Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02934:Perp'

364236

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Perp

Ensembl Gene

ENSMUSG00000019851

Gene Name

PERP, TP53 apoptosis effector

Synonyms

PIGPC1, KRTCAP1, 1110017A08Rik, KCP1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

IGL02934

Quality Score

Status

Chromosome

Chromosomal Location

18720819-18732821 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18731520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 160 (T160S)

Ref Sequence

ENSEMBL: ENSMUSP00000019998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019998]

AlphaFold

Q9JK95

Predicted Effect

probably damaging
Transcript: ENSMUST00000019998
AA Change: T160S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019998
Gene: ENSMUSG00000019851
AA Change: T160S

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	14	169	1.1e-13	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous inactivation of this locus results in increased lethality during the postnatal period. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 121,956,008 (GRCm39)	R716*	probably null	Het
Abca8a	A	T	11: 109,931,414 (GRCm39)	N1246K	probably damaging	Het
Acadl	A	G	1: 66,876,134 (GRCm39)	Y396H	probably benign	Het
Apol7c	A	T	15: 77,410,318 (GRCm39)	S209R	possibly damaging	Het
Atp1a1	A	T	3: 101,484,308 (GRCm39)	C990*	probably null	Het
Cachd1	C	T	4: 100,825,295 (GRCm39)	S583L	probably damaging	Het
Cbfa2t3	T	C	8: 123,374,497 (GRCm39)	T48A	probably benign	Het
Ccdc138	G	T	10: 58,409,402 (GRCm39)		probably benign	Het
Cenpe	A	G	3: 134,970,112 (GRCm39)	E2231G	probably damaging	Het
Cog3	T	C	14: 75,979,129 (GRCm39)	I206V	probably damaging	Het
Cr2	A	G	1: 194,836,633 (GRCm39)		probably benign	Het
Ctdspl2	T	C	2: 121,809,490 (GRCm39)	V147A	probably damaging	Het
Cyp4f13	A	G	17: 33,148,845 (GRCm39)	V300A	probably damaging	Het
Dkk3	A	T	7: 111,749,954 (GRCm39)	M72K	probably damaging	Het
Dock3	A	T	9: 106,900,944 (GRCm39)	F340L	probably benign	Het
Fut1	A	G	7: 45,268,127 (GRCm39)	H27R	possibly damaging	Het
Igkv4-80	A	G	6: 68,993,840 (GRCm39)	V17A	probably benign	Het
Igkv9-123	G	A	6: 67,931,380 (GRCm39)	P62L	possibly damaging	Het
Kmt2e	T	C	5: 23,702,882 (GRCm39)	S1021P	probably damaging	Het
Krt13	A	C	11: 100,009,910 (GRCm39)	L320R	probably damaging	Het
Ldhal6b	T	C	17: 5,467,819 (GRCm39)	T372A	probably benign	Het
Manba	T	C	3: 135,250,510 (GRCm39)	V379A	probably benign	Het
Map1b	C	T	13: 99,571,639 (GRCm39)	V361I	probably benign	Het
Map4k1	A	G	7: 28,693,531 (GRCm39)	S399G	probably benign	Het
Mff	G	A	1: 82,724,815 (GRCm39)	R229H	probably damaging	Het
Naga	T	C	15: 82,214,401 (GRCm39)	N370S	possibly damaging	Het
Ncor2	A	T	5: 125,102,621 (GRCm39)	M2045K	probably benign	Het
Nipal1	T	C	5: 72,805,250 (GRCm39)	L7P	probably damaging	Het
Or10p22	T	A	10: 128,825,958 (GRCm39)	M59K	probably damaging	Het
Pcmt1	A	T	10: 7,516,491 (GRCm39)	M187K	probably benign	Het
Rapgef6	G	A	11: 54,516,690 (GRCm39)	D169N	probably damaging	Het
Sel1l	G	A	12: 91,776,710 (GRCm39)	Q711*	probably null	Het
Septin5	T	C	16: 18,448,581 (GRCm39)	Y7C	probably damaging	Het
Spdya	A	T	17: 71,863,395 (GRCm39)	N48I	probably benign	Het
Stard6	T	A	18: 70,629,175 (GRCm39)		probably benign	Het
Sytl2	T	C	7: 90,025,200 (GRCm39)	V396A	probably benign	Het
Tcaf3	T	G	6: 42,570,832 (GRCm39)	M307L	probably benign	Het
Tdrd6	T	C	17: 43,938,778 (GRCm39)	N757D	probably benign	Het
Tgm1	T	A	14: 55,947,446 (GRCm39)	D305V	probably damaging	Het
Themis2	T	A	4: 132,516,862 (GRCm39)	M213L	probably damaging	Het
Tmem184c	A	G	8: 78,324,449 (GRCm39)	V347A	probably damaging	Het
Tmem214	A	G	5: 31,028,888 (GRCm39)	E159G	probably benign	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Tshz1	A	T	18: 84,031,215 (GRCm39)	S1064R	probably damaging	Het
Ubr2	C	T	17: 47,268,266 (GRCm39)	E983K	possibly damaging	Het
Vmn1r23	A	T	6: 57,902,914 (GRCm39)	I288N	probably benign	Het
Vmn2r97	T	C	17: 19,149,947 (GRCm39)	V445A	probably benign	Het
Whrn	G	A	4: 63,334,342 (GRCm39)	T813M	probably damaging	Het
Xirp2	C	T	2: 67,346,020 (GRCm39)	H2754Y	probably benign	Het

Other mutations in Perp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01595:Perp	APN	10	18,731,407 (GRCm39)	missense	probably damaging	1.00
R1195:Perp	UTSW	10	18,731,483 (GRCm39)	nonsense	probably null
R1195:Perp	UTSW	10	18,731,483 (GRCm39)	nonsense	probably null
R1195:Perp	UTSW	10	18,731,483 (GRCm39)	nonsense	probably null
R6329:Perp	UTSW	10	18,731,503 (GRCm39)	missense	probably damaging	1.00
R6329:Perp	UTSW	10	18,731,502 (GRCm39)	missense	probably damaging	1.00
R8948:Perp	UTSW	10	18,729,326 (GRCm39)	missense	possibly damaging	0.88
Z1177:Perp	UTSW	10	18,731,443 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18