Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02820:Faim2'

360974

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Faim2

Ensembl Gene

ENSMUSG00000023011

Gene Name

Fas apoptotic inhibitory molecule 2

Synonyms

lifeguard, NMP25, Tmbim2, Lfg, 2900002L20Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

IGL02820

Quality Score

Status

Chromosome

Chromosomal Location

99497012-99528165 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99521257 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 77 (Y77C)

Ref Sequence

ENSEMBL: ENSMUSP00000023750 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023750
AA Change: Y77C

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000023750
Gene: ENSMUSG00000023011
AA Change: Y77C

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	T	C	12: 24,074,416	Y86C	probably benign	Het
Adgra2	G	A	8: 27,117,507	V47M	probably damaging	Het
Anks1b	T	C	10: 90,077,059	C349R	possibly damaging	Het
Anks4b	A	T	7: 120,182,691		probably benign	Het
Apobec2	A	G	17: 48,423,267	S124P	probably damaging	Het
Brd8	G	A	18: 34,607,301	S493L	probably benign	Het
Cbln3	A	G	14: 55,883,487	Y126H	probably damaging	Het
Ccdc138	T	C	10: 58,528,899		probably benign	Het
Cckbr	C	T	7: 105,434,031	A147V	probably damaging	Het
Ceacam2	T	A	7: 25,519,986	H283L	probably damaging	Het
Clasp1	A	G	1: 118,551,104	D718G	possibly damaging	Het
Clmn	A	T	12: 104,773,234	Y979N	probably damaging	Het
Ddias	T	C	7: 92,859,343	T455A	probably benign	Het
Dennd5b	T	C	6: 149,019,342	R851G	probably null	Het
Dock1	T	C	7: 135,167,215	V1771A	probably benign	Het
Dysf	T	A	6: 84,100,205	L694Q	probably damaging	Het
Fbxw22	A	T	9: 109,386,664	I172N	probably damaging	Het
Fhad1	C	T	4: 141,918,758	D298N	probably benign	Het
Fyb	T	G	15: 6,658,559	V800G	possibly damaging	Het
Gcm1	T	C	9: 78,064,562	F262L	probably benign	Het
Gm21983	T	C	7: 27,180,180	M121V	probably benign	Het
Gm9996	A	T	10: 29,143,661		probably benign	Het
Gstm3	A	T	3: 107,968,758		probably benign	Het
Gsto2	G	T	19: 47,874,959	E91D	probably damaging	Het
Hs6st3	G	T	14: 119,139,080	M222I	possibly damaging	Het
Ighv3-6	T	C	12: 114,288,230	D90G	probably damaging	Het
Itgb1bp1	C	T	12: 21,276,853	A40T	possibly damaging	Het
Kcns3	C	T	12: 11,091,871	E276K	probably benign	Het
Lamc3	C	T	2: 31,923,022	R1007C	probably damaging	Het
Lnx2	A	T	5: 147,042,067	M125K	probably damaging	Het
Lyst	T	A	13: 13,638,058	N1018K	probably benign	Het
Mctp2	T	A	7: 72,245,542	S186C	probably damaging	Het
Mettl7a1	C	A	15: 100,305,052	S51*	probably null	Het
Olfr352	A	T	2: 36,869,859	T98S	probably benign	Het
Polg	T	C	7: 79,459,771	T433A	possibly damaging	Het
Rdh13	C	T	7: 4,435,060	V127M	probably damaging	Het
Rdh16	A	G	10: 127,813,601	T309A	probably benign	Het
Reep5	A	T	18: 34,373,259	D21E	probably benign	Het
Rptn	A	T	3: 93,396,920	N520I	probably benign	Het
Rttn	T	C	18: 89,028,998	L928P	probably damaging	Het
Slc44a2	A	G	9: 21,342,977	I212V	probably benign	Het
Snupn	A	G	9: 56,963,048	T71A	probably benign	Het
Ssu2	T	C	6: 112,382,392	N89S	probably benign	Het
Thsd7a	A	G	6: 12,321,072	S1535P	probably damaging	Het
Uba7	A	T	9: 107,981,516	S849C	probably benign	Het
Vmn2r80	A	G	10: 79,171,605	T472A	probably benign	Het
Wdr6	A	G	9: 108,578,544	I17T	probably benign	Het
Wdr66	A	G	5: 123,254,636		probably benign	Het
Xkr9	G	A	1: 13,700,949	V230I	probably benign	Het

Other mutations in Faim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01906:Faim2	APN	15	99514433	missense	probably damaging	1.00
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
R5973:Faim2	UTSW	15	99521251	missense	probably benign
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
R7979:Faim2	UTSW	15	99510634	missense	possibly damaging	0.67
R8495:Faim2	UTSW	15	99510592	missense	probably benign	0.08

Posted On

2015-12-18