Incidental Mutation 'R5728:Wrap73'
| ID |
452598 |
| 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 |
043345-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.688)
|
| Stock # |
R5728 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
154226811-154241278 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 154239099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030895]
[ENSMUST00000030896]
[ENSMUST00000105639]
|
| AlphaFold |
Q9JM98 |
| Predicted Effect |
probably null
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 |
probably null
Transcript: ENSMUST00000146734
|
| SMART Domains |
Protein: ENSMUSP00000118548
Gene: ENSMUSG00000029029
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
28 |
64 |
1.58e-2 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146734
|
| SMART Domains |
Protein: ENSMUSP00000118548
Gene: ENSMUSG00000029029
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
28 |
64 |
1.58e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142665
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930018P22Rik |
T |
A |
2: 103,953,213 (GRCm39) |
M13K |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,520,576 (GRCm39) |
V4493D |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,612,783 (GRCm39) |
|
probably null |
Het |
| B4galnt4 |
A |
G |
7: 140,650,488 (GRCm39) |
D785G |
probably benign |
Het |
| Chtop |
C |
T |
3: 90,407,399 (GRCm39) |
G187D |
probably damaging |
Het |
| Cnih1 |
A |
G |
14: 47,017,648 (GRCm39) |
F78S |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dcun1d4 |
T |
C |
5: 73,677,491 (GRCm39) |
F57L |
possibly damaging |
Het |
| Dgkz |
A |
G |
2: 91,776,132 (GRCm39) |
S44P |
possibly damaging |
Het |
| Dhps |
A |
G |
8: 85,799,964 (GRCm39) |
D138G |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,750,509 (GRCm39) |
E282G |
probably damaging |
Het |
| Exoc6b |
T |
C |
6: 84,837,173 (GRCm39) |
Y342C |
probably damaging |
Het |
| Fasn |
A |
C |
11: 120,704,339 (GRCm39) |
S1386A |
probably benign |
Het |
| Foxj3 |
A |
T |
4: 119,430,959 (GRCm39) |
N111Y |
probably damaging |
Het |
| Gm5431 |
T |
C |
11: 48,779,440 (GRCm39) |
E772G |
probably damaging |
Het |
| Gpbar1 |
A |
G |
1: 74,318,216 (GRCm39) |
N153S |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,270,077 (GRCm39) |
I2345T |
possibly damaging |
Het |
| Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
| Lce1f |
A |
G |
3: 92,626,652 (GRCm39) |
S2P |
unknown |
Het |
| Lrrk2 |
A |
G |
15: 91,659,177 (GRCm39) |
D1863G |
probably benign |
Het |
| Lurap1 |
T |
C |
4: 116,001,585 (GRCm39) |
E36G |
possibly damaging |
Het |
| Lysmd3 |
A |
G |
13: 81,817,380 (GRCm39) |
E119G |
probably damaging |
Het |
| Map9 |
G |
A |
3: 82,270,642 (GRCm39) |
V69I |
probably benign |
Het |
| Mfsd4b2 |
A |
C |
10: 39,799,791 (GRCm39) |
F37C |
possibly damaging |
Het |
| Moxd1 |
A |
T |
10: 24,099,581 (GRCm39) |
H27L |
possibly damaging |
Het |
| Myo15a |
A |
T |
11: 60,379,722 (GRCm39) |
K1476N |
probably damaging |
Het |
| Mzf1 |
A |
G |
7: 12,777,985 (GRCm39) |
I552T |
probably benign |
Het |
| Nfatc2 |
A |
G |
2: 168,322,169 (GRCm39) |
V910A |
probably benign |
Het |
| Or52n2 |
C |
T |
7: 104,542,436 (GRCm39) |
R133Q |
possibly damaging |
Het |
| Prss2 |
T |
C |
6: 41,500,851 (GRCm39) |
V88A |
probably benign |
Het |
| Rhbdf1 |
A |
G |
11: 32,159,901 (GRCm39) |
|
probably null |
Het |
| Slc10a4 |
A |
T |
5: 73,169,677 (GRCm39) |
Q434L |
probably damaging |
Het |
| Slc4a3 |
A |
G |
1: 75,526,484 (GRCm39) |
T2A |
probably benign |
Het |
| Sqor |
A |
G |
2: 122,651,320 (GRCm39) |
*194W |
probably null |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Tagap1 |
A |
G |
17: 7,224,420 (GRCm39) |
V92A |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,465,231 (GRCm39) |
Y320C |
probably damaging |
Het |
| Toporsl |
T |
C |
4: 52,611,469 (GRCm39) |
I454T |
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Ubap1l |
T |
C |
9: 65,276,570 (GRCm39) |
V24A |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,466,238 (GRCm39) |
S1810T |
probably benign |
Het |
| Vmn1r56 |
A |
T |
7: 5,199,122 (GRCm39) |
I165K |
probably benign |
Het |
| Wnt8b |
A |
G |
19: 44,499,757 (GRCm39) |
T169A |
possibly damaging |
Het |
| Wwc2 |
A |
G |
8: 48,317,096 (GRCm39) |
I703T |
unknown |
Het |
| Zfp354a |
T |
A |
11: 50,961,432 (GRCm39) |
C546S |
probably damaging |
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 |
|
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 |
|
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'- GCTGCAAAGGGTCAGACTTG -3'
(R):5'- AGGCTTCACAGGAGAACACC -3'
Sequencing Primer
(F):5'- CTCCGTGTGGGGCACATAGATAG -3'
(R):5'- GAACACCTGCGGTCTCTACACTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation