Incidental Mutation 'P4748:Wrap53'
| ID |
26549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wrap53
|
| Ensembl Gene |
ENSMUSG00000041346 |
| Gene Name |
WD repeat containing, antisense to Trp53 |
| Synonyms |
Wdr79 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
P4748 ()
of strain
712
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
11 |
| Chromosomal Location |
69452580-69471076 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69453031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 425
(D425E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004036]
[ENSMUST00000048139]
|
| AlphaFold |
Q8VC51 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004036
|
| SMART Domains |
Protein: ENSMUSP00000004036
Gene: ENSMUSG00000003934
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Ephrin
|
28 |
167 |
2.8e-45 |
PFAM |
|
transmembrane domain
|
225 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
291 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048139
AA Change: D425E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000047825
Gene: ENSMUSG00000041346
AA Change: D425E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
24 |
N/A |
INTRINSIC |
|
WD40
|
144 |
181 |
5.75e-1 |
SMART |
|
Blast:WD40
|
197 |
242 |
3e-18 |
BLAST |
|
WD40
|
245 |
288 |
1.67e-1 |
SMART |
|
WD40
|
295 |
337 |
3.58e-1 |
SMART |
|
WD40
|
340 |
380 |
1.19e-6 |
SMART |
|
WD40
|
384 |
425 |
8.25e0 |
SMART |
|
Blast:WD40
|
435 |
471 |
1e-14 |
BLAST |
|
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155894
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.5%
- 20x: 94.5%
|
| Validation Efficiency |
87% (26/30) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of RNP processing that are important for telomerase function. It interacts with dyskerin, TERT and TERC, other components of active telomerase, and with small Cajal body RNAs (scaRNAs), which are involved in modifying splicing RNAs. This mRNA also functions as a p53 antisense transcript, that regulates endogenous p53 mRNA levels and further induction of p53 protein by targeting the 5' untranslated region of p53 mRNA. Alternatively spliced transcript variants which differ only in the 5' UTR have been found for this gene. [provided by RefSeq, Mar 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| 4930556J24Rik |
A |
T |
11: 3,888,178 (GRCm39) |
|
probably null |
Het |
| Acoxl |
T |
C |
2: 127,928,264 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
G |
C |
10: 20,848,009 (GRCm39) |
R472S |
probably damaging |
Het |
| Akap10 |
A |
G |
11: 61,763,846 (GRCm39) |
L662P |
possibly damaging |
Het |
| Arhgef10 |
C |
T |
8: 14,978,925 (GRCm39) |
T64M |
possibly damaging |
Het |
| Ccr4 |
C |
T |
9: 114,321,906 (GRCm39) |
G53D |
probably damaging |
Het |
| Cdc25a |
T |
C |
9: 109,713,176 (GRCm39) |
|
probably benign |
Het |
| Clec4n |
A |
C |
6: 123,221,499 (GRCm39) |
Q114H |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,210,983 (GRCm39) |
|
probably benign |
Het |
| Depdc1a |
T |
C |
3: 159,228,184 (GRCm39) |
V312A |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,594,219 (GRCm39) |
P583L |
probably damaging |
Het |
| Klra8 |
A |
T |
6: 130,099,007 (GRCm39) |
D185E |
possibly damaging |
Het |
| Meis2 |
T |
A |
2: 115,694,961 (GRCm39) |
Q394L |
probably benign |
Het |
| Or2t47 |
G |
A |
11: 58,442,348 (GRCm39) |
T239I |
probably damaging |
Het |
| Pzp |
C |
T |
6: 128,467,052 (GRCm39) |
G1107D |
probably damaging |
Het |
| Ralgapa2 |
C |
T |
2: 146,188,731 (GRCm39) |
W1350* |
probably null |
Het |
| Scand1 |
C |
A |
2: 156,153,865 (GRCm39) |
R135L |
probably damaging |
Het |
| Spopl |
A |
T |
2: 23,401,455 (GRCm39) |
M351K |
probably benign |
Het |
| Tmed4 |
T |
C |
11: 6,223,727 (GRCm39) |
|
probably benign |
Het |
| Ube2e2 |
A |
G |
14: 18,630,297 (GRCm38) |
|
probably null |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Usp51 |
GATGCAT |
GAT |
X: 151,791,227 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Wrap53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01510:Wrap53
|
APN |
11 |
69,453,566 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02342:Wrap53
|
APN |
11 |
69,454,417 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0021:Wrap53
|
UTSW |
11 |
69,454,712 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0060:Wrap53
|
UTSW |
11 |
69,454,256 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0682:Wrap53
|
UTSW |
11 |
69,453,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1061:Wrap53
|
UTSW |
11 |
69,453,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1708:Wrap53
|
UTSW |
11 |
69,454,761 (GRCm39) |
nonsense |
probably null |
|
|
R1868:Wrap53
|
UTSW |
11 |
69,452,990 (GRCm39) |
missense |
probably null |
0.46 |
|
R3113:Wrap53
|
UTSW |
11 |
69,454,144 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5091:Wrap53
|
UTSW |
11 |
69,453,273 (GRCm39) |
nonsense |
probably null |
|
|
R5119:Wrap53
|
UTSW |
11 |
69,454,758 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6263:Wrap53
|
UTSW |
11 |
69,453,619 (GRCm39) |
nonsense |
probably null |
|
|
R6337:Wrap53
|
UTSW |
11 |
69,468,511 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6537:Wrap53
|
UTSW |
11 |
69,454,694 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6628:Wrap53
|
UTSW |
11 |
69,452,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7111:Wrap53
|
UTSW |
11 |
69,453,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7138:Wrap53
|
UTSW |
11 |
69,454,694 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7431:Wrap53
|
UTSW |
11 |
69,469,313 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
X0063:Wrap53
|
UTSW |
11 |
69,469,363 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Wrap53
|
UTSW |
11 |
69,469,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTCGGTCAGCACCTAGTTCAAG -3'
(R):5'- TCGGGAAGTGACCACTAATCAGCG -3'
Sequencing Primer
(F):5'- GGTCAGCACCTAGTTCAAGATAATAC -3'
(R):5'- ACTTTGATCTGGACCCGTAAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation