Mutagenetix > Incidental Mutation

Incidental Mutation 'R3738:Api5'

270215

Institutional Source

Beutler Lab

Gene Symbol

Api5

Ensembl Gene

ENSMUSG00000027193

Gene Name

apoptosis inhibitor 5

Synonyms

AAC-11

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R3738 (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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

98% (47/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	A	T	11: 48,910,108 (GRCm39)	L775*	probably null	Het
Abcb8	A	G	5: 24,605,619 (GRCm39)	S168G	probably benign	Het
Ankrd11	A	G	8: 123,623,454 (GRCm39)		probably benign	Het
Atp8b1	A	G	18: 64,666,800 (GRCm39)		probably benign	Het
Camk2d	A	G	3: 126,565,488 (GRCm39)	D136G	probably damaging	Het
Capn3	G	A	2: 120,315,768 (GRCm39)	D227N	possibly damaging	Het
Ccdc168	A	G	1: 44,098,026 (GRCm39)	V1024A	probably benign	Het
Cwf19l2	A	T	9: 3,456,803 (GRCm39)	H712L	probably benign	Het
Dlgap3	A	G	4: 127,089,399 (GRCm39)	T332A	probably damaging	Het
Eml6	C	A	11: 29,753,137 (GRCm39)	V925L	probably benign	Het
Fbll1	G	A	11: 35,688,505 (GRCm39)	H253Y	possibly damaging	Het
Fbxw18	T	A	9: 109,517,981 (GRCm39)	Y335F	possibly damaging	Het
Gbp10	T	A	5: 105,372,324 (GRCm39)	E145D	possibly damaging	Het
Ifi203	T	A	1: 173,757,040 (GRCm39)		probably benign	Het
Insig1	T	A	5: 28,276,701 (GRCm39)	I89N	probably damaging	Het
Itpkc	T	A	7: 26,927,029 (GRCm39)	D295V	possibly damaging	Het
Jak1	T	C	4: 101,048,665 (GRCm39)		probably benign	Het
Kctd9	G	A	14: 67,971,737 (GRCm39)	D157N	possibly damaging	Het
Kmt2c	A	C	5: 25,610,381 (GRCm39)	F242V	probably benign	Het
Lcorl	A	T	5: 45,891,383 (GRCm39)	N323K	possibly damaging	Het
Lin54	T	C	5: 100,607,665 (GRCm39)		probably benign	Het
Ltbp2	A	T	12: 84,851,248 (GRCm39)	C836S	probably damaging	Het
Mfsd2b	A	G	12: 4,920,578 (GRCm39)	S80P	probably damaging	Het
Myh9	G	A	15: 77,651,012 (GRCm39)	R1612C	probably damaging	Het
Nr1d2	T	A	14: 18,211,804 (GRCm38)	N433I	possibly damaging	Het
Or2y1	A	G	11: 49,386,287 (GRCm39)	D309G	possibly damaging	Het
Or4c112	T	C	2: 88,853,954 (GRCm39)	Y131C	probably damaging	Het
Or4l15	T	C	14: 50,198,013 (GRCm39)	N172S	possibly damaging	Het
Pld4	T	C	12: 112,734,469 (GRCm39)	I410T	probably benign	Het
Pnma8b	C	T	7: 16,680,521 (GRCm39)	H502Y	probably benign	Het
Pramel12	T	C	4: 143,143,212 (GRCm39)		probably benign	Het
Rbbp8nl	G	T	2: 179,923,041 (GRCm39)	T184K	probably benign	Het
Saa4	T	A	7: 46,379,053 (GRCm39)	N96Y	possibly damaging	Het
Serpinb6d	T	A	13: 33,851,663 (GRCm39)	V140E	probably damaging	Het
Ska3	A	T	14: 58,049,053 (GRCm39)	M306K	probably benign	Het
Slfn4	T	C	11: 83,076,137 (GRCm39)	M1T	probably null	Het
Sorcs1	T	C	19: 50,139,659 (GRCm39)	I1168V	probably benign	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
St18	G	A	1: 6,925,697 (GRCm39)		probably null	Het
Trim9	T	C	12: 70,297,969 (GRCm39)	T579A	probably damaging	Het
Trpc2	G	A	7: 101,733,711 (GRCm39)	S220N	probably damaging	Het
Ube2j1	A	T	4: 33,036,723 (GRCm39)	M16L	probably benign	Het
Usp42	C	T	5: 143,701,194 (GRCm39)	S943N	probably benign	Het
Utp20	C	T	10: 88,598,668 (GRCm39)	V103I	probably benign	Het
Vmn2r62	G	A	7: 42,437,311 (GRCm39)	P391L	probably benign	Het
Zfa-ps	T	A	10: 52,420,636 (GRCm39)		noncoding transcript	Het
Zfp423	A	G	8: 88,507,972 (GRCm39)	C666R	probably 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
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
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

2015-03-18