Incidental Mutation 'R5732:Wdr47'
| ID |
451475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr47
|
| Ensembl Gene |
ENSMUSG00000040389 |
| Gene Name |
WD repeat domain 47 |
| Synonyms |
nemitin, 1810073M12Rik |
| MMRRC Submission |
043347-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5732 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
108498595-108553035 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 108540472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 622
(Y622*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051145]
|
| AlphaFold |
Q8CGF6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000051145
AA Change: Y622*
|
| SMART Domains |
Protein: ENSMUSP00000057482
Gene: ENSMUSG00000040389
AA Change: Y622*
| 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: ENSMUST00000144325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197398
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.8%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
T |
A |
9: 118,977,462 (GRCm39) |
M407L |
possibly damaging |
Het |
| Acsf2 |
T |
C |
11: 94,460,768 (GRCm39) |
|
probably benign |
Het |
| Apob |
A |
G |
12: 8,060,353 (GRCm39) |
D2945G |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,307,490 (GRCm39) |
Y1475H |
probably damaging |
Het |
| Capn5 |
A |
G |
7: 97,778,593 (GRCm39) |
L342P |
possibly damaging |
Het |
| Ccdc152 |
A |
G |
15: 3,321,860 (GRCm39) |
|
probably null |
Het |
| Ccdc7b |
A |
G |
8: 129,799,195 (GRCm39) |
M91V |
possibly damaging |
Het |
| Cd3g |
T |
C |
9: 44,884,929 (GRCm39) |
E105G |
possibly damaging |
Het |
| Cdadc1 |
A |
G |
14: 59,834,360 (GRCm39) |
L44P |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,167,096 (GRCm39) |
V1852A |
possibly damaging |
Het |
| Cdx2 |
T |
C |
5: 147,238,833 (GRCm39) |
Q252R |
possibly damaging |
Het |
| Cps1 |
A |
T |
1: 67,196,923 (GRCm39) |
I325F |
probably benign |
Het |
| Dctn1 |
G |
A |
6: 83,174,931 (GRCm39) |
|
probably null |
Het |
| Dcun1d3 |
T |
C |
7: 119,457,256 (GRCm39) |
K152R |
probably benign |
Het |
| Dhx35 |
G |
A |
2: 158,673,705 (GRCm39) |
V379M |
probably damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,330,807 (GRCm39) |
E224G |
possibly damaging |
Het |
| Flt1 |
G |
T |
5: 147,571,293 (GRCm39) |
Y671* |
probably null |
Het |
| Fndc3b |
T |
C |
3: 27,515,922 (GRCm39) |
Y628C |
probably damaging |
Het |
| Foxj3 |
A |
T |
4: 119,443,008 (GRCm39) |
D144V |
probably damaging |
Het |
| Gp2 |
A |
G |
7: 119,048,331 (GRCm39) |
V429A |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,178,690 (GRCm39) |
I1095N |
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,599,066 (GRCm39) |
F571S |
probably damaging |
Het |
| Kcnq1 |
C |
A |
7: 142,702,493 (GRCm39) |
|
probably benign |
Het |
| Letm2 |
A |
C |
8: 26,077,341 (GRCm39) |
S250A |
possibly damaging |
Het |
| Llgl1 |
T |
C |
11: 60,600,286 (GRCm39) |
V545A |
probably benign |
Het |
| Lrfn3 |
T |
C |
7: 30,059,031 (GRCm39) |
D398G |
probably benign |
Het |
| Lrig1 |
G |
T |
6: 94,676,520 (GRCm39) |
C49* |
probably null |
Het |
| Mug1 |
A |
G |
6: 121,855,452 (GRCm39) |
I929V |
probably benign |
Het |
| Naaa |
G |
A |
5: 92,411,314 (GRCm39) |
T291I |
probably damaging |
Het |
| Ndufaf1 |
G |
A |
2: 119,490,521 (GRCm39) |
Q180* |
probably null |
Het |
| Nr3c1 |
A |
T |
18: 39,548,752 (GRCm39) |
H741Q |
probably damaging |
Het |
| Nsun5 |
T |
C |
5: 135,400,204 (GRCm39) |
L109P |
probably damaging |
Het |
| Pacsin3 |
A |
G |
2: 91,090,605 (GRCm39) |
E18G |
probably damaging |
Het |
| Rpgr |
G |
A |
X: 10,032,511 (GRCm39) |
P857L |
probably benign |
Het |
| Siglec1 |
G |
A |
2: 130,916,188 (GRCm39) |
T1254M |
probably benign |
Het |
| Slc35a4 |
A |
T |
18: 36,815,394 (GRCm39) |
T75S |
probably benign |
Het |
| Slc52a2 |
T |
C |
15: 76,425,274 (GRCm39) |
I434T |
probably benign |
Het |
| Slco2a1 |
C |
T |
9: 102,927,455 (GRCm39) |
T116I |
probably damaging |
Het |
| Snrpd2 |
T |
C |
7: 18,886,538 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
T |
A |
10: 55,964,489 (GRCm39) |
L903F |
probably damaging |
Het |
| Tex10 |
G |
T |
4: 48,460,046 (GRCm39) |
T435K |
probably damaging |
Het |
| Tmem266 |
T |
C |
9: 55,288,120 (GRCm39) |
S66P |
probably damaging |
Het |
| Top2b |
A |
T |
14: 16,400,106 (GRCm38) |
E581D |
possibly damaging |
Het |
| Uggt1 |
A |
T |
1: 36,200,852 (GRCm39) |
|
probably null |
Het |
| Zfp644 |
A |
T |
5: 106,784,989 (GRCm39) |
H519Q |
probably damaging |
Het |
| Zfp687 |
T |
C |
3: 94,918,528 (GRCm39) |
M415V |
possibly 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 |
|
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 |
|
|
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'- CCAGTTAAATGATGCACAGCAA -3'
(R):5'- GGATATTGTCCTAGGCACTGATTAA -3'
Sequencing Primer
(F):5'- TGAACTTAGGTCCTCTACAAGAGC -3'
(R):5'- ATTGTCCTAGGCACTGATTAATAAAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation