Incidental Mutation 'IGL01562:Wrap73'
| ID |
90865 |
| 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: 0.688)
|
| Stock # |
IGL01562
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
154226811-154241278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 154229794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 55
(E55G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030895]
|
| AlphaFold |
Q9JM98 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030895
AA Change: E55G
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000030895
Gene: ENSMUSG00000029029
AA Change: E55G
| 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 |
noncoding transcript
Transcript: ENSMUST00000142665
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Crym |
A |
G |
7: 119,794,622 (GRCm39) |
V199A |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,788,049 (GRCm39) |
T829A |
probably benign |
Het |
| Frg1 |
T |
C |
8: 41,869,946 (GRCm39) |
K18R |
possibly damaging |
Het |
| H2-M10.5 |
A |
G |
17: 37,084,668 (GRCm39) |
S131G |
possibly damaging |
Het |
| Ift172 |
A |
T |
5: 31,424,591 (GRCm39) |
I701N |
probably damaging |
Het |
| Il5ra |
T |
C |
6: 106,708,865 (GRCm39) |
I292V |
probably benign |
Het |
| Nup98 |
A |
G |
7: 101,835,125 (GRCm39) |
S243P |
probably damaging |
Het |
| Pramel16 |
A |
G |
4: 143,677,435 (GRCm39) |
L48S |
probably damaging |
Het |
| Ptgis |
T |
C |
2: 167,048,750 (GRCm39) |
Y422C |
probably damaging |
Het |
| Senp2 |
T |
C |
16: 21,828,437 (GRCm39) |
C16R |
probably damaging |
Het |
| St7 |
T |
A |
6: 17,922,034 (GRCm39) |
L411Q |
probably damaging |
Het |
| Tanc2 |
A |
T |
11: 105,670,895 (GRCm39) |
Y164F |
probably benign |
Het |
| Ttc23l |
T |
C |
15: 10,551,476 (GRCm39) |
|
probably benign |
Het |
| Vmn2r66 |
G |
T |
7: 84,656,495 (GRCm39) |
Q174K |
probably benign |
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 |
|
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 |
2013-12-09 |
Incidental Mutation