Incidental Mutation 'R1517:Trp63'
| ID |
167134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trp63
|
| Ensembl Gene |
ENSMUSG00000022510 |
| Gene Name |
transformation related protein 63 |
| Synonyms |
p73L, deltaNp63, TAp63, p63, Trp53rp1, KET protein, p51/p63 |
| MMRRC Submission |
039563-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.895)
|
| Stock # |
R1517 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
25502513-25710838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 25708003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 566
(D566E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040231]
[ENSMUST00000065523]
[ENSMUST00000115306]
[ENSMUST00000115310]
|
| AlphaFold |
O88898 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040231
AA Change: D570E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038117
Gene: ENSMUSG00000022510
AA Change: D570E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P53
|
69 |
265 |
5.4e-110 |
PFAM |
|
Pfam:P53_tetramer
|
297 |
338 |
2.4e-20 |
PFAM |
|
low complexity region
|
343 |
356 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
369 |
N/A |
INTRINSIC |
|
SAM
|
447 |
513 |
1.4e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065523
|
| SMART Domains |
Protein: ENSMUSP00000067005
Gene: ENSMUSG00000022510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P53
|
163 |
359 |
4.9e-110 |
PFAM |
|
Pfam:P53_tetramer
|
391 |
432 |
2.2e-20 |
PFAM |
|
low complexity region
|
437 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
463 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115306
AA Change: D566E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110961
Gene: ENSMUSG00000022510
AA Change: D566E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P53
|
69 |
265 |
2.7e-110 |
PFAM |
|
Pfam:P53_tetramer
|
293 |
334 |
9.2e-21 |
PFAM |
|
low complexity region
|
339 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
|
SAM
|
443 |
509 |
1.4e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115310
AA Change: D664E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110965
Gene: ENSMUSG00000022510
AA Change: D664E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P53
|
163 |
359 |
1.3e-112 |
PFAM |
|
Pfam:P53_tetramer
|
391 |
431 |
7e-21 |
PFAM |
|
low complexity region
|
437 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
463 |
N/A |
INTRINSIC |
|
SAM
|
541 |
607 |
1.4e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.2641 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.9%
|
| Validation Efficiency |
100% (67/67) |
| MGI Phenotype |
FUNCTION: This gene encodes tumor protein p63, a member of the p53 family of transcription factors involved in cellular responses to stress and development. The family members include tumor proteins p53, p63, and p73, which have high sequence similarity to one another. This similarity allows p63 and p73 to transactivate p53-responsive genes causing cell cycle arrest and apoptosis. The family members can interact with each other in many ways, including direct and indirect protein interactions. This results in mutual regulation of target gene promoters. Tumor protein p63 -/- mice have several developmental defects which include the lack of limbs and other tissues, such as teeth and mammary glands, which develop as a result of interactions between mesenchyme and epithelium. Both alternative splicing and the use of alternative promoters result in multiple transcript variants encoding different protein isoforms.[provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygotes for null mutations lack hair follicles, teeth, eyelids, and all squamous epithelia and derivatives including mammary, lacrymal, salivary, and prostate glands. Mutants have craniofacial anomalies, missing or truncated limbs, and small genitalia, and they die perinatally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,862,640 (GRCm39) |
K375R |
possibly damaging |
Het |
| Adrb2 |
T |
C |
18: 62,311,871 (GRCm39) |
N318S |
probably damaging |
Het |
| Akap5 |
A |
C |
12: 76,376,036 (GRCm39) |
E489D |
possibly damaging |
Het |
| Aldh7a1 |
T |
A |
18: 56,665,133 (GRCm39) |
I385F |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,407,146 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
T |
A |
8: 22,487,374 (GRCm39) |
T1314S |
probably damaging |
Het |
| Bhmt2 |
C |
A |
13: 93,798,847 (GRCm39) |
G325C |
probably damaging |
Het |
| Brpf1 |
T |
A |
6: 113,296,050 (GRCm39) |
V781E |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,575,720 (GRCm39) |
Y1860F |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 129,788,162 (GRCm39) |
T56A |
probably damaging |
Het |
| Cep78 |
A |
G |
19: 15,937,027 (GRCm39) |
S560P |
probably damaging |
Het |
| Cnot1 |
G |
A |
8: 96,469,841 (GRCm39) |
T1343I |
probably benign |
Het |
| Coq10b |
T |
C |
1: 55,103,416 (GRCm39) |
S65P |
probably damaging |
Het |
| Creld1 |
T |
A |
6: 113,466,745 (GRCm39) |
C243S |
probably damaging |
Het |
| Cst12 |
A |
T |
2: 148,635,172 (GRCm39) |
I121F |
possibly damaging |
Het |
| Cyp26a1 |
A |
C |
19: 37,687,308 (GRCm39) |
E165A |
probably benign |
Het |
| Cyp2d12 |
T |
G |
15: 82,442,337 (GRCm39) |
M273R |
probably damaging |
Het |
| Dnajb7 |
T |
A |
15: 81,291,657 (GRCm39) |
S227C |
probably damaging |
Het |
| Evc |
T |
A |
5: 37,476,379 (GRCm39) |
Q390L |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,970 (GRCm39) |
L351* |
probably null |
Het |
| Fga |
T |
C |
3: 82,939,145 (GRCm39) |
S507P |
probably benign |
Het |
| Gba1 |
A |
T |
3: 89,113,455 (GRCm39) |
Y239F |
probably damaging |
Het |
| Golga2 |
C |
A |
2: 32,195,996 (GRCm39) |
Y843* |
probably null |
Het |
| Gria4 |
C |
A |
9: 4,793,865 (GRCm39) |
L64F |
probably damaging |
Het |
| Hectd3 |
A |
G |
4: 116,860,191 (GRCm39) |
Y803C |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,545,172 (GRCm39) |
K2812E |
probably damaging |
Het |
| Il17b |
T |
G |
18: 61,823,316 (GRCm39) |
V50G |
probably damaging |
Het |
| Itga2b |
A |
T |
11: 102,357,151 (GRCm39) |
L243* |
probably null |
Het |
| Kank4 |
C |
A |
4: 98,667,266 (GRCm39) |
V394L |
possibly damaging |
Het |
| Kat14 |
T |
A |
2: 144,215,711 (GRCm39) |
D65E |
probably benign |
Het |
| Kcnh3 |
T |
C |
15: 99,136,090 (GRCm39) |
Y696H |
probably damaging |
Het |
| Kctd19 |
C |
A |
8: 106,122,008 (GRCm39) |
D180Y |
probably damaging |
Het |
| Klra8 |
A |
C |
6: 130,092,603 (GRCm39) |
S233A |
probably benign |
Het |
| Masp2 |
A |
T |
4: 148,696,563 (GRCm39) |
T387S |
possibly damaging |
Het |
| Midn |
C |
A |
10: 79,989,957 (GRCm39) |
T275N |
probably damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,180,587 (GRCm39) |
F965L |
probably benign |
Het |
| Myo3a |
G |
T |
2: 22,287,445 (GRCm39) |
V186L |
probably damaging |
Het |
| Ncoa2 |
T |
A |
1: 13,235,281 (GRCm39) |
N884I |
probably benign |
Het |
| Or10d4 |
T |
C |
9: 39,581,016 (GRCm39) |
I221T |
probably damaging |
Het |
| Or13c25 |
A |
T |
4: 52,911,502 (GRCm39) |
C97* |
probably null |
Het |
| Or8k35 |
T |
A |
2: 86,424,948 (GRCm39) |
T75S |
probably damaging |
Het |
| Osr2 |
T |
C |
15: 35,300,813 (GRCm39) |
V123A |
probably benign |
Het |
| P4ha2 |
A |
G |
11: 54,008,471 (GRCm39) |
H226R |
probably benign |
Het |
| Pcdhb16 |
T |
A |
18: 37,611,151 (GRCm39) |
V37E |
probably benign |
Het |
| Pcdhb18 |
T |
A |
18: 37,622,673 (GRCm39) |
M1K |
probably null |
Het |
| Pcsk1 |
T |
A |
13: 75,246,166 (GRCm39) |
Y181* |
probably null |
Het |
| Pros1 |
G |
T |
16: 62,705,875 (GRCm39) |
C63F |
probably damaging |
Het |
| Ranbp3l |
T |
A |
15: 9,065,081 (GRCm39) |
C353* |
probably null |
Het |
| Rev3l |
T |
C |
10: 39,714,439 (GRCm39) |
Y2388H |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rpl12-ps1 |
G |
T |
1: 36,997,458 (GRCm39) |
|
noncoding transcript |
Het |
| Rttn |
T |
C |
18: 89,131,474 (GRCm39) |
V1951A |
probably benign |
Het |
| Scn9a |
G |
A |
2: 66,335,371 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
T |
C |
5: 142,113,591 (GRCm39) |
F1546S |
probably damaging |
Het |
| Sh3glb2 |
C |
T |
2: 30,244,987 (GRCm39) |
R71Q |
probably damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,715,842 (GRCm39) |
F101L |
probably benign |
Het |
| Snrpd1 |
T |
C |
18: 10,626,913 (GRCm39) |
I60T |
probably damaging |
Het |
| Sox10 |
T |
A |
15: 79,043,378 (GRCm39) |
E218D |
probably benign |
Het |
| Tekt3 |
C |
A |
11: 62,961,316 (GRCm39) |
H162N |
probably damaging |
Het |
| Tnfsf13 |
T |
C |
11: 69,575,564 (GRCm39) |
S246G |
possibly damaging |
Het |
| Trim10 |
T |
A |
17: 37,183,346 (GRCm39) |
I214N |
probably damaging |
Het |
| Uck2 |
T |
C |
1: 167,062,293 (GRCm39) |
D156G |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,225 (GRCm39) |
S314R |
possibly damaging |
Het |
| Zfp467 |
C |
T |
6: 48,415,170 (GRCm39) |
R494H |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,601,470 (GRCm39) |
D138V |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,298,925 (GRCm39) |
E445G |
probably damaging |
Het |
|
| Other mutations in Trp63 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00935:Trp63
|
APN |
16 |
25,689,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01402:Trp63
|
APN |
16 |
25,639,135 (GRCm39) |
splice site |
probably benign |
|
|
IGL01404:Trp63
|
APN |
16 |
25,639,135 (GRCm39) |
splice site |
probably benign |
|
|
IGL01874:Trp63
|
APN |
16 |
25,701,335 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01887:Trp63
|
APN |
16 |
25,684,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02008:Trp63
|
APN |
16 |
25,681,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02336:Trp63
|
APN |
16 |
25,639,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02470:Trp63
|
APN |
16 |
25,639,134 (GRCm39) |
splice site |
probably benign |
|
|
IGL02720:Trp63
|
APN |
16 |
25,682,491 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03230:Trp63
|
APN |
16 |
25,707,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Trp63
|
UTSW |
16 |
25,684,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0086:Trp63
|
UTSW |
16 |
25,689,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0281:Trp63
|
UTSW |
16 |
25,583,052 (GRCm39) |
splice site |
probably benign |
|
|
R1448:Trp63
|
UTSW |
16 |
25,707,870 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1539:Trp63
|
UTSW |
16 |
25,703,599 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3922:Trp63
|
UTSW |
16 |
25,707,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3977:Trp63
|
UTSW |
16 |
25,639,490 (GRCm39) |
intron |
probably benign |
|
|
R3978:Trp63
|
UTSW |
16 |
25,639,490 (GRCm39) |
intron |
probably benign |
|
|
R3979:Trp63
|
UTSW |
16 |
25,639,490 (GRCm39) |
intron |
probably benign |
|
|
R4689:Trp63
|
UTSW |
16 |
25,684,012 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4870:Trp63
|
UTSW |
16 |
25,684,968 (GRCm39) |
makesense |
probably null |
|
|
R5009:Trp63
|
UTSW |
16 |
25,686,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5033:Trp63
|
UTSW |
16 |
25,582,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5058:Trp63
|
UTSW |
16 |
25,701,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5118:Trp63
|
UTSW |
16 |
25,707,760 (GRCm39) |
missense |
unknown |
|
|
R5354:Trp63
|
UTSW |
16 |
25,503,105 (GRCm39) |
splice site |
probably null |
|
|
R5363:Trp63
|
UTSW |
16 |
25,682,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5668:Trp63
|
UTSW |
16 |
25,684,935 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6004:Trp63
|
UTSW |
16 |
25,582,146 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6029:Trp63
|
UTSW |
16 |
25,686,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Trp63
|
UTSW |
16 |
25,703,603 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6186:Trp63
|
UTSW |
16 |
25,695,483 (GRCm39) |
intron |
probably benign |
|
|
R6266:Trp63
|
UTSW |
16 |
25,681,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6466:Trp63
|
UTSW |
16 |
25,582,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6486:Trp63
|
UTSW |
16 |
25,684,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6913:Trp63
|
UTSW |
16 |
25,707,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6980:Trp63
|
UTSW |
16 |
25,620,843 (GRCm39) |
missense |
probably benign |
|
|
R7097:Trp63
|
UTSW |
16 |
25,639,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7122:Trp63
|
UTSW |
16 |
25,639,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7544:Trp63
|
UTSW |
16 |
25,620,837 (GRCm39) |
missense |
probably benign |
|
|
R7690:Trp63
|
UTSW |
16 |
25,695,483 (GRCm39) |
missense |
unknown |
|
|
R7743:Trp63
|
UTSW |
16 |
25,701,375 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7766:Trp63
|
UTSW |
16 |
25,686,969 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7792:Trp63
|
UTSW |
16 |
25,686,974 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7816:Trp63
|
UTSW |
16 |
25,707,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7978:Trp63
|
UTSW |
16 |
25,639,436 (GRCm39) |
missense |
unknown |
|
|
R8324:Trp63
|
UTSW |
16 |
25,695,484 (GRCm39) |
missense |
unknown |
|
|
R8857:Trp63
|
UTSW |
16 |
25,639,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9041:Trp63
|
UTSW |
16 |
25,582,083 (GRCm39) |
missense |
probably benign |
|
|
R9123:Trp63
|
UTSW |
16 |
25,639,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9491:Trp63
|
UTSW |
16 |
25,695,472 (GRCm39) |
missense |
unknown |
|
|
R9642:Trp63
|
UTSW |
16 |
25,682,508 (GRCm39) |
missense |
probably benign |
0.35 |
|
Z1088:Trp63
|
UTSW |
16 |
25,582,063 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGAACAGTTCCGACATGCCATC -3'
(R):5'- AACAGGCAGCCTCCTAATTCTCCG -3'
Sequencing Primer
(F):5'- TTCCGACATGCCATCTGGAAG -3'
(R):5'- CGTCCCTTTAGAAACCAGACTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation