Mutagenetix > Incidental Mutation

Incidental Mutation 'R4765:Cflar'

366027

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

042406-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58750667-58798043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58771480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 203 (S203P)

Ref Sequence

ENSEMBL: ENSMUSP00000109948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069333] [ENSMUST00000097722] [ENSMUST00000114309] [ENSMUST00000114313]

AlphaFold

O35732

Predicted Effect

probably benign
Transcript: ENSMUST00000069333
AA Change: S203P

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000065107
Gene: ENSMUSG00000026031
AA Change: S203P

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 benign
Transcript: ENSMUST00000097722

SMART Domains

Protein: ENSMUSP00000095329
Gene: ENSMUSG00000026031

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 damaging
Transcript: ENSMUST00000114309
AA Change: S203P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109948
Gene: ENSMUSG00000026031
AA Change: S203P

Domain	Start	End	E-Value	Type
DED	6	78	8.94e-22	SMART
DED	96	175	4.33e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114313
AA Change: S203P

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109952
Gene: ENSMUSG00000026031
AA Change: S203P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164900

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,771,987 (GRCm39)	R490C	probably benign	Het
Abcb11	A	T	2: 69,076,211 (GRCm39)	F1166I	probably damaging	Het
Acta2	T	C	19: 34,223,552 (GRCm39)	D181G	probably damaging	Het
Adgrv1	A	G	13: 81,255,038 (GRCm39)	I6195T	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankfy1	T	G	11: 72,603,117 (GRCm39)	S49A	probably benign	Het
Azi2	A	T	9: 117,890,539 (GRCm39)		probably benign	Het
Bend3	A	T	10: 43,386,746 (GRCm39)	S380C	probably damaging	Het
Bicc1	T	C	10: 70,776,423 (GRCm39)	T759A	probably damaging	Het
Cdh10	G	T	15: 19,013,364 (GRCm39)	V655L	probably damaging	Het
Cdkn2aip	C	A	8: 48,166,582 (GRCm39)	W75L	probably damaging	Het
Cenpj	G	A	14: 56,787,002 (GRCm39)	R192*	probably null	Het
Chd6	A	T	2: 160,808,164 (GRCm39)	C1683*	probably null	Het
Cpsf2	A	G	12: 101,963,699 (GRCm39)	Y476C	probably damaging	Het
Cyp4a12a	A	G	4: 115,183,388 (GRCm39)	D169G	possibly damaging	Het
D430041D05Rik	T	A	2: 104,044,441 (GRCm39)	R1536S	probably damaging	Het
Depdc5	A	C	5: 33,094,979 (GRCm39)	D752A	probably damaging	Het
Dnah9	C	T	11: 65,818,552 (GRCm39)	G78D	probably damaging	Het
Drc1	G	T	5: 30,506,075 (GRCm39)	Q249H	probably benign	Het
Drg1	T	C	11: 3,200,280 (GRCm39)	I364V	probably benign	Het
Dtymk	T	C	1: 93,720,631 (GRCm39)	H130R	probably damaging	Het
Elac2	T	G	11: 64,883,048 (GRCm39)	F140V	probably damaging	Het
Enpp2	A	G	15: 54,739,068 (GRCm39)	V353A	possibly damaging	Het
Fat2	T	C	11: 55,172,013 (GRCm39)	D2900G	probably damaging	Het
Fermt2	G	T	14: 45,699,693 (GRCm39)	T536K	probably benign	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gadl1	A	G	9: 115,795,381 (GRCm39)	K328R	probably null	Het
Gata6	A	G	18: 11,054,394 (GRCm39)	T108A	probably benign	Het
Gm16503	G	T	4: 147,625,554 (GRCm39)	G16V	unknown	Het
Gpr37	T	G	6: 25,669,107 (GRCm39)	E579A	probably damaging	Het
Gps2	T	C	11: 69,807,187 (GRCm39)		probably benign	Het
Hcn4	A	T	9: 58,765,260 (GRCm39)	I581F	unknown	Het
Hfm1	T	A	5: 106,990,405 (GRCm39)	Y1335F	probably benign	Het
Igsf10	A	T	3: 59,237,126 (GRCm39)	S1018R	probably benign	Het
Katnal2	C	T	18: 77,065,239 (GRCm39)		probably null	Het
Kctd8	T	C	5: 69,498,191 (GRCm39)	K152E	possibly damaging	Het
Lrp8	T	C	4: 107,711,592 (GRCm39)	C459R	probably damaging	Het
Ly6l	A	T	15: 75,321,543 (GRCm39)	I48L	probably benign	Het
Megf10	A	T	18: 57,420,866 (GRCm39)	I835F	possibly damaging	Het
Mei1	A	T	15: 81,996,686 (GRCm39)	I946F	possibly damaging	Het
Mrtfb	C	A	16: 13,230,458 (GRCm39)	P1048T	probably damaging	Het
Myo7b	G	C	18: 32,094,953 (GRCm39)	L1881V	probably benign	Het
Nfkbiz	T	C	16: 55,639,387 (GRCm39)		probably null	Het
Or4b13	T	A	2: 90,082,807 (GRCm39)	Y175F	probably damaging	Het
Or5b24	T	C	19: 12,912,440 (GRCm39)	C113R	possibly damaging	Het
Pcdhgc5	T	C	18: 37,955,122 (GRCm39)	S799P	probably benign	Het
Plk4	A	G	3: 40,756,457 (GRCm39)	E97G	probably damaging	Het
Pole2	A	T	12: 69,268,826 (GRCm39)	H114Q	possibly damaging	Het
Rad9a	C	A	19: 4,250,488 (GRCm39)	V109L	probably benign	Het
Scn8a	A	G	15: 100,938,352 (GRCm39)	H1917R	probably benign	Het
Scyl2	C	T	10: 89,495,160 (GRCm39)	V304I	probably damaging	Het
Serpina3f	G	C	12: 104,185,690 (GRCm39)	E298D	probably benign	Het
Shoc2	A	G	19: 53,976,734 (GRCm39)	E208G	probably benign	Het
Sin3a	G	A	9: 57,004,087 (GRCm39)	V280I	probably benign	Het
Slc26a2	A	T	18: 61,332,558 (GRCm39)	I291N	probably damaging	Het
Slc4a7	T	G	14: 14,762,414 (GRCm38)	D600E	probably damaging	Het
Slc5a6	A	T	5: 31,195,427 (GRCm39)	F430L	possibly damaging	Het
Snx19	A	C	9: 30,351,453 (GRCm39)	Q840H	probably damaging	Het
Spast	C	A	17: 74,676,211 (GRCm39)	D340E	probably damaging	Het
Sprr4	G	A	3: 92,407,716 (GRCm39)	P29S	unknown	Het
Stk11ip	T	G	1: 75,503,799 (GRCm39)	L239R	probably damaging	Het
Thoc6	A	G	17: 23,889,862 (GRCm39)	L20P	probably damaging	Het
Tnfrsf8	A	T	4: 145,023,447 (GRCm39)	S129T	probably benign	Het
Tnrc6c	A	G	11: 117,633,753 (GRCm39)	I1284V	probably benign	Het
Ttn	T	C	2: 76,602,851 (GRCm39)	Y16711C	probably damaging	Het
Ttn	A	G	2: 76,541,331 (GRCm39)	L33885P	probably damaging	Het
Ubn2	T	A	6: 38,456,075 (GRCm39)	C501S	probably damaging	Het
Ubr1	A	T	2: 120,793,923 (GRCm39)	L87*	probably null	Het
Uhmk1	T	C	1: 170,027,470 (GRCm39)	Y320C	probably damaging	Het
Vldlr	T	C	19: 27,217,947 (GRCm39)	V465A	probably damaging	Het
Vmn1r1	C	T	1: 181,985,471 (GRCm39)	A65T	probably benign	Het
Vmn2r25	C	T	6: 123,800,182 (GRCm39)	C720Y	probably damaging	Het
Xrra1	T	C	7: 99,555,775 (GRCm39)	Y381H	probably benign	Het
Zfhx4	T	C	3: 5,465,212 (GRCm39)	L1790P	probably benign	Het
Zscan4d	T	A	7: 10,896,594 (GRCm39)	M259L	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
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
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'- CAGGTTTAAGGTGTTTTGAAAGACG -3'
(R):5'- TCCACAGTAGTCATGCCCAG -3'

Sequencing Primer
(F):5'- TTTTGAAAGACGACGGTTGAC -3'
(R):5'- ACAGTAGTCATGCCCAGATAATG -3'

Posted On

2015-12-21