Mutagenetix > Incidental Mutation

Incidental Mutation 'R0755:Faf1'

70397

Institutional Source

Beutler Lab

Gene Symbol

Faf1

Ensembl Gene

ENSMUSG00000010517

Gene Name

Fas-associated factor 1

Synonyms

Dffrx, Fam

MMRRC Submission

038935-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0755 (G1)

Quality Score

175

Status

Not validated

Chromosome

Chromosomal Location

109533873-109821157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109819036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 636 (N636S)

Ref Sequence

ENSEMBL: ENSMUSP00000099785 (fasta)

Gene Model

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

AlphaFold

P54731

Predicted Effect

probably benign
Transcript: ENSMUST00000102724
AA Change: N636S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099785
Gene: ENSMUSG00000010517
AA Change: N636S

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 93.8%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	A	T	14: 55,797,638 (GRCm39)		probably benign	Het
Acin1	A	G	14: 54,889,292 (GRCm39)	M1T	probably null	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Aldh1a1	A	G	19: 20,595,358 (GRCm39)	M96V	probably benign	Het
Ankfn1	T	A	11: 89,282,913 (GRCm39)	M245L	probably benign	Het
Arhgap19	T	C	19: 41,769,614 (GRCm39)	K54E	probably damaging	Het
Atp1a2	T	C	1: 172,116,948 (GRCm39)	Q223R	probably benign	Het
Atp8a2	C	T	14: 60,247,330 (GRCm39)	V557I	possibly damaging	Het
AU041133	A	T	10: 81,986,724 (GRCm39)	K126*	probably null	Het
Axin1	T	A	17: 26,401,480 (GRCm39)	Y351N	possibly damaging	Het
Baiap2l1	T	C	5: 144,221,367 (GRCm39)	K176E	probably damaging	Het
Baz2a	C	T	10: 127,955,560 (GRCm39)	T848I	possibly damaging	Het
Bbs2	A	C	8: 94,808,708 (GRCm39)	V333G	probably benign	Het
BC051019	G	A	7: 109,315,302 (GRCm39)	Q318*	probably null	Het
Bltp1	T	C	3: 37,000,513 (GRCm39)	S1231P	probably damaging	Het
Cdc37	C	T	9: 21,051,160 (GRCm39)	D362N	probably damaging	Het
Cep170	A	T	1: 176,583,319 (GRCm39)	V1020E	probably damaging	Het
Chrm4	T	C	2: 91,758,747 (GRCm39)	V385A	probably benign	Het
Cntrl	G	A	2: 35,035,151 (GRCm39)	S373N	probably damaging	Het
Col23a1	G	A	11: 51,467,706 (GRCm39)	G19D	probably damaging	Het
Cyb5r4	G	T	9: 86,911,625 (GRCm39)	A100S	probably damaging	Het
Dctn1	C	T	6: 83,166,059 (GRCm39)	P115S	probably damaging	Het
Dhrs2	C	T	14: 55,472,247 (GRCm39)	T46M	probably damaging	Het
Disp2	T	C	2: 118,620,243 (GRCm39)	F325S	probably benign	Het
Dnah11	T	G	12: 117,918,564 (GRCm39)	T3456P	possibly damaging	Het
Dnah11	C	A	12: 118,162,360 (GRCm39)	V70F	probably benign	Het
Duoxa1	T	A	2: 122,135,161 (GRCm39)	T195S	probably benign	Het
Dync2i1	T	C	12: 116,175,412 (GRCm39)	I922V	probably benign	Het
Eif2ak1	T	A	5: 143,821,742 (GRCm39)	F353I	possibly damaging	Het
Esam	A	G	9: 37,447,998 (GRCm39)	T211A	probably damaging	Het
Fbxo25	A	G	8: 13,985,219 (GRCm39)	Y305C	probably benign	Het
Fchsd1	C	T	18: 38,101,803 (GRCm39)		probably null	Het
Fdxacb1	T	A	9: 50,683,025 (GRCm39)	D329E	possibly damaging	Het
Gvin2	A	T	7: 105,545,892 (GRCm39)	F2387I	possibly damaging	Het
Hbq1b	A	T	11: 32,237,104 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,343,172 (GRCm39)	V4566E	probably damaging	Het
Igkv6-29	G	A	6: 70,116,053 (GRCm39)	T5I	probably benign	Het
Itfg1	A	T	8: 86,452,834 (GRCm39)	D511E	possibly damaging	Het
Jmjd1c	C	T	10: 66,932,378 (GRCm39)		probably benign	Het
Kat6b	T	A	14: 21,687,661 (GRCm39)	M570K	probably damaging	Het
Kdm4d	T	A	9: 14,375,591 (GRCm39)	K89M	probably damaging	Het
Krt19	A	T	11: 100,032,965 (GRCm39)	D194E	possibly damaging	Het
Lamc1	A	T	1: 153,123,196 (GRCm39)	Y665N	possibly damaging	Het
Lct	A	T	1: 128,221,872 (GRCm39)	S1556T	possibly damaging	Het
Macf1	A	G	4: 123,263,719 (GRCm39)	L4924P	probably damaging	Het
Mef2c	G	A	13: 83,804,472 (GRCm39)		probably null	Het
Mff	G	A	1: 82,728,326 (GRCm39)		probably null	Het
Mycbp2	A	T	14: 103,412,230 (GRCm39)	L2581Q	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Nos3	T	A	5: 24,572,295 (GRCm39)	L123M	probably damaging	Het
Ntn5	C	T	7: 45,335,952 (GRCm39)	P128S	probably benign	Het
Nudt9	T	C	5: 104,212,920 (GRCm39)	V331A	probably damaging	Het
Or2y3	A	T	17: 38,393,085 (GRCm39)	Y261*	probably null	Het
Or7g34	T	C	9: 19,478,415 (GRCm39)	I88M	possibly damaging	Het
Pcdh7	A	T	5: 57,877,664 (GRCm39)	K406N	possibly damaging	Het
Pkdrej	T	A	15: 85,700,336 (GRCm39)	I1867L	probably benign	Het
Plppr4	C	T	3: 117,116,319 (GRCm39)	G455R	possibly damaging	Het
Pramel11	A	G	4: 143,624,299 (GRCm39)	V66A	probably damaging	Het
Prkag2	G	C	5: 25,152,629 (GRCm39)	S158R	probably benign	Het
Ptprq	T	G	10: 107,418,400 (GRCm39)	T1659P	probably benign	Het
Rasl12	A	G	9: 65,318,241 (GRCm39)	K202E	probably benign	Het
Rb1	A	C	14: 73,434,653 (GRCm39)	*922G	probably null	Het
Rsf1	C	T	7: 97,229,174 (GRCm39)	P22S	probably damaging	Het
Scn1a	T	G	2: 66,151,379 (GRCm39)	T797P	probably damaging	Het
Sgsm2	A	G	11: 74,756,323 (GRCm39)	V342A	probably damaging	Het
Slc22a7	T	G	17: 46,749,113 (GRCm39)	H68P	possibly damaging	Het
Slc4a2	G	A	5: 24,640,575 (GRCm39)	A652T	probably benign	Het
Slc5a1	T	A	5: 33,290,733 (GRCm39)	L106M	probably benign	Het
Slco1c1	C	T	6: 141,477,258 (GRCm39)	P19S	probably damaging	Het
Snx1	A	G	9: 66,005,738 (GRCm39)	F127S	probably damaging	Het
Snx31	A	T	15: 36,534,576 (GRCm39)	I199N	probably damaging	Het
Snx33	T	C	9: 56,832,741 (GRCm39)	I443V	possibly damaging	Het
Sptbn1	A	G	11: 30,089,016 (GRCm39)	F749L	probably damaging	Het
Stoml3	T	A	3: 53,405,559 (GRCm39)	Y53*	probably null	Het
Stxbp2	A	G	8: 3,692,019 (GRCm39)	T554A	probably benign	Het
Tal1	T	C	4: 114,925,573 (GRCm39)	I214T	probably damaging	Het
Tas2r140	T	A	6: 40,468,344 (GRCm39)	I58N	probably damaging	Het
Thap1	A	G	8: 26,648,501 (GRCm39)	Y8C	probably damaging	Het
Thsd7a	A	T	6: 12,555,368 (GRCm39)	L172Q	probably damaging	Het
Ube3c	T	A	5: 29,842,740 (GRCm39)	D735E	probably damaging	Het
Unc80	G	A	1: 66,544,082 (GRCm39)	D402N	probably damaging	Het
Upf1	G	T	8: 70,786,779 (GRCm39)	R902S	probably benign	Het
Urb1	A	G	16: 90,570,982 (GRCm39)	Y1276H	probably damaging	Het
Urb1	A	T	16: 90,576,026 (GRCm39)	F843L	probably benign	Het
Vmn1r198	C	T	13: 22,539,402 (GRCm39)	T296I	probably benign	Het
Vmn1r33	A	T	6: 66,588,892 (GRCm39)	S221T	probably damaging	Het
Vmn2r103	A	G	17: 19,993,830 (GRCm39)	D69G	probably benign	Het
Vmn2r14	T	G	5: 109,364,226 (GRCm39)	L563F	possibly damaging	Het
Vmn2r60	G	A	7: 41,844,869 (GRCm39)	G744D	probably damaging	Het
Vstm4	T	C	14: 32,614,601 (GRCm39)	V181A	probably damaging	Het
Wdr72	G	A	9: 74,052,376 (GRCm39)	V136I	probably benign	Het
Zfp236	T	A	18: 82,638,457 (GRCm39)	N1388Y	probably damaging	Het
Zfp53	T	A	17: 21,728,839 (GRCm39)	F291I	probably damaging	Het
Zfp944	A	T	17: 22,558,889 (GRCm39)	H119Q	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
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

Predicted Primers

PCR Primer
(F):5'- TACAAGACCTCTCCAGGAAGTGGC -3'
(R):5'- TGACATTGAACTGAGTGACACGAGC -3'

Sequencing Primer
(F):5'- TGCAGAATGACCTTTCTGAGAGC -3'
(R):5'- CTGAGTGACACGAGCAGGTAG -3'

Posted On

2013-09-30