Mutagenetix > Incidental Mutation

Incidental Mutation 'R7660:Faf1'

591492

Institutional Source

Beutler Lab

Gene Symbol

Faf1

Ensembl Gene

ENSMUSG00000010517

Gene Name

Fas-associated factor 1

Synonyms

Dffrx, Fam

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7660 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109676588-109963960 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109861837 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 380 (H380L)

Ref Sequence

ENSEMBL: ENSMUSP00000099785 (fasta)

Gene Model

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

AlphaFold

P54731

Predicted Effect

probably damaging
Transcript: ENSMUST00000102724
AA Change: H380L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099785
Gene: ENSMUSG00000010517
AA Change: H380L

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: 99.7%
20x: 99.3%

Validation Efficiency

100% (70/70)

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
4933427I04Rik	A	T	4: 123,860,719	H142L	possibly damaging	Het
Abca13	A	G	11: 9,290,678	E847G	probably benign	Het
Abca9	T	A	11: 110,115,452	T1276S	probably benign	Het
Abcb11	C	T	2: 69,287,594		probably null	Het
AF366264	A	T	8: 13,837,995	I32K	probably benign	Het
Alpk1	G	C	3: 127,680,967	H462Q	probably damaging	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atm	C	T	9: 53,445,507	V2815M	probably benign	Het
Braf	T	C	6: 39,623,641	I681V	possibly damaging	Het
Casc3	C	G	11: 98,809,873	R4G	unknown	Het
Crybg1	T	C	10: 43,998,835	D759G	probably damaging	Het
Csrp2	A	G	10: 110,937,763	N103S	probably benign	Het
Farp1	G	A	14: 121,276,922	A888T	probably benign	Het
Fat4	A	T	3: 38,981,160	Q2987L	probably benign	Het
Fkbp15	T	A	4: 62,314,341	T665S	probably benign	Het
Gigyf1	T	C	5: 137,520,969	S343P	probably benign	Het
Glrx3	A	G	7: 137,459,225	Y196C	probably damaging	Het
Gm3278	T	G	14: 4,893,349	L66R	probably damaging	Het
Gm8298	A	G	3: 59,865,268	I64M	probably benign	Het
Ick	G	C	9: 78,167,620	V586L	probably benign	Het
Ifi205	A	G	1: 174,028,248	V72A	probably benign	Het
Ift140	T	G	17: 25,051,824	L708R	probably damaging	Het
Ints13	A	T	6: 146,557,338	L328M	probably benign	Het
Itfg2	A	G	6: 128,424,746	I23T	probably damaging	Het
Ldha	C	T	7: 46,850,257	P100S	unknown	Het
Lmtk2	T	A	5: 144,148,340	L210H	probably damaging	Het
Lrrc4	T	A	6: 28,829,817	I600L	probably benign	Het
Map2	C	A	1: 66,414,377	P809T	probably damaging	Het
Matn2	A	G	15: 34,402,946	K439R	probably benign	Het
Matn2	T	A	15: 34,423,728	C577*	probably null	Het
Mep1a	C	T	17: 43,478,977	G494S	probably benign	Het
Mtmr4	T	C	11: 87,604,580	F488L	probably damaging	Het
Mtus1	G	T	8: 41,016,211	T8K	probably benign	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Mybpc1	T	C	10: 88,548,854	T523A	possibly damaging	Het
Ncoa3	C	T	2: 166,069,321	P1334S	probably benign	Het
Neb	T	G	2: 52,249,439	M119L		Het
Nox4	T	C	7: 87,370,022	Y408H	probably damaging	Het
Nxpe3	C	T	16: 55,844,327	R510Q	probably damaging	Het
Olfr1077-ps1	A	T	2: 86,525,830	S116T	possibly damaging	Het
Olfr1275	C	T	2: 111,231,615	M59I	probably damaging	Het
Olfr48	T	C	2: 89,844,443	T177A	probably benign	Het
Olfr484	A	G	7: 108,124,834	V143A	probably benign	Het
Olfr807	C	A	10: 129,754,563	E296*	probably null	Het
Olfr839-ps1	T	C	9: 19,175,508	H56R	probably benign	Het
Paip1	C	T	13: 119,450,770	T390I	possibly damaging	Het
Pax8	T	C	2: 24,436,561	Y263C	probably benign	Het
Pcdha11	T	A	18: 37,005,851	Y178N	probably benign	Het
Pcdhga11	C	T	18: 37,757,130	T397M	possibly damaging	Het
Pdlim5	G	T	3: 142,259,185	H428N	probably damaging	Het
Pigg	G	A	5: 108,338,619	V713I	probably benign	Het
Rgs3	A	G	4: 62,701,112	D478G	possibly damaging	Het
Scgb2b11	C	T	7: 32,210,458	E68K	probably damaging	Het
Sema4b	C	A	7: 80,220,247	Q428K	probably benign	Het
Serpine2	T	C	1: 79,802,905	T276A	probably benign	Het
Sgo2b	G	A	8: 63,940,074	H110Y	probably benign	Het
Slc12a7	T	C	13: 73,806,089	L833S	probably benign	Het
Slc6a15	T	A	10: 103,393,380		probably null	Het
Srfbp1	G	A	18: 52,475,599	V24I	probably damaging	Het
Stpg2	A	T	3: 139,701,697	N537Y	probably damaging	Het
Svep1	A	T	4: 58,087,782	S1766T	probably benign	Het
Tiam2	T	A	17: 3,482,605	M1K	probably null	Het
Tmem245	A	T	4: 56,899,170	I661K	possibly damaging	Het
Trim5	T	C	7: 104,279,362	H124R	probably damaging	Het
Trim67	T	A	8: 124,820,285	L478Q	probably damaging	Het
Triml2	A	G	8: 43,193,320	D282G	probably damaging	Het
Txndc11	T	C	16: 11,087,929	Y579C	probably damaging	Het
Ube3c	T	A	5: 29,619,631	D551E	probably damaging	Het
Vmn1r194	T	C	13: 22,244,597	V128A	not run	Het
Vmn2r70	T	G	7: 85,568,922	N56T	probably damaging	Het
Vmn2r-ps130	T	A	17: 23,077,032	D725E	probably damaging	Het
Wdr95	T	C	5: 149,594,480	V501A	possibly damaging	Het
Zc3h8	T	C	2: 128,930,822	T249A	probably damaging	Het
Zfp54	T	C	17: 21,434,239	C332R	probably damaging	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
IGL02372:Faf1	APN	4	109935582	missense	probably benign	0.17
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
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
R9004:Faf1	UTSW	4	109841353	missense	probably benign	0.01
R9028:Faf1	UTSW	4	109890908	missense	possibly damaging	0.54
R9646:Faf1	UTSW	4	109794819	missense	probably damaging	1.00
R9700:Faf1	UTSW	4	109890982	missense	possibly damaging	0.48
Z1176:Faf1	UTSW	4	109840356	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATAGTAGATGCTCTGGGAAC -3'
(R):5'- GCAAGACTGGAAAACATTCACAATG -3'

Sequencing Primer
(F):5'- GGAACCCTAAGATAAGGTGTGCTTTC -3'
(R):5'- GACTGGAAAACATTCACAATGATGAC -3'

Posted On

2019-11-12