Mutagenetix > Incidental Mutation

Incidental Mutation 'R9723:Fasl'

730888

Institutional Source

Beutler Lab

Gene Symbol

Fasl

Ensembl Gene

ENSMUSG00000000817

Gene Name

Fas ligand

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9723 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

161608260-161616064 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 161615535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 107 (K107R)

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: K107R

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000000834
Gene: ENSMUSG00000000817
AA Change: K107R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	G	A	1: 75,156,366 (GRCm39)	R133W	probably benign	Het
Abcc3	T	A	11: 94,250,725 (GRCm39)	T877S	probably benign	Het
Alb	A	T	5: 90,611,962 (GRCm39)	K130N	probably damaging	Het
Alkbh8	G	A	9: 3,385,283 (GRCm39)	S560N	probably benign	Het
Angel2	T	G	1: 190,671,342 (GRCm39)	L234R	probably damaging	Het
Catip	C	T	1: 74,403,745 (GRCm39)	T154I	probably benign	Het
Ccdc163	C	T	4: 116,569,595 (GRCm39)	Q102*	probably null	Het
Cep250	A	G	2: 155,823,337 (GRCm39)	E997G	probably benign	Het
Ces2f	T	C	8: 105,677,463 (GRCm39)	I183T	possibly damaging	Het
Commd8	A	G	5: 72,318,309 (GRCm39)	V158A	possibly damaging	Het
Cyp2b9	C	T	7: 25,909,596 (GRCm39)	Q455*	probably null	Het
D5Ertd579e	G	T	5: 36,772,284 (GRCm39)	H704N	probably damaging	Het
Dnah1	T	C	14: 30,987,946 (GRCm39)	T3491A	probably damaging	Het
Dnai1	T	G	4: 41,603,302 (GRCm39)	F195C	possibly damaging	Het
Dock7	A	G	4: 98,908,270 (GRCm39)	V620A		Het
Dock7	A	T	4: 98,960,660 (GRCm39)	D289E		Het
Dpys	T	A	15: 39,691,509 (GRCm39)	E271V	probably damaging	Het
Elovl3	T	C	19: 46,123,155 (GRCm39)	Y244H	probably damaging	Het
Enam	G	A	5: 88,652,241 (GRCm39)	G1250E	probably damaging	Het
Espl1	C	T	15: 102,229,170 (GRCm39)	T1774M	probably benign	Het
Fbn1	A	T	2: 125,202,119 (GRCm39)	C1251*	probably null	Het
Fn1	G	T	1: 71,663,369 (GRCm39)	Q1040K	possibly damaging	Het
Frem3	C	T	8: 81,341,352 (GRCm39)	S1215L	probably benign	Het
G3bp2	A	T	5: 92,214,388 (GRCm39)	D135E	possibly damaging	Het
Gabpb1	C	T	2: 126,488,648 (GRCm39)	V240I	probably benign	Het
Galnt12	C	G	4: 47,119,541 (GRCm39)	Y452*	probably null	Het
Ggta1	G	T	2: 35,303,418 (GRCm39)	D91E	probably benign	Het
Gm12258	C	T	11: 58,750,448 (GRCm39)	P541L	unknown	Het
Gm12789	T	A	4: 101,846,083 (GRCm39)	W115R	possibly damaging	Het
Gm8126	T	C	14: 43,119,141 (GRCm39)		probably null	Het
Gpr179	A	T	11: 97,225,546 (GRCm39)	L2203H	possibly damaging	Het
H1f6	A	G	13: 23,879,906 (GRCm39)	K20E	probably damaging	Het
Hapln3	A	T	7: 78,771,736 (GRCm39)	V51E	possibly damaging	Het
Ifit1	A	G	19: 34,626,257 (GRCm39)	*464W	probably null	Het
Il1r1	A	C	1: 40,332,721 (GRCm39)	I137L	probably benign	Het
Il1rap	T	A	16: 26,442,907 (GRCm39)	M1K	probably null	Het
Lgi2	A	G	5: 52,695,843 (GRCm39)	L372P	probably damaging	Het
Lrrc46	A	G	11: 96,925,773 (GRCm39)	S230P	possibly damaging	Het
Ltbr	G	A	6: 125,284,348 (GRCm39)	R365W	probably damaging	Het
Mapk8ip3	C	A	17: 25,132,585 (GRCm39)	W339L	possibly damaging	Het
Msln	A	T	17: 25,969,008 (GRCm39)	M459K	possibly damaging	Het
Msr1	A	G	8: 40,042,357 (GRCm39)	V406A	possibly damaging	Het
Ndst2	G	T	14: 20,775,512 (GRCm39)	D659E	probably benign	Het
Npat	T	A	9: 53,473,746 (GRCm39)	S513T	probably benign	Het
Npat	T	G	9: 53,481,861 (GRCm39)	L1190V	probably damaging	Het
Npc1	A	G	18: 12,343,649 (GRCm39)	I448T	probably benign	Het
Omd	T	C	13: 49,743,838 (GRCm39)	F296S	probably damaging	Het
Oprm1	A	G	10: 6,788,514 (GRCm39)	N423S	possibly damaging	Het
Oxtr	G	A	6: 112,466,304 (GRCm39)	T152I	probably benign	Het
Pak2	A	T	16: 31,852,650 (GRCm39)	V297E	probably damaging	Het
Pcnx4	T	C	12: 72,603,039 (GRCm39)	Y434H	probably damaging	Het
Pet100	G	A	8: 3,672,374 (GRCm39)	M20I	probably damaging	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Plekhn1	A	G	4: 156,306,875 (GRCm39)	S505P	probably benign	Het
Plin5	G	A	17: 56,423,290 (GRCm39)	A90V	probably damaging	Het
Poc5	A	G	13: 96,551,026 (GRCm39)	T526A	probably benign	Het
Potefam1	T	C	2: 111,058,700 (GRCm39)	H84R	probably damaging	Het
Pramel7	C	T	2: 87,320,019 (GRCm39)	V425I	possibly damaging	Het
Rad51d	A	T	11: 82,781,162 (GRCm39)		probably null	Het
Rbp3	T	C	14: 33,677,474 (GRCm39)	M474T	possibly damaging	Het
Rcan3	A	G	4: 135,152,680 (GRCm39)	S14P	probably benign	Het
Rps6ka4	A	T	19: 6,816,663 (GRCm39)	V140E	probably damaging	Het
Rsbn1l	G	A	5: 21,101,464 (GRCm39)	S692L	possibly damaging	Het
Sgk1	A	T	10: 21,872,239 (GRCm39)	I272F	probably damaging	Het
Skor1	A	G	9: 63,053,714 (GRCm39)	V85A	probably damaging	Het
Slc12a1	A	T	2: 125,059,827 (GRCm39)	D909V	probably damaging	Het
Slc25a18	C	A	6: 120,770,489 (GRCm39)	A283E	probably benign	Het
Slc41a1	T	C	1: 131,772,103 (GRCm39)	L411P	possibly damaging	Het
Spata13	T	C	14: 60,928,498 (GRCm39)	S19P	probably damaging	Het
Stab1	T	A	14: 30,885,848 (GRCm39)	H42L	probably benign	Het
Stag3	T	A	5: 138,298,103 (GRCm39)	D698E	probably benign	Het
Syngap1	G	A	17: 27,189,510 (GRCm39)	R1305H	possibly damaging	Het
Tek	T	G	4: 94,692,539 (GRCm39)	W216G	possibly damaging	Het
Trappc9	A	G	15: 72,461,963 (GRCm39)	Y1101H	possibly damaging	Het
Ttn	A	G	2: 76,601,929 (GRCm39)	Y10251H	probably damaging	Het
Uhrf1	A	G	17: 56,625,061 (GRCm39)	K535E	probably damaging	Het
Usp14	G	T	18: 10,009,993 (GRCm39)	Q185K	probably damaging	Het
Usp32	A	T	11: 84,935,536 (GRCm39)	Y413*	probably null	Het
Uvssa	G	A	5: 33,547,382 (GRCm39)		probably null	Het
Vmn1r177	A	T	7: 23,565,774 (GRCm39)	L34Q	probably damaging	Het
Wdr41	T	C	13: 95,151,671 (GRCm39)	L277P	probably damaging	Het
Zc2hc1b	T	A	10: 13,044,497 (GRCm39)	L55F	probably damaging	Het
Zfp345	A	C	2: 150,314,189 (GRCm39)	Y449*	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
R6785:Fasl	UTSW	1	161,609,404 (GRCm39)	missense	probably benign	0.10
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

Predicted Primers

PCR Primer
(F):5'- AGGGGATTGAAAAGATCCTTGCC -3'
(R):5'- AGTGCCACTTCATCTTGGGC -3'

Sequencing Primer
(F):5'- AAAGATCCTTGCCTTTAAAAACAAC -3'
(R):5'- CCATCTTGTGGGCCTAGAGG -3'

Posted On

2022-10-06