Mutagenetix > Incidental Mutation

Incidental Mutation 'R0361:Api5'

30082

Institutional Source

Beutler Lab

Gene Symbol

Api5

Ensembl Gene

ENSMUSG00000027193

Gene Name

apoptosis inhibitor 5

Synonyms

AAC-11

MMRRC Submission

038567-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R0361 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94242073-94268490 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 94253842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 287 (L287*)

Ref Sequence

ENSEMBL: ENSMUSP00000028617 (fasta)

Gene Model

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

AlphaFold

O35841

Predicted Effect

probably null
Transcript: ENSMUST00000028617
AA Change: L287*

SMART Domains

Protein: ENSMUSP00000028617
Gene: ENSMUSG00000027193
AA Change: L287*

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

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

100% (1/1)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	G	3: 124,207,283 (GRCm39)	T303P	possibly damaging	Het
1700010I14Rik	G	T	17: 9,211,378 (GRCm39)	V176L	probably benign	Het
1700034J05Rik	T	C	6: 146,853,869 (GRCm39)	T262A	possibly damaging	Het
Adgrl3	A	T	5: 81,908,544 (GRCm39)	I1165F	probably damaging	Het
Ankhd1	T	C	18: 36,780,267 (GRCm39)	I1773T	probably damaging	Het
Apol10b	A	T	15: 77,469,586 (GRCm39)	M197K	possibly damaging	Het
Bcl2	G	A	1: 106,640,424 (GRCm39)	R63W	probably damaging	Het
Cacna1h	A	G	17: 25,608,396 (GRCm39)	M731T	probably damaging	Het
Cav1	C	A	6: 17,339,352 (GRCm39)	R146S	possibly damaging	Het
Cdhr2	A	T	13: 54,881,820 (GRCm39)	I1118F	probably damaging	Het
Cdk7	A	T	13: 100,848,062 (GRCm39)	Y153*	probably null	Het
Cemip	A	G	7: 83,613,218 (GRCm39)	I660T	probably benign	Het
Cfap65	A	T	1: 74,964,599 (GRCm39)	L518Q	probably damaging	Het
Cgas	T	A	9: 78,340,534 (GRCm39)	K399N	probably damaging	Het
Cngb3	A	G	4: 19,366,467 (GRCm39)	H176R	probably benign	Het
Cstdc4	T	C	16: 36,004,648 (GRCm39)	S7P	probably damaging	Het
Cux1	T	A	5: 136,308,351 (GRCm39)	I1263F	probably damaging	Het
Dnajc13	A	G	9: 104,044,258 (GRCm39)	M1867T	probably benign	Het
Dock2	A	G	11: 34,388,327 (GRCm39)	L202P	probably damaging	Het
Dyrk3	A	G	1: 131,057,769 (GRCm39)	S100P	probably benign	Het
Efr3b	A	T	12: 4,027,923 (GRCm39)	S376T	probably benign	Het
Eps8l2	A	C	7: 140,936,112 (GRCm39)	N222T	probably benign	Het
Ermp1	A	T	19: 29,608,806 (GRCm39)	Y158N	probably damaging	Het
Fam13a	A	G	6: 58,964,159 (GRCm39)	V91A	probably benign	Het
Fat3	A	G	9: 15,909,699 (GRCm39)	V2101A	possibly damaging	Het
Fsip2	T	C	2: 82,805,849 (GRCm39)	S723P	possibly damaging	Het
Garem1	G	T	18: 21,432,801 (GRCm39)	C9*	probably null	Het
Gdpd5	A	G	7: 99,107,997 (GRCm39)	I530V	possibly damaging	Het
Gm15217	T	A	14: 46,617,841 (GRCm39)		probably benign	Het
Gm4922	T	C	10: 18,659,289 (GRCm39)	T478A	probably benign	Het
H2-M5	A	G	17: 37,298,328 (GRCm39)	I329T	possibly damaging	Het
Ing4	G	A	6: 125,024,857 (GRCm39)	C200Y	probably damaging	Het
Kcnip1	A	T	11: 33,793,177 (GRCm39)	M5K	probably benign	Het
Kdsr	T	C	1: 106,675,517 (GRCm39)	E102G	probably damaging	Het
Krt15	C	T	11: 100,024,007 (GRCm39)	V346M	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrrc55	A	T	2: 85,026,589 (GRCm39)	M145K	probably damaging	Het
Lrrtm2	A	G	18: 35,345,985 (GRCm39)	I439T	probably benign	Het
Map2k6	T	C	11: 110,390,335 (GRCm39)	F290L	probably damaging	Het
Me1	T	A	9: 86,533,055 (GRCm39)	I136F	probably damaging	Het
Mfap2	A	G	4: 140,742,294 (GRCm39)	D98G	probably damaging	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mst1	T	C	9: 107,962,096 (GRCm39)	F696L	probably damaging	Het
Mta1	A	G	12: 113,096,961 (GRCm39)		probably null	Het
Myh15	A	T	16: 48,934,368 (GRCm39)	N645I	probably benign	Het
Myo7b	T	A	18: 32,147,262 (GRCm39)	I94F	probably damaging	Het
Nefh	A	T	11: 4,890,799 (GRCm39)	S607T	probably benign	Het
Noa1	G	A	5: 77,445,020 (GRCm39)	Q600*	probably null	Het
Nr2f2	A	G	7: 70,007,810 (GRCm39)	V71A	possibly damaging	Het
Oas2	A	T	5: 120,876,466 (GRCm39)	F492L	probably damaging	Het
Olfm3	T	A	3: 114,914,622 (GRCm39)	D211E	probably damaging	Het
Or2y17	A	T	11: 49,231,641 (GRCm39)	Y94F	probably benign	Het
Osmr	A	G	15: 6,871,432 (GRCm39)		probably null	Het
Plagl2	A	T	2: 153,073,523 (GRCm39)	D459E	probably benign	Het
Plch2	T	C	4: 155,091,168 (GRCm39)	D148G	possibly damaging	Het
Plxnc1	C	A	10: 94,700,869 (GRCm39)	C605F	probably damaging	Het
Ppm1m	T	C	9: 106,075,325 (GRCm39)	E108G	probably damaging	Het
Prr14l	A	C	5: 32,950,985 (GRCm39)	L1936R	probably damaging	Het
Ralgapa1	A	G	12: 55,723,354 (GRCm39)	I1771T	possibly damaging	Het
Rhobtb2	T	C	14: 70,033,357 (GRCm39)	T538A	probably benign	Het
Rictor	A	G	15: 6,813,588 (GRCm39)	N1025D	possibly damaging	Het
Sec23a	T	G	12: 59,037,804 (GRCm39)	D324A	probably damaging	Het
Srgap1	A	T	10: 121,883,097 (GRCm39)	M1K	probably null	Het
Syne2	T	A	12: 75,965,384 (GRCm39)	F801I	probably benign	Het
Synrg	T	A	11: 83,915,163 (GRCm39)		probably null	Het
Tas2r140	T	G	6: 40,468,232 (GRCm39)	F21V	probably benign	Het
Tmem260	A	T	14: 48,689,504 (GRCm39)	T108S	possibly damaging	Het
Trim2	T	C	3: 84,098,083 (GRCm39)	Y406C	probably damaging	Het
Ttn	T	C	2: 76,673,746 (GRCm39)		probably benign	Het
Vmn1r53	A	T	6: 90,201,064 (GRCm39)	S87T	possibly damaging	Het
Vmn2r115	T	A	17: 23,564,196 (GRCm39)	Y123N	probably benign	Het
Vmn2r28	T	A	7: 5,496,715 (GRCm39)	I46F	probably benign	Het
Zan	T	C	5: 137,395,028 (GRCm39)	T4381A	unknown	Het
Zfp457	A	G	13: 67,440,710 (GRCm39)	F622L	probably damaging	Het
Zfp994	A	T	17: 22,419,091 (GRCm39)	N619K	probably benign	Het
Zfy1	T	C	Y: 726,121 (GRCm39)	H548R	possibly damaging	Het
Zmym4	A	T	4: 126,804,938 (GRCm39)	S441T	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
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
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'- TCAGCAGCTTGGAAATCCAAAGAGAC -3'
(R):5'- AGCAGGATGAACATTTCAGATACTGGC -3'

Sequencing Primer
(F):5'- TGGAAATCCAAAGAGACTTCCTTAC -3'
(R):5'- TTGTACCTAAGCATGAGCCCATAG -3'

Posted On

2013-04-24