Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02372:Faf1'

290957

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Faf1

Ensembl Gene

ENSMUSG00000010517

Gene Name

Fas-associated factor 1

Synonyms

Dffrx, Fam

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02372

Quality Score

Status

Chromosome

Chromosomal Location

109676588-109963960 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 109935582 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 584 (F584V)

Ref Sequence

ENSEMBL: ENSMUSP00000099785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102724]

Predicted Effect

probably benign
Transcript: ENSMUST00000102724
AA Change: F584V

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099785
Gene: ENSMUSG00000010517
AA Change: F584V

Domain	Start	End	E-Value	Type
Pfam:UBA_4	8	43	2.5e-10	PFAM
low complexity region	68	82	N/A	INTRINSIC
internal_repeat_1	109	155	3.24e-5	PROSPERO
low complexity region	174	180	N/A	INTRINSIC
internal_repeat_1	204	250	3.24e-5	PROSPERO
UAS	335	480	3.79e-69	SMART
coiled coil region	496	560	N/A	INTRINSIC
UBX	565	647	2.32e-33	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS antigen and can initiate apoptosis or enhance apoptosis initiated through FAS antigen. Initiation of apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous fail to develop beyond 2-cell stage. Mice homozygous for a hypomorphic gene trap allele exhibit decreased susceptibility to dopaminergic neuron neurotoxicity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	T	11: 97,775,699	Y54N	probably damaging	Het
Alyref	A	G	11: 120,594,875		probably benign	Het
Ankrd27	A	G	7: 35,633,036		probably null	Het
Arc	A	G	15: 74,672,105	S90P	probably damaging	Het
Atp6v1e1	T	A	6: 120,801,123	K150N	probably benign	Het
Atrn	T	C	2: 131,002,754		probably benign	Het
Ccnb1	A	G	13: 100,781,316	Y259H	probably damaging	Het
Celsr1	A	G	15: 85,929,907	V1938A	probably benign	Het
Ckmt2	A	G	13: 91,865,224	V37A	probably benign	Het
Dpys	G	T	15: 39,793,271	P467T	probably benign	Het
Ehbp1l1	T	C	19: 5,710,834	T1535A	possibly damaging	Het
Eif4enif1	T	C	11: 3,229,986	L302P	probably benign	Het
Glb1l2	G	A	9: 26,796,476	R72C	probably damaging	Het
Gm9892	T	C	8: 52,196,836		noncoding transcript	Het
Hecw1	G	T	13: 14,264,121	D892E	probably damaging	Het
Hr	A	G	14: 70,558,350	E474G	possibly damaging	Het
Ltbp1	T	G	17: 75,252,406	F297V	probably damaging	Het
Myc	A	G	15: 61,987,858	N127D	probably damaging	Het
Nbn	T	A	4: 15,986,613	N671K	probably benign	Het
Nup210l	C	A	3: 90,201,971	T1607N	possibly damaging	Het
Olfr281	A	T	15: 98,456,828	T173S	probably damaging	Het
Osbpl1a	T	A	18: 12,841,313	K22*	probably null	Het
Phf20l1	T	C	15: 66,641,801	L942P	probably damaging	Het
Plekhg5	C	T	4: 152,102,080	R40W	probably damaging	Het
Pomt2	C	T	12: 87,122,835		probably benign	Het
Rab3gap1	A	G	1: 127,919,561		probably benign	Het
Sbk1	T	C	7: 126,291,058	L81P	probably damaging	Het
Scrib	G	A	15: 76,048,255	P1524S	probably damaging	Het
Smpdl3a	T	A	10: 57,807,515	N240K	probably benign	Het
Smyd4	A	T	11: 75,390,285	K195*	probably null	Het
Tulp3	A	T	6: 128,327,598	M231K	possibly damaging	Het
Zfp87	A	G	13: 67,520,620		probably benign	Het

Other mutations in Faf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Faf1	APN	4	109840381	missense	probably benign	0.10
IGL00569:Faf1	APN	4	109961880	makesense	probably null
IGL01398:Faf1	APN	4	109736596	missense	probably damaging	0.99
IGL01640:Faf1	APN	4	109840403	missense	probably damaging	1.00
IGL01739:Faf1	APN	4	109677081	splice site	probably benign
IGL02265:Faf1	APN	4	109742904	missense	probably benign	0.00
IGL02999:Faf1	APN	4	109861893	missense	probably benign	0.01
R0058:Faf1	UTSW	4	109736624	missense	probably benign	0.00
R0058:Faf1	UTSW	4	109736624	missense	probably benign	0.00
R0098:Faf1	UTSW	4	109935499	missense	probably damaging	0.99
R0098:Faf1	UTSW	4	109935499	missense	probably damaging	0.99
R0183:Faf1	UTSW	4	109935610	missense	probably benign
R0463:Faf1	UTSW	4	109890941	missense	probably benign	0.02
R0505:Faf1	UTSW	4	109840403	missense	possibly damaging	0.91
R0755:Faf1	UTSW	4	109961839	missense	probably benign	0.00
R1705:Faf1	UTSW	4	109677002	start gained	probably benign
R2061:Faf1	UTSW	4	109710808	missense	probably damaging	1.00
R2132:Faf1	UTSW	4	109710845	missense	probably damaging	1.00
R2133:Faf1	UTSW	4	109710845	missense	probably damaging	1.00
R2696:Faf1	UTSW	4	109841328	missense	possibly damaging	0.92
R3937:Faf1	UTSW	4	109757692	splice site	probably benign
R3939:Faf1	UTSW	4	109861879	missense	probably damaging	1.00
R4602:Faf1	UTSW	4	109727428	missense	probably benign
R4727:Faf1	UTSW	4	109840367	missense	probably damaging	0.96
R4860:Faf1	UTSW	4	109742896	missense	probably damaging	0.99
R4860:Faf1	UTSW	4	109742896	missense	probably damaging	0.99
R4896:Faf1	UTSW	4	109842299	missense	probably benign	0.02
R4913:Faf1	UTSW	4	109935549	missense	possibly damaging	0.96
R5688:Faf1	UTSW	4	109794813	missense	probably damaging	1.00
R5721:Faf1	UTSW	4	109935666	missense	probably benign	0.34
R5905:Faf1	UTSW	4	109890929	missense	probably benign	0.03
R6190:Faf1	UTSW	4	109861815	missense	probably damaging	0.97
R6364:Faf1	UTSW	4	109961800	missense	possibly damaging	0.46
R6454:Faf1	UTSW	4	109842334	missense	probably benign	0.27
R6805:Faf1	UTSW	4	109861852	missense	probably damaging	1.00
R7101:Faf1	UTSW	4	109925956	missense	probably benign	0.12
R7381:Faf1	UTSW	4	109861937	missense	probably damaging	0.99
R7392:Faf1	UTSW	4	109794843	missense	probably benign	0.01
R7584:Faf1	UTSW	4	109925957	missense	probably damaging	0.99
R7660:Faf1	UTSW	4	109861837	missense	probably damaging	0.98
R7678:Faf1	UTSW	4	109829864	missense	probably benign	0.00
R7715:Faf1	UTSW	4	109710814	missense	probably damaging	0.99
R7721:Faf1	UTSW	4	109736597	missense	probably damaging	1.00
R8773:Faf1	UTSW	4	109842310	missense	possibly damaging	0.81
Z1176:Faf1	UTSW	4	109840356	missense	probably damaging	1.00

Posted On

2015-04-16