Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02646:Api5'

301960

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Api5

Ensembl Gene

ENSMUSG00000027193

Gene Name

apoptosis inhibitor 5

Synonyms

AAC-11

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.909) question?

Stock #

IGL02646

Quality Score

Status

Chromosome

Chromosomal Location

94411682-94438136 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94429839 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 24 (H24L)

Ref Sequence

ENSEMBL: ENSMUSP00000028617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028617]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028617
AA Change: H24L

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028617
Gene: ENSMUSG00000027193
AA Change: H24L

Domain	Start	End	E-Value	Type
Pfam:API5	4	504	8.9e-201	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144390

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152454

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an apoptosis inhibitory protein whose expression prevents apoptosis after growth factor deprivation. This protein suppresses the transcription factor E2F1-induced apoptosis and also interacts with, and negatively regulates Acinus, a nuclear factor involved in apoptotic DNA fragmentation. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	A	4: 137,454,790	Y85*	probably null	Het
Abcg2	A	G	6: 58,685,696	I508V	probably benign	Het
Adgrb2	T	C	4: 130,019,282		probably null	Het
Apoh	T	C	11: 108,412,142	V311A	probably benign	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Brca2	G	T	5: 150,560,790	V2994L	possibly damaging	Het
Brd1	A	T	15: 88,700,877	V918D	probably damaging	Het
Calr3	T	G	8: 72,443,460	D43A	possibly damaging	Het
Cdh16	T	C	8: 104,622,105		probably null	Het
Cep192	T	C	18: 67,862,477	S2033P	probably damaging	Het
Dnah7a	G	A	1: 53,525,035	T1955M	probably damaging	Het
Dock10	T	A	1: 80,574,123	Y665F	probably damaging	Het
Dync1i1	A	G	6: 5,767,034	D86G	probably benign	Het
Eri2	T	C	7: 119,786,108	D390G	possibly damaging	Het
Fank1	C	T	7: 133,880,029		probably benign	Het
Hoxb7	A	T	11: 96,286,744	Y6F	possibly damaging	Het
Hspg2	A	C	4: 137,551,848	S3081R	possibly damaging	Het
Kcnt1	T	A	2: 25,900,880		probably benign	Het
Kdelc2	A	G	9: 53,384,251	D51G	probably benign	Het
Med13	A	G	11: 86,283,386	I1762T	probably benign	Het
Mia2	A	G	12: 59,108,836	D445G	probably damaging	Het
Olfr1099	T	C	2: 86,959,353	Y35C	probably damaging	Het
Plcg2	A	T	8: 117,603,883	I827F	possibly damaging	Het
Rnls	C	A	19: 33,138,284		probably benign	Het
Scn1a	A	T	2: 66,299,618		probably null	Het
Sec22b	T	A	3: 97,921,245	V208E	possibly damaging	Het
Slc8a3	A	T	12: 81,315,094	I317N	probably damaging	Het
Snx33	A	G	9: 56,926,759	Y9H	probably damaging	Het
Stard9	C	A	2: 120,698,992	T1910N	probably damaging	Het
Tas2r122	T	A	6: 132,711,790	I47F	probably damaging	Het
Tedc1	T	G	12: 113,157,301	L118V	possibly damaging	Het
Tln2	A	T	9: 67,255,996	S1090T	probably benign	Het
Tpcn2	T	C	7: 145,258,574	D511G	probably benign	Het
Usp21	T	C	1: 171,283,095		probably benign	Het
Vmn2r17	T	A	5: 109,453,080	L748Q	probably damaging	Het
Zp2	T	C	7: 120,135,341	D495G	possibly damaging	Het

Other mutations in Api5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01876:Api5	APN	2	94418954	splice site	probably benign
IGL02203:Api5	APN	2	94425074	missense	probably benign	0.00
IGL02346:Api5	APN	2	94427530	missense	possibly damaging	0.77
IGL02605:Api5	APN	2	94429719	missense	possibly damaging	0.88
R0018:Api5	UTSW	2	94420984	critical splice donor site	probably null
R0149:Api5	UTSW	2	94423497	nonsense	probably null
R0361:Api5	UTSW	2	94423497	nonsense	probably null
R1554:Api5	UTSW	2	94425643	missense	probably benign	0.14
R2507:Api5	UTSW	2	94429817	missense	probably damaging	1.00
R3723:Api5	UTSW	2	94425613	missense	possibly damaging	0.76
R3724:Api5	UTSW	2	94425613	missense	possibly damaging	0.76
R3737:Api5	UTSW	2	94425613	missense	possibly damaging	0.76
R3738:Api5	UTSW	2	94425613	missense	possibly damaging	0.76
R4035:Api5	UTSW	2	94425613	missense	possibly damaging	0.76
R4724:Api5	UTSW	2	94423471	missense	possibly damaging	0.95
R5306:Api5	UTSW	2	94423466	nonsense	probably null
R5337:Api5	UTSW	2	94425688	missense	possibly damaging	0.94
R6577:Api5	UTSW	2	94422381	missense	probably benign	0.24
R7031:Api5	UTSW	2	94425616	missense	probably benign	0.01
R7936:Api5	UTSW	2	94438047	start gained	probably benign

Posted On

2015-04-16