Mutagenetix > Incidental Mutation

Incidental Mutation 'R1936:Cflar'

215755

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

MMRRC Submission

039954-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1936 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58750667-58798043 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 58791784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 362 (Y362*)

Ref Sequence

ENSEMBL: ENSMUSP00000109952 (fasta)

Gene Model

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

AlphaFold

O35732

Predicted Effect

probably null
Transcript: ENSMUST00000069333
AA Change: Y362*

SMART Domains

Protein: ENSMUSP00000065107
Gene: ENSMUSG00000026031
AA Change: Y362*

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

probably null
Transcript: ENSMUST00000097722
AA Change: Y365*

SMART Domains

Protein: ENSMUSP00000095329
Gene: ENSMUSG00000026031
AA Change: Y365*

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

probably null
Transcript: ENSMUST00000114313
AA Change: Y362*

SMART Domains

Protein: ENSMUSP00000109952
Gene: ENSMUSG00000026031
AA Change: Y362*

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

0.9755

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

Validation Efficiency

99% (98/99)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,894,061 (GRCm39)	Q226R	possibly damaging	Het
Abca13	G	A	11: 9,243,595 (GRCm39)	M1819I	probably benign	Het
Abca4	G	A	3: 121,846,572 (GRCm39)	V30M	probably benign	Het
Ablim1	T	A	19: 57,204,397 (GRCm39)		probably null	Het
Adgrf3	A	T	5: 30,407,304 (GRCm39)	N207K	probably benign	Het
Anapc4	T	A	5: 52,997,010 (GRCm39)	D94E	probably damaging	Het
Arfgef2	A	G	2: 166,705,523 (GRCm39)	N918S	probably benign	Het
Arhgap45	A	G	10: 79,866,788 (GRCm39)	N1097S	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
AU016765	G	A	17: 64,826,873 (GRCm39)		noncoding transcript	Het
Brd10	A	G	19: 29,731,077 (GRCm39)	F712S	possibly damaging	Het
Cacna2d2	T	C	9: 107,386,455 (GRCm39)	F194S	probably damaging	Het
Cacna2d4	A	G	6: 119,247,722 (GRCm39)	D341G	possibly damaging	Het
Cdc42bpg	A	G	19: 6,360,339 (GRCm39)	Y175C	probably damaging	Het
Cep170b	G	T	12: 112,702,172 (GRCm39)	D322Y	probably damaging	Het
Chml	A	T	1: 175,514,825 (GRCm39)	C365*	probably null	Het
Clrn3	A	C	7: 135,115,753 (GRCm39)	I199S	possibly damaging	Het
Crtam	G	C	9: 40,915,846 (GRCm39)	P13A	probably benign	Het
Defb26	T	A	2: 152,350,195 (GRCm39)	K28N	possibly damaging	Het
Dennd1c	G	A	17: 57,380,889 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,768,323 (GRCm39)	M761K	possibly damaging	Het
Dnhd1	A	T	7: 105,323,183 (GRCm39)	M564L	probably benign	Het
Dusp15	A	G	2: 152,787,341 (GRCm39)		probably benign	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Eapp	A	T	12: 54,720,513 (GRCm39)	M234K	probably benign	Het
Epha8	T	C	4: 136,667,554 (GRCm39)	D309G	probably benign	Het
Gfi1b	T	C	2: 28,500,125 (GRCm39)	K302R	possibly damaging	Het
Gimap3	A	T	6: 48,742,683 (GRCm39)	F82L	probably damaging	Het
Gm4862	T	C	3: 138,834,253 (GRCm39)		noncoding transcript	Het
Gpatch1	A	G	7: 34,994,947 (GRCm39)	S440P	probably damaging	Het
Gpr152	A	G	19: 4,192,531 (GRCm39)	D24G	probably damaging	Het
Gpr6	T	C	10: 40,947,477 (GRCm39)	E35G	probably benign	Het
Hip1r	T	A	5: 124,134,134 (GRCm39)	M270K	probably damaging	Het
Hk3	C	T	13: 55,159,204 (GRCm39)	V451I	probably damaging	Het
Itprid1	G	T	6: 55,874,666 (GRCm39)	L205F	probably damaging	Het
Jag1	C	G	2: 136,925,393 (GRCm39)	V1070L	possibly damaging	Het
Klf16	G	A	10: 80,412,739 (GRCm39)	A99V	probably benign	Het
Lama5	T	C	2: 179,832,714 (GRCm39)	N1646S	probably benign	Het
Lvrn	A	T	18: 47,011,387 (GRCm39)	Y448F	probably benign	Het
Mark3	A	G	12: 111,584,799 (GRCm39)	M132V	probably damaging	Het
Mast3	A	G	8: 71,237,444 (GRCm39)	Y577H	probably damaging	Het
Med24	A	T	11: 98,609,642 (GRCm39)		probably null	Het
Mif	G	T	10: 75,695,681 (GRCm39)	H41N	possibly damaging	Het
Myo18b	T	C	5: 112,908,222 (GRCm39)	N2017S	probably benign	Het
Neurl4	C	T	11: 69,797,959 (GRCm39)	R740C	probably damaging	Het
Nlgn1	G	T	3: 26,385,939 (GRCm39)		probably benign	Het
Or10ad1c	T	A	15: 98,085,462 (GRCm39)	H72L	probably benign	Het
Or2ak6	T	A	11: 58,593,172 (GRCm39)	L215Q	probably damaging	Het
Or5t15	A	G	2: 86,681,745 (GRCm39)	M99T	probably benign	Het
Or8b12i	A	G	9: 20,082,477 (GRCm39)	L130P	probably damaging	Het
Paip1	T	A	13: 119,593,550 (GRCm39)	M463K	probably damaging	Het
Parp3	T	A	9: 106,351,931 (GRCm39)	Y147F	probably damaging	Het
Pgrmc2	C	A	3: 41,037,473 (GRCm39)		probably benign	Het
Phldb3	G	A	7: 24,316,832 (GRCm39)	A278T	probably benign	Het
Plxnb1	T	C	9: 108,924,715 (GRCm39)		probably null	Het
Pphln1	A	G	15: 93,386,868 (GRCm39)	D234G	possibly damaging	Het
Prdm2	T	C	4: 142,861,032 (GRCm39)	S753G	probably benign	Het
Prss32	A	G	17: 24,075,024 (GRCm39)	R125G	possibly damaging	Het
Psg22	A	T	7: 18,453,635 (GRCm39)	N149I	probably damaging	Het
Psmd11	T	C	11: 80,319,570 (GRCm39)	L20P	probably damaging	Het
Recql5	T	C	11: 115,788,017 (GRCm39)	Y434C	probably benign	Het
Rexo1	A	G	10: 80,386,303 (GRCm39)	S252P	probably benign	Het
Sdr9c7	A	G	10: 127,739,503 (GRCm39)	K206R	probably benign	Het
Slc17a8	T	C	10: 89,413,777 (GRCm39)	M484V	probably benign	Het
Slc1a2	A	G	2: 102,607,950 (GRCm39)	N530D	probably benign	Het
Slc25a14	G	A	X: 47,740,840 (GRCm39)	V210I	probably benign	Het
Slc25a24	A	T	3: 109,043,581 (GRCm39)	E79D	probably damaging	Het
Smchd1	T	C	17: 71,770,786 (GRCm39)	Y132C	probably damaging	Het
Sorcs1	T	C	19: 50,221,082 (GRCm39)	D545G	probably damaging	Het
Sorcs2	A	G	5: 36,228,731 (GRCm39)	S104P	possibly damaging	Het
Speg	C	T	1: 75,408,052 (GRCm39)	T3249I	possibly damaging	Het
Spry4	A	G	18: 38,723,142 (GRCm39)	I207T	possibly damaging	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
Tdrd6	A	G	17: 43,937,358 (GRCm39)	L1230P	probably damaging	Het
Tesk2	A	G	4: 116,599,021 (GRCm39)	Y43C	probably benign	Het
Tex101	A	G	7: 24,367,650 (GRCm39)	V234A	probably benign	Het
Tmem161b	T	A	13: 84,441,585 (GRCm39)	L210Q	probably damaging	Het
Tmprss11f	T	A	5: 86,692,723 (GRCm39)	Q67L	probably benign	Het
Tnfrsf23	A	G	7: 143,222,291 (GRCm39)	F174L	probably benign	Het
Tnrc6c	A	G	11: 117,646,849 (GRCm39)	D1450G	possibly damaging	Het
Trdmt1	A	G	2: 13,516,420 (GRCm39)	L386P	probably damaging	Het
Trim25	A	T	11: 88,895,576 (GRCm39)	T206S	probably benign	Het
Trit1	T	C	4: 122,948,033 (GRCm39)	I451T	probably benign	Het
Trpc4	T	A	3: 54,187,311 (GRCm39)	M421K	probably damaging	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttn	A	C	2: 76,715,834 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,577,522 (GRCm39)	D24457V	probably damaging	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Vmn2r94	G	A	17: 18,464,554 (GRCm39)	R579*	probably null	Het
Vps72	T	A	3: 95,029,851 (GRCm39)	V290D	probably benign	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Zfp26	A	G	9: 20,348,849 (GRCm39)	Y572H	probably benign	Het
Zfp292	A	G	4: 34,807,452 (GRCm39)	V1864A	probably benign	Het
Zfp952	A	T	17: 33,222,643 (GRCm39)	H374L	possibly damaging	Het
Zfy2	C	A	Y: 2,121,496 (GRCm39)	M132I	probably benign	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
IGL02988:Cflar	UTSW	1	58,780,190 (GRCm39)	missense	possibly damaging	0.58
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'- TTCGCCGATATGCAAGTATGG -3'
(R):5'- AGCTTCTGCAGATACACAGAGG -3'

Sequencing Primer
(F):5'- GATATGCAAGTATGGCCCAAC -3'
(R):5'- CTTCTGCAGATACACAGAGGATGAG -3'

Posted On

2014-07-14