Incidental Mutation 'R4530:Wrap73'
| ID |
333070 |
| 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 |
041770-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.743)
|
| Stock # |
R4530 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
154226811-154241278 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 154241164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030895]
[ENSMUST00000030896]
[ENSMUST00000105639]
|
| AlphaFold |
Q9JM98 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030895
|
| SMART Domains |
Protein: ENSMUSP00000030895
Gene: ENSMUSG00000029029
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
93% (37/40) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
T |
C |
14: 56,016,485 (GRCm39) |
D322G |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,011,433 (GRCm39) |
D451G |
probably damaging |
Het |
| Arhgef7 |
T |
C |
8: 11,850,802 (GRCm39) |
M144T |
possibly damaging |
Het |
| Arid4b |
C |
A |
13: 14,301,040 (GRCm39) |
T41N |
probably damaging |
Het |
| Axin1 |
T |
A |
17: 26,407,146 (GRCm39) |
Y580N |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,419,252 (GRCm39) |
N227D |
possibly damaging |
Het |
| Cetn4 |
C |
T |
3: 37,364,094 (GRCm39) |
V39I |
probably benign |
Het |
| Clec2h |
A |
G |
6: 128,639,457 (GRCm39) |
D18G |
possibly damaging |
Het |
| Clec4e |
T |
C |
6: 123,266,733 (GRCm39) |
|
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,584,842 (GRCm39) |
I1093T |
probably benign |
Het |
| Dner |
G |
T |
1: 84,560,736 (GRCm39) |
N136K |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,373,811 (GRCm39) |
S249G |
probably benign |
Het |
| Il16 |
A |
C |
7: 83,330,518 (GRCm39) |
|
probably benign |
Het |
| Intu |
T |
G |
3: 40,637,794 (GRCm39) |
C427G |
possibly damaging |
Het |
| Kif21a |
A |
C |
15: 90,852,292 (GRCm39) |
|
probably null |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Mroh7 |
T |
C |
4: 106,577,634 (GRCm39) |
E348G |
possibly damaging |
Het |
| Or10g6 |
G |
A |
9: 39,934,589 (GRCm39) |
R300K |
probably benign |
Het |
| Or2h1b |
C |
T |
17: 37,462,498 (GRCm39) |
V122M |
possibly damaging |
Het |
| Or8g2b |
G |
T |
9: 39,751,379 (GRCm39) |
M216I |
probably benign |
Het |
| Or8k38 |
T |
C |
2: 86,487,905 (GRCm39) |
D299G |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Plbd1 |
T |
A |
6: 136,628,823 (GRCm39) |
I82F |
probably benign |
Het |
| Prss43 |
A |
T |
9: 110,658,572 (GRCm39) |
M291L |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,663,186 (GRCm39) |
N338D |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Stip1 |
G |
T |
19: 7,013,026 (GRCm39) |
N19K |
probably benign |
Het |
| Tat |
T |
A |
8: 110,722,842 (GRCm39) |
F301L |
probably benign |
Het |
| Tmprss11a |
C |
A |
5: 86,576,540 (GRCm39) |
V104L |
possibly damaging |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,852,147 (GRCm39) |
F938I |
probably damaging |
Het |
| Xndc1 |
C |
A |
7: 101,727,942 (GRCm39) |
N85K |
probably benign |
Het |
| Zfp282 |
C |
T |
6: 47,867,567 (GRCm39) |
P248S |
probably benign |
Het |
| Zfp930 |
C |
T |
8: 69,681,483 (GRCm39) |
Q393* |
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 |
154,240,611 (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 |
|
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'- TTTCCAGTGCTCGGACTGTG -3'
(R):5'- ACTGGCTTCAGAGTCTGCAAG -3'
Sequencing Primer
(F):5'- CGGACTGTGCTGGCACTTAAG -3'
(R):5'- TTCAGAGTCTGCAAGGCCATG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation