Mutagenetix > Incidental Mutation

Incidental Mutation 'R6785:Fasl'

531590

Institutional Source

Beutler Lab

Gene Symbol

Fasl

Ensembl Gene

ENSMUSG00000000817

Gene Name

Fas ligand

Synonyms

Fasl, CD95L, APT1LG1, Tnfsf6, Fas-L, CD178

MMRRC Submission

044899-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.418) question?

Stock #

R6785 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

161608260-161616064 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 161609404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 194 (Y194F)

Ref Sequence

ENSEMBL: ENSMUSP00000000834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000834] [ENSMUST00000193648]

AlphaFold

P41047

Predicted Effect

probably benign
Transcript: ENSMUST00000000834
AA Change: Y194F

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000000834
Gene: ENSMUSG00000000817
AA Change: Y194F

Domain	Start	End	E-Value	Type
low complexity region	45	70	N/A	INTRINSIC
transmembrane domain	78	100	N/A	INTRINSIC
TNF	143	279	2.29e-54	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193648

SMART Domains

Protein: ENSMUSP00000141422
Gene: ENSMUSG00000000817

Domain	Start	End	E-Value	Type
Pfam:TNF	1	69	2.3e-15	PFAM

Meta Mutation Damage Score

0.2367

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation, including activation-induced cell death (AICD) of T cells and cytotoxic T lymphocyte induced cell death. It has also been implicated in the progression of several cancers. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a spontaneous allele, knock-out allele, or allele producting only the soluble isoform exhibit premature death due to the development of systemic lupus erythematosus, autoimmune glomerulonephritis, hepatomegaly, lymphadenopathy, and hypergammaglobulinaemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	A	G	2: 22,843,479 (GRCm39)	V316A	probably benign	Het
Acad12	T	C	5: 121,747,908 (GRCm39)	Y170C	probably damaging	Het
Acss2	T	C	2: 155,402,605 (GRCm39)	V587A	probably damaging	Het
Adamtsl3	A	G	7: 82,171,212 (GRCm39)	I422V	probably damaging	Het
Aldh18a1	A	G	19: 40,556,788 (GRCm39)	L375P	probably damaging	Het
B020011L13Rik	A	G	1: 117,728,799 (GRCm39)	D102G	possibly damaging	Het
Cfap74	T	A	4: 155,538,481 (GRCm39)		probably benign	Het
Coa4	G	A	7: 100,188,460 (GRCm39)	V58M	probably damaging	Het
Crybg1	T	C	10: 43,875,167 (GRCm39)	N647S	probably benign	Het
Dync1h1	G	A	12: 110,596,113 (GRCm39)	G1547S	probably damaging	Het
Espnl	A	G	1: 91,249,943 (GRCm39)	D30G	probably benign	Het
Fbxw8	T	C	5: 118,230,754 (GRCm39)	E349G	probably damaging	Het
Gen1	A	G	12: 11,312,531 (GRCm39)	V13A	possibly damaging	Het
Gm4559	A	G	7: 141,827,845 (GRCm39)	C86R	unknown	Het
H2-M9	T	C	17: 36,953,125 (GRCm39)	N61D	probably damaging	Het
H6pd	C	T	4: 150,067,247 (GRCm39)	E380K	possibly damaging	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Hnrnpd	C	A	5: 100,126,283 (GRCm39)	K67N	probably benign	Het
Hspg2	T	C	4: 137,235,709 (GRCm39)	S170P	probably damaging	Het
Igsf10	G	T	3: 59,226,665 (GRCm39)	P2336Q	probably damaging	Het
Itih3	C	T	14: 30,634,572 (GRCm39)		probably null	Het
Katnb1	T	C	8: 95,822,270 (GRCm39)	Y298H	probably benign	Het
Kif21a	A	T	15: 90,819,933 (GRCm39)	N1610K	probably damaging	Het
Lce1l	A	T	3: 92,757,500 (GRCm39)	C119*	probably null	Het
Lcn2	C	T	2: 32,277,039 (GRCm39)		probably null	Het
Lmf2	A	T	15: 89,236,236 (GRCm39)	S588T	probably benign	Het
Mboat7	A	G	7: 3,688,835 (GRCm39)	L231P	probably benign	Het
Mier2	T	C	10: 79,380,547 (GRCm39)	R288G	probably damaging	Het
Mybbp1a	T	C	11: 72,338,392 (GRCm39)	V694A	probably benign	Het
Ndnf	C	A	6: 65,680,047 (GRCm39)	L109I	probably benign	Het
Nfkb1	C	A	3: 135,321,064 (GRCm39)	E230D	probably benign	Het
Nostrin	A	G	2: 69,014,271 (GRCm39)	K409R	probably benign	Het
Or1j10	A	G	2: 36,266,854 (GRCm39)	Q22R	probably benign	Het
Or1j10	C	A	2: 36,266,963 (GRCm39)	Y58*	probably null	Het
Or8k35	T	A	2: 86,424,765 (GRCm39)	M136L	probably damaging	Het
Pdpr	C	A	8: 111,851,243 (GRCm39)	T534N	probably benign	Het
Plekhf1	G	A	7: 37,921,488 (GRCm39)	Q27*	probably null	Het
Ppp6c	A	T	2: 39,087,593 (GRCm39)	H204Q	probably benign	Het
Prrc2c	T	C	1: 162,536,670 (GRCm39)		probably benign	Het
Prrg2	A	G	7: 44,709,649 (GRCm39)	F83L	probably damaging	Het
Rab11fip3	T	G	17: 26,210,692 (GRCm39)	D938A	probably damaging	Het
Rai1	A	G	11: 60,079,620 (GRCm39)	N1228S	probably benign	Het
Ryr1	G	T	7: 28,764,299 (GRCm39)	T3060K	probably benign	Het
Scube2	A	G	7: 109,409,824 (GRCm39)	I557T	probably benign	Het
Setdb1	C	A	3: 95,233,712 (GRCm39)	R1066L	probably benign	Het
Shoc1	T	C	4: 59,049,066 (GRCm39)	M1100V	probably benign	Het
Slc35f3	T	C	8: 127,121,198 (GRCm39)	V353A	probably benign	Het
Slfn3	A	T	11: 83,105,427 (GRCm39)	T475S	possibly damaging	Het
Snrnp200	T	A	2: 127,071,085 (GRCm39)	M1122K	possibly damaging	Het
Tead4	T	A	6: 128,219,444 (GRCm39)	K223*	probably null	Het
Tex2	A	C	11: 106,424,776 (GRCm39)	I334R	probably damaging	Het
Tfdp1	C	T	8: 13,420,485 (GRCm39)	R105W	probably damaging	Het
Tfdp1	G	T	8: 13,427,233 (GRCm39)	V393F	possibly damaging	Het
Thsd7b	T	C	1: 129,358,644 (GRCm39)	L26P	probably damaging	Het
Trim80	T	C	11: 115,332,027 (GRCm39)	I73T	probably damaging	Het
Tssk4	T	A	14: 55,887,932 (GRCm39)	Y43N	probably damaging	Het
Ttn	T	C	2: 76,541,839 (GRCm39)	T25389A	probably damaging	Het
Ttn	A	T	2: 76,578,288 (GRCm39)	F24202I	probably damaging	Het
Vmn1r177	A	G	7: 23,565,562 (GRCm39)	S105P	probably damaging	Het
Vmn2r40	T	A	7: 8,911,203 (GRCm39)	T697S	probably benign	Het
Zfp267	T	A	3: 36,219,601 (GRCm39)	C541*	probably null	Het

Other mutations in Fasl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Fasl	APN	1	161,609,407 (GRCm39)	missense	probably damaging	0.99
IGL01510:Fasl	APN	1	161,609,522 (GRCm39)	missense	possibly damaging	0.50
riogrande	UTSW	1	161,615,733 (GRCm39)	missense	probably benign
riogrande2	UTSW	1	161,614,707 (GRCm39)	missense	probably benign	0.00
ANU22:Fasl	UTSW	1	161,609,407 (GRCm39)	missense	probably damaging	0.99
R0012:Fasl	UTSW	1	161,615,733 (GRCm39)	missense	probably benign
R0454:Fasl	UTSW	1	161,615,523 (GRCm39)	missense	probably benign	0.16
R2167:Fasl	UTSW	1	161,614,707 (GRCm39)	missense	probably benign	0.00
R3794:Fasl	UTSW	1	161,609,306 (GRCm39)	missense	probably benign	0.16
R3911:Fasl	UTSW	1	161,615,760 (GRCm39)	missense	probably benign	0.10
R4082:Fasl	UTSW	1	161,609,420 (GRCm39)	missense	probably damaging	1.00
R4596:Fasl	UTSW	1	161,615,838 (GRCm39)	missense	probably benign	0.31
R4622:Fasl	UTSW	1	161,614,703 (GRCm39)	missense	probably benign	0.00
R6969:Fasl	UTSW	1	161,609,244 (GRCm39)	missense	probably damaging	0.98
R7248:Fasl	UTSW	1	161,615,760 (GRCm39)	missense	possibly damaging	0.90
R7336:Fasl	UTSW	1	161,615,557 (GRCm39)	missense	probably damaging	1.00
R8135:Fasl	UTSW	1	161,614,697 (GRCm39)	missense	probably benign
R9322:Fasl	UTSW	1	161,609,512 (GRCm39)	missense	probably damaging	1.00
R9723:Fasl	UTSW	1	161,615,535 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ACTGGTAAGATTGAATACTGCCCC -3'
(R):5'- CGTGCTGAAGAAACTCAGTGG -3'

Sequencing Primer
(F):5'- CCAGGTAGCTGCTGTGGG -3'
(R):5'- ACTTTAGTTAAGGGATGCATGTCAG -3'

Posted On

2018-08-29