Mutagenetix > Incidental Mutation

Incidental Mutation 'R4082:Fasl'

316910

Institutional Source

Beutler Lab

Gene Symbol

Fasl

Ensembl Gene

ENSMUSG00000000817

Gene Name

Fas ligand

Synonyms

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

MMRRC Submission

041624-MU

Accession Numbers

Essential gene?

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

Stock #

R4082 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

161608260-161616064 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 161609420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 189 (V189M)

Ref Sequence

ENSEMBL: ENSMUSP00000000834 (fasta)

Gene Model

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

AlphaFold

P41047

Predicted Effect

probably damaging
Transcript: ENSMUST00000000834
AA Change: V189M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000834
Gene: ENSMUSG00000000817
AA Change: V189M

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (73/74)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021P04Rik	T	G	19: 24,043,366 (GRCm39)		noncoding transcript	Het
a	A	T	2: 154,887,678 (GRCm39)	D46V	probably damaging	Het
Aass	A	T	6: 23,109,497 (GRCm39)	D324E	possibly damaging	Het
Abca12	G	T	1: 71,306,622 (GRCm39)	T2028K	possibly damaging	Het
Abt1	T	C	13: 23,606,316 (GRCm39)	T213A	probably benign	Het
Adcy1	A	C	11: 7,014,117 (GRCm39)	Y173S	probably damaging	Het
Aim2	T	C	1: 173,287,417 (GRCm39)		probably null	Het
Akr1d1	G	A	6: 37,534,424 (GRCm39)	V193M	probably damaging	Het
Cars1	C	T	7: 143,123,234 (GRCm39)	E461K	probably damaging	Het
Ccdc80	T	C	16: 44,943,290 (GRCm39)	L800P	probably damaging	Het
Ccl22	A	G	8: 95,473,536 (GRCm39)	Y27C	probably damaging	Het
Cdc123	G	A	2: 5,815,566 (GRCm39)		probably benign	Het
Cldn11	A	T	3: 31,217,278 (GRCm39)	I149F	probably benign	Het
Col14a1	T	C	15: 55,300,429 (GRCm39)	Y986H	unknown	Het
Col6a3	G	A	1: 90,749,605 (GRCm39)	L410F	probably damaging	Het
Crocc	T	C	4: 140,761,282 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,433,374 (GRCm39)		probably benign	Het
Cwc25	G	T	11: 97,644,744 (GRCm39)	Q205K	probably benign	Het
Cyp2e1	T	C	7: 140,350,991 (GRCm39)	I321T	possibly damaging	Het
Eps8l1	T	A	7: 4,473,797 (GRCm39)		probably null	Het
Fbxw5	T	C	2: 25,394,643 (GRCm39)		probably null	Het
Flg2	A	C	3: 93,110,828 (GRCm39)	E952A	unknown	Het
Gpd1l	A	T	9: 114,746,146 (GRCm39)	L90Q	probably damaging	Het
Grik4	G	T	9: 42,509,180 (GRCm39)	F414L	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klhl3	C	T	13: 58,166,611 (GRCm39)	G407S	probably null	Het
Lmbr1	T	C	5: 29,463,753 (GRCm39)	E157G	probably damaging	Het
Lrp2	T	A	2: 69,343,617 (GRCm39)	H914L	probably damaging	Het
Mrpl20	A	T	4: 155,892,970 (GRCm39)	D67V	probably damaging	Het
Myo15a	A	G	11: 60,378,022 (GRCm39)	T1346A	possibly damaging	Het
Naip5	A	T	13: 100,382,338 (GRCm39)	C124S	probably damaging	Het
Or10ag2	T	A	2: 87,248,801 (GRCm39)	Y134*	probably null	Het
Or13n4	T	C	7: 106,423,245 (GRCm39)	T163A	possibly damaging	Het
Or52u1	T	A	7: 104,237,830 (GRCm39)	V290D	probably damaging	Het
Osbp	A	G	19: 11,956,030 (GRCm39)	D385G	probably benign	Het
Paip1	G	A	13: 119,593,540 (GRCm39)	D460N	probably damaging	Het
Pde3b	T	C	7: 114,093,823 (GRCm39)	S356P	probably benign	Het
Pms2	A	G	5: 143,867,837 (GRCm39)	M814V	probably damaging	Het
Polg	C	A	7: 79,114,576 (GRCm39)	K128N	probably damaging	Het
Polk	G	T	13: 96,620,181 (GRCm39)	T694K	probably benign	Het
Pom121	T	C	5: 135,417,491 (GRCm39)	K342R	unknown	Het
Pou5f2	T	C	13: 78,174,024 (GRCm39)	L322P	probably damaging	Het
Prorp	G	T	12: 55,351,398 (GRCm39)	V236F	possibly damaging	Het
Ptpn6	T	C	6: 124,705,382 (GRCm39)	D183G	probably damaging	Het
Pygb	G	A	2: 150,668,391 (GRCm39)		probably null	Het
Ralgds	C	T	2: 28,442,283 (GRCm39)		probably benign	Het
Ret	T	C	6: 118,130,927 (GRCm39)	T1079A	possibly damaging	Het
Rspo2	A	C	15: 42,885,933 (GRCm39)	V241G	probably benign	Het
Smg1	T	A	7: 117,759,469 (GRCm39)		probably benign	Het
Snph	T	C	2: 151,435,722 (GRCm39)	D402G	probably damaging	Het
Spta1	A	G	1: 174,041,632 (GRCm39)	D1334G	probably benign	Het
Stard13	C	A	5: 151,016,294 (GRCm39)		probably null	Het
Sufu	A	G	19: 46,413,541 (GRCm39)	M141V	probably damaging	Het
Sytl2	T	A	7: 90,057,635 (GRCm39)	V831D	possibly damaging	Het
Tc2n	T	C	12: 101,617,414 (GRCm39)	E335G	possibly damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tmcc1	T	A	6: 116,020,441 (GRCm39)	H118L	probably damaging	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Vmn1r209	A	C	13: 22,989,785 (GRCm39)	L302V	probably null	Het
Vmn2r117	C	T	17: 23,679,080 (GRCm39)	V715I	probably benign	Het
Vopp1	A	T	6: 57,766,964 (GRCm39)	Y37*	probably null	Het
Xrn1	A	G	9: 95,863,973 (GRCm39)	T528A	probably benign	Het
Zfhx2	T	C	14: 55,302,662 (GRCm39)	D1774G	probably benign	Het
Zfp955b	T	A	17: 33,521,129 (GRCm39)	D199E	probably benign	Het
Zp2	T	C	7: 119,734,475 (GRCm39)	S525G	probably benign	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
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
R9723:Fasl	UTSW	1	161,615,535 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGGTAAGATTGAATACTGCCCC -3'
(R):5'- TGGGGAATTTGGCAAACGTG -3'

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

Posted On

2015-05-15