Mutagenetix > Incidental Mutations

Incidental Mutation 'R4765:Cflar'

366027

Institutional Source

Beutler Lab

Gene Symbol

Cflar

Ensembl Gene

ENSMUSG00000026031

Gene Name

CASP8 and FADD-like apoptosis regulator

Synonyms

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

MMRRC Submission

042406-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58711508-58758884 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58732321 bp

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]

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: 58,881,161	R490C	probably benign	Het
Abcb11	A	T	2: 69,245,867	F1166I	probably damaging	Het
Acta2	T	C	19: 34,246,152	D181G	probably damaging	Het
Adgrv1	A	G	13: 81,106,919	I6195T	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ankfy1	T	G	11: 72,712,291	S49A	probably benign	Het
Azi2	A	T	9: 118,061,471		probably benign	Het
Bend3	A	T	10: 43,510,750	S380C	probably damaging	Het
Bicc1	T	C	10: 70,940,593	T759A	probably damaging	Het
Cdh10	G	T	15: 19,013,278	V655L	probably damaging	Het
Cdkn2aip	C	A	8: 47,713,547	W75L	probably damaging	Het
Cenpj	G	A	14: 56,549,545	R192*	probably null	Het
Chd6	A	T	2: 160,966,244	C1683*	probably null	Het
Cpsf2	A	G	12: 101,997,440	Y476C	probably damaging	Het
Cyp4a12a	A	G	4: 115,326,191	D169G	possibly damaging	Het
D430041D05Rik	T	A	2: 104,214,096	R1536S	probably damaging	Het
Depdc5	A	C	5: 32,937,635	D752A	probably damaging	Het
Dnah9	C	T	11: 65,927,726	G78D	probably damaging	Het
Drc1	G	T	5: 30,348,731	Q249H	probably benign	Het
Drg1	T	C	11: 3,250,280	I364V	probably benign	Het
Dtymk	T	C	1: 93,792,909	H130R	probably damaging	Het
Elac2	T	G	11: 64,992,222	F140V	probably damaging	Het
Enpp2	A	G	15: 54,875,672	V353A	possibly damaging	Het
Fat2	T	C	11: 55,281,187	D2900G	probably damaging	Het
Fermt2	G	T	14: 45,462,236	T536K	probably benign	Het
Foxj2	G	T	6: 122,833,271	Q196H	probably benign	Het
Gadl1	A	G	9: 115,966,313	K328R	probably null	Het
Gata6	A	G	18: 11,054,394	T108A	probably benign	Het
Gm16503	G	T	4: 147,541,097	G16V	unknown	Het
Gpr37	T	G	6: 25,669,108	E579A	probably damaging	Het
Gps2	T	C	11: 69,916,361		probably benign	Het
Hcn4	A	T	9: 58,857,977	I581F	unknown	Het
Hfm1	T	A	5: 106,842,539	Y1335F	probably benign	Het
Igsf10	A	T	3: 59,329,705	S1018R	probably benign	Het
Katnal2	C	T	18: 76,977,543		probably null	Het
Kctd8	T	C	5: 69,340,848	K152E	possibly damaging	Het
Lrp8	T	C	4: 107,854,395	C459R	probably damaging	Het
Ly6l	A	T	15: 75,449,694	I48L	probably benign	Het
Megf10	A	T	18: 57,287,794	I835F	possibly damaging	Het
Mei1	A	T	15: 82,112,485	I946F	possibly damaging	Het
Mkl2	C	A	16: 13,412,594	P1048T	probably damaging	Het
Myo7b	G	C	18: 31,961,900	L1881V	probably benign	Het
Nfkbiz	T	C	16: 55,819,024		probably null	Het
Olfr142	T	A	2: 90,252,463	Y175F	probably damaging	Het
Olfr1449	T	C	19: 12,935,076	C113R	possibly damaging	Het
Pcdhgc5	T	C	18: 37,822,069	S799P	probably benign	Het
Plk4	A	G	3: 40,802,022	E97G	probably damaging	Het
Pole2	A	T	12: 69,222,052	H114Q	possibly damaging	Het
Rad9a	C	A	19: 4,200,489	V109L	probably benign	Het
Scn8a	A	G	15: 101,040,471	H1917R	probably benign	Het
Scyl2	C	T	10: 89,659,298	V304I	probably damaging	Het
Serpina3f	G	C	12: 104,219,431	E298D	probably benign	Het
Shoc2	A	G	19: 53,988,303	E208G	probably benign	Het
Sin3a	G	A	9: 57,096,803	V280I	probably benign	Het
Slc26a2	A	T	18: 61,199,486	I291N	probably damaging	Het
Slc4a7	T	G	14: 14,762,414	D600E	probably damaging	Het
Slc5a6	A	T	5: 31,038,083	F430L	possibly damaging	Het
Snx19	A	C	9: 30,440,157	Q840H	probably damaging	Het
Spast	C	A	17: 74,369,216	D340E	probably damaging	Het
Sprr4	G	A	3: 92,500,409	P29S	unknown	Het
Stk11ip	T	G	1: 75,527,155	L239R	probably damaging	Het
Thoc6	A	G	17: 23,670,888	L20P	probably damaging	Het
Tnfrsf8	A	T	4: 145,296,877	S129T	probably benign	Het
Tnrc6c	A	G	11: 117,742,927	I1284V	probably benign	Het
Ttn	A	G	2: 76,710,987	L33885P	probably damaging	Het
Ttn	T	C	2: 76,772,507	Y16711C	probably damaging	Het
Ubn2	T	A	6: 38,479,140	C501S	probably damaging	Het
Ubr1	A	T	2: 120,963,442	L87*	probably null	Het
Uhmk1	T	C	1: 170,199,901	Y320C	probably damaging	Het
Vldlr	T	C	19: 27,240,547	V465A	probably damaging	Het
Vmn1r1	C	T	1: 182,157,906	A65T	probably benign	Het
Vmn2r25	C	T	6: 123,823,223	C720Y	probably damaging	Het
Xrra1	T	C	7: 99,906,568	Y381H	probably benign	Het
Zfhx4	T	C	3: 5,400,152	L1790P	probably benign	Het
Zscan4d	T	A	7: 11,162,667	M259L	probably benign	Het

Other mutations in Cflar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Cflar	APN	1	58732310	missense	probably benign	0.42
IGL00959:Cflar	APN	1	58729162	critical splice donor site	probably null
IGL02045:Cflar	APN	1	58752744	missense	probably benign	0.25
IGL02200:Cflar	APN	1	58752669	missense	probably damaging	1.00
IGL02382:Cflar	APN	1	58752681	missense	probably benign	0.14
IGL03032:Cflar	APN	1	58741020	missense	probably damaging	1.00
Channel_islands	UTSW	1	58753851	missense	probably benign	0.00
IGL02988:Cflar	UTSW	1	58741031	missense	possibly damaging	0.58
R1936:Cflar	UTSW	1	58752625	nonsense	probably null
R2259:Cflar	UTSW	1	58729121	missense	probably benign	0.16
R2269:Cflar	UTSW	1	58741047	critical splice donor site	probably null
R3816:Cflar	UTSW	1	58752423	missense	probably benign	0.24
R3824:Cflar	UTSW	1	58735697	missense	probably benign	0.00
R4232:Cflar	UTSW	1	58740993	missense	possibly damaging	0.92
R4644:Cflar	UTSW	1	58731267	missense	probably damaging	1.00
R4749:Cflar	UTSW	1	58740272	missense	possibly damaging	0.62
R4785:Cflar	UTSW	1	58752567	missense	probably benign	0.34
R5315:Cflar	UTSW	1	58753802	missense	probably benign	0.34
R5418:Cflar	UTSW	1	58752651	missense	possibly damaging	0.54
R5509:Cflar	UTSW	1	58752392	missense	probably benign	0.02
R5858:Cflar	UTSW	1	58753851	missense	probably benign	0.00
R5899:Cflar	UTSW	1	58752768	missense	probably benign	0.36
R6048:Cflar	UTSW	1	58741043	missense	probably benign	0.02
R7065:Cflar	UTSW	1	58731209	missense	probably damaging	1.00
R7144:Cflar	UTSW	1	58753848	missense
R7206:Cflar	UTSW	1	58740991	missense
R7384:Cflar	UTSW	1	58752576	missense
R7453:Cflar	UTSW	1	58753797	missense
R7467:Cflar	UTSW	1	58726438	start codon destroyed	probably null
R7694:Cflar	UTSW	1	58752807	missense
R7808:Cflar	UTSW	1	58711581	start gained	probably benign
R7890:Cflar	UTSW	1	58752756	missense
R8073:Cflar	UTSW	1	58752822	missense
Z1176:Cflar	UTSW	1	58731229	missense
Z1176:Cflar	UTSW	1	58740313	critical splice donor site	probably null

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