Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00519:Faf1'

6609

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 #

IGL00519

Quality Score

Status

Chromosome

Chromosomal Location

109533873-109821157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109697578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 301 (F301L)

Ref Sequence

ENSEMBL: ENSMUSP00000099785 (fasta)

Gene Model

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

AlphaFold

P54731

Predicted Effect

probably benign
Transcript: ENSMUST00000102724
AA Change: F301L

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000099785
Gene: ENSMUSG00000010517
AA Change: F301L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155204

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	T	8: 44,022,562 (GRCm39)	N309K	probably damaging	Het
Asap1	G	A	15: 63,982,791 (GRCm39)	P846S	probably damaging	Het
Atg10	A	G	13: 91,302,330 (GRCm39)		probably benign	Het
Cdk18	C	A	1: 132,043,226 (GRCm39)	R433L	probably benign	Het
Celsr1	A	G	15: 85,915,037 (GRCm39)	Y979H	probably damaging	Het
Cracr2b	T	C	7: 141,045,670 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,377,266 (GRCm39)	F2049L	probably benign	Het
Cubn	T	C	2: 13,287,730 (GRCm39)	N3450D	probably benign	Het
Dmrt1	T	C	19: 25,580,638 (GRCm39)	L350P	probably damaging	Het
Dnah5	A	T	15: 28,444,364 (GRCm39)	D4054V	probably benign	Het
Dpp8	A	T	9: 64,985,290 (GRCm39)	T783S	probably damaging	Het
Enpp3	T	C	10: 24,663,670 (GRCm39)	T564A	probably benign	Het
Exoc6b	T	C	6: 84,966,435 (GRCm39)	K180E	probably benign	Het
Fbxo7	A	T	10: 85,864,928 (GRCm39)	E77V	probably damaging	Het
Gabpa	T	G	16: 84,657,489 (GRCm39)	*455G	probably null	Het
Hexim2	A	T	11: 103,024,905 (GRCm39)	M1L	probably benign	Het
Lrrc24	T	A	15: 76,602,263 (GRCm39)	N164I	probably damaging	Het
Lrrc8b	G	A	5: 105,629,591 (GRCm39)	A646T	possibly damaging	Het
Mansc1	T	A	6: 134,587,769 (GRCm39)	Q136L	possibly damaging	Het
Mlxip	T	A	5: 123,585,268 (GRCm39)	V592E	probably benign	Het
Ncor2	T	C	5: 125,161,988 (GRCm39)	T429A	unknown	Het
Tbcd	A	G	11: 121,466,147 (GRCm39)	N591S	probably damaging	Het
Tenm4	T	C	7: 96,454,345 (GRCm39)		probably benign	Het
Uri1	A	G	7: 37,660,978 (GRCm39)	S522P	probably damaging	Het
Ush2a	C	T	1: 188,176,865 (GRCm39)	S1343L	probably benign	Het

Other mutations in Faf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Faf1	APN	4	109,819,077 (GRCm39)	makesense	probably null
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