Incidental Mutation 'IGL00793:Wrap73'
| ID |
14857 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wrap73
|
| Ensembl Gene |
ENSMUSG00000029029 |
| Gene Name |
WD repeat containing, antisense to Trp73 |
| Synonyms |
DD57, 2610044M17Rik, Wdr8, 5330425N03Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.743)
|
| Stock # |
IGL00793
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
154226811-154241278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 154237096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 228
(S228P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030895]
[ENSMUST00000030896]
|
| AlphaFold |
Q9JM98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030895
AA Change: S228P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030895
Gene: ENSMUSG00000029029
AA Change: S228P
| 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 |
noncoding transcript
Transcript: ENSMUST00000132562
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142665
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000146734
AA Change: S40P
|
| SMART Domains |
Protein: ENSMUSP00000118548
Gene: ENSMUSG00000029029
AA Change: S40P
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
28 |
64 |
1.58e-2 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
G |
9: 108,274,605 (GRCm39) |
D236G |
probably damaging |
Het |
| 5031410I06Rik |
T |
C |
5: 26,309,153 (GRCm39) |
R50G |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,327,846 (GRCm39) |
|
probably benign |
Het |
| Adm |
A |
G |
7: 110,227,788 (GRCm39) |
Y52C |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,302,817 (GRCm39) |
T1097A |
probably damaging |
Het |
| Ccne1 |
A |
C |
7: 37,805,726 (GRCm39) |
V50G |
probably benign |
Het |
| Copb2 |
A |
G |
9: 98,467,057 (GRCm39) |
T636A |
probably benign |
Het |
| Cxadr |
C |
A |
16: 78,131,115 (GRCm39) |
Y210* |
probably null |
Het |
| Dnajc17 |
T |
C |
2: 119,011,441 (GRCm39) |
E163G |
probably benign |
Het |
| Dnmt3b |
T |
A |
2: 153,514,422 (GRCm39) |
M405K |
possibly damaging |
Het |
| Enpp7 |
A |
T |
11: 118,881,371 (GRCm39) |
N172I |
probably damaging |
Het |
| G2e3 |
T |
A |
12: 51,414,545 (GRCm39) |
S340T |
probably benign |
Het |
| Kat2b |
A |
G |
17: 53,972,852 (GRCm39) |
N722S |
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,161,120 (GRCm39) |
V263F |
probably damaging |
Het |
| Ldlrad1 |
A |
G |
4: 107,075,086 (GRCm39) |
D211G |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,378,074 (GRCm39) |
V4082A |
possibly damaging |
Het |
| Maco1 |
A |
G |
4: 134,555,517 (GRCm39) |
S319P |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,364,189 (GRCm39) |
V4370D |
possibly damaging |
Het |
| Npsr1 |
G |
T |
9: 24,165,989 (GRCm39) |
R125L |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,944,628 (GRCm39) |
I116V |
probably damaging |
Het |
| Parp4 |
G |
T |
14: 56,840,334 (GRCm39) |
A580S |
possibly damaging |
Het |
| Pfkm |
T |
C |
15: 98,023,475 (GRCm39) |
V391A |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,769,792 (GRCm39) |
S170T |
probably damaging |
Het |
| Rsbn1l |
C |
T |
5: 21,101,153 (GRCm39) |
V796I |
probably benign |
Het |
| Slc39a8 |
A |
G |
3: 135,590,494 (GRCm39) |
I396V |
probably benign |
Het |
| Spag16 |
T |
C |
1: 70,338,809 (GRCm39) |
C436R |
probably damaging |
Het |
| Stpg1 |
A |
G |
4: 135,233,718 (GRCm39) |
|
probably benign |
Het |
| Tmem86b |
A |
G |
7: 4,631,756 (GRCm39) |
|
probably benign |
Het |
| Trf |
A |
G |
9: 103,103,342 (GRCm39) |
|
probably benign |
Het |
| Trim61 |
A |
T |
8: 65,466,743 (GRCm39) |
Y173N |
possibly damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,252,779 (GRCm39) |
V1364A |
probably benign |
Het |
|
| Other mutations in Wrap73 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
154,240,611 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation