Mutagenetix > Incidental Mutations

Incidental Mutation 'R4719:Faim2'

386352

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

041957-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4719 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99497012-99528165 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 99527579 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155195 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000023750

SMART Domains

Protein: ENSMUSP00000023750
Gene: ENSMUSG00000023011

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 null
Transcript: ENSMUST00000231171

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

99% (76/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,259,627	Y971C	probably damaging	Het
Actr5	T	A	2: 158,626,513	S188T	probably damaging	Het
Adamtsl4	A	G	3: 95,679,586		probably null	Het
Agbl2	A	G	2: 90,815,389	N822S	probably benign	Het
Ankdd1b	T	A	13: 96,417,747		probably benign	Het
Arhgef40	C	T	14: 52,004,938		probably benign	Het
Art5	A	G	7: 102,098,494		probably null	Het
Cacna1s	T	C	1: 136,118,652		probably benign	Het
Car9	G	A	4: 43,508,616	W42*	probably null	Het
Cdh20	T	C	1: 104,934,310	Y72H	probably damaging	Het
Ces1g	T	C	8: 93,317,090	D407G	possibly damaging	Het
Cngb3	T	A	4: 19,309,562	D73E	probably benign	Het
Col6a4	A	T	9: 106,068,252	F888I	probably damaging	Het
Dgat2	T	C	7: 99,158,297	D222G	probably benign	Het
Dscaml1	T	C	9: 45,672,695	M486T	probably benign	Het
Fam173b	T	G	15: 31,608,097	V98G	probably damaging	Het
Fance	T	C	17: 28,318,319		probably benign	Het
Fancm	G	T	12: 65,121,706	M1614I	possibly damaging	Het
Fcrl5	A	T	3: 87,444,189	N248I	probably damaging	Het
Foxo3	G	A	10: 42,197,778	R29W	probably damaging	Het
Gabbr2	A	G	4: 46,718,797	Y74H	probably damaging	Het
Gatd1	A	C	7: 141,411,068	D55E	probably benign	Het
Gpr152	C	A	19: 4,143,224	Q255K	possibly damaging	Het
Havcr1	A	G	11: 46,752,441	T63A	probably benign	Het
Hltf	T	C	3: 20,064,701		probably null	Het
Ifit3b	A	T	19: 34,612,630	Q402L	probably damaging	Het
Ints3	A	G	3: 90,415,521	L134S	probably benign	Het
Kcna10	A	G	3: 107,194,901	T283A	probably benign	Het
Kmt2e	A	C	5: 23,492,315	R590S	probably damaging	Het
Lefty1	A	T	1: 180,937,712	N282Y	probably benign	Het
Loxl4	T	A	19: 42,607,591	Y141F	probably benign	Het
Lrrn2	T	C	1: 132,939,177	V660A	probably benign	Het
Lyst	T	C	13: 13,650,350	S1517P	probably benign	Het
Mcoln2	A	G	3: 146,175,713	H208R	probably benign	Het
Mdga2	C	T	12: 66,471,001		probably benign	Het
Mpp2	T	A	11: 102,064,433	E122V	possibly damaging	Het
Mrgprb5	T	C	7: 48,168,778	N70D	probably damaging	Het
Muc5ac	A	T	7: 141,789,763	E37D	possibly damaging	Het
Nbeal1	T	A	1: 60,235,563		probably null	Het
Ncoa6	T	C	2: 155,391,161		probably benign	Het
Nfib	C	A	4: 82,504,730		probably null	Het
Nostrin	G	T	2: 69,144,812	G24*	probably null	Het
Nudc	A	G	4: 133,533,265	Y293H	probably damaging	Het
Olfr643	T	A	7: 104,058,733	N290Y	probably damaging	Het
Pcmtd1	T	A	1: 7,155,101	Y41*	probably null	Het
Pigt	T	C	2: 164,501,624	L340P	probably damaging	Het
Pomgnt1	T	C	4: 116,155,775	Y420H	probably damaging	Het
Pramel6	C	T	2: 87,510,752	T476I	probably benign	Het
Ptprn2	T	A	12: 116,824,396	H118Q	possibly damaging	Het
Rasl10a	G	A	11: 5,058,517	S71N	probably benign	Het
Rnf213	A	G	11: 119,420,067	I804V	probably benign	Het
Rps4l-ps	T	C	7: 114,927,302		noncoding transcript	Het
Sash1	T	A	10: 8,729,713	H971L	probably benign	Het
Secisbp2	T	A	13: 51,652,732	F54L	possibly damaging	Het
Senp1	A	T	15: 98,056,850	H484Q	probably benign	Het
Slc12a1	T	C	2: 125,153,993	I22T	possibly damaging	Het
Slc25a36	A	G	9: 97,090,119		probably benign	Het
Srcap	T	A	7: 127,541,559	S1443T	probably benign	Het
Sv2c	T	C	13: 95,986,811	T385A	probably benign	Het
Tas2r131	T	A	6: 132,956,973	H291L	probably damaging	Het
Thbs3	A	G	3: 89,216,840	D80G	probably damaging	Het
Tnxb	C	T	17: 34,689,420	S1349L	probably damaging	Het
Toporsl	A	G	4: 52,611,996	R630G	probably benign	Het
Vmn1r43	C	A	6: 89,869,855	M216I	probably benign	Het
Wdr17	T	A	8: 54,639,876	E1068D	probably benign	Het
Wnt10a	G	A	1: 74,803,603	V413I	probably damaging	Het
Zfp141	T	C	7: 42,476,687		probably null	Het
Zfp169	T	C	13: 48,490,158	I498V	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTATTCCTTGAAATGGGCTGTTTG -3'
(R):5'- AGGCCAAAGCGCATGTCTTG -3'

Sequencing Primer
(F):5'- TGGTCCTCTTGACATCAGCAAAAG -3'
(R):5'- AGCAGCATCTTCCCAGGC -3'

Posted On

2016-05-18