Incidental Mutation 'R2242:Wdr47'
| ID |
240688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr47
|
| Ensembl Gene |
ENSMUSG00000040389 |
| Gene Name |
WD repeat domain 47 |
| Synonyms |
nemitin, 1810073M12Rik |
| MMRRC Submission |
040242-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2242 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
108498595-108553035 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108526431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 318
(D318G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051145]
[ENSMUST00000124731]
|
| AlphaFold |
Q8CGF6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051145
AA Change: D318G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057482
Gene: ENSMUSG00000040389
AA Change: D318G
| 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 |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
T |
13: 68,837,460 (GRCm39) |
S630T |
probably benign |
Het |
| Afap1l2 |
T |
C |
19: 56,902,900 (GRCm39) |
I760V |
possibly damaging |
Het |
| Cdc20 |
A |
G |
4: 118,290,722 (GRCm39) |
V426A |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,796,551 (GRCm39) |
S219G |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,490,054 (GRCm39) |
D603E |
probably damaging |
Het |
| Dctn1 |
A |
G |
6: 83,176,687 (GRCm39) |
Y1205C |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,037,828 (GRCm39) |
|
probably null |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Eif1ad |
CGAGGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGGAGG |
19: 5,420,086 (GRCm39) |
|
probably benign |
Het |
| Fes |
T |
G |
7: 80,031,473 (GRCm39) |
E467A |
probably damaging |
Het |
| Ftsj3 |
T |
A |
11: 106,141,604 (GRCm39) |
Q548L |
probably benign |
Het |
| Gpc6 |
A |
T |
14: 117,424,199 (GRCm39) |
T96S |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Lama4 |
G |
A |
10: 38,902,689 (GRCm39) |
C221Y |
probably damaging |
Het |
| Malrd1 |
T |
C |
2: 16,106,755 (GRCm39) |
C1856R |
unknown |
Het |
| Mfsd6 |
G |
T |
1: 52,748,757 (GRCm39) |
P36Q |
probably benign |
Het |
| Ofcc1 |
A |
G |
13: 40,296,263 (GRCm39) |
S524P |
probably benign |
Het |
| Or13c3 |
A |
G |
4: 52,855,769 (GRCm39) |
V248A |
probably damaging |
Het |
| Or2n1b |
A |
G |
17: 38,459,613 (GRCm39) |
I45V |
possibly damaging |
Het |
| Ripor2 |
A |
G |
13: 24,855,755 (GRCm39) |
E65G |
probably benign |
Het |
| Sardh |
A |
T |
2: 27,125,527 (GRCm39) |
V329E |
possibly damaging |
Het |
| Slc37a3 |
A |
G |
6: 39,315,739 (GRCm39) |
S446P |
probably benign |
Het |
| Vmn2r57 |
T |
C |
7: 41,077,498 (GRCm39) |
T223A |
probably benign |
Het |
| Zic4 |
C |
T |
9: 91,260,706 (GRCm39) |
|
probably benign |
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 |
|
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'- GCAACGGTTGTGACGATTTAG -3'
(R):5'- TGCTTACCGCTCAGGAGATTC -3'
Sequencing Primer
(F):5'- ACGGTTGTGACGATTTAGATCTAAG -3'
(R):5'- CCGCTCAGGAGATTCTTCATAGATG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation