Mutagenetix > Incidental Mutation

Incidental Mutation 'R9277:Faim2'

703397

Institutional Source

Beutler Lab

Gene Symbol

Faim2

Ensembl Gene

ENSMUSG00000023011

Gene Name

Fas apoptotic inhibitory molecule 2

Synonyms

Tmbim2, 2900002L20Rik, Lfg, lifeguard, NMP25

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R9277 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99394893-99426046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99419097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 91 (T91A)

Ref Sequence

ENSEMBL: ENSMUSP00000023750 (fasta)

Gene Model

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

AlphaFold

Q8K097

Predicted Effect

probably benign
Transcript: ENSMUST00000023750
AA Change: T91A

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

SMART Domains

Protein: ENSMUSP00000023750
Gene: ENSMUSG00000023011
AA Change: T91A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231171
AA Change: T79A

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

Meta Mutation Damage Score

0.0607

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,867,347 (GRCm39)	Y237C	probably damaging	Het
Adam12	T	C	7: 133,521,561 (GRCm39)	S566G	probably benign	Het
Afdn	T	A	17: 14,024,270 (GRCm39)	C59S	probably damaging	Het
Apob	A	T	12: 8,061,183 (GRCm39)	I3222F	probably benign	Het
Cdyl	A	G	13: 36,042,222 (GRCm39)	D420G	probably benign	Het
Cela1	C	A	15: 100,580,894 (GRCm39)	A121S	possibly damaging	Het
Clip2	A	G	5: 134,528,963 (GRCm39)	M822T	probably benign	Het
Coq8a	G	A	1: 180,006,776 (GRCm39)	T84I	probably benign	Het
Dars2	G	A	1: 160,877,527 (GRCm39)	A390V	probably benign	Het
Dhx40	C	T	11: 86,661,056 (GRCm39)	M744I	probably benign	Het
Dnajc14	A	G	10: 128,642,689 (GRCm39)	I204V	probably benign	Het
Eftud2	A	C	11: 102,750,855 (GRCm39)	F322V	probably damaging	Het
Eif4g2	G	A	7: 110,674,066 (GRCm39)	A646V	probably damaging	Het
Fancl	A	T	11: 26,418,847 (GRCm39)	I290F	possibly damaging	Het
Fermt3	A	T	19: 6,991,245 (GRCm39)	Y253N	possibly damaging	Het
Fhip1a	C	A	3: 85,579,565 (GRCm39)	R880L	probably benign	Het
Frem3	T	A	8: 81,417,402 (GRCm39)	S2036T	probably damaging	Het
Gm10330	A	T	12: 23,829,911 (GRCm39)	V90E	probably damaging	Het
Golga1	T	C	2: 38,914,255 (GRCm39)	E488G	probably benign	Het
Gpatch11	T	A	17: 79,148,446 (GRCm39)	L128Q	possibly damaging	Het
Hoxd9	A	G	2: 74,529,539 (GRCm39)	N265S	possibly damaging	Het
Igfn1	C	T	1: 135,887,520 (GRCm39)	V2515M	probably damaging	Het
Itga2b	A	G	11: 102,351,982 (GRCm39)	L505P	probably damaging	Het
Klrg2	A	G	6: 38,613,491 (GRCm39)	S171P	probably benign	Het
Lamtor5	A	G	3: 107,186,404 (GRCm39)	T58A	probably benign	Het
Lgr6	G	T	1: 134,915,217 (GRCm39)	C787*	probably null	Het
Madd	A	G	2: 91,006,055 (GRCm39)	F380S	probably damaging	Het
Magi1	A	T	6: 93,920,234 (GRCm39)	H127Q	possibly damaging	Het
Maml2	A	G	9: 13,531,872 (GRCm39)	E362G		Het
Morc2b	C	T	17: 33,354,997 (GRCm39)	G925D	probably benign	Het
Nalcn	C	T	14: 123,518,523 (GRCm39)	R1672H	probably damaging	Het
Npsr1	A	G	9: 24,224,493 (GRCm39)	Y290C	possibly damaging	Het
Obox5	A	T	7: 15,491,877 (GRCm39)	E97D	probably damaging	Het
Parn	C	T	16: 13,482,519 (GRCm39)		probably null	Het
Pip4k2b	A	T	11: 97,613,272 (GRCm39)	N241K	probably damaging	Het
Pkn2	A	G	3: 142,516,509 (GRCm39)	V539A	probably benign	Het
Plpp7	A	T	2: 31,985,824 (GRCm39)	M1L	probably damaging	Het
Pramel43	T	C	5: 94,762,843 (GRCm39)	T60A	probably benign	Het
Pramel44	A	G	5: 94,771,917 (GRCm39)	T16A	probably benign	Het
Prtg	G	A	9: 72,716,929 (GRCm39)	S90N	probably benign	Het
Rgs7bp	G	A	13: 105,100,618 (GRCm39)	T219M	probably damaging	Het
Scgb1b20	G	A	7: 33,072,998 (GRCm39)	D69N	probably benign	Het
Setd2	A	G	9: 110,379,619 (GRCm39)	T1145A	probably damaging	Het
Slc49a3	G	T	5: 108,589,864 (GRCm39)	P513T	probably benign	Het
Tmem145	A	G	7: 25,009,165 (GRCm39)	Q359R	probably benign	Het
Trmt5	C	A	12: 73,329,448 (GRCm39)	D237Y	probably damaging	Het
Vmn1r169	A	T	7: 23,277,390 (GRCm39)	I261F	probably benign	Het
Vmn1r19	A	T	6: 57,382,322 (GRCm39)	I292F	unknown	Het
Vmn2r66	T	C	7: 84,661,164 (GRCm39)	D22G	probably benign	Het
Vwa3b	T	A	1: 37,196,534 (GRCm39)		probably null	Het
Wbp4	T	A	14: 79,714,353 (GRCm39)	D53V	probably benign	Het
Xpo1	A	G	11: 23,241,550 (GRCm39)	I866V	probably benign	Het
Zan	G	A	5: 137,462,254 (GRCm39)	P975L	unknown	Het
Zdhhc19	G	A	16: 32,316,512 (GRCm39)	R89Q	probably benign	Het
Zer1	G	A	2: 30,001,297 (GRCm39)	T69I	probably benign	Het
Zfp827	C	T	8: 79,787,029 (GRCm39)	T65I	probably damaging	Het
Zswim9	A	G	7: 12,994,983 (GRCm39)	F391S	probably damaging	Het

Other mutations in Faim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01906:Faim2	APN	15	99,412,314 (GRCm39)	missense	probably damaging	1.00
IGL02820:Faim2	APN	15	99,419,138 (GRCm39)	missense	probably benign	0.02
IGL02989:Faim2	APN	15	99,418,243 (GRCm39)	splice site	probably benign
R0827:Faim2	UTSW	15	99,422,617 (GRCm39)	missense	probably benign
R1171:Faim2	UTSW	15	99,398,135 (GRCm39)	missense	probably benign	0.05
R1678:Faim2	UTSW	15	99,418,217 (GRCm39)	missense	possibly damaging	0.92
R1785:Faim2	UTSW	15	99,410,423 (GRCm39)	missense	probably damaging	1.00
R2004:Faim2	UTSW	15	99,398,127 (GRCm39)	missense	possibly damaging	0.87
R2063:Faim2	UTSW	15	99,412,314 (GRCm39)	missense	probably damaging	1.00
R3401:Faim2	UTSW	15	99,418,229 (GRCm39)	missense	probably damaging	0.98
R4242:Faim2	UTSW	15	99,398,082 (GRCm39)	missense	probably damaging	1.00
R4664:Faim2	UTSW	15	99,422,582 (GRCm39)	missense	probably benign
R4664:Faim2	UTSW	15	99,422,581 (GRCm39)	critical splice donor site	probably null
R4665:Faim2	UTSW	15	99,422,582 (GRCm39)	missense	probably benign
R4665:Faim2	UTSW	15	99,422,581 (GRCm39)	critical splice donor site	probably null
R4719:Faim2	UTSW	15	99,425,460 (GRCm39)	critical splice donor site	probably null
R4952:Faim2	UTSW	15	99,419,109 (GRCm39)	missense	possibly damaging	0.51
R5973:Faim2	UTSW	15	99,419,132 (GRCm39)	missense	probably benign
R7162:Faim2	UTSW	15	99,419,048 (GRCm39)	critical splice donor site	probably null
R7305:Faim2	UTSW	15	99,411,814 (GRCm39)	missense	probably damaging	0.99
R7601:Faim2	UTSW	15	99,398,147 (GRCm39)	missense	probably damaging	1.00
R7979:Faim2	UTSW	15	99,408,515 (GRCm39)	missense	possibly damaging	0.67
R8495:Faim2	UTSW	15	99,408,473 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TGAGACCTCAGAAGCACAAG -3'
(R):5'- TCAAAGGGGTATTTGACAGTGG -3'

Sequencing Primer
(F):5'- CCGTAAGCTGGGATGGC -3'
(R):5'- TGGGACTGGAGAGAAAGACTTTAG -3'

Posted On

2022-03-25