Mutagenetix > Incidental Mutation

Incidental Mutation 'R7936:Api5'

648714

Institutional Source

Beutler Lab

Gene Symbol

Api5

Ensembl Gene

ENSMUSG00000027193

Gene Name

apoptosis inhibitor 5

Synonyms

AAC-11

MMRRC Submission

045982-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R7936 (G1)

Quality Score

120.008

Status

Validated

Chromosome

Chromosomal Location

94242073-94268490 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 94268392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028617 (fasta)

Gene Model

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

AlphaFold

O35841

Predicted Effect

probably benign
Transcript: ENSMUST00000028617

SMART Domains

Protein: ENSMUSP00000028617
Gene: ENSMUSG00000027193

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (64/64)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	A	6: 91,900,445 (GRCm39)	L438*	probably null	Het
Adamts18	T	A	8: 114,493,760 (GRCm39)	I460F	probably damaging	Het
Arap2	A	G	5: 62,888,048 (GRCm39)	S433P	probably damaging	Het
Arhgap26	T	C	18: 39,338,340 (GRCm39)	Y371H	probably damaging	Het
Asf1b	T	C	8: 84,695,848 (GRCm39)	I163T	probably benign	Het
Cacna2d2	A	G	9: 107,401,326 (GRCm39)	N696S	probably damaging	Het
Carns1	A	C	19: 4,216,152 (GRCm39)	S677A	probably benign	Het
Cd276	G	A	9: 58,448,113 (GRCm39)		probably benign	Het
Cdk8	T	A	5: 146,236,644 (GRCm39)	M353K	possibly damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Chsy3	A	G	18: 59,542,418 (GRCm39)	I519V	probably damaging	Het
Chtop	T	C	3: 90,414,658 (GRCm39)		probably benign	Het
Clstn3	T	A	6: 124,408,972 (GRCm39)	D892V	possibly damaging	Het
Col16a1	A	T	4: 129,990,664 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,345,983 (GRCm39)	E2441G	possibly damaging	Het
Dpy19l2	T	G	9: 24,469,454 (GRCm39)	D734A	probably damaging	Het
Dusp2	T	A	2: 127,178,812 (GRCm39)	Y172*	probably null	Het
Efcab3	A	G	11: 104,890,524 (GRCm39)	N4202S	possibly damaging	Het
Efcab3	G	A	11: 104,937,385 (GRCm39)		probably null	Het
Eml4	G	A	17: 83,781,115 (GRCm39)	R771Q	possibly damaging	Het
Fat2	T	A	11: 55,200,993 (GRCm39)	M694L	probably benign	Het
Fat2	C	A	11: 55,201,986 (GRCm39)	E363*	probably null	Het
Gdpgp1	A	G	7: 79,888,826 (GRCm39)	I286V	probably damaging	Het
Gps1	T	A	11: 120,677,199 (GRCm39)	V166E	probably damaging	Het
H60b	T	A	10: 22,162,055 (GRCm39)	N93K	probably benign	Het
Imp4	C	T	1: 34,482,114 (GRCm39)	T79I	probably benign	Het
Kank3	A	G	17: 34,037,841 (GRCm39)	S485G	probably benign	Het
Kcnv2	A	G	19: 27,300,167 (GRCm39)	N6S	probably benign	Het
Krba1	A	T	6: 48,388,603 (GRCm39)	Q534L	probably damaging	Het
Lgr4	A	G	2: 109,836,863 (GRCm39)	N399S	probably damaging	Het
Lgr5	A	G	10: 115,288,952 (GRCm39)	V564A	probably damaging	Het
Lrtm2	A	G	6: 119,297,394 (GRCm39)	F216L	probably benign	Het
Lsm8	T	A	6: 18,849,658 (GRCm39)	M22K	probably benign	Het
Mboat2	C	T	12: 25,005,392 (GRCm39)	T389M	probably damaging	Het
Mcoln1	T	G	8: 3,555,924 (GRCm39)	I73S	probably damaging	Het
Myh7	T	A	14: 55,216,920 (GRCm39)	I1146F	possibly damaging	Het
Naa16	G	A	14: 79,578,486 (GRCm39)	T666I	possibly damaging	Het
Ncoa1	A	G	12: 4,385,873 (GRCm39)	S88P	possibly damaging	Het
Obscn	T	C	11: 58,941,334 (GRCm39)	T4496A	possibly damaging	Het
Or13a28	T	C	7: 140,217,652 (GRCm39)	F13L	probably damaging	Het
Or7a35	T	A	10: 78,853,872 (GRCm39)	F239I	probably damaging	Het
Pdxk	G	T	10: 78,277,012 (GRCm39)	A262D	possibly damaging	Het
Pebp4	T	A	14: 70,089,082 (GRCm39)	L68Q	probably damaging	Het
Pfdn5	C	T	15: 102,236,978 (GRCm39)	H77Y	possibly damaging	Het
Pld1	T	C	3: 28,130,651 (GRCm39)	Y484H	probably damaging	Het
Pou3f3	C	A	1: 42,736,560 (GRCm39)	N85K	unknown	Het
Ppm1m	C	A	9: 106,075,144 (GRCm39)	A134S	probably damaging	Het
Prdm11	A	T	2: 92,806,106 (GRCm39)	S281R	possibly damaging	Het
Prdm2	C	A	4: 142,862,434 (GRCm39)	L285F	probably damaging	Het
Ptchd3	C	T	11: 121,721,939 (GRCm39)	R271*	probably null	Het
Ptprq	A	C	10: 107,488,572 (GRCm39)	V955G	probably damaging	Het
Pygb	A	T	2: 150,657,589 (GRCm39)	M351L	probably benign	Het
Rcl1	G	A	19: 29,095,805 (GRCm39)		probably null	Het
Sgip1	A	T	4: 102,786,097 (GRCm39)	T351S	possibly damaging	Het
Slc22a5	T	C	11: 53,760,215 (GRCm39)	N367S	probably damaging	Het
Sox6	A	G	7: 115,143,830 (GRCm39)	V437A	probably benign	Het
Spata16	T	A	3: 26,721,572 (GRCm39)	M31K	possibly damaging	Het
Stab1	C	A	14: 30,879,372 (GRCm39)	V703F	possibly damaging	Het
Tbc1d4	C	T	14: 101,703,190 (GRCm39)	G752R	probably damaging	Het
Tent4b	G	A	8: 88,978,913 (GRCm39)	G505R	probably null	Het
Tes3-ps	C	T	13: 49,647,460 (GRCm39)	A112V	probably benign	Het
Tnfrsf19	T	C	14: 61,208,382 (GRCm39)	T380A	probably benign	Het
Trim75	C	T	8: 65,435,190 (GRCm39)	G420E	probably damaging	Het
Txlnb	A	G	10: 17,703,712 (GRCm39)	D290G	probably benign	Het
Unc5c	T	A	3: 141,534,238 (GRCm39)	F920I	possibly damaging	Het
Vmn1r233	T	A	17: 21,214,237 (GRCm39)	R238*	probably null	Het
Vmn2r113	A	G	17: 23,176,917 (GRCm39)	E567G	probably benign	Het
Vmn2r97	T	A	17: 19,150,662 (GRCm39)	I503K	probably damaging	Het
Wdr62	A	G	7: 29,964,584 (GRCm39)	W387R	probably damaging	Het
Zfp36l2	A	T	17: 84,495,090 (GRCm39)	D11E	probably benign	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
R4035: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
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'- TCATCAACAGCCCGGGAAAG -3'
(R):5'- GTTTTGCCACCAGTAGGGAC -3'

Sequencing Primer
(F):5'- GTTCCCGTCCCGAGTGC -3'
(R):5'- AGTAGGGACCAGAAGCTCCC -3'

Posted On

2020-09-15