Incidental Mutation 'R2328:Trp53inp1'
| ID |
245749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trp53inp1
|
| Ensembl Gene |
ENSMUSG00000028211 |
| Gene Name |
transformation related protein 53 inducible nuclear protein 1 |
| Synonyms |
Tp53inp1, SIP18, SIP27, 2700057G22Rik, Teap, SIP, Stinp |
| MMRRC Submission |
040319-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.385)
|
| Stock # |
R2328 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
11156441-11174379 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11164495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 13
(V13A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029865]
|
| AlphaFold |
Q9QXE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029865
AA Change: V13A
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000029865
Gene: ENSMUSG00000028211
AA Change: V13A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DOR
|
24 |
235 |
4.8e-84 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132010
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132693
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased plasma and colon oxidative stress, and show increased susceptibility to experimental induction of colorectal tumorigenesis and acute colitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
A |
4: 144,182,502 (GRCm39) |
Y322F |
probably benign |
Het |
| Abca5 |
T |
C |
11: 110,167,347 (GRCm39) |
T1490A |
probably damaging |
Het |
| Akap1 |
A |
G |
11: 88,735,870 (GRCm39) |
V264A |
possibly damaging |
Het |
| Cggbp1 |
A |
G |
16: 64,676,366 (GRCm39) |
D144G |
probably benign |
Het |
| Cubn |
C |
A |
2: 13,408,891 (GRCm39) |
G1352* |
probably null |
Het |
| Cyfip1 |
T |
A |
7: 55,544,739 (GRCm39) |
M457K |
possibly damaging |
Het |
| Dag1 |
T |
C |
9: 108,086,451 (GRCm39) |
N230S |
probably damaging |
Het |
| Dbh |
T |
C |
2: 27,055,742 (GRCm39) |
V72A |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,850,421 (GRCm39) |
S4218P |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 31,013,718 (GRCm39) |
I3820F |
probably damaging |
Het |
| Erbb3 |
C |
T |
10: 128,419,562 (GRCm39) |
C186Y |
probably damaging |
Het |
| Foxd1 |
T |
C |
13: 98,491,660 (GRCm39) |
I178T |
probably damaging |
Het |
| Gpc5 |
C |
T |
14: 116,025,591 (GRCm39) |
R470W |
probably damaging |
Het |
| Hace1 |
G |
T |
10: 45,525,041 (GRCm39) |
R269L |
probably benign |
Het |
| Inpp5a |
A |
T |
7: 139,058,010 (GRCm39) |
K73* |
probably null |
Het |
| Or10d5j |
A |
G |
9: 39,868,196 (GRCm39) |
F24L |
possibly damaging |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,976,940 (GRCm39) |
|
probably benign |
Het |
| Pzp |
T |
C |
6: 128,487,353 (GRCm39) |
I504V |
possibly damaging |
Het |
| Scgb1b19 |
T |
A |
7: 32,987,911 (GRCm39) |
C93S |
probably damaging |
Het |
| Setx |
TGTGG |
T |
2: 29,044,072 (GRCm39) |
|
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slamf6 |
G |
A |
1: 171,761,818 (GRCm39) |
V80I |
probably benign |
Het |
| Snapc3 |
T |
A |
4: 83,353,514 (GRCm39) |
Y184* |
probably null |
Het |
| Spg21 |
T |
C |
9: 65,394,155 (GRCm39) |
I284T |
possibly damaging |
Het |
| Tas2r123 |
A |
T |
6: 132,824,279 (GRCm39) |
T59S |
probably benign |
Het |
| Trip11 |
T |
G |
12: 101,845,086 (GRCm39) |
*139C |
probably null |
Het |
| Wtap |
C |
T |
17: 13,186,425 (GRCm39) |
R374Q |
possibly damaging |
Het |
| Ydjc |
A |
G |
16: 16,964,986 (GRCm39) |
E47G |
possibly damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,835,122 (GRCm39) |
D86G |
possibly damaging |
Het |
|
| Other mutations in Trp53inp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01078:Trp53inp1
|
APN |
4 |
11,165,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4884:Trp53inp1
|
UTSW |
4 |
11,165,130 (GRCm39) |
missense |
probably benign |
|
|
R5254:Trp53inp1
|
UTSW |
4 |
11,165,075 (GRCm39) |
splice site |
probably null |
|
|
R5375:Trp53inp1
|
UTSW |
4 |
11,165,305 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7555:Trp53inp1
|
UTSW |
4 |
11,169,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8007:Trp53inp1
|
UTSW |
4 |
11,164,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8325:Trp53inp1
|
UTSW |
4 |
11,164,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGATGATGACTCTTCTTGC -3'
(R):5'- GCCCCAGAAGTTCCCACTTTTG -3'
Sequencing Primer
(F):5'- GCTCTTCATCTAAGTTGAAGAAACAC -3'
(R):5'- GAAGTTCCCACTTTTGAGCCAAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation