Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00590:Apaf1'

4677

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Apaf1

Ensembl Gene

ENSMUSG00000019979

Gene Name

apoptotic peptidase activating factor 1

Synonyms

6230400I06Rik, Apaf1l

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00590

Quality Score

Status

Chromosome

Chromosomal Location

90825173-90918632 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90859650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 832 (I832F)

Ref Sequence

ENSEMBL: ENSMUSP00000124134 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020157] [ENSMUST00000159110] [ENSMUST00000162618]

AlphaFold

O88879

Predicted Effect

probably damaging
Transcript: ENSMUST00000020157
AA Change: I843F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020157
Gene: ENSMUSG00000019979
AA Change: I843F

Domain	Start	End	E-Value	Type
Pfam:CARD	6	90	7.3e-22	PFAM
Pfam:NB-ARC	129	414	1.7e-77	PFAM
WD40	604	643	1.35e-5	SMART
WD40	646	685	1.04e-11	SMART
WD40	688	729	2.98e-7	SMART
WD40	732	771	9.88e-13	SMART
WD40	780	825	1.28e1	SMART
WD40	828	868	1.43e0	SMART
WD40	871	910	3.24e-8	SMART
WD40	952	989	2.57e0	SMART
WD40	992	1031	1.09e-5	SMART
WD40	1033	1071	2.09e-2	SMART
WD40	1074	1113	2.93e-6	SMART
WD40	1116	1155	8.55e-8	SMART
WD40	1168	1204	4.55e-3	SMART
Blast:WD40	1207	1246	5e-18	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000159110
AA Change: I843F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125291
Gene: ENSMUSG00000019979
AA Change: I843F

Domain	Start	End	E-Value	Type
Pfam:CARD	6	90	7.4e-21	PFAM
Pfam:NB-ARC	129	414	6.9e-71	PFAM
WD40	604	643	1.35e-5	SMART
WD40	646	685	1.04e-11	SMART
WD40	688	729	2.98e-7	SMART
WD40	732	771	9.88e-13	SMART
WD40	780	825	1.28e1	SMART
WD40	828	868	1.43e0	SMART
WD40	871	910	3.24e-8	SMART
WD40	952	989	2.57e0	SMART
WD40	992	1031	1.09e-5	SMART
WD40	1033	1071	2.09e-2	SMART
WD40	1074	1113	2.93e-6	SMART
WD40	1116	1155	8.55e-8	SMART
WD40	1168	1204	4.55e-3	SMART
Blast:WD40	1207	1246	5e-18	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000162618
AA Change: I832F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124134
Gene: ENSMUSG00000019979
AA Change: I832F

Domain	Start	End	E-Value	Type
Pfam:CARD	6	90	1.1e-20	PFAM
Pfam:NB-ARC	118	403	8.8e-72	PFAM
WD40	593	632	1.35e-5	SMART
WD40	635	674	1.04e-11	SMART
WD40	677	718	2.98e-7	SMART
WD40	721	760	9.88e-13	SMART
WD40	769	814	1.28e1	SMART
WD40	817	857	1.43e0	SMART
WD40	860	899	3.24e-8	SMART
WD40	941	978	2.57e0	SMART
WD40	981	1020	1.09e-5	SMART
WD40	1022	1060	2.09e-2	SMART
WD40	1063	1102	2.93e-6	SMART
WD40	1105	1144	8.55e-8	SMART
WD40	1157	1193	4.55e-3	SMART
Blast:WD40	1196	1235	5e-18	BLAST

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 a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations have defects in apoptosis resulting in brain overgrowth, craniofacial defects, interdigit webbing and altered lens and retina. Most mutants die by embryonic day 16.5 or perinatally, and male survivors are sterile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,023,038 (GRCm39)	F58C	probably damaging	Het
Adgrf5	G	T	17: 43,764,038 (GRCm39)	G1320V	probably damaging	Het
Akap13	A	G	7: 75,260,417 (GRCm39)	K211E	probably benign	Het
Akap8l	T	C	17: 32,552,071 (GRCm39)	D402G	possibly damaging	Het
Akna	T	C	4: 63,290,115 (GRCm39)	I1198V	probably benign	Het
Cbl	A	C	9: 44,112,495 (GRCm39)	L67V	probably damaging	Het
Chl1	T	C	6: 103,670,022 (GRCm39)	Y471H	probably benign	Het
Cystm1	T	A	18: 36,499,728 (GRCm39)	Y48N	unknown	Het
Dennd5b	T	C	6: 148,969,806 (GRCm39)	T216A	probably benign	Het
Dpep2	A	T	8: 106,715,453 (GRCm39)	M356K	probably damaging	Het
Dtymk	A	G	1: 93,722,446 (GRCm39)		probably null	Het
Fam91a1	A	G	15: 58,287,565 (GRCm39)	D4G	possibly damaging	Het
Fbxl20	A	G	11: 97,983,955 (GRCm39)	L306P	probably damaging	Het
Fchsd1	C	T	18: 38,098,946 (GRCm39)		probably benign	Het
Fndc1	G	A	17: 7,983,933 (GRCm39)	T1331I	unknown	Het
Gpatch8	T	C	11: 102,371,375 (GRCm39)	D721G	unknown	Het
Gsg1	A	T	6: 135,221,348 (GRCm39)	I17N	possibly damaging	Het
Heyl	A	G	4: 123,140,423 (GRCm39)	*327W	probably null	Het
Kif13b	G	T	14: 65,016,911 (GRCm39)	R1359L	probably damaging	Het
Map3k14	C	T	11: 103,128,380 (GRCm39)	G414S	probably damaging	Het
Meis2	C	T	2: 115,699,274 (GRCm39)	A330T	probably damaging	Het
Mrpl9	T	C	3: 94,351,003 (GRCm39)	L61P	probably damaging	Het
Mrps6	A	G	16: 91,896,548 (GRCm39)	N38D	probably benign	Het
Muc4	C	T	16: 32,575,465 (GRCm39)	T1407I	probably benign	Het
Nup107	A	G	10: 117,599,708 (GRCm39)	Y604H	probably damaging	Het
Pgm2l1	T	C	7: 99,904,826 (GRCm39)		probably null	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Rb1cc1	T	C	1: 6,308,520 (GRCm39)	F52S	probably damaging	Het
Rnft1	T	A	11: 86,386,740 (GRCm39)	W383R	probably damaging	Het
Tas2r104	A	T	6: 131,662,530 (GRCm39)	W60R	probably damaging	Het
Tlr11	A	G	14: 50,598,373 (GRCm39)	T120A	probably benign	Het
Tmem150b	T	G	7: 4,726,896 (GRCm39)	I71L	probably benign	Het
Zfp296	A	G	7: 19,311,760 (GRCm39)	D89G	possibly damaging	Het

Other mutations in Apaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Apaf1	APN	10	90,833,202 (GRCm39)	splice site	probably null
IGL01481:Apaf1	APN	10	90,867,450 (GRCm39)	missense	possibly damaging	0.84
IGL01713:Apaf1	APN	10	90,897,694 (GRCm39)	splice site	probably benign
IGL01715:Apaf1	APN	10	90,894,216 (GRCm39)	missense	probably benign	0.20
IGL02152:Apaf1	APN	10	90,897,681 (GRCm39)	missense	probably benign	0.24
IGL02331:Apaf1	APN	10	90,895,481 (GRCm39)	missense	probably damaging	1.00
IGL03071:Apaf1	APN	10	90,833,117 (GRCm39)	missense	possibly damaging	0.88
IGL03101:Apaf1	APN	10	90,867,421 (GRCm39)	missense	possibly damaging	0.89
IGL03244:Apaf1	APN	10	90,885,211 (GRCm39)	splice site	probably benign
Bedlam	UTSW	10	90,896,133 (GRCm39)	missense	probably damaging	0.99
Mayhem	UTSW	10	90,835,581 (GRCm39)	missense	probably damaging	0.99
Wipeout	UTSW	10	90,891,862 (GRCm39)	missense	probably damaging	1.00
R0520:Apaf1	UTSW	10	90,915,851 (GRCm39)	missense	probably damaging	0.99
R0600:Apaf1	UTSW	10	90,895,914 (GRCm39)	missense	probably damaging	1.00
R0607:Apaf1	UTSW	10	90,845,065 (GRCm39)	missense	probably damaging	1.00
R0688:Apaf1	UTSW	10	90,897,567 (GRCm39)	missense	possibly damaging	0.94
R0734:Apaf1	UTSW	10	90,872,883 (GRCm39)	missense	probably benign	0.02
R1256:Apaf1	UTSW	10	90,894,268 (GRCm39)	missense	probably benign
R1459:Apaf1	UTSW	10	90,898,022 (GRCm39)	missense	probably benign	0.00
R1485:Apaf1	UTSW	10	90,896,105 (GRCm39)	missense	probably benign	0.02
R1511:Apaf1	UTSW	10	90,896,047 (GRCm39)	missense	possibly damaging	0.81
R1531:Apaf1	UTSW	10	90,890,383 (GRCm39)	missense	probably damaging	1.00
R1705:Apaf1	UTSW	10	90,903,133 (GRCm39)	splice site	probably benign
R1919:Apaf1	UTSW	10	90,913,476 (GRCm39)	nonsense	probably null
R1925:Apaf1	UTSW	10	90,835,581 (GRCm39)	missense	probably damaging	0.99
R2001:Apaf1	UTSW	10	90,897,676 (GRCm39)	missense	possibly damaging	0.94
R2002:Apaf1	UTSW	10	90,897,676 (GRCm39)	missense	possibly damaging	0.94
R2006:Apaf1	UTSW	10	90,897,634 (GRCm39)	missense	probably damaging	1.00
R2043:Apaf1	UTSW	10	90,872,890 (GRCm39)	missense	probably damaging	1.00
R2073:Apaf1	UTSW	10	90,867,556 (GRCm39)	nonsense	probably null
R2101:Apaf1	UTSW	10	90,895,942 (GRCm39)	missense	probably benign	0.26
R2130:Apaf1	UTSW	10	90,896,027 (GRCm39)	nonsense	probably null
R2153:Apaf1	UTSW	10	90,883,952 (GRCm39)	missense	probably damaging	1.00
R2377:Apaf1	UTSW	10	90,915,755 (GRCm39)	missense	possibly damaging	0.95
R2421:Apaf1	UTSW	10	90,856,585 (GRCm39)	missense	probably damaging	1.00
R3835:Apaf1	UTSW	10	90,895,449 (GRCm39)	missense	probably benign	0.07
R4750:Apaf1	UTSW	10	90,896,050 (GRCm39)	missense	probably damaging	1.00
R5100:Apaf1	UTSW	10	90,833,149 (GRCm39)	missense	probably benign
R5135:Apaf1	UTSW	10	90,895,956 (GRCm39)	missense	probably damaging	1.00
R5497:Apaf1	UTSW	10	90,835,518 (GRCm39)	missense	probably damaging	1.00
R5511:Apaf1	UTSW	10	90,890,254 (GRCm39)	missense	probably damaging	1.00
R5659:Apaf1	UTSW	10	90,898,015 (GRCm39)	nonsense	probably null
R5730:Apaf1	UTSW	10	90,856,633 (GRCm39)	missense	possibly damaging	0.62
R6176:Apaf1	UTSW	10	90,895,433 (GRCm39)	critical splice donor site	probably null
R6242:Apaf1	UTSW	10	90,898,025 (GRCm39)	missense	probably damaging	1.00
R6292:Apaf1	UTSW	10	90,827,425 (GRCm39)	missense	possibly damaging	0.86
R6376:Apaf1	UTSW	10	90,859,673 (GRCm39)	missense	probably damaging	1.00
R6534:Apaf1	UTSW	10	90,891,862 (GRCm39)	missense	probably damaging	1.00
R6975:Apaf1	UTSW	10	90,856,596 (GRCm39)	missense	probably damaging	0.97
R7218:Apaf1	UTSW	10	90,872,864 (GRCm39)	missense	probably damaging	1.00
R7369:Apaf1	UTSW	10	90,836,898 (GRCm39)	missense	probably damaging	0.97
R7409:Apaf1	UTSW	10	90,903,108 (GRCm39)	missense	probably damaging	1.00
R7413:Apaf1	UTSW	10	90,831,542 (GRCm39)	missense	probably benign	0.28
R7418:Apaf1	UTSW	10	90,859,697 (GRCm39)	missense	probably benign	0.09
R7423:Apaf1	UTSW	10	90,895,468 (GRCm39)	missense	probably damaging	1.00
R7488:Apaf1	UTSW	10	90,890,242 (GRCm39)	missense	probably benign	0.35
R7765:Apaf1	UTSW	10	90,859,644 (GRCm39)	missense	probably benign	0.34
R7913:Apaf1	UTSW	10	90,896,133 (GRCm39)	missense	probably damaging	0.99
R7914:Apaf1	UTSW	10	90,896,095 (GRCm39)	missense	probably damaging	1.00
R7922:Apaf1	UTSW	10	90,835,615 (GRCm39)	missense	probably benign
R8131:Apaf1	UTSW	10	90,913,420 (GRCm39)	missense	possibly damaging	0.93
R8158:Apaf1	UTSW	10	90,895,520 (GRCm39)	missense	probably benign	0.05
R8673:Apaf1	UTSW	10	90,831,530 (GRCm39)	missense	probably damaging	1.00
R8682:Apaf1	UTSW	10	90,831,532 (GRCm39)	missense	probably damaging	1.00
R8962:Apaf1	UTSW	10	90,903,066 (GRCm39)	missense	probably damaging	1.00
R9069:Apaf1	UTSW	10	90,859,580 (GRCm39)	critical splice donor site	probably null
R9200:Apaf1	UTSW	10	90,845,102 (GRCm39)	missense	probably benign	0.24
R9516:Apaf1	UTSW	10	90,915,816 (GRCm39)	missense	probably damaging	1.00
R9623:Apaf1	UTSW	10	90,913,463 (GRCm39)	nonsense	probably null

Posted On

2012-04-20