Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00970:Casp8ap2'

27324

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Casp8ap2

Ensembl Gene

ENSMUSG00000028282

Gene Name

caspase 8 associated protein 2

Synonyms

FLASH, D4Ertd659e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00970

Quality Score

Status

Chromosome

Chromosomal Location

32615462-32653271 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32646182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1752 (T1752A)

Ref Sequence

ENSEMBL: ENSMUSP00000136016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029950] [ENSMUST00000108178] [ENSMUST00000178925]

AlphaFold

Q9WUF3

Predicted Effect

probably benign
Transcript: ENSMUST00000029950
AA Change: T1752A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029950
Gene: ENSMUSG00000028282
AA Change: T1752A

Domain	Start	End	E-Value	Type
coiled coil region	68	142	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	458	477	N/A	INTRINSIC
low complexity region	1124	1135	N/A	INTRINSIC
low complexity region	1250	1268	N/A	INTRINSIC
low complexity region	1360	1377	N/A	INTRINSIC
low complexity region	1458	1470	N/A	INTRINSIC
low complexity region	1477	1498	N/A	INTRINSIC
low complexity region	1882	1895	N/A	INTRINSIC
PDB:2LR8\|A	1896	1962	1e-31	PDB
Blast:SANT	1905	1955	2e-21	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000108178

SMART Domains

Protein: ENSMUSP00000103813
Gene: ENSMUSG00000028282

Domain	Start	End	E-Value	Type
PDB:2LR8\|A	126	190	4e-26	PDB
Blast:SANT	139	183	4e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000178925
AA Change: T1752A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136016
Gene: ENSMUSG00000028282
AA Change: T1752A

Domain	Start	End	E-Value	Type
coiled coil region	68	142	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	458	477	N/A	INTRINSIC
low complexity region	1124	1135	N/A	INTRINSIC
low complexity region	1250	1268	N/A	INTRINSIC
low complexity region	1360	1377	N/A	INTRINSIC
low complexity region	1458	1470	N/A	INTRINSIC
low complexity region	1477	1498	N/A	INTRINSIC
low complexity region	1882	1895	N/A	INTRINSIC
PDB:2LR8\|A	1896	1962	1e-31	PDB
Blast:SANT	1905	1955	2e-21	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 protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for disruption of this gene die before implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 59,144,149 (GRCm39)	N910K	possibly damaging	Het
Atp8b5	A	G	4: 43,311,938 (GRCm39)	T184A	probably benign	Het
Cabp7	T	C	11: 4,688,931 (GRCm39)	I180V	probably benign	Het
Dgkb	T	C	12: 38,240,082 (GRCm39)	L453P	probably damaging	Het
Disp2	A	C	2: 118,622,274 (GRCm39)	D1002A	probably damaging	Het
Eif3c	G	A	7: 126,158,180 (GRCm39)	P259S	probably benign	Het
Eif4a3l1	A	G	6: 136,306,109 (GRCm39)	D169G	probably damaging	Het
Fam227b	A	T	2: 125,968,980 (GRCm39)	D31E	probably benign	Het
Farp2	T	C	1: 93,488,049 (GRCm39)	V92A	probably benign	Het
Fhod1	C	A	8: 106,058,734 (GRCm39)	V745L	possibly damaging	Het
Gprin3	T	C	6: 59,330,822 (GRCm39)	E495G	possibly damaging	Het
Grm5	T	C	7: 87,453,104 (GRCm39)	I247T	probably damaging	Het
Herc2	T	C	7: 55,830,812 (GRCm39)		probably benign	Het
Hoatz	T	A	9: 50,994,886 (GRCm39)	K148*	probably null	Het
Hspg2	C	A	4: 137,269,901 (GRCm39)	Q2311K	probably benign	Het
Krt26	T	C	11: 99,222,107 (GRCm39)	Y400C	probably benign	Het
Lct	A	T	1: 128,231,805 (GRCm39)	D681E	probably damaging	Het
Lgalsl	G	T	11: 20,776,493 (GRCm39)	P133Q	probably benign	Het
Man2b2	C	T	5: 36,973,487 (GRCm39)	W76*	probably null	Het
Mylk4	T	C	13: 32,899,905 (GRCm39)	E326G	probably damaging	Het
Odam	T	G	5: 88,034,467 (GRCm39)		probably benign	Het
Pabpc4	T	C	4: 123,180,608 (GRCm39)	I110T	probably damaging	Het
Pcdh15	A	T	10: 74,215,172 (GRCm39)	D47V	probably damaging	Het
Plekhg4	C	T	8: 106,105,067 (GRCm39)	R577C	probably benign	Het
Pnpo	C	A	11: 96,834,618 (GRCm39)	C26F	possibly damaging	Het
Polg	T	C	7: 79,101,493 (GRCm39)	I1071M	probably benign	Het
Prr23a2	A	G	9: 98,739,014 (GRCm39)	D124G	probably benign	Het
Rexo1	C	T	10: 80,386,798 (GRCm39)	V87I	probably damaging	Het
Robo2	C	A	16: 73,693,934 (GRCm39)	V1502L	probably benign	Het
Ruvbl2	A	G	7: 45,078,994 (GRCm39)	L50P	possibly damaging	Het
Ryr3	T	C	2: 112,595,021 (GRCm39)	K2534E	probably damaging	Het
Scfd2	T	C	5: 74,691,595 (GRCm39)	H229R	possibly damaging	Het
Sesn3	A	G	9: 14,232,438 (GRCm39)	D237G	probably damaging	Het
Shank1	T	C	7: 44,003,662 (GRCm39)	S1785P	possibly damaging	Het
Slc11a1	A	G	1: 74,419,821 (GRCm39)	T165A	probably damaging	Het
Star	G	A	8: 26,302,894 (GRCm39)		probably null	Het
Trpc6	A	T	9: 8,653,152 (GRCm39)	N575Y	probably damaging	Het
Unc5d	T	C	8: 29,186,456 (GRCm39)	T598A	probably benign	Het
Vmn1r200	A	T	13: 22,579,893 (GRCm39)	Q232L	probably damaging	Het
Wdr31	T	C	4: 62,375,757 (GRCm39)	T233A	probably damaging	Het
Zzef1	G	A	11: 72,806,071 (GRCm39)	R2669Q	probably benign	Het

Other mutations in Casp8ap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00686:Casp8ap2	APN	4	32,641,433 (GRCm39)	missense	probably damaging	1.00
IGL00714:Casp8ap2	APN	4	32,649,192 (GRCm39)	missense	probably damaging	1.00
IGL00754:Casp8ap2	APN	4	32,641,036 (GRCm39)	missense	probably benign	0.00
IGL00954:Casp8ap2	APN	4	32,645,403 (GRCm39)	missense	probably damaging	1.00
IGL01534:Casp8ap2	APN	4	32,648,134 (GRCm39)	splice site	probably benign
IGL01596:Casp8ap2	APN	4	32,646,365 (GRCm39)	missense	probably damaging	1.00
IGL01686:Casp8ap2	APN	4	32,641,294 (GRCm39)	missense	possibly damaging	0.94
IGL02002:Casp8ap2	APN	4	32,639,391 (GRCm39)	missense	probably damaging	1.00
IGL02273:Casp8ap2	APN	4	32,643,974 (GRCm39)	missense	probably damaging	1.00
IGL02510:Casp8ap2	APN	4	32,639,704 (GRCm39)	missense	probably benign	0.05
IGL02600:Casp8ap2	APN	4	32,630,246 (GRCm39)	missense	probably null	1.00
IGL02929:Casp8ap2	APN	4	32,624,105 (GRCm39)	utr 5 prime	probably benign
F5770:Casp8ap2	UTSW	4	32,639,944 (GRCm39)	missense	probably benign	0.00
IGL02988:Casp8ap2	UTSW	4	32,644,590 (GRCm39)	missense	probably benign	0.14
R0023:Casp8ap2	UTSW	4	32,640,185 (GRCm39)	missense	probably damaging	0.99
R0027:Casp8ap2	UTSW	4	32,643,810 (GRCm39)	missense	probably benign	0.01
R0090:Casp8ap2	UTSW	4	32,640,327 (GRCm39)	missense	probably damaging	1.00
R0117:Casp8ap2	UTSW	4	32,640,817 (GRCm39)	missense	probably benign	0.00
R0144:Casp8ap2	UTSW	4	32,643,797 (GRCm39)	missense	possibly damaging	0.50
R0268:Casp8ap2	UTSW	4	32,644,079 (GRCm39)	missense	probably damaging	0.99
R0344:Casp8ap2	UTSW	4	32,644,079 (GRCm39)	missense	probably damaging	0.99
R0555:Casp8ap2	UTSW	4	32,640,381 (GRCm39)	missense	probably damaging	1.00
R1051:Casp8ap2	UTSW	4	32,640,790 (GRCm39)	missense	probably benign	0.28
R1165:Casp8ap2	UTSW	4	32,640,563 (GRCm39)	missense	probably benign	0.01
R1243:Casp8ap2	UTSW	4	32,645,687 (GRCm39)	missense	probably benign	0.03
R1311:Casp8ap2	UTSW	4	32,648,111 (GRCm39)	missense	probably damaging	0.98
R1337:Casp8ap2	UTSW	4	32,645,721 (GRCm39)	missense	possibly damaging	0.64
R1471:Casp8ap2	UTSW	4	32,639,386 (GRCm39)	nonsense	probably null
R1497:Casp8ap2	UTSW	4	32,639,938 (GRCm39)	missense	probably benign	0.00
R1521:Casp8ap2	UTSW	4	32,631,867 (GRCm39)	missense	probably damaging	1.00
R1588:Casp8ap2	UTSW	4	32,640,541 (GRCm39)	missense	probably benign	0.00
R1625:Casp8ap2	UTSW	4	32,648,068 (GRCm39)	missense	probably benign	0.04
R1731:Casp8ap2	UTSW	4	32,641,442 (GRCm39)	missense	possibly damaging	0.94
R1899:Casp8ap2	UTSW	4	32,643,647 (GRCm39)	missense	probably damaging	0.98
R2000:Casp8ap2	UTSW	4	32,634,874 (GRCm39)	missense	probably damaging	1.00
R2021:Casp8ap2	UTSW	4	32,644,560 (GRCm39)	missense	probably benign	0.05
R2022:Casp8ap2	UTSW	4	32,644,560 (GRCm39)	missense	probably benign	0.05
R2023:Casp8ap2	UTSW	4	32,644,560 (GRCm39)	missense	probably benign	0.05
R2088:Casp8ap2	UTSW	4	32,631,126 (GRCm39)	missense	probably damaging	1.00
R2104:Casp8ap2	UTSW	4	32,644,727 (GRCm39)	missense	probably benign	0.00
R2128:Casp8ap2	UTSW	4	32,640,142 (GRCm39)	missense	probably benign	0.06
R2129:Casp8ap2	UTSW	4	32,640,142 (GRCm39)	missense	probably benign	0.06
R2305:Casp8ap2	UTSW	4	32,646,411 (GRCm39)	missense	probably damaging	1.00
R2316:Casp8ap2	UTSW	4	32,643,781 (GRCm39)	missense	probably benign	0.31
R2919:Casp8ap2	UTSW	4	32,645,343 (GRCm39)	missense	probably damaging	1.00
R4091:Casp8ap2	UTSW	4	32,643,611 (GRCm39)	missense	probably damaging	1.00
R4357:Casp8ap2	UTSW	4	32,646,150 (GRCm39)	missense	probably benign	0.00
R4807:Casp8ap2	UTSW	4	32,644,505 (GRCm39)	missense	possibly damaging	0.89
R4828:Casp8ap2	UTSW	4	32,639,807 (GRCm39)	missense	probably benign
R4908:Casp8ap2	UTSW	4	32,639,905 (GRCm39)	missense	possibly damaging	0.90
R4945:Casp8ap2	UTSW	4	32,631,163 (GRCm39)	missense	possibly damaging	0.57
R4962:Casp8ap2	UTSW	4	32,640,554 (GRCm39)	missense	probably damaging	0.99
R6014:Casp8ap2	UTSW	4	32,641,400 (GRCm39)	missense	probably damaging	0.97
R6092:Casp8ap2	UTSW	4	32,639,380 (GRCm39)	missense	probably damaging	1.00
R6257:Casp8ap2	UTSW	4	32,641,364 (GRCm39)	missense	possibly damaging	0.94
R6289:Casp8ap2	UTSW	4	32,639,590 (GRCm39)	missense	probably damaging	1.00
R6482:Casp8ap2	UTSW	4	32,634,813 (GRCm39)	missense	probably damaging	1.00
R6496:Casp8ap2	UTSW	4	32,641,553 (GRCm39)	missense	probably benign	0.05
R6515:Casp8ap2	UTSW	4	32,646,423 (GRCm39)	missense	possibly damaging	0.64
R7015:Casp8ap2	UTSW	4	32,644,278 (GRCm39)	missense	probably damaging	1.00
R7033:Casp8ap2	UTSW	4	32,639,392 (GRCm39)	missense	probably damaging	1.00
R7072:Casp8ap2	UTSW	4	32,644,766 (GRCm39)	missense	probably damaging	1.00
R7448:Casp8ap2	UTSW	4	32,643,974 (GRCm39)	missense	possibly damaging	0.84
R7944:Casp8ap2	UTSW	4	32,645,909 (GRCm39)	missense	probably benign	0.12
R7945:Casp8ap2	UTSW	4	32,645,909 (GRCm39)	missense	probably benign	0.12
R8170:Casp8ap2	UTSW	4	32,615,490 (GRCm39)	splice site	probably benign
R8179:Casp8ap2	UTSW	4	32,643,939 (GRCm39)	nonsense	probably null
R8207:Casp8ap2	UTSW	4	32,646,446 (GRCm39)	missense	possibly damaging	0.63
R8263:Casp8ap2	UTSW	4	32,644,072 (GRCm39)	missense	probably damaging	1.00
R8298:Casp8ap2	UTSW	4	32,640,429 (GRCm39)	missense	probably benign	0.30
R9441:Casp8ap2	UTSW	4	32,645,873 (GRCm39)	missense	probably benign	0.00
R9455:Casp8ap2	UTSW	4	32,643,924 (GRCm39)	missense	possibly damaging	0.85
R9729:Casp8ap2	UTSW	4	32,643,807 (GRCm39)	missense	possibly damaging	0.71
V7580:Casp8ap2	UTSW	4	32,639,944 (GRCm39)	missense	probably benign	0.00
X0018:Casp8ap2	UTSW	4	32,643,738 (GRCm39)	missense	probably benign	0.03

Posted On

2013-04-17