Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00569:Faf1'

6608

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00569

Quality Score

Status

Chromosome

Chromosomal Location

109533873-109821157 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 109819077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 650 (*650Q)

Ref Sequence

ENSEMBL: ENSMUSP00000099785 (fasta)

Gene Model

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

AlphaFold

P54731

Predicted Effect

probably null
Transcript: ENSMUST00000102724
AA Change: *650Q

SMART Domains

Protein: ENSMUSP00000099785
Gene: ENSMUSG00000010517
AA Change: *650Q

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	G	11: 110,077,875 (GRCm39)	N1311H	possibly damaging	Het
Adrm1b	T	C	3: 92,335,707 (GRCm39)	T332A	probably benign	Het
Apol8	C	T	15: 77,634,255 (GRCm39)	R107H	probably benign	Het
Cacna1a	T	A	8: 85,189,343 (GRCm39)	I98N	probably damaging	Het
Clps	T	A	17: 28,779,636 (GRCm39)		probably benign	Het
Dcc	T	A	18: 71,517,296 (GRCm39)		probably null	Het
Dock10	A	G	1: 80,562,729 (GRCm39)	F544L	probably damaging	Het
Eif2ak2	A	T	17: 79,176,912 (GRCm39)	S218T	probably benign	Het
Fxn	A	T	19: 24,244,714 (GRCm39)	I142N	probably damaging	Het
Gm10610	A	T	7: 83,198,778 (GRCm39)		noncoding transcript	Het
Hspa1l	C	T	17: 35,196,441 (GRCm39)	T160I	probably damaging	Het
Kcng4	A	G	8: 120,353,070 (GRCm39)	V280A	probably benign	Het
Khsrp	T	C	17: 57,330,092 (GRCm39)	T646A	possibly damaging	Het
Lilra6	A	G	7: 3,917,588 (GRCm39)	S136P	probably damaging	Het
Lmo7	T	G	14: 102,124,487 (GRCm39)	N315K	probably damaging	Het
Map3k5	A	G	10: 19,810,790 (GRCm39)	T147A	possibly damaging	Het
Mical3	T	C	6: 120,938,585 (GRCm39)	E1134G	possibly damaging	Het
Nek3	A	G	8: 22,648,722 (GRCm39)	L103P	probably damaging	Het
Nudt17	G	T	3: 96,614,343 (GRCm39)	P222Q	probably damaging	Het
Pla2r1	G	T	2: 60,250,769 (GRCm39)	T1386K	probably benign	Het
Ptpn13	A	G	5: 103,738,872 (GRCm39)		probably benign	Het
Rgl1	A	C	1: 152,447,368 (GRCm39)	S134A	probably benign	Het
Rnls	T	A	19: 33,145,888 (GRCm39)	E195V	probably benign	Het
Sall4	T	C	2: 168,597,232 (GRCm39)	N536S	probably benign	Het
Serinc3	G	T	2: 163,469,921 (GRCm39)	P309Q	probably damaging	Het
Smc5	G	A	19: 23,213,329 (GRCm39)	R528C	probably damaging	Het
Stxbp3-ps	A	T	19: 9,535,186 (GRCm39)		noncoding transcript	Het
Tmem67	T	A	4: 12,061,826 (GRCm39)	I549L	probably damaging	Het
Trank1	C	A	9: 111,174,579 (GRCm39)	H269N	possibly damaging	Het
Wdr87-ps	A	T	7: 29,233,565 (GRCm39)		noncoding transcript	Het

Other mutations in Faf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Faf1	APN	4	109,697,578 (GRCm39)	missense	probably benign	0.10
IGL01398:Faf1	APN	4	109,593,793 (GRCm39)	missense	probably damaging	0.99
IGL01640:Faf1	APN	4	109,697,600 (GRCm39)	missense	probably damaging	1.00
IGL01739:Faf1	APN	4	109,534,278 (GRCm39)	splice site	probably benign
IGL02265:Faf1	APN	4	109,600,101 (GRCm39)	missense	probably benign	0.00
IGL02372:Faf1	APN	4	109,792,779 (GRCm39)	missense	probably benign	0.17
IGL02999:Faf1	APN	4	109,719,090 (GRCm39)	missense	probably benign	0.01
R0058:Faf1	UTSW	4	109,593,821 (GRCm39)	missense	probably benign	0.00
R0058:Faf1	UTSW	4	109,593,821 (GRCm39)	missense	probably benign	0.00
R0098:Faf1	UTSW	4	109,792,696 (GRCm39)	missense	probably damaging	0.99
R0098:Faf1	UTSW	4	109,792,696 (GRCm39)	missense	probably damaging	0.99
R0183:Faf1	UTSW	4	109,792,807 (GRCm39)	missense	probably benign
R0463:Faf1	UTSW	4	109,748,138 (GRCm39)	missense	probably benign	0.02
R0505:Faf1	UTSW	4	109,697,600 (GRCm39)	missense	possibly damaging	0.91
R0755:Faf1	UTSW	4	109,819,036 (GRCm39)	missense	probably benign	0.00
R1705:Faf1	UTSW	4	109,534,199 (GRCm39)	start gained	probably benign
R2061:Faf1	UTSW	4	109,568,005 (GRCm39)	missense	probably damaging	1.00
R2132:Faf1	UTSW	4	109,568,042 (GRCm39)	missense	probably damaging	1.00
R2133:Faf1	UTSW	4	109,568,042 (GRCm39)	missense	probably damaging	1.00
R2696:Faf1	UTSW	4	109,698,525 (GRCm39)	missense	possibly damaging	0.92
R3937:Faf1	UTSW	4	109,614,889 (GRCm39)	splice site	probably benign
R3939:Faf1	UTSW	4	109,719,076 (GRCm39)	missense	probably damaging	1.00
R4602:Faf1	UTSW	4	109,584,625 (GRCm39)	missense	probably benign
R4727:Faf1	UTSW	4	109,697,564 (GRCm39)	missense	probably damaging	0.96
R4860:Faf1	UTSW	4	109,600,093 (GRCm39)	missense	probably damaging	0.99
R4860:Faf1	UTSW	4	109,600,093 (GRCm39)	missense	probably damaging	0.99
R4896:Faf1	UTSW	4	109,699,496 (GRCm39)	missense	probably benign	0.02
R4913:Faf1	UTSW	4	109,792,746 (GRCm39)	missense	possibly damaging	0.96
R5688:Faf1	UTSW	4	109,652,010 (GRCm39)	missense	probably damaging	1.00
R5721:Faf1	UTSW	4	109,792,863 (GRCm39)	missense	probably benign	0.34
R5905:Faf1	UTSW	4	109,748,126 (GRCm39)	missense	probably benign	0.03
R6190:Faf1	UTSW	4	109,719,012 (GRCm39)	missense	probably damaging	0.97
R6364:Faf1	UTSW	4	109,818,997 (GRCm39)	missense	possibly damaging	0.46
R6454:Faf1	UTSW	4	109,699,531 (GRCm39)	missense	probably benign	0.27
R6805:Faf1	UTSW	4	109,719,049 (GRCm39)	missense	probably damaging	1.00
R7101:Faf1	UTSW	4	109,783,153 (GRCm39)	missense	probably benign	0.12
R7381:Faf1	UTSW	4	109,719,134 (GRCm39)	missense	probably damaging	0.99
R7392:Faf1	UTSW	4	109,652,040 (GRCm39)	missense	probably benign	0.01
R7584:Faf1	UTSW	4	109,783,154 (GRCm39)	missense	probably damaging	0.99
R7660:Faf1	UTSW	4	109,719,034 (GRCm39)	missense	probably damaging	0.98
R7678:Faf1	UTSW	4	109,687,061 (GRCm39)	missense	probably benign	0.00
R7715:Faf1	UTSW	4	109,568,011 (GRCm39)	missense	probably damaging	0.99
R7721:Faf1	UTSW	4	109,593,794 (GRCm39)	missense	probably damaging	1.00
R8773:Faf1	UTSW	4	109,699,507 (GRCm39)	missense	possibly damaging	0.81
R9004:Faf1	UTSW	4	109,698,550 (GRCm39)	missense	probably benign	0.01
R9028:Faf1	UTSW	4	109,748,105 (GRCm39)	missense	possibly damaging	0.54
R9646:Faf1	UTSW	4	109,652,016 (GRCm39)	missense	probably damaging	1.00
R9700:Faf1	UTSW	4	109,748,179 (GRCm39)	missense	possibly damaging	0.48
Z1176:Faf1	UTSW	4	109,697,553 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20