Mutagenetix > Incidental Mutation

Incidental Mutation 'R7584:Faf1'

586954

Institutional Source

Beutler Lab

Gene Symbol

Faf1

Ensembl Gene

ENSMUSG00000010517

Gene Name

Fas-associated factor 1

Synonyms

Dffrx, Fam

MMRRC Submission

045667-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7584 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109533873-109821157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 109783154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 549 (R549C)

Ref Sequence

ENSEMBL: ENSMUSP00000099785 (fasta)

Gene Model

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

AlphaFold

P54731

Predicted Effect

probably damaging
Transcript: ENSMUST00000102724
AA Change: R549C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099785
Gene: ENSMUSG00000010517
AA Change: R549C

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,626,304 (GRCm39)		probably null	Het
Actrt3	T	C	3: 30,652,356 (GRCm39)	K246R	probably benign	Het
Adam23	T	A	1: 63,584,621 (GRCm39)	V343D	probably damaging	Het
Ak2	T	C	4: 128,893,005 (GRCm39)	S55P	probably damaging	Het
Ank2	G	A	3: 126,739,777 (GRCm39)	Q2036*	probably null	Het
Ano10	A	G	9: 122,104,597 (GRCm39)	I40T	probably benign	Het
Aoc2	T	A	11: 101,217,005 (GRCm39)	C363S	possibly damaging	Het
Aplp2	A	T	9: 31,069,077 (GRCm39)	V584E	possibly damaging	Het
Arhgap32	A	T	9: 32,168,263 (GRCm39)	T749S	probably benign	Het
Atm	A	T	9: 53,424,427 (GRCm39)	F625I	probably damaging	Het
Atr	T	C	9: 95,824,766 (GRCm39)	L2387P	probably damaging	Het
Barhl1	C	T	2: 28,799,803 (GRCm39)	G274D	probably damaging	Het
Bcl2a1a	A	T	9: 88,839,345 (GRCm39)	D81V	probably damaging	Het
Ccdc63	T	G	5: 122,251,267 (GRCm39)	D381A	possibly damaging	Het
Col12a1	A	G	9: 79,610,578 (GRCm39)		probably null	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cyp4b1	T	A	4: 115,485,884 (GRCm39)	D351V	probably damaging	Het
D130043K22Rik	A	G	13: 25,056,353 (GRCm39)	S562G	probably damaging	Het
Dgkb	T	A	12: 38,189,391 (GRCm39)		probably null	Het
Dmbt1	C	T	7: 130,690,481 (GRCm39)	Q905*	probably null	Het
Dnajc21	A	C	15: 10,462,381 (GRCm39)	Y81*	probably null	Het
Dnali1	T	C	4: 124,959,331 (GRCm39)	T21A	probably benign	Het
Dpp8	A	T	9: 64,986,064 (GRCm39)	L851F	probably damaging	Het
Dpt	T	C	1: 164,646,477 (GRCm39)	Y149H	probably benign	Het
Ep300	T	C	15: 81,512,627 (GRCm39)	V983A	unknown	Het
Gcm1	A	G	9: 77,971,749 (GRCm39)	N230S	possibly damaging	Het
Gm10803	T	A	2: 93,394,513 (GRCm39)	I95N	probably damaging	Het
Hectd4	T	A	5: 121,456,798 (GRCm39)	I721N	possibly damaging	Het
Hsp90ab1	T	C	17: 45,881,197 (GRCm39)	H315R	probably damaging	Het
Igkv10-95	T	A	6: 68,657,740 (GRCm39)	S85R	possibly damaging	Het
Katnip	G	T	7: 125,469,838 (GRCm39)	V1436L	probably damaging	Het
Kcnq5	T	C	1: 21,472,545 (GRCm39)	T901A	probably benign	Het
Kremen1	C	T	11: 5,144,964 (GRCm39)	V471M	possibly damaging	Het
Lama2	C	A	10: 26,980,257 (GRCm39)	D1853Y	possibly damaging	Het
Lrif1	A	G	3: 106,639,217 (GRCm39)	T76A	probably benign	Het
Lrrtm2	T	A	18: 35,345,818 (GRCm39)	I495F	possibly damaging	Het
Ltbr	G	T	6: 125,284,204 (GRCm39)	Q413K	probably benign	Het
Ms4a20	A	G	19: 11,087,725 (GRCm39)	F69L	possibly damaging	Het
Myrfl	T	A	10: 116,664,902 (GRCm39)	Y376F	probably damaging	Het
Nup50l	A	C	6: 96,142,373 (GRCm39)	L224V	probably benign	Het
Nup98	G	T	7: 101,825,596 (GRCm39)	N414K	probably benign	Het
Nynrin	A	G	14: 56,109,041 (GRCm39)	T1383A	probably damaging	Het
Or4c15	G	A	2: 88,760,149 (GRCm39)	P170L	probably damaging	Het
Or5j1	A	T	2: 86,879,478 (GRCm39)	I34N	probably benign	Het
Or6c208	T	A	10: 129,223,901 (GRCm39)	I133N	probably damaging	Het
Or7g27	C	A	9: 19,250,569 (GRCm39)	T271K	possibly damaging	Het
Or8b1d	G	T	9: 38,558,191 (GRCm39)	P210T	possibly damaging	Het
Pcdhb5	T	A	18: 37,455,425 (GRCm39)	S602T	possibly damaging	Het
Sall3	A	G	18: 81,017,745 (GRCm39)	F61S	probably benign	Het
Scube1	G	T	15: 83,606,088 (GRCm39)	C61*	probably null	Het
Sec31b	T	C	19: 44,519,995 (GRCm39)		probably null	Het
Sec31b	T	C	19: 44,531,762 (GRCm39)	D49G	probably damaging	Het
Skic2	A	G	17: 35,060,651 (GRCm39)	I822T	possibly damaging	Het
Slc19a3	C	T	1: 83,000,469 (GRCm39)	V183M	possibly damaging	Het
Slc41a2	T	C	10: 83,152,653 (GRCm39)		probably benign	Het
Sphk2	C	A	7: 45,361,931 (GRCm39)	V169L	probably damaging	Het
Synpo	C	A	18: 60,729,349 (GRCm39)	R951L	probably damaging	Het
Tbc1d9b	G	A	11: 50,061,543 (GRCm39)	C1017Y	probably damaging	Het
Tmtc4	C	A	14: 123,215,563 (GRCm39)	V28F	probably benign	Het
Tprkb	A	G	6: 85,905,809 (GRCm39)	I165V	probably benign	Het
Ttc23l	T	A	15: 10,533,794 (GRCm39)	I250F	probably damaging	Het
Tut4	T	C	4: 108,336,543 (GRCm39)	V89A	probably benign	Het
Ubr3	G	A	2: 69,821,847 (GRCm39)	V1370I	probably damaging	Het
Ush2a	A	G	1: 188,460,306 (GRCm39)		probably null	Het
Usp9y	T	C	Y: 1,384,451 (GRCm39)	Y689C	probably damaging	Het
Vmn1r56	A	T	7: 5,198,895 (GRCm39)	Y241N	probably damaging	Het
Vmn2r6	T	C	3: 64,472,683 (GRCm39)	T13A	probably benign	Het
Vmn2r92	T	A	17: 18,387,028 (GRCm39)	N122K	probably benign	Het
Vps9d1	A	G	8: 123,977,456 (GRCm39)	F131S	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wfdc16	A	T	2: 164,480,547 (GRCm39)		probably null	Het
Zbtb41	T	A	1: 139,351,795 (GRCm39)	Y303N	probably benign	Het
Zbtb5	T	C	4: 44,993,678 (GRCm39)	T569A	probably benign	Het
Zfp111	A	G	7: 23,898,025 (GRCm39)	S530P	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTCCTGATAGCAGAATTCAGTACTC -3'
(R):5'- GAATGATGGGAAGTGCCTATTTAAG -3'

Sequencing Primer
(F):5'- GCCTATATGAGCTTGATTCC -3'
(R):5'- TAATACCAACATGAGCCCAG -3'

Posted On

2019-10-24