Mutagenetix > Incidental Mutation

Incidental Mutation 'R7808:Cflar'

600904

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7808 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58711508-58758884 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

A to G at 58711581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109952 (fasta)

Gene Model

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

AlphaFold

O35732

Predicted Effect

probably benign
Transcript: ENSMUST00000069333

SMART Domains

Protein: ENSMUSP00000065107
Gene: ENSMUSG00000026031

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 benign
Transcript: ENSMUST00000114309

SMART Domains

Protein: ENSMUSP00000109948
Gene: ENSMUSG00000026031

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

SMART Domains

Protein: ENSMUSP00000109952
Gene: ENSMUSG00000026031

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (86/87)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	T	C	2: 91,444,594		probably benign	Het
1700113H08Rik	T	C	10: 87,121,435	V11A	probably benign	Het
Abca12	A	T	1: 71,274,634		probably null	Het
Abcc12	T	A	8: 86,507,939	M1232L	probably benign	Het
Adamts1	T	C	16: 85,800,229	Y314C	probably damaging	Het
Adgb	A	G	10: 10,378,659		probably null	Het
Ankrd12	T	A	17: 65,985,653	K928N	possibly damaging	Het
Ano5	A	T	7: 51,587,795	K789I	possibly damaging	Het
Cacna1d	G	T	14: 30,111,069	N938K	probably damaging	Het
Camk1g	T	C	1: 193,350,285	R273G	possibly damaging	Het
Caprin2	C	A	6: 148,843,030	V966F	probably damaging	Het
Card6	T	C	15: 5,099,472	H814R	probably benign	Het
Ccdc84	T	C	9: 44,412,918	Q228R	probably null	Het
Cftr	T	A	6: 18,204,205	N66K	probably benign	Het
Clasrp	C	T	7: 19,588,746		probably null	Het
Clec4a4	T	C	6: 122,990,380	I5T	probably damaging	Het
Cmtr2	T	C	8: 110,221,619	I187T	possibly damaging	Het
Cnga1	A	T	5: 72,604,273	F633I	possibly damaging	Het
Col16a1	C	T	4: 130,073,264	P909S	unknown	Het
Csf1	C	A	3: 107,760,045	A7S	possibly damaging	Het
Dhx30	A	T	9: 110,086,202	V833D	probably benign	Het
Dlg2	T	G	7: 92,431,055	I712M	probably benign	Het
Dmxl1	T	A	18: 49,878,315	F1180I	probably benign	Het
Dnah9	T	A	11: 66,005,805	K2398*	probably null	Het
Dus1l	C	T	11: 120,789,436	G471D	possibly damaging	Het
Dync1h1	A	T	12: 110,655,459	N3412I	possibly damaging	Het
Dync1i2	T	A	2: 71,250,834		probably null	Het
Dysf	T	C	6: 84,070,929	S333P	possibly damaging	Het
Eed	A	T	7: 89,956,333	N349K	probably benign	Het
Eipr1	A	T	12: 28,766,770		probably null	Het
Fam160a2	G	A	7: 105,384,525	R509C	probably damaging	Het
Fbxw16	A	C	9: 109,448,154	V40G	probably damaging	Het
Fgfr4	A	C	13: 55,161,156	R363S	possibly damaging	Het
Fgl2	A	T	5: 21,373,231	N172I	possibly damaging	Het
Gabbr2	T	A	4: 46,875,744	H126L	possibly damaging	Het
Gcnt2	A	T	13: 40,860,862	N170Y	possibly damaging	Het
Gpt	A	G	15: 76,698,893		probably null	Het
Igsf10	A	G	3: 59,328,068	I1564T	probably benign	Het
Il22ra1	C	A	4: 135,750,796	Q393K	possibly damaging	Het
Inpp5d	A	T	1: 87,683,845	K340*	probably null	Het
Jcad	A	G	18: 4,673,113	K292E	probably damaging	Het
Krt5	T	A	15: 101,709,018	T427S	probably benign	Het
Krt76	T	C	15: 101,890,494	D252G	probably damaging	Het
Krtap26-1	A	G	16: 88,647,310	V141A	not run	Het
Lce6a	A	T	3: 92,620,335	V55D	probably benign	Het
Lpxn	C	T	19: 12,824,821	S170F	possibly damaging	Het
Magi2	T	C	5: 20,465,840	V394A	probably benign	Het
Mbnl1	G	A	3: 60,614,821		probably null	Het
Med16	T	A	10: 79,898,418	K554M	probably damaging	Het
Mettl14	T	C	3: 123,372,585	D276G	possibly damaging	Het
Mphosph9	T	C	5: 124,260,946	D1002G	probably damaging	Het
Mroh9	T	C	1: 163,039,109	E686G	probably damaging	Het
Nav1	T	C	1: 135,452,248	Y1512C	unknown	Het
Neb	T	C	2: 52,192,023	Y5712C	probably damaging	Het
Nek7	T	A	1: 138,561,771		probably benign	Het
Nptx1	T	A	11: 119,544,636	I285F	probably damaging	Het
Oas1d	G	T	5: 120,914,971	E30*	probably null	Het
Olfr404-ps1	A	T	11: 74,239,899	I112F	probably damaging	Het
Olfr429	C	A	1: 174,089,851	Y270*	probably null	Het
Olfr577	A	G	7: 102,973,110	V294A	possibly damaging	Het
Parp4	T	G	14: 56,635,748	S1150A	possibly damaging	Het
Pinx1	A	T	14: 63,919,292	K223*	probably null	Het
Plekha5	T	C	6: 140,583,914	L1034S	probably damaging	Het
Ppp4r3a	A	G	12: 101,053,496	V400A	possibly damaging	Het
Prtg	A	T	9: 72,842,697	I128F	possibly damaging	Het
Rars	T	C	11: 35,828,707	E96G	probably benign	Het
Rhpn1	T	A	15: 75,713,450	S551T	probably benign	Het
Selenow	C	T	7: 15,922,251		probably null	Het
Serpina9	A	T	12: 104,001,225		probably null	Het
Shank3	A	T	15: 89,548,880	D1276V	probably damaging	Het
Slc17a2	A	C	13: 23,819,334	H285P	probably damaging	Het
Slc27a6	A	G	18: 58,609,195	T494A	probably damaging	Het
Slc6a21	A	C	7: 45,282,936	T54P		Het
Syne2	A	G	12: 75,983,727		probably null	Het
Tal1	T	C	4: 115,068,292	V186A	probably benign	Het
Tarsl2	A	G	7: 65,652,261	K178E	probably benign	Het
Tex10	T	A	4: 48,459,984	I456L	probably benign	Het
Tfcp2	A	G	15: 100,522,429	F175S	probably damaging	Het
Timp2	C	T	11: 118,303,800	A188T	probably damaging	Het
Tmc5	T	A	7: 118,669,217	I836N	probably damaging	Het
Tmem100	T	A	11: 90,035,476	M43K	probably benign	Het
Ulk2	A	G	11: 61,854,552	Y9H	probably damaging	Het
Usp7	T	C	16: 8,705,163	K311E	probably damaging	Het
Vmn1r238	G	A	18: 3,123,033	T127I	probably benign	Het
Vmn2r28	T	C	7: 5,493,679	Y58C	probably damaging	Het
Wdr55	G	A	18: 36,760,416	G44S	probably benign	Het
Zfp677	C	A	17: 21,397,385	H235N	probably damaging	Het
Zfp869	T	A	8: 69,706,986	R312S	probably damaging	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
R4765:Cflar	UTSW	1	58732321	missense	probably damaging	0.98
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
R7890:Cflar	UTSW	1	58752756	missense
R8073:Cflar	UTSW	1	58752822	missense
R9506:Cflar	UTSW	1	58752816	missense
Z1176:Cflar	UTSW	1	58731229	missense
Z1176:Cflar	UTSW	1	58740313	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGACTGCTCGGAAGACCTTTG -3'
(R):5'- GTTCTTACCCAGCCAGCAAAG -3'

Sequencing Primer
(F):5'- GTCTTTGCTAAAAACCCGGC -3'
(R):5'- GTAAAGGAGCTACAGTCCTCCG -3'

Posted On

2019-11-26