Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02988:Cflar'

453457

Institutional Source

Beutler Lab

Gene Symbol

Cflar

Ensembl Gene

ENSMUSG00000026031

Gene Name

CASP8 and FADD-like apoptosis regulator

Synonyms

Cash, c-Flip, Flip, 2310024N18Rik, Casper, A430105C05Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02988 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58750667-58798043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58780190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 265 (I265F)

Ref Sequence

ENSEMBL: ENSMUSP00000095329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069333] [ENSMUST00000097722] [ENSMUST00000114313]

AlphaFold

O35732

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069333
AA Change: I262F

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000065107
Gene: ENSMUSG00000026031
AA Change: I262F

Domain	Start	End	E-Value	Type
DED	6	78	8.94e-22	SMART
DED	96	175	4.33e-29	SMART
CASc	245	480	6.05e-92	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097722
AA Change: I265F

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095329
Gene: ENSMUSG00000026031
AA Change: I265F

Domain	Start	End	E-Value	Type
DED	6	78	8.94e-22	SMART
DED	96	175	4.33e-29	SMART
CASc	248	483	6.05e-92	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114313
AA Change: I262F

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109952
Gene: ENSMUSG00000026031
AA Change: I262F

Domain	Start	End	E-Value	Type
DED	6	78	8.94e-22	SMART
DED	96	175	4.33e-29	SMART
CASc	245	480	6.05e-92	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123032

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140940

Meta Mutation Damage Score

0.1638

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (71/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a regulator of apoptosis and is structurally similar to caspase-8. However, the encoded protein lacks caspase activity and appears to be itself cleaved into two peptides by caspase-8. Several transcript variants encoding different isoforms have been found for this gene, and partial evidence for several more variants exists. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality by E10.5. Mutant embryos exhibit cardiac developmental abnormalities and pooling of blood in the head and abdominal regions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Aadacl4fm5	T	A	4: 144,513,100 (GRCm39)		probably benign	Het
Adgrd1	G	A	5: 129,221,074 (GRCm39)	A488T	probably benign	Het
Ano3	T	C	2: 110,605,355 (GRCm39)	S284G	probably damaging	Het
Aox1	G	T	1: 58,376,509 (GRCm39)	V897L	probably benign	Het
Arl6	T	A	16: 59,434,209 (GRCm39)		probably null	Het
Blnk	G	A	19: 40,917,660 (GRCm39)	T441M	probably damaging	Het
Casp8ap2	C	T	4: 32,644,590 (GRCm39)	T1221I	probably benign	Het
Cbll1	A	T	12: 31,542,171 (GRCm39)	F63L	possibly damaging	Het
Cdk14	A	G	5: 5,086,484 (GRCm39)	Y279H	probably damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Cyp3a13	A	T	5: 137,897,272 (GRCm39)	Y347*	probably null	Het
Defa27	T	C	8: 21,805,583 (GRCm39)	S8P	probably damaging	Het
Depdc5	A	C	5: 33,113,511 (GRCm39)		probably null	Het
Dlg5	A	G	14: 24,216,323 (GRCm39)	F573S	probably damaging	Het
Fam20c	A	T	5: 138,741,749 (GRCm39)	E120V	probably benign	Het
Fam53a	T	C	5: 33,764,819 (GRCm39)	K296E	probably damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Fndc1	T	C	17: 7,972,355 (GRCm39)	T1526A	possibly damaging	Het
Gm14325	A	C	2: 177,476,042 (GRCm39)		probably null	Het
Gm7582	G	A	1: 85,019,588 (GRCm39)		noncoding transcript	Het
Golga7b	A	C	19: 42,255,239 (GRCm39)	Y63S	probably damaging	Het
Hexb	A	G	13: 97,334,729 (GRCm39)	L14P	unknown	Het
Hsd17b3	A	C	13: 64,236,914 (GRCm39)	L10R	probably damaging	Het
Il6st	T	C	13: 112,635,420 (GRCm39)	F611L	probably damaging	Het
Ints13	T	A	6: 146,457,646 (GRCm39)	T411S	possibly damaging	Het
Kif18b	C	A	11: 102,799,146 (GRCm39)	C685F	probably damaging	Het
Kif5c	A	G	2: 49,509,729 (GRCm39)	N19S	probably damaging	Het
Lmbr1	G	T	5: 29,497,221 (GRCm39)		probably null	Het
Minar1	A	G	9: 89,484,792 (GRCm39)	S202P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrc2	G	A	11: 105,216,397 (GRCm39)	R62Q	probably benign	Het
Myo1g	T	C	11: 6,458,183 (GRCm39)		probably benign	Het
Myo5a	A	T	9: 75,037,423 (GRCm39)		probably benign	Het
Nobox	G	A	6: 43,282,095 (GRCm39)	S326L	possibly damaging	Het
Nsl1	C	A	1: 190,795,300 (GRCm39)	S22*	probably null	Het
Or5b3	A	C	19: 13,388,826 (GRCm39)	K298Q	possibly damaging	Het
Or5j3	T	C	2: 86,128,823 (GRCm39)	I221T	probably damaging	Het
Pdia3	T	A	2: 121,260,037 (GRCm39)	L192Q	probably damaging	Het
Pkd2	A	T	5: 104,651,471 (GRCm39)	R940*	probably null	Het
Plcd3	T	A	11: 102,967,568 (GRCm39)	Q458L	probably benign	Het
Polm	T	A	11: 5,786,343 (GRCm39)	T75S	probably benign	Het
Pon3	T	A	6: 5,232,330 (GRCm39)	D230V	possibly damaging	Het
Pxdn	A	T	12: 30,053,113 (GRCm39)	K917*	probably null	Het
Rad54l2	A	G	9: 106,577,784 (GRCm39)	S1046P	probably benign	Het
Rb1cc1	T	C	1: 6,318,035 (GRCm39)		probably null	Het
Rnf215	A	G	11: 4,086,785 (GRCm39)	E194G	probably damaging	Het
Rorb	A	T	19: 18,915,336 (GRCm39)	F441I	probably damaging	Het
Sel1l2	C	A	2: 140,090,508 (GRCm39)	G378V	probably damaging	Het
Sema6a	G	T	18: 47,431,281 (GRCm39)	A139D	probably damaging	Het
Serpinb3d	A	T	1: 107,006,266 (GRCm39)	M274K	probably benign	Het
Siglec15	A	C	18: 78,092,462 (GRCm39)	L32R	probably damaging	Het
Siglecg	A	T	7: 43,067,476 (GRCm39)	D681V	probably damaging	Het
Slc6a13	G	T	6: 121,303,066 (GRCm39)		probably benign	Het
Slc9b2	G	T	3: 135,024,179 (GRCm39)	A77S	probably benign	Het
Slit3	T	A	11: 35,598,890 (GRCm39)	V1498D	probably damaging	Het
Snorc	A	G	1: 87,402,926 (GRCm39)		probably null	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Stxbp2	T	C	8: 3,683,267 (GRCm39)		probably benign	Het
Tbc1d9b	T	C	11: 50,042,773 (GRCm39)	S482P	possibly damaging	Het
Tec	A	G	5: 72,926,090 (GRCm39)	S321P	possibly damaging	Het
Tenm3	A	G	8: 48,688,381 (GRCm39)	M2402T	probably damaging	Het
Thrap3	G	A	4: 126,059,335 (GRCm39)		probably null	Het
Tm4sf1	A	T	3: 57,200,537 (GRCm39)		probably null	Het
Tmcc1	T	C	6: 116,019,889 (GRCm39)	E306G	probably damaging	Het
Traf3ip3	A	T	1: 192,877,182 (GRCm39)		probably null	Het
Utf1	C	T	7: 139,523,875 (GRCm39)	P30L	possibly damaging	Het
Wdfy3	A	T	5: 102,077,847 (GRCm39)	C880S	probably damaging	Het

Other mutations in Cflar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Cflar	APN	1	58,771,469 (GRCm39)	missense	probably benign	0.42
IGL00959:Cflar	APN	1	58,768,321 (GRCm39)	critical splice donor site	probably null
IGL02045:Cflar	APN	1	58,791,903 (GRCm39)	missense	probably benign	0.25
IGL02200:Cflar	APN	1	58,791,828 (GRCm39)	missense	probably damaging	1.00
IGL02382:Cflar	APN	1	58,791,840 (GRCm39)	missense	probably benign	0.14
IGL03032:Cflar	APN	1	58,780,179 (GRCm39)	missense	probably damaging	1.00
Channel_islands	UTSW	1	58,793,010 (GRCm39)	missense	probably benign	0.00
R1936:Cflar	UTSW	1	58,791,784 (GRCm39)	nonsense	probably null
R2259:Cflar	UTSW	1	58,768,280 (GRCm39)	missense	probably benign	0.16
R2269:Cflar	UTSW	1	58,780,206 (GRCm39)	critical splice donor site	probably null
R3816:Cflar	UTSW	1	58,791,582 (GRCm39)	missense	probably benign	0.24
R3824:Cflar	UTSW	1	58,774,856 (GRCm39)	missense	probably benign	0.00
R4232:Cflar	UTSW	1	58,780,152 (GRCm39)	missense	possibly damaging	0.92
R4644:Cflar	UTSW	1	58,770,426 (GRCm39)	missense	probably damaging	1.00
R4749:Cflar	UTSW	1	58,779,431 (GRCm39)	missense	possibly damaging	0.62
R4765:Cflar	UTSW	1	58,771,480 (GRCm39)	missense	probably damaging	0.98
R4785:Cflar	UTSW	1	58,791,726 (GRCm39)	missense	probably benign	0.34
R5315:Cflar	UTSW	1	58,792,961 (GRCm39)	missense	probably benign	0.34
R5418:Cflar	UTSW	1	58,791,810 (GRCm39)	missense	possibly damaging	0.54
R5509:Cflar	UTSW	1	58,791,551 (GRCm39)	missense	probably benign	0.02
R5858:Cflar	UTSW	1	58,793,010 (GRCm39)	missense	probably benign	0.00
R5899:Cflar	UTSW	1	58,791,927 (GRCm39)	missense	probably benign	0.36
R6048:Cflar	UTSW	1	58,780,202 (GRCm39)	missense	probably benign	0.02
R7065:Cflar	UTSW	1	58,770,368 (GRCm39)	missense	probably damaging	1.00
R7144:Cflar	UTSW	1	58,793,007 (GRCm39)	missense
R7206:Cflar	UTSW	1	58,780,150 (GRCm39)	missense
R7384:Cflar	UTSW	1	58,791,735 (GRCm39)	missense
R7453:Cflar	UTSW	1	58,792,956 (GRCm39)	missense
R7467:Cflar	UTSW	1	58,765,597 (GRCm39)	start codon destroyed	probably null
R7694:Cflar	UTSW	1	58,791,966 (GRCm39)	missense
R7808:Cflar	UTSW	1	58,750,740 (GRCm39)	start gained	probably benign
R7890:Cflar	UTSW	1	58,791,915 (GRCm39)	missense
R8073:Cflar	UTSW	1	58,791,981 (GRCm39)	missense
R9506:Cflar	UTSW	1	58,791,975 (GRCm39)	missense
Z1176:Cflar	UTSW	1	58,779,472 (GRCm39)	critical splice donor site	probably null
Z1176:Cflar	UTSW	1	58,770,388 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TGAGTGATTCACCTGCCAAAG -3'
(R):5'- CCACATTATCCAGGATGCACAG -3'

Sequencing Primer
(F):5'- CCTGCCAAAGGGAATGTTTAAAAC -3'
(R):5'- TGTGATGAGATCCGCTACAC -3'

Posted On

2017-02-08