Incidental Mutation 'IGL01821:Wdr47'
| ID |
154557 |
| 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 # |
IGL01821
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108498595-108553035 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108534520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 480
(S480P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051145]
|
| AlphaFold |
Q8CGF6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051145
AA Change: S480P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057482
Gene: ENSMUSG00000040389
AA Change: S480P
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,917,142 (GRCm39) |
|
probably null |
Het |
| Ahnak |
A |
G |
19: 8,989,482 (GRCm39) |
I3589V |
probably benign |
Het |
| Arhgdia |
A |
T |
11: 120,471,031 (GRCm39) |
L56Q |
probably damaging |
Het |
| Camk2b |
C |
T |
11: 5,947,890 (GRCm39) |
D112N |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,771,699 (GRCm39) |
V664A |
probably benign |
Het |
| Gstm2 |
T |
C |
3: 107,892,369 (GRCm39) |
D119G |
possibly damaging |
Het |
| Hic2 |
T |
C |
16: 17,075,695 (GRCm39) |
F175L |
probably benign |
Het |
| Ifi214 |
T |
C |
1: 173,356,891 (GRCm39) |
I71V |
probably damaging |
Het |
| Igkv17-121 |
G |
A |
6: 68,013,848 (GRCm39) |
C16Y |
unknown |
Het |
| Inpp4a |
T |
C |
1: 37,416,798 (GRCm39) |
S435P |
probably damaging |
Het |
| Irgm1 |
A |
G |
11: 48,757,353 (GRCm39) |
S153P |
probably damaging |
Het |
| Lactb |
A |
T |
9: 66,878,180 (GRCm39) |
S216R |
probably damaging |
Het |
| Nol7 |
A |
G |
13: 43,552,216 (GRCm39) |
K87R |
probably benign |
Het |
| Or9m2 |
T |
A |
2: 87,820,933 (GRCm39) |
H159Q |
probably benign |
Het |
| Patj |
G |
T |
4: 98,344,448 (GRCm39) |
G18W |
probably damaging |
Het |
| Pjvk |
G |
T |
2: 76,486,259 (GRCm39) |
G220C |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,819,219 (GRCm39) |
Y1071H |
probably damaging |
Het |
| Psmb8 |
C |
A |
17: 34,417,517 (GRCm39) |
Q49K |
probably benign |
Het |
| Rhcg |
C |
A |
7: 79,248,346 (GRCm39) |
L419F |
probably benign |
Het |
| Slc6a5 |
A |
G |
7: 49,564,601 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,111,003 (GRCm39) |
D607G |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 35,914,710 (GRCm39) |
L2275F |
probably damaging |
Het |
| Thoc1 |
A |
G |
18: 9,993,429 (GRCm39) |
D596G |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,341,835 (GRCm39) |
F205L |
probably damaging |
Het |
| Traf7 |
G |
A |
17: 24,729,473 (GRCm39) |
S446F |
probably damaging |
Het |
| Trnt1 |
G |
A |
6: 106,751,436 (GRCm39) |
V138I |
probably damaging |
Het |
| Tsnaxip1 |
A |
T |
8: 106,564,148 (GRCm39) |
Q116L |
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 |
|
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 |
2014-02-04 |
Incidental Mutation