Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01078:Trp53inp1'

50862

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trp53inp1

Ensembl Gene

ENSMUSG00000028211

Gene Name

transformation related protein 53 inducible nuclear protein 1

Synonyms

Tp53inp1, SIP18, SIP27, 2700057G22Rik, Teap, SIP, Stinp

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.385) question?

Stock #

IGL01078

Quality Score

Status

Chromosome

Chromosomal Location

11156441-11174379 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11165369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 131 (V131D)

Ref Sequence

ENSEMBL: ENSMUSP00000029865 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029865]

AlphaFold

Q9QXE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000029865
AA Change: V131D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029865
Gene: ENSMUSG00000028211
AA Change: V131D

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

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cc2d1a	C	T	8: 84,866,894 (GRCm39)	V393M	possibly damaging	Het
Dpep3	G	A	8: 106,704,860 (GRCm39)	A150V	probably damaging	Het
Etl4	C	T	2: 20,811,342 (GRCm39)	R1510*	probably null	Het
Gm773	T	C	X: 55,242,013 (GRCm39)	E112G	probably damaging	Het
Hlcs	A	G	16: 93,934,019 (GRCm39)	I760T	probably damaging	Het
Mllt3	A	G	4: 87,798,297 (GRCm39)		probably benign	Het
Or5p56	T	A	7: 107,590,150 (GRCm39)	S193T	probably benign	Het
Plxna2	T	A	1: 194,469,001 (GRCm39)		probably benign	Het
Vmn2r117	A	G	17: 23,696,778 (GRCm39)	W210R	probably damaging	Het
Zfyve19	T	A	2: 119,046,981 (GRCm39)	C350*	probably null	Het

Other mutations in Trp53inp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2328:Trp53inp1	UTSW	4	11,164,495 (GRCm39)	missense	probably benign	0.10
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

Posted On

2013-06-21