Incidental Mutation 'R1348:Trp53tg5'
| ID |
156552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trp53tg5
|
| Ensembl Gene |
ENSMUSG00000017720 |
| Gene Name |
transformation related protein 53 target 5 |
| Synonyms |
1700126L10Rik |
| MMRRC Submission |
039413-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R1348 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
164312221-164315644 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 164315521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017864]
[ENSMUST00000125086]
[ENSMUST00000138268]
[ENSMUST00000142892]
[ENSMUST00000164863]
|
| AlphaFold |
Q9D976 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000017864
|
| SMART Domains |
Protein: ENSMUSP00000017864
Gene: ENSMUSG00000017720
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TP53IP5
|
28 |
238 |
2e-97 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125086
|
| SMART Domains |
Protein: ENSMUSP00000121900
Gene: ENSMUSG00000045503
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SYS1
|
5 |
148 |
9.2e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138268
|
| SMART Domains |
Protein: ENSMUSP00000117507
Gene: ENSMUSG00000045503
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SYS1
|
5 |
76 |
1.4e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142892
|
| SMART Domains |
Protein: ENSMUSP00000114360
Gene: ENSMUSG00000045503
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SYS1
|
5 |
76 |
1.4e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164863
|
| SMART Domains |
Protein: ENSMUSP00000126658
Gene: ENSMUSG00000090996
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SYS1
|
5 |
78 |
6.7e-22 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.2%
- 20x: 87.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
G |
17: 24,593,212 (GRCm39) |
|
probably null |
Het |
| Art1 |
G |
A |
7: 101,756,579 (GRCm39) |
A33T |
possibly damaging |
Het |
| Aspa |
G |
A |
11: 73,215,309 (GRCm39) |
T2I |
probably damaging |
Het |
| Cntn1 |
C |
T |
15: 92,212,544 (GRCm39) |
T902I |
probably damaging |
Het |
| Dpep1 |
G |
A |
8: 123,925,899 (GRCm39) |
C118Y |
probably benign |
Het |
| Garin1a |
A |
G |
6: 29,283,284 (GRCm39) |
H36R |
probably benign |
Het |
| Gucy2g |
C |
T |
19: 55,211,338 (GRCm39) |
V631I |
possibly damaging |
Het |
| Igf1r |
C |
G |
7: 67,868,216 (GRCm39) |
N1220K |
probably damaging |
Het |
| Insr |
A |
T |
8: 3,242,635 (GRCm39) |
I28N |
probably damaging |
Het |
| Katnal2 |
T |
C |
18: 77,066,238 (GRCm39) |
|
probably null |
Het |
| Klrb1a |
T |
C |
6: 128,586,797 (GRCm39) |
D156G |
possibly damaging |
Het |
| Kpna6 |
G |
A |
4: 129,555,152 (GRCm39) |
R26* |
probably null |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Naa15 |
C |
G |
3: 51,373,091 (GRCm39) |
C661W |
probably damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,124 (GRCm39) |
I6T |
probably benign |
Het |
| Or1e1 |
G |
T |
11: 73,244,682 (GRCm39) |
M34I |
probably benign |
Het |
| Or8g20 |
A |
G |
9: 39,396,532 (GRCm39) |
S3P |
probably benign |
Het |
| Paxbp1 |
A |
G |
16: 90,831,904 (GRCm39) |
V328A |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,784,806 (GRCm39) |
T1993A |
probably benign |
Het |
| Pold1 |
C |
T |
7: 44,184,106 (GRCm39) |
V865I |
probably benign |
Het |
| Racgap1 |
A |
G |
15: 99,524,246 (GRCm39) |
I387T |
possibly damaging |
Het |
| Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
| Rbms2 |
C |
T |
10: 128,012,214 (GRCm39) |
|
probably null |
Het |
| Recql4 |
A |
G |
15: 76,593,411 (GRCm39) |
I140T |
probably benign |
Het |
| Shld2 |
T |
A |
14: 33,990,880 (GRCm39) |
I9F |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,911,708 (GRCm39) |
|
probably null |
Het |
| Speg |
G |
A |
1: 75,399,516 (GRCm39) |
G2321D |
probably damaging |
Het |
| Tyw3 |
A |
C |
3: 154,299,451 (GRCm39) |
M86R |
possibly damaging |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
| Zfp472 |
T |
A |
17: 33,196,794 (GRCm39) |
F290I |
probably benign |
Het |
|
| Other mutations in Trp53tg5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02387:Trp53tg5
|
APN |
2 |
164,313,376 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0538:Trp53tg5
|
UTSW |
2 |
164,313,401 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2216:Trp53tg5
|
UTSW |
2 |
164,313,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2423:Trp53tg5
|
UTSW |
2 |
164,313,250 (GRCm39) |
nonsense |
probably null |
|
|
R3034:Trp53tg5
|
UTSW |
2 |
164,313,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5569:Trp53tg5
|
UTSW |
2 |
164,313,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5842:Trp53tg5
|
UTSW |
2 |
164,313,289 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6021:Trp53tg5
|
UTSW |
2 |
164,313,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7206:Trp53tg5
|
UTSW |
2 |
164,313,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7366:Trp53tg5
|
UTSW |
2 |
164,313,027 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9705:Trp53tg5
|
UTSW |
2 |
164,313,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTGAGTACGGTCTGAGCAGTCC -3'
(R):5'- AGTCCTGATGCTGTCGCACATTTC -3'
Sequencing Primer
(F):5'- TCTGAGCAGTCCTAGACTGGAG -3'
(R):5'- CTCCAGCACCATCCTATGTT -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation