Mutagenetix > Incidental Mutation

Incidental Mutation 'R4035:Api5'

313651

Institutional Source

Beutler Lab

Gene Symbol

Api5

Ensembl Gene

ENSMUSG00000027193

Gene Name

apoptosis inhibitor 5

Synonyms

AAC-11

MMRRC Submission

041613-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R4035 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94242073-94268490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94255958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 243 (R243Q)

Ref Sequence

ENSEMBL: ENSMUSP00000028617 (fasta)

Gene Model

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

AlphaFold

O35841

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028617
AA Change: R243Q

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000028617
Gene: ENSMUSG00000027193
AA Change: R243Q

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

Meta Mutation Damage Score

0.1242

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	G	6: 124,333,879 (GRCm39)	F34L	probably benign	Het
Abcb8	A	G	5: 24,605,619 (GRCm39)	S168G	probably benign	Het
Ano5	A	G	7: 51,216,233 (GRCm39)		probably benign	Het
Bhlhe41	A	G	6: 145,808,754 (GRCm39)	S353P	probably benign	Het
Ccdc88c	G	A	12: 100,896,783 (GRCm39)	A1389V	possibly damaging	Het
Cep350	T	C	1: 155,835,541 (GRCm39)	T52A	probably benign	Het
Coro2b	A	G	9: 62,333,071 (GRCm39)		probably benign	Het
Ctcf	A	T	8: 106,390,789 (GRCm39)	E132V	possibly damaging	Het
Cwf19l2	A	T	9: 3,456,803 (GRCm39)	H712L	probably benign	Het
Cxcl2	A	T	5: 91,052,272 (GRCm39)	Q87L	possibly damaging	Het
Dop1a	T	C	9: 86,376,486 (GRCm39)	V240A	probably damaging	Het
Etfdh	C	T	3: 79,521,018 (GRCm39)	V294I	probably benign	Het
Fnip2	C	T	3: 79,386,808 (GRCm39)	V973I	probably benign	Het
Fyco1	T	C	9: 123,630,348 (GRCm39)	T1286A	probably benign	Het
Gbp10	T	A	5: 105,372,324 (GRCm39)	E145D	possibly damaging	Het
Gsdme	A	T	6: 50,206,428 (GRCm39)	N138K	possibly damaging	Het
Hcn4	A	G	9: 58,751,172 (GRCm39)	D266G	probably benign	Het
Henmt1	T	C	3: 108,866,001 (GRCm39)	V199A	probably damaging	Het
Hmcn2	A	T	2: 31,226,624 (GRCm39)	K200*	probably null	Het
Hmgcr	C	G	13: 96,787,571 (GRCm39)	L852F	probably damaging	Het
Ifi203	T	A	1: 173,757,040 (GRCm39)		probably benign	Het
Isl2	A	G	9: 55,449,754 (GRCm39)	S119G	probably benign	Het
Krba1	A	G	6: 48,388,614 (GRCm39)	N538D	probably damaging	Het
Lcorl	A	T	5: 45,891,383 (GRCm39)	N323K	possibly damaging	Het
Mfsd2b	A	G	12: 4,920,578 (GRCm39)	S80P	probably damaging	Het
Ndst4	C	T	3: 125,232,385 (GRCm39)	T318M	probably damaging	Het
Nlrp4f	T	C	13: 65,341,821 (GRCm39)	N608S	probably benign	Het
Nolc1	GCA	GCACCA	19: 46,069,797 (GRCm39)		probably benign	Het
Or6d12	A	G	6: 116,493,590 (GRCm39)	N284S	possibly damaging	Het
Or8b4	G	A	9: 37,829,937 (GRCm39)		probably benign	Het
Osbpl2	G	A	2: 179,803,353 (GRCm39)	R475H	probably damaging	Het
Ppfibp1	A	G	6: 146,898,334 (GRCm39)	K97E	probably damaging	Het
Pramel26	T	A	4: 143,537,026 (GRCm39)	D435V	probably benign	Het
Prpsap1	A	T	11: 116,363,834 (GRCm39)	M263K	probably benign	Het
Prtg	G	T	9: 72,749,991 (GRCm39)	E132*	probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rttn	T	C	18: 89,013,777 (GRCm39)	V482A	probably benign	Het
Samsn1	A	G	16: 75,706,073 (GRCm39)	M1T	probably null	Het
Scel	A	G	14: 103,767,440 (GRCm39)	N33S	probably damaging	Het
Sema4g	A	T	19: 44,989,853 (GRCm39)	Y644F	probably damaging	Het
Slc39a10	G	A	1: 46,851,234 (GRCm39)	T752M	probably damaging	Het
Snx27	T	C	3: 94,431,551 (GRCm39)	D281G	probably damaging	Het
Spesp1	T	A	9: 62,180,318 (GRCm39)	I197L	probably benign	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Tpgs1	A	G	10: 79,505,199 (GRCm39)		probably null	Het
Trpc2	G	A	7: 101,733,711 (GRCm39)	S220N	probably damaging	Het
Ttk	C	A	9: 83,736,890 (GRCm39)	P450T	possibly damaging	Het
Ttn	T	G	2: 76,740,165 (GRCm39)	Q3458P	probably benign	Het
Ube2z	A	G	11: 95,951,893 (GRCm39)	F152L	probably damaging	Het
Utp20	C	T	10: 88,598,668 (GRCm39)	V103I	probably benign	Het
Zfa-ps	T	A	10: 52,420,636 (GRCm39)		noncoding transcript	Het
Zfp267	T	G	3: 36,218,989 (GRCm39)	H337Q	possibly damaging	Het

Other mutations in Api5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01876:Api5	APN	2	94,249,299 (GRCm39)	splice site	probably benign
IGL02203:Api5	APN	2	94,255,419 (GRCm39)	missense	probably benign	0.00
IGL02346:Api5	APN	2	94,257,875 (GRCm39)	missense	possibly damaging	0.77
IGL02605:Api5	APN	2	94,260,064 (GRCm39)	missense	possibly damaging	0.88
IGL02646:Api5	APN	2	94,260,184 (GRCm39)	missense	possibly damaging	0.62
R0018:Api5	UTSW	2	94,251,329 (GRCm39)	critical splice donor site	probably null
R0149:Api5	UTSW	2	94,253,842 (GRCm39)	nonsense	probably null
R0361:Api5	UTSW	2	94,253,842 (GRCm39)	nonsense	probably null
R1554:Api5	UTSW	2	94,255,988 (GRCm39)	missense	probably benign	0.14
R2507:Api5	UTSW	2	94,260,162 (GRCm39)	missense	probably damaging	1.00
R3723:Api5	UTSW	2	94,255,958 (GRCm39)	missense	possibly damaging	0.76
R3724:Api5	UTSW	2	94,255,958 (GRCm39)	missense	possibly damaging	0.76
R3737:Api5	UTSW	2	94,255,958 (GRCm39)	missense	possibly damaging	0.76
R3738:Api5	UTSW	2	94,255,958 (GRCm39)	missense	possibly damaging	0.76
R4724:Api5	UTSW	2	94,253,816 (GRCm39)	missense	possibly damaging	0.95
R5306:Api5	UTSW	2	94,253,811 (GRCm39)	nonsense	probably null
R5337:Api5	UTSW	2	94,256,033 (GRCm39)	missense	possibly damaging	0.94
R6577:Api5	UTSW	2	94,252,726 (GRCm39)	missense	probably benign	0.24
R7031:Api5	UTSW	2	94,255,961 (GRCm39)	missense	probably benign	0.01
R7936:Api5	UTSW	2	94,268,392 (GRCm39)	start gained	probably benign
R8921:Api5	UTSW	2	94,255,374 (GRCm39)	missense	probably damaging	1.00
R9711:Api5	UTSW	2	94,251,812 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AAATGTCTTGCTGCCTTGGG -3'
(R):5'- AAATGCTGTTCTTCTCGATTGCG -3'

Sequencing Primer
(F):5'- TGGGTTCTTCCAGTGCCGC -3'
(R):5'- TTCTAGGTCCTAGAAGACGTGAC -3'

Posted On

2015-04-30