Mutagenetix > Incidental Mutations

Incidental Mutation 'R5973:Faim2'

471568

Institutional Source

Beutler Lab

Gene Symbol

Faim2

Ensembl Gene

ENSMUSG00000023011

Gene Name

Fas apoptotic inhibitory molecule 2

Synonyms

lifeguard, NMP25, Tmbim2, Lfg, 2900002L20Rik

MMRRC Submission

044156-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R5973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99497012-99528165 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99521251 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 79 (G79D)

Ref Sequence

ENSEMBL: ENSMUSP00000023750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023750] [ENSMUST00000231171]

Predicted Effect

probably benign
Transcript: ENSMUST00000023750
AA Change: G79D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023750
Gene: ENSMUSG00000023011
AA Change: G79D

Domain	Start	End	E-Value	Type
Pfam:Bax1-I	101	312	1.6e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230837

Predicted Effect

probably benign
Transcript: ENSMUST00000231171

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: A mutation in this gene results in kidney abnormalities including enlargement and dilation. A reduced seizure threshold in response to pharmacological agents is also observed. [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
Acacb	T	A	5: 114,226,867	I1536N	probably damaging	Het
Actr1b	A	G	1: 36,702,081	S140P	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Anapc7	A	T	5: 122,428,303	T92S	probably benign	Het
Ash2l	G	A	8: 25,817,614	T585M	possibly damaging	Het
Asxl1	T	C	2: 153,402,011	F1495L	probably damaging	Het
Atp5j	T	C	16: 84,828,440		probably null	Het
Bcl2a1c	A	G	9: 114,330,397	N81S	probably benign	Het
Bfsp2	A	C	9: 103,432,657		probably null	Het
Casq1	A	G	1: 172,219,501	Y64H	probably damaging	Het
Ceacam16	A	G	7: 19,856,337	V227A	probably damaging	Het
Cers6	T	A	2: 69,068,625		probably null	Het
Chrnb1	A	G	11: 69,795,845		probably benign	Het
Clpb	G	A	7: 101,663,997	V63I	probably benign	Het
Dnah11	G	T	12: 118,110,952	D1388E	probably benign	Het
Dst	T	C	1: 34,156,857	L405P	probably damaging	Het
Dstyk	A	G	1: 132,434,411	E193G	probably damaging	Het
Dusp2	A	T	2: 127,337,288	S188C	probably damaging	Het
Ep400	T	C	5: 110,729,831	I810V	unknown	Het
Fpgt	A	T	3: 155,087,403	I329K	probably damaging	Het
Fut8	A	G	12: 77,364,997	T78A	probably benign	Het
Gm10436	T	C	12: 88,175,913	I312V	probably benign	Het
Gm14124	A	G	2: 150,267,935	T182A	unknown	Het
Gm15130	A	G	2: 111,135,369		probably benign	Het
Gm17087	A	C	17: 8,566,697	I58R	probably benign	Het
Gm5724	T	A	6: 141,754,456	T117S	probably benign	Het
Grk2	T	C	19: 4,287,897	D485G	possibly damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Hmcn1	A	G	1: 150,563,817	S5539P	probably damaging	Het
Hmcn2	G	A	2: 31,420,323	V3310M	probably damaging	Het
Impdh1	A	T	6: 29,207,162	L61Q	probably damaging	Het
Inhbb	A	T	1: 119,418,076	V161D	possibly damaging	Het
Kansl2	C	T	15: 98,529,425	V192M	probably damaging	Het
Krt2	T	C	15: 101,816,312	K288E	probably damaging	Het
Lyar	A	G	5: 38,227,946	K110R	probably damaging	Het
Lyrm9	C	A	11: 78,836,135	H35N	probably damaging	Het
Mab21l1	A	G	3: 55,783,112	D40G	probably benign	Het
Maml2	A	C	9: 13,621,619		probably benign	Het
Mbd5	A	G	2: 49,272,389	H69R	probably benign	Het
Morc2b	G	T	17: 33,137,472	A442E	probably damaging	Het
Moxd2	A	T	6: 40,878,810	L615Q	probably damaging	Het
Msh2	G	A	17: 87,708,583	G548S	probably damaging	Het
Napg	G	A	18: 62,994,983	S279N	possibly damaging	Het
Ncor1	A	T	11: 62,349,310		probably null	Het
Nkiras2	G	T	11: 100,626,040	R128L	probably damaging	Het
Npy4r	T	C	14: 34,146,707	D208G	probably benign	Het
Olfr1333	C	T	4: 118,830,216	V75I	probably benign	Het
Olfr589	A	G	7: 103,154,874	V291A	possibly damaging	Het
Olfr901	G	T	9: 38,430,331	L16F	probably damaging	Het
Pcdhgb2	A	G	18: 37,690,507	T184A	probably benign	Het
Plxna4	T	C	6: 32,251,065		probably null	Het
Pnldc1	C	T	17: 12,894,373	E328K	probably benign	Het
Pon1	T	A	6: 5,185,334	L55F	probably damaging	Het
Prkci	G	T	3: 31,038,456	D296Y	probably damaging	Het
Prkd1	T	C	12: 50,388,255	H563R	probably damaging	Het
Ptpru	T	C	4: 131,818,925	N266S	probably benign	Het
Rapgef6	A	T	11: 54,639,783	I589F	probably damaging	Het
Rcan3	A	T	4: 135,418,542	S127T	probably benign	Het
Sh3tc2	A	G	18: 61,977,904	D277G	probably benign	Het
Sipa1l3	G	A	7: 29,399,524	A440V	probably benign	Het
Slc13a2	A	C	11: 78,400,532	I372S	probably damaging	Het
Spns1	A	T	7: 126,370,323	I528N	probably damaging	Het
Sult6b2	T	C	6: 142,790,295	K191R	probably benign	Het
Swt1	A	G	1: 151,402,949		probably null	Het
Tcn2	A	T	11: 3,927,546	L34*	probably null	Het
Tmem131l	C	T	3: 83,922,246	A1035T	possibly damaging	Het
Trpc4	A	G	3: 54,315,842	E733G	probably damaging	Het
Uap1l1	A	T	2: 25,364,630	H184Q	possibly damaging	Het
Vil1	T	G	1: 74,416,033	V48G	possibly damaging	Het
Vps39	A	T	2: 120,328,705	H367Q	probably damaging	Het
Wars2	A	G	3: 99,187,646	T86A	probably benign	Het
Wdr90	A	G	17: 25,845,133	S1872P	probably damaging	Het
Wdr90	A	G	17: 25,846,407	L1625P	probably damaging	Het
Xaf1	A	T	11: 72,303,430	M46L	probably damaging	Het

Other mutations in Faim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01906:Faim2	APN	15	99514433	missense	probably damaging	1.00
IGL02820:Faim2	APN	15	99521257	missense	probably benign	0.02
IGL02989:Faim2	APN	15	99520362	splice site	probably benign
R0827:Faim2	UTSW	15	99524736	missense	probably benign
R1171:Faim2	UTSW	15	99500254	missense	probably benign	0.05
R1678:Faim2	UTSW	15	99520336	missense	possibly damaging	0.92
R1785:Faim2	UTSW	15	99512542	missense	probably damaging	1.00
R2004:Faim2	UTSW	15	99500246	missense	possibly damaging	0.87
R2063:Faim2	UTSW	15	99514433	missense	probably damaging	1.00
R3401:Faim2	UTSW	15	99520348	missense	probably damaging	0.98
R4242:Faim2	UTSW	15	99500201	missense	probably damaging	1.00
R4664:Faim2	UTSW	15	99524700	critical splice donor site	probably null
R4664:Faim2	UTSW	15	99524701	missense	probably benign
R4665:Faim2	UTSW	15	99524700	critical splice donor site	probably null
R4665:Faim2	UTSW	15	99524701	missense	probably benign
R4719:Faim2	UTSW	15	99527579	critical splice donor site	probably null
R4952:Faim2	UTSW	15	99521228	missense	possibly damaging	0.51
R7162:Faim2	UTSW	15	99521167	critical splice donor site	probably null
R7305:Faim2	UTSW	15	99513933	missense	probably damaging	0.99
R7601:Faim2	UTSW	15	99500266	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAAGCCCTCTGCAAGCAG -3'
(R):5'- AGCCCCAACCATTGTGGAG -3'

Sequencing Primer
(F):5'- GGGAGAAGTGGTTACCTTTC -3'
(R):5'- GCTCATTCCTAGAATCAGAGAGAGC -3'

Posted On

2017-03-31