Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03101:Apaf1'

418734

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 #

IGL03101

Quality Score

Status

Chromosome

Chromosomal Location

90825173-90918632 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90867421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 808 (N808S)

Ref Sequence

ENSEMBL: ENSMUSP00000124134 (fasta)

Gene Model

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

AlphaFold

O88879

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020157
AA Change: N819S

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020157
Gene: ENSMUSG00000019979
AA Change: N819S

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

possibly damaging
Transcript: ENSMUST00000159110
AA Change: N819S

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125291
Gene: ENSMUSG00000019979
AA Change: N819S

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

possibly damaging
Transcript: ENSMUST00000162618
AA Change: N808S

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124134
Gene: ENSMUSG00000019979
AA Change: N808S

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA474408	A	T	7: 109,660,177 (GRCm39)		probably benign	Het
Abcc1	T	A	16: 14,207,732 (GRCm39)	V23D	probably damaging	Het
Adam8	G	T	7: 139,568,456 (GRCm39)	N260K	possibly damaging	Het
Ap3b1	A	T	13: 94,591,906 (GRCm39)	I457L	probably benign	Het
Arhgef26	A	G	3: 62,327,082 (GRCm39)	T532A	possibly damaging	Het
Cfap65	G	T	1: 74,967,592 (GRCm39)	T162N	possibly damaging	Het
Clec12b	A	G	6: 129,356,480 (GRCm39)		probably null	Het
Creb3	T	C	4: 43,563,081 (GRCm39)	V60A	probably benign	Het
Cyp11b1	A	G	15: 74,707,703 (GRCm39)	F469L	probably benign	Het
Defb28	A	T	2: 152,362,047 (GRCm39)	E69V	possibly damaging	Het
Etnppl	T	C	3: 130,415,967 (GRCm39)	L118S	probably damaging	Het
Fsip1	T	C	2: 118,072,144 (GRCm39)	Y213C	probably damaging	Het
Glb1l2	A	G	9: 26,676,421 (GRCm39)	W480R	probably damaging	Het
Herc1	A	T	9: 66,395,279 (GRCm39)	M4205L	probably benign	Het
Kif5a	A	T	10: 127,071,478 (GRCm39)		probably benign	Het
Lmbrd2	C	T	15: 9,186,695 (GRCm39)	R557C	probably damaging	Het
Map4k3	A	G	17: 80,963,284 (GRCm39)		probably null	Het
Npc1	A	G	18: 12,331,596 (GRCm39)	I858T	probably benign	Het
Or7e173	T	C	9: 19,938,725 (GRCm39)	T170A	probably benign	Het
Pecam1	A	G	11: 106,588,177 (GRCm39)	V92A	probably damaging	Het
Rbm43	A	T	2: 51,816,757 (GRCm39)	I70N	probably benign	Het
Rps6kb1	T	C	11: 86,393,708 (GRCm39)	Y474C	probably benign	Het
Slco2a1	G	A	9: 102,954,205 (GRCm39)	G459R	possibly damaging	Het
Snca	T	A	6: 60,804,595 (GRCm39)		probably benign	Het
Spata31f1e	T	C	4: 42,793,424 (GRCm39)	D236G	possibly damaging	Het
Stap2	T	A	17: 56,309,029 (GRCm39)	I113F	probably damaging	Het
Tas2r140	T	C	6: 40,468,764 (GRCm39)	M198T	probably benign	Het
Trim9	T	C	12: 70,393,428 (GRCm39)	E172G	probably damaging	Het
Ttll7	T	C	3: 146,602,445 (GRCm39)	V81A	possibly damaging	Het
Vmn2r103	A	G	17: 19,993,782 (GRCm39)	Y53C	probably damaging	Het
Vmn2r22	C	A	6: 123,614,295 (GRCm39)	A432S	probably benign	Het
Zfp943	T	C	17: 22,211,156 (GRCm39)	S81P	probably damaging	Het

Other mutations in Apaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Apaf1	APN	10	90,859,650 (GRCm39)	missense	probably damaging	0.99
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
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

2016-08-02