Incidental Mutation 'R0533:Wrap73'
| ID |
49311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wrap73
|
| Ensembl Gene |
ENSMUSG00000029029 |
| Gene Name |
WD repeat containing, antisense to Trp73 |
| Synonyms |
DD57, 2610044M17Rik, Wdr8, 5330425N03Rik |
| MMRRC Submission |
038725-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.688)
|
| Stock # |
R0533 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
154226811-154241278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 154240611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 368
(V368M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030895]
[ENSMUST00000030896]
[ENSMUST00000105639]
|
| AlphaFold |
Q9JM98 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030895
AA Change: V368M
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030895
Gene: ENSMUSG00000029029
AA Change: V368M
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
38 |
77 |
4e-18 |
BLAST |
|
Blast:WD40
|
81 |
120 |
6e-16 |
BLAST |
|
Blast:WD40
|
125 |
163 |
9e-6 |
BLAST |
|
WD40
|
167 |
208 |
2.28e2 |
SMART |
|
WD40
|
215 |
251 |
1.58e-2 |
SMART |
|
WD40
|
319 |
360 |
2.29e1 |
SMART |
|
WD40
|
363 |
401 |
4.18e-2 |
SMART |
|
Blast:WD40
|
402 |
443 |
2e-19 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030896
|
| SMART Domains |
Protein: ENSMUSP00000030896
Gene: ENSMUSG00000029030
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:hSac2
|
56 |
163 |
3.5e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105639
|
| SMART Domains |
Protein: ENSMUSP00000101264
Gene: ENSMUSG00000029030
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:hSac2
|
53 |
106 |
6.5e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132562
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134492
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142665
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146734
|
| SMART Domains |
Protein: ENSMUSP00000118548
Gene: ENSMUSG00000029029
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
28 |
64 |
1.58e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.5%
|
| Validation Efficiency |
100% (57/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Studies of the related mouse protein suggest that the encoded protein may play a role in the process of ossification. [provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
G |
8: 60,984,797 (GRCm39) |
|
probably benign |
Het |
| Abcb1b |
A |
T |
5: 8,914,113 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
A |
G |
1: 165,391,592 (GRCm39) |
N1283S |
probably benign |
Het |
| Adgrb1 |
T |
A |
15: 74,413,408 (GRCm39) |
W531R |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,410,653 (GRCm39) |
V246A |
probably benign |
Het |
| Arid5b |
A |
T |
10: 68,021,863 (GRCm39) |
D242E |
probably damaging |
Het |
| Arpp21 |
A |
G |
9: 111,955,573 (GRCm39) |
V522A |
probably benign |
Het |
| Atg4b |
T |
A |
1: 93,712,632 (GRCm39) |
|
probably benign |
Het |
| Capn12 |
T |
C |
7: 28,587,108 (GRCm39) |
F359S |
possibly damaging |
Het |
| Ccdc88c |
A |
T |
12: 100,920,541 (GRCm39) |
I360N |
probably damaging |
Het |
| Clic3 |
A |
G |
2: 25,348,150 (GRCm39) |
Y99C |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,336,713 (GRCm39) |
E925G |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,852,314 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
G |
11: 118,001,363 (GRCm39) |
V860A |
possibly damaging |
Het |
| Etv5 |
C |
T |
16: 22,254,825 (GRCm39) |
|
probably benign |
Het |
| Fam83a |
T |
A |
15: 57,873,207 (GRCm39) |
N345K |
probably benign |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gpm6a |
A |
G |
8: 55,508,409 (GRCm39) |
|
probably null |
Het |
| Grid1 |
T |
A |
14: 35,031,342 (GRCm39) |
Y312N |
possibly damaging |
Het |
| Gstm4 |
T |
C |
3: 107,950,841 (GRCm39) |
N51S |
probably benign |
Het |
| Hid1 |
A |
T |
11: 115,239,635 (GRCm39) |
I765N |
probably damaging |
Het |
| Hmmr |
A |
G |
11: 40,600,816 (GRCm39) |
V518A |
unknown |
Het |
| Itgb6 |
A |
G |
2: 60,499,541 (GRCm39) |
V84A |
probably benign |
Het |
| Kbtbd4 |
A |
G |
2: 90,737,948 (GRCm39) |
K233E |
probably benign |
Het |
| Kif15 |
A |
T |
9: 122,838,498 (GRCm39) |
|
probably benign |
Het |
| Klre1 |
T |
C |
6: 129,560,156 (GRCm39) |
S143P |
probably damaging |
Het |
| Krt81 |
T |
C |
15: 101,359,270 (GRCm39) |
D216G |
probably benign |
Het |
| Mctp2 |
G |
T |
7: 71,730,570 (GRCm39) |
H868Q |
probably benign |
Het |
| Morc2b |
G |
C |
17: 33,354,906 (GRCm39) |
Y955* |
probably null |
Het |
| Myog |
A |
C |
1: 134,218,211 (GRCm39) |
N140H |
possibly damaging |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Neil3 |
A |
T |
8: 54,091,810 (GRCm39) |
|
probably null |
Het |
| Nrg1 |
T |
C |
8: 32,321,273 (GRCm39) |
|
probably null |
Het |
| Or1o4 |
A |
T |
17: 37,591,182 (GRCm39) |
L43* |
probably null |
Het |
| Or56a3b |
G |
A |
7: 104,771,557 (GRCm39) |
V298I |
probably benign |
Het |
| Or56b35 |
A |
T |
7: 104,963,579 (GRCm39) |
M123L |
probably benign |
Het |
| Pramel16 |
A |
T |
4: 143,677,290 (GRCm39) |
D96E |
possibly damaging |
Het |
| Pramel23 |
G |
T |
4: 143,424,590 (GRCm39) |
C284* |
probably null |
Het |
| Ptger2 |
T |
A |
14: 45,226,439 (GRCm39) |
N6K |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 28,778,205 (GRCm39) |
E2097V |
probably damaging |
Het |
| Sel1l |
A |
T |
12: 91,786,868 (GRCm39) |
F397Y |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,685,064 (GRCm39) |
V551A |
unknown |
Het |
| Slc39a12 |
A |
G |
2: 14,405,142 (GRCm39) |
T245A |
probably benign |
Het |
| Syne1 |
C |
T |
10: 5,308,438 (GRCm39) |
V706I |
probably benign |
Het |
| Tbc1d8 |
G |
T |
1: 39,411,855 (GRCm39) |
Q994K |
possibly damaging |
Het |
| Tnrc6b |
C |
T |
15: 80,760,854 (GRCm39) |
T187I |
probably benign |
Het |
| Ttll6 |
G |
A |
11: 96,045,582 (GRCm39) |
A600T |
probably benign |
Het |
| Ust |
T |
C |
10: 8,123,844 (GRCm39) |
|
probably benign |
Het |
| Vmn2r71 |
GT |
GTT |
7: 85,268,426 (GRCm39) |
|
probably null |
Het |
| Vstm2a |
C |
T |
11: 16,213,041 (GRCm39) |
A142V |
probably damaging |
Het |
| Wfs1 |
T |
A |
5: 37,131,066 (GRCm39) |
|
probably benign |
Het |
| Xrra1 |
T |
A |
7: 99,524,352 (GRCm39) |
|
probably null |
Het |
| Zfhx2 |
C |
T |
14: 55,301,547 (GRCm39) |
V2146I |
probably benign |
Het |
| Zfp335 |
A |
T |
2: 164,749,842 (GRCm39) |
L185* |
probably null |
Het |
|
| Other mutations in Wrap73 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00793:Wrap73
|
APN |
4 |
154,237,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01562:Wrap73
|
APN |
4 |
154,229,794 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01863:Wrap73
|
APN |
4 |
154,229,790 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02342:Wrap73
|
APN |
4 |
154,233,237 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL03012:Wrap73
|
APN |
4 |
154,229,691 (GRCm39) |
splice site |
probably benign |
|
|
IGL03303:Wrap73
|
APN |
4 |
154,231,000 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0128:Wrap73
|
UTSW |
4 |
154,226,957 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0455:Wrap73
|
UTSW |
4 |
154,233,200 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0524:Wrap73
|
UTSW |
4 |
154,229,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0528:Wrap73
|
UTSW |
4 |
154,229,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0533:Wrap73
|
UTSW |
4 |
154,236,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0633:Wrap73
|
UTSW |
4 |
154,226,948 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1118:Wrap73
|
UTSW |
4 |
154,236,884 (GRCm39) |
splice site |
probably null |
|
|
R1669:Wrap73
|
UTSW |
4 |
154,240,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1725:Wrap73
|
UTSW |
4 |
154,233,209 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2070:Wrap73
|
UTSW |
4 |
154,233,200 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4530:Wrap73
|
UTSW |
4 |
154,241,164 (GRCm39) |
unclassified |
probably benign |
|
|
R4669:Wrap73
|
UTSW |
4 |
154,236,153 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4969:Wrap73
|
UTSW |
4 |
154,237,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5254:Wrap73
|
UTSW |
4 |
154,239,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5334:Wrap73
|
UTSW |
4 |
154,229,731 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5428:Wrap73
|
UTSW |
4 |
154,229,731 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5431:Wrap73
|
UTSW |
4 |
154,229,731 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5728:Wrap73
|
UTSW |
4 |
154,239,099 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7338:Wrap73
|
UTSW |
4 |
154,237,043 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7426:Wrap73
|
UTSW |
4 |
154,240,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7480:Wrap73
|
UTSW |
4 |
154,237,043 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7680:Wrap73
|
UTSW |
4 |
154,241,079 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTGTGCAAGAACAGGGCTTAC -3'
(R):5'- TTAAGCAGGTCAGCCTGTCTGAGG -3'
Sequencing Primer
(F):5'- tcccacccatacaaatccttc -3'
(R):5'- GCCTGTCTGAGGCCAGC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation