Gene: ENSMUSG00000040389 AA Change: N191S
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 |
probably benign
Transcript: ENSMUST00000124731
|
SMART Domains |
Protein: ENSMUSP00000143335 Gene: ENSMUSG00000040389
Domain | Start | End | E-Value | Type |
LisH
|
10 |
42 |
2.7e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133453
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139626
|
SMART Domains |
Protein: ENSMUSP00000120676 Gene: ENSMUSG00000040389
Domain | Start | End | E-Value | Type |
LisH
|
10 |
42 |
8.87e-4 |
SMART |
CTLH
|
45 |
102 |
1.93e-13 |
SMART |
transmembrane domain
|
112 |
129 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197398
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak8 |
T |
C |
2: 28,632,729 (GRCm39) |
L316P |
probably damaging |
Het |
Ampd3 |
C |
T |
7: 110,388,028 (GRCm39) |
|
probably benign |
Het |
Arhgap42 |
C |
A |
9: 8,997,621 (GRCm39) |
E835* |
probably null |
Het |
Arid2 |
G |
A |
15: 96,254,639 (GRCm39) |
V162M |
probably damaging |
Het |
Atp2a2 |
C |
T |
5: 122,596,146 (GRCm39) |
|
probably null |
Het |
Bmper |
A |
G |
9: 23,317,899 (GRCm39) |
D506G |
probably damaging |
Het |
Clca4b |
A |
G |
3: 144,631,108 (GRCm39) |
F251L |
probably damaging |
Het |
Col12a1 |
T |
C |
9: 79,554,934 (GRCm39) |
D2048G |
probably damaging |
Het |
Dnhd1 |
G |
A |
7: 105,341,882 (GRCm39) |
S1227N |
probably damaging |
Het |
Dpp8 |
T |
A |
9: 64,951,111 (GRCm39) |
H182Q |
probably benign |
Het |
Drosha |
A |
G |
15: 12,883,280 (GRCm39) |
K798E |
probably damaging |
Het |
Gbp8 |
A |
G |
5: 105,165,754 (GRCm39) |
|
probably benign |
Het |
Hectd1 |
A |
G |
12: 51,806,092 (GRCm39) |
I1843T |
probably damaging |
Het |
Kansl1l |
T |
C |
1: 66,763,733 (GRCm39) |
N772S |
possibly damaging |
Het |
Lrrc37 |
A |
G |
11: 103,508,212 (GRCm39) |
|
probably benign |
Het |
Ndst2 |
T |
C |
14: 20,774,552 (GRCm39) |
R835G |
probably benign |
Het |
Psme4 |
T |
C |
11: 30,773,145 (GRCm39) |
V836A |
possibly damaging |
Het |
Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
Reln |
T |
C |
5: 22,359,948 (GRCm39) |
H192R |
probably benign |
Het |
Tcf20 |
A |
G |
15: 82,740,276 (GRCm39) |
F392L |
probably damaging |
Het |
Ttc21a |
T |
C |
9: 119,794,885 (GRCm39) |
F1024L |
probably damaging |
Het |
Vezf1 |
T |
A |
11: 87,964,470 (GRCm39) |
C19* |
probably null |
Het |
Zfp7 |
T |
G |
15: 76,775,101 (GRCm39) |
|
probably benign |
Het |
Zfp933 |
A |
T |
4: 147,910,778 (GRCm39) |
C273S |
probably damaging |
Het |
|
Other mutations in Wdr47 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2012-04-20 |