Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02273:Casp8ap2'

287248

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 #

IGL02273

Quality Score

Status

Chromosome

Chromosomal Location

32615462-32653271 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32643974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1016 (S1016P)

Ref Sequence

ENSEMBL: ENSMUSP00000136016 (fasta)

Gene Model

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

AlphaFold

Q9WUF3

Predicted Effect

probably damaging
Transcript: ENSMUST00000029950
AA Change: S1016P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029950
Gene: ENSMUSG00000028282
AA Change: S1016P

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

noncoding transcript
Transcript: ENSMUST00000127619

Predicted Effect

probably damaging
Transcript: ENSMUST00000178925
AA Change: S1016P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136016
Gene: ENSMUSG00000028282
AA Change: S1016P

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
4930451I11Rik	T	C	7: 126,429,931 (GRCm39)	T89A	probably benign	Het
Amhr2	T	C	15: 102,360,924 (GRCm39)	V353A	probably benign	Het
Bbox1	A	T	2: 110,105,961 (GRCm39)	Y194*	probably null	Het
Bltp1	T	A	3: 36,975,586 (GRCm39)		probably benign	Het
Bnipl	C	A	3: 95,153,086 (GRCm39)	R131L	possibly damaging	Het
Cblb	A	G	16: 51,867,657 (GRCm39)	I88M	possibly damaging	Het
Cyp24a1	A	T	2: 170,338,278 (GRCm39)	Y89N	probably damaging	Het
Ddx25	G	T	9: 35,458,122 (GRCm39)	N332K	possibly damaging	Het
Dnaaf5	C	T	5: 139,163,671 (GRCm39)	Q348*	probably null	Het
Dnah3	A	T	7: 119,550,494 (GRCm39)	I3264N	probably damaging	Het
Eml4	T	A	17: 83,763,808 (GRCm39)		probably null	Het
Farsa	C	T	8: 85,594,455 (GRCm39)	A368V	probably damaging	Het
Fat1	T	C	8: 45,403,368 (GRCm39)	Y40H	probably damaging	Het
Glt1d1	T	A	5: 127,734,208 (GRCm39)		probably benign	Het
Gm5422	A	G	10: 31,126,003 (GRCm39)		noncoding transcript	Het
Gpr135	A	G	12: 72,116,732 (GRCm39)	I345T	probably damaging	Het
Hmcn2	G	A	2: 31,314,389 (GRCm39)	V3616I	probably benign	Het
Kif9	A	T	9: 110,339,538 (GRCm39)	K460M	probably damaging	Het
Ldhd	T	C	8: 112,353,922 (GRCm39)	E426G	probably benign	Het
Mdh1	A	T	11: 21,509,786 (GRCm39)	N196K	probably benign	Het
Nfkb1	A	T	3: 135,310,968 (GRCm39)	C444S	probably benign	Het
Pfkfb2	G	A	1: 130,635,319 (GRCm39)	R81C	probably damaging	Het
Pfpl	T	C	19: 12,407,327 (GRCm39)	V526A	possibly damaging	Het
Phf20l1	T	A	15: 66,511,874 (GRCm39)	V951E	probably damaging	Het
Pik3cg	A	T	12: 32,226,809 (GRCm39)	L1026Q	probably damaging	Het
Pms1	T	C	1: 53,247,156 (GRCm39)	N263S	probably damaging	Het
Prkcb	T	A	7: 122,226,990 (GRCm39)	F659I	probably damaging	Het
Prr14	A	G	7: 127,075,108 (GRCm39)	I69M	probably damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Senp5	T	C	16: 31,808,690 (GRCm39)	H161R	probably benign	Het
Spc25	A	G	2: 69,035,273 (GRCm39)		probably benign	Het
Spty2d1	A	G	7: 46,647,321 (GRCm39)	V536A	probably damaging	Het
Susd2	A	G	10: 75,476,772 (GRCm39)	S84P	possibly damaging	Het
Tacc1	A	C	8: 25,649,797 (GRCm39)	L768V	probably damaging	Het
Tbpl2	A	T	2: 23,986,531 (GRCm39)	I5N	probably benign	Het
Tmc2	A	G	2: 130,071,126 (GRCm39)	D285G	probably damaging	Het
Tns3	A	T	11: 8,384,531 (GRCm39)	V1429E	probably damaging	Het
Trmt44	T	C	5: 35,731,457 (GRCm39)	Y190C	probably damaging	Het
Ubr4	G	A	4: 139,199,889 (GRCm39)	R4591H	possibly damaging	Het
Zfc3h1	T	A	10: 115,263,004 (GRCm39)	D1739E	probably benign	Het
Zfp26	A	G	9: 20,352,744 (GRCm39)	V107A	probably damaging	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
IGL00970:Casp8ap2	APN	4	32,646,182 (GRCm39)	missense	probably benign
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
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

2015-04-16