Incidental Mutation 'R4595:Trp73'
| ID |
344315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trp73
|
| Ensembl Gene |
ENSMUSG00000029026 |
| Gene Name |
transformation related protein 73 |
| Synonyms |
deltaNp73, TAp73, p73 |
| MMRRC Submission |
041811-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.665)
|
| Stock # |
R4595 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
154140706-154224332 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 154148874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 245
(I245T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097762]
[ENSMUST00000097763]
[ENSMUST00000105643]
[ENSMUST00000105644]
[ENSMUST00000133533]
[ENSMUST00000139634]
[ENSMUST00000155642]
|
| AlphaFold |
Q9JJP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097762
AA Change: I245T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095368
Gene: ENSMUSG00000029026
AA Change: I245T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P53
|
64 |
260 |
2.6e-111 |
PFAM |
|
Pfam:P53_tetramer
|
296 |
337 |
8.5e-21 |
PFAM |
|
low complexity region
|
342 |
350 |
N/A |
INTRINSIC |
|
Pfam:SAM_2
|
352 |
406 |
1.3e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097763
AA Change: I245T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134196
Gene: ENSMUSG00000029026
AA Change: I245T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P53
|
64 |
260 |
6.4e-112 |
PFAM |
|
Pfam:P53_tetramer
|
296 |
337 |
2.3e-21 |
PFAM |
|
low complexity region
|
341 |
362 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105643
AA Change: I245T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101268
Gene: ENSMUSG00000029026
AA Change: I245T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P53
|
64 |
260 |
2.1e-111 |
PFAM |
|
Pfam:P53_tetramer
|
296 |
337 |
7.6e-21 |
PFAM |
|
low complexity region
|
342 |
350 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105644
AA Change: I293T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101269
Gene: ENSMUSG00000029026
AA Change: I293T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P53
|
112 |
308 |
3.1e-115 |
PFAM |
|
Pfam:P53_tetramer
|
344 |
383 |
8.3e-21 |
PFAM |
|
low complexity region
|
390 |
398 |
N/A |
INTRINSIC |
|
SAM
|
486 |
552 |
2.71e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133533
AA Change: I245T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114418
Gene: ENSMUSG00000029026
AA Change: I245T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P53
|
64 |
260 |
3.8e-111 |
PFAM |
|
Pfam:P53_tetramer
|
296 |
337 |
1.1e-20 |
PFAM |
|
low complexity region
|
342 |
350 |
N/A |
INTRINSIC |
|
SAM
|
438 |
504 |
2.71e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139634
|
| SMART Domains |
Protein: ENSMUSP00000114736
Gene: ENSMUSG00000029026
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
27 |
N/A |
INTRINSIC |
|
Pfam:P53
|
152 |
204 |
3.1e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155642
|
| SMART Domains |
Protein: ENSMUSP00000135281
Gene: ENSMUSG00000029026
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P53
|
42 |
213 |
1.3e-94 |
PFAM |
|
| Meta Mutation Damage Score |
0.9445 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
94% (62/66) |
| MGI Phenotype |
FUNCTION: This gene encodes tumor protein p73, which is a member of the p53 family of transcription factors involved in cellular responses to stress and development. The family members include p53, p63, and p73 and have high sequence similarity to one another, which 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 involving direct or indirect protein interactions, resulting in regulation of the same target gene promoters or regulation of each other's promoters. The p73 protein is expressed at very low levels in normal tissues and is differentially expressed in a number of tumors. The p73 gene expresses at least 35 mRNA variants due to the use of alternate promoters, alternate translation initiation sites, and multiple splice variations. Theoretically this can account for 29 different p73 isoforms; however, the biological validity and the full-length nature of most variants have not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice display a variety of defects including hippocampal dysgenesis, hydrocephalus, chronic infections and inflammation, abnormal pheromone sensory pathways, eye abnormalities, impaired growth, and female infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 4921536K21Rik |
A |
G |
11: 3,840,052 (GRCm39) |
I115T |
probably benign |
Het |
| Acads |
A |
T |
5: 115,251,123 (GRCm39) |
N120K |
probably damaging |
Het |
| Aco1 |
T |
A |
4: 40,167,139 (GRCm39) |
C118S |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,422,819 (GRCm39) |
T1493A |
probably damaging |
Het |
| AU018091 |
A |
G |
7: 3,208,268 (GRCm39) |
Y480H |
possibly damaging |
Het |
| Brd4 |
A |
T |
17: 32,417,896 (GRCm39) |
I86N |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,945,023 (GRCm39) |
E1477G |
probably damaging |
Het |
| Ccne2 |
A |
G |
4: 11,202,986 (GRCm39) |
N368S |
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,794,710 (GRCm39) |
F152L |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,232,320 (GRCm39) |
D881V |
possibly damaging |
Het |
| Chmp7 |
A |
G |
14: 69,958,678 (GRCm39) |
V212A |
probably damaging |
Het |
| Col9a2 |
A |
T |
4: 120,902,352 (GRCm39) |
K196N |
probably benign |
Het |
| Copg2 |
T |
C |
6: 30,749,449 (GRCm39) |
D814G |
probably damaging |
Het |
| Dcaf13 |
G |
A |
15: 38,982,288 (GRCm39) |
G85R |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 66,058,978 (GRCm39) |
S106P |
probably benign |
Het |
| Dpp8 |
A |
G |
9: 64,983,085 (GRCm39) |
D739G |
probably damaging |
Het |
| Drd2 |
T |
A |
9: 49,316,089 (GRCm39) |
M283K |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,207,159 (GRCm39) |
T208A |
probably benign |
Het |
| Glul |
G |
A |
1: 153,778,796 (GRCm39) |
G35D |
possibly damaging |
Het |
| Gm14412 |
T |
C |
2: 177,007,005 (GRCm39) |
K297E |
unknown |
Het |
| Gm21976 |
A |
T |
13: 98,442,318 (GRCm39) |
R120W |
probably damaging |
Het |
| Hipk3 |
T |
A |
2: 104,271,622 (GRCm39) |
T437S |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lipn |
T |
G |
19: 34,058,750 (GRCm39) |
Y321D |
probably damaging |
Het |
| Lrwd1 |
A |
G |
5: 136,152,810 (GRCm39) |
V484A |
probably benign |
Het |
| Madd |
T |
C |
2: 90,998,009 (GRCm39) |
D673G |
possibly damaging |
Het |
| Marveld1 |
T |
A |
19: 42,136,203 (GRCm39) |
L39Q |
probably damaging |
Het |
| Mfsd2b |
T |
C |
12: 4,915,807 (GRCm39) |
T299A |
possibly damaging |
Het |
| Micu3 |
T |
C |
8: 40,812,438 (GRCm39) |
|
probably benign |
Het |
| Mmp7 |
T |
C |
9: 7,697,667 (GRCm39) |
V234A |
probably damaging |
Het |
| Nhsl1 |
T |
A |
10: 18,403,357 (GRCm39) |
D1329E |
probably benign |
Het |
| Or4a15 |
C |
T |
2: 89,193,669 (GRCm39) |
V35M |
probably damaging |
Het |
| Or4f14b |
T |
C |
2: 111,774,997 (GRCm39) |
D268G |
possibly damaging |
Het |
| Or52a33 |
A |
G |
7: 103,289,308 (GRCm39) |
F13S |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,647,568 (GRCm39) |
D232E |
probably damaging |
Het |
| Pebp1 |
G |
T |
5: 117,421,475 (GRCm39) |
D156E |
probably benign |
Het |
| Pik3cb |
A |
G |
9: 98,937,459 (GRCm39) |
Y745H |
possibly damaging |
Het |
| Pld2 |
T |
C |
11: 70,432,846 (GRCm39) |
L170P |
probably damaging |
Het |
| Ptch1 |
T |
C |
13: 63,691,422 (GRCm39) |
D277G |
possibly damaging |
Het |
| Rab11fip1 |
A |
T |
8: 27,644,603 (GRCm39) |
M394K |
probably damaging |
Het |
| Rhoq |
T |
C |
17: 87,271,754 (GRCm39) |
Y57H |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,731 (GRCm39) |
I979V |
probably benign |
Het |
| Slc6a4 |
A |
G |
11: 76,910,689 (GRCm39) |
I447V |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,663,663 (GRCm39) |
K607R |
probably damaging |
Het |
| Stt3a |
T |
C |
9: 36,646,808 (GRCm39) |
I602V |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 76,013,845 (GRCm39) |
Q3012L |
possibly damaging |
Het |
| Taf1b |
T |
A |
12: 24,550,441 (GRCm39) |
F9I |
possibly damaging |
Het |
| Tex35 |
T |
A |
1: 156,926,909 (GRCm39) |
Y195F |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,913,982 (GRCm39) |
T1277A |
probably damaging |
Het |
| Tnfsf15 |
G |
T |
4: 63,648,180 (GRCm39) |
Y153* |
probably null |
Het |
| Trim5 |
C |
A |
7: 103,914,639 (GRCm39) |
V477F |
probably damaging |
Het |
| Zbtb16 |
C |
T |
9: 48,743,380 (GRCm39) |
E311K |
possibly damaging |
Het |
| Zmynd19 |
A |
G |
2: 24,849,000 (GRCm39) |
D165G |
probably damaging |
Het |
|
| Other mutations in Trp73 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02150:Trp73
|
APN |
4 |
154,165,943 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02264:Trp73
|
APN |
4 |
154,148,885 (GRCm39) |
missense |
probably null |
0.98 |
|
IGL02344:Trp73
|
APN |
4 |
154,146,500 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02663:Trp73
|
APN |
4 |
154,146,963 (GRCm39) |
splice site |
probably null |
|
|
IGL02956:Trp73
|
APN |
4 |
154,148,920 (GRCm39) |
splice site |
probably benign |
|
|
IGL03093:Trp73
|
APN |
4 |
154,189,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
slowpoke
|
UTSW |
4 |
154,149,089 (GRCm39) |
splice site |
probably null |
|
|
R0238:Trp73
|
UTSW |
4 |
154,146,981 (GRCm39) |
unclassified |
probably benign |
|
|
R0238:Trp73
|
UTSW |
4 |
154,146,981 (GRCm39) |
unclassified |
probably benign |
|
|
R0363:Trp73
|
UTSW |
4 |
154,148,406 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0409:Trp73
|
UTSW |
4 |
154,148,841 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1161:Trp73
|
UTSW |
4 |
154,165,780 (GRCm39) |
splice site |
probably null |
|
|
R1531:Trp73
|
UTSW |
4 |
154,148,352 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2002:Trp73
|
UTSW |
4 |
154,165,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2185:Trp73
|
UTSW |
4 |
154,189,274 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3965:Trp73
|
UTSW |
4 |
154,146,493 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3966:Trp73
|
UTSW |
4 |
154,146,493 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4247:Trp73
|
UTSW |
4 |
154,149,089 (GRCm39) |
splice site |
probably null |
|
|
R5170:Trp73
|
UTSW |
4 |
154,189,295 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5260:Trp73
|
UTSW |
4 |
154,147,059 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5622:Trp73
|
UTSW |
4 |
154,145,049 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6173:Trp73
|
UTSW |
4 |
154,188,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6252:Trp73
|
UTSW |
4 |
154,148,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6950:Trp73
|
UTSW |
4 |
154,146,510 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7043:Trp73
|
UTSW |
4 |
154,151,464 (GRCm39) |
splice site |
probably null |
|
|
R7050:Trp73
|
UTSW |
4 |
154,165,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7052:Trp73
|
UTSW |
4 |
154,149,140 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7620:Trp73
|
UTSW |
4 |
154,143,714 (GRCm39) |
nonsense |
probably null |
|
|
R8086:Trp73
|
UTSW |
4 |
154,201,052 (GRCm39) |
missense |
unknown |
|
|
R9034:Trp73
|
UTSW |
4 |
154,152,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9647:Trp73
|
UTSW |
4 |
154,165,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9671:Trp73
|
UTSW |
4 |
154,148,403 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9746:Trp73
|
UTSW |
4 |
154,165,859 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Trp73
|
UTSW |
4 |
154,151,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTTGGCACCTTTGGAG -3'
(R):5'- TGTCATCATCACCCTGGAGACC -3'
Sequencing Primer
(F):5'- CACCTTTGGAGCAGGTACTC -3'
(R):5'- AGACCCGGGAGTGAGTCTG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation