Mutagenetix > Incidental Mutation

Incidental Mutation 'R2130:Apaf1'

227965

Institutional Source

Beutler Lab

Gene Symbol

Apaf1

Ensembl Gene

ENSMUSG00000019979

Gene Name

apoptotic peptidase activating factor 1

Synonyms

6230400I06Rik, Apaf1l

MMRRC Submission

040133-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90825173-90918632 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 90896027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 348 (Y348*)

Ref Sequence

ENSEMBL: ENSMUSP00000124134 (fasta)

Gene Model

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

AlphaFold

O88879

Predicted Effect

probably null
Transcript: ENSMUST00000020157
AA Change: Y359*

SMART Domains

Protein: ENSMUSP00000020157
Gene: ENSMUSG00000019979
AA Change: Y359*

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 null
Transcript: ENSMUST00000159110
AA Change: Y359*

SMART Domains

Protein: ENSMUSP00000125291
Gene: ENSMUSG00000019979
AA Change: Y359*

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 null
Transcript: ENSMUST00000162618
AA Change: Y348*

SMART Domains

Protein: ENSMUSP00000124134
Gene: ENSMUSG00000019979
AA Change: Y348*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

94% (94/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,553,223 (GRCm39)	N178I	probably damaging	Het
Aadacl2fm3	T	C	3: 59,772,769 (GRCm39)	V91A	probably damaging	Het
Adgrl2	T	C	3: 148,596,124 (GRCm39)	I71V	probably damaging	Het
Adgrv1	T	C	13: 81,729,846 (GRCm39)	T212A	possibly damaging	Het
Aopep	T	A	13: 63,357,963 (GRCm39)	C656S	probably benign	Het
Aox3	A	G	1: 58,209,002 (GRCm39)	H845R	probably damaging	Het
Apobr	A	G	7: 126,186,378 (GRCm39)	T630A	probably benign	Het
Arhgap23	A	G	11: 97,342,387 (GRCm39)	D223G	possibly damaging	Het
Asic1	A	T	15: 99,569,756 (GRCm39)	T26S	possibly damaging	Het
Atp13a2	T	A	4: 140,732,327 (GRCm39)	M864K	probably damaging	Het
Atrnl1	G	A	19: 57,643,426 (GRCm39)	G438D	probably damaging	Het
Bbc3	T	C	7: 16,046,268 (GRCm39)	V68A	possibly damaging	Het
Birc6	T	C	17: 74,966,149 (GRCm39)		probably benign	Het
Btnl9	A	G	11: 49,071,523 (GRCm39)	F100S	probably damaging	Het
Castor2	G	A	5: 134,164,992 (GRCm39)	C187Y	probably damaging	Het
Ccpg1	A	G	9: 72,920,440 (GRCm39)	N685S	probably damaging	Het
Ces3b	T	A	8: 105,819,607 (GRCm39)		probably null	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Clhc1	A	G	11: 29,507,663 (GRCm39)	I126V	probably benign	Het
Crocc	T	C	4: 140,756,413 (GRCm39)	I1071V	probably benign	Het
Dbt	T	A	3: 116,332,773 (GRCm39)	D16E	probably damaging	Het
Dnajc8	T	C	4: 132,271,370 (GRCm39)	S62P	possibly damaging	Het
Dpyd	T	C	3: 118,468,217 (GRCm39)	V77A	probably benign	Het
Dram2	T	A	3: 106,478,076 (GRCm39)	M136K	possibly damaging	Het
Dtx2	T	A	5: 136,040,894 (GRCm39)	F100I	probably damaging	Het
Dync2h1	A	T	9: 7,011,253 (GRCm39)	W3654R	probably damaging	Het
Fbxw10	T	A	11: 62,750,683 (GRCm39)	I422N	probably damaging	Het
Fgf17	T	C	14: 70,875,927 (GRCm39)	R102G	probably damaging	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,255,059 (GRCm39)		probably benign	Het
Gm6578	C	A	6: 12,100,186 (GRCm39)		noncoding transcript	Het
Gm8374	T	C	14: 18,537,078 (GRCm39)	T49A	probably damaging	Het
Gm9797	G	T	10: 11,485,113 (GRCm39)		noncoding transcript	Het
Golga3	T	C	5: 110,350,805 (GRCm39)		probably null	Het
Golim4	A	T	3: 75,815,456 (GRCm39)	V116D	probably damaging	Het
Igfn1	AGGG	AGG	1: 135,902,590 (GRCm39)		probably benign	Het
Insrr	G	A	3: 87,717,879 (GRCm39)		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Isoc2b	A	T	7: 4,854,438 (GRCm39)	I31N	probably damaging	Het
Kif5c	T	A	2: 49,648,817 (GRCm39)		probably benign	Het
Krtap16-1	A	T	11: 99,876,602 (GRCm39)	C267*	probably null	Het
Lamc2	T	A	1: 153,002,870 (GRCm39)	D1037V	probably damaging	Het
Lhfpl2	A	G	13: 94,328,557 (GRCm39)	D206G	possibly damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Mgat2	T	C	12: 69,232,068 (GRCm39)	F214S	probably damaging	Het
Mki67	T	A	7: 135,305,970 (GRCm39)		probably null	Het
Mpo	A	G	11: 87,688,187 (GRCm39)	D282G	possibly damaging	Het
Myh10	A	G	11: 68,698,115 (GRCm39)		probably benign	Het
Myo15b	G	A	11: 115,762,469 (GRCm39)	V1229I	probably benign	Het
Nfatc2ip	A	G	7: 125,989,634 (GRCm39)	V250A	probably benign	Het
Niban2	A	G	2: 32,813,659 (GRCm39)	K624R	probably benign	Het
Nrp1	A	T	8: 129,224,997 (GRCm39)	E782D	probably damaging	Het
Olfml3	T	A	3: 103,643,185 (GRCm39)	M399L	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or1j13	A	G	2: 36,370,059 (GRCm39)	S28P	possibly damaging	Het
Or2f1	C	A	6: 42,721,069 (GRCm39)	L33M	possibly damaging	Het
Or56a5	T	A	7: 104,792,757 (GRCm39)	I254F	probably benign	Het
Plekha6	C	A	1: 133,207,103 (GRCm39)		probably null	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Psph	T	A	5: 129,864,603 (GRCm39)		probably null	Het
Ptpro	A	G	6: 137,388,114 (GRCm39)		probably null	Het
Pzp	T	C	6: 128,468,124 (GRCm39)		probably null	Het
Qrich2	C	T	11: 116,339,243 (GRCm39)		probably benign	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rfwd3	A	T	8: 112,024,034 (GRCm39)	V96E	probably benign	Het
Rnf17	T	C	14: 56,730,811 (GRCm39)	V1205A	probably damaging	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Senp1	T	A	15: 97,973,848 (GRCm39)	T132S	probably benign	Het
Sgo2b	T	C	8: 64,380,181 (GRCm39)	R884G	probably benign	Het
Slc10a5	G	T	3: 10,400,278 (GRCm39)	D127E	probably benign	Het
Slc25a35	T	G	11: 68,859,791 (GRCm39)	S101R	possibly damaging	Het
Slc6a13	T	C	6: 121,302,000 (GRCm39)	L194P	possibly damaging	Het
Snw1	T	G	12: 87,499,473 (GRCm39)		probably benign	Het
Sort1	T	A	3: 108,259,002 (GRCm39)	F678Y	probably benign	Het
Srsf12	C	T	4: 33,225,764 (GRCm39)		probably benign	Het
Ssxa1	T	A	X: 20,985,581 (GRCm39)		probably benign	Het
Stard13	T	C	5: 150,968,633 (GRCm39)	Y879C	probably damaging	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,674,479 (GRCm39)		probably benign	Het
Tacr3	T	C	3: 134,637,941 (GRCm39)	V366A	probably benign	Het
Tasor	T	A	14: 27,168,345 (GRCm39)	Y296N	probably damaging	Het
Tasor	A	G	14: 27,198,571 (GRCm39)	N1301S	possibly damaging	Het
Tecpr1	T	A	5: 144,145,463 (GRCm39)	T595S	probably benign	Het
Tjp3	T	A	10: 81,113,888 (GRCm39)	M457L	possibly damaging	Het
Tkfc	A	G	19: 10,573,405 (GRCm39)	I279T	probably damaging	Het
Tmem98	A	G	11: 80,708,348 (GRCm39)	E106G	probably damaging	Het
Tnnt2	TG	TGG	1: 135,774,499 (GRCm39)		probably benign	Het
Trim41	C	A	11: 48,698,419 (GRCm39)	G516W	probably damaging	Het
Ttn	T	C	2: 76,572,861 (GRCm39)	T24265A	possibly damaging	Het
Usp37	A	G	1: 74,500,815 (GRCm39)	V582A	probably damaging	Het
Vps13b	T	A	15: 35,671,546 (GRCm39)	I1683N	probably benign	Het
Vps13d	C	T	4: 144,882,671 (GRCm39)	R968H	probably benign	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Vwf	C	T	6: 125,634,020 (GRCm39)	T166I	probably damaging	Het
Zfp280d	T	C	9: 72,215,287 (GRCm39)	F133L	probably damaging	Het
Zfp459	A	T	13: 67,556,395 (GRCm39)	H229Q	probably benign	Het
Zfyve26	T	A	12: 79,315,208 (GRCm39)	I1423F	possibly damaging	Het
Zmynd19	T	A	2: 24,842,648 (GRCm39)	Y15*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGCACATGCCATAAGGACC -3'
(R):5'- ACACACTTGGAGCACGTAGG -3'

Sequencing Primer
(F):5'- CATGCCATAAGGACCCAGTG -3'
(R):5'- CACTTGGAGCACGTAGGGAGAG -3'

Posted On

2014-09-17