Mutagenetix > Incidental Mutation

Incidental Mutation 'R2063:Faim2'

228893

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

040068-MU

Accession Numbers

Essential gene?

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

Stock #

R2063 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99394893-99426046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99412314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 140 (T140I)

Ref Sequence

ENSEMBL: ENSMUSP00000155195 (fasta)

Gene Model

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

AlphaFold

Q8K097

Predicted Effect

probably damaging
Transcript: ENSMUST00000023750
AA Change: T152I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023750
Gene: ENSMUSG00000023011
AA Change: T152I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230837

Predicted Effect

probably damaging
Transcript: ENSMUST00000231171
AA Change: T140I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231211

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Abca15	A	T	7: 119,960,127 (GRCm39)	T637S	possibly damaging	Het
Adgrv1	T	C	13: 81,709,588 (GRCm39)	K1135R	possibly damaging	Het
Afap1l1	A	T	18: 61,872,193 (GRCm39)		probably null	Het
AI467606	A	G	7: 126,692,009 (GRCm39)	S195G	probably damaging	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Ccnt1	A	T	15: 98,449,823 (GRCm39)	H156Q	probably benign	Het
Cic	T	A	7: 24,972,876 (GRCm39)	V869E	probably damaging	Het
Cpsf2	A	G	12: 101,949,722 (GRCm39)	D118G	probably damaging	Het
Csnk1g1	A	G	9: 65,909,512 (GRCm39)	S210G	probably damaging	Het
Cyp2c40	T	A	19: 39,775,224 (GRCm39)	M343L	probably benign	Het
Cyp4a12b	A	T	4: 115,290,700 (GRCm39)	D274V	possibly damaging	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnah3	C	T	7: 119,551,132 (GRCm39)	M3062I	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Elavl2	A	T	4: 91,141,687 (GRCm39)	S278R	possibly damaging	Het
Emilin2	T	C	17: 71,581,950 (GRCm39)	S259G	probably benign	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Fbxo21	T	C	5: 118,115,031 (GRCm39)	S56P	probably benign	Het
Fgb	C	A	3: 82,956,996 (GRCm39)	D25Y	probably benign	Het
Foxj2	A	T	6: 122,817,200 (GRCm39)	H509L	probably benign	Het
Fth1	T	A	19: 9,961,576 (GRCm39)	L49Q	probably damaging	Het
Gbp11	C	A	5: 105,476,450 (GRCm39)	E220*	probably null	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm1527	C	A	3: 28,980,796 (GRCm39)	T632N	probably benign	Het
Gm4787	A	T	12: 81,425,694 (GRCm39)	S155T	probably benign	Het
Gtf2f2	A	G	14: 76,155,136 (GRCm39)	S142P	possibly damaging	Het
Helb	T	C	10: 119,941,671 (GRCm39)	Y339C	probably benign	Het
Hs3st4	A	G	7: 123,996,236 (GRCm39)	I301V	probably benign	Het
Hunk	A	G	16: 90,290,368 (GRCm39)	D382G	probably damaging	Het
Ifnb1	T	A	4: 88,440,996 (GRCm39)	I6F	possibly damaging	Het
Il10	T	C	1: 130,947,770 (GRCm39)	L41P	probably damaging	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Invs	T	A	4: 48,396,287 (GRCm39)	L320Q	probably damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Krt90	T	C	15: 101,466,794 (GRCm39)	E263G	probably benign	Het
Lama2	C	T	10: 27,040,922 (GRCm39)	C1467Y	probably damaging	Het
Maco1	A	T	4: 134,555,590 (GRCm39)	N294K	possibly damaging	Het
Med24	A	G	11: 98,606,472 (GRCm39)	L330P	probably damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Mtcl1	T	C	17: 66,653,350 (GRCm39)	R1065G	probably damaging	Het
Mtmr14	G	A	6: 113,217,322 (GRCm39)	G38D	probably damaging	Het
Mtus1	T	C	8: 41,535,745 (GRCm39)	E657G	probably damaging	Het
Muc21	T	A	17: 35,932,297 (GRCm39)		probably benign	Het
Myo5c	A	T	9: 75,189,150 (GRCm39)	Q1020L	probably benign	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Nckap1	T	C	2: 80,400,494 (GRCm39)	K69R	probably damaging	Het
Nlrp1b	T	C	11: 71,051,912 (GRCm39)	N1012D	probably benign	Het
Ntrk2	A	C	13: 59,007,111 (GRCm39)	K238Q	probably damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or52n2b	T	C	7: 104,565,982 (GRCm39)	N174D	probably benign	Het
Pcdh8	A	T	14: 80,005,651 (GRCm39)	S912R	probably damaging	Het
Pfpl	C	T	19: 12,407,237 (GRCm39)	S496L	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Pkhd1l1	A	T	15: 44,414,148 (GRCm39)	H2805L	possibly damaging	Het
Pla2g4a	T	C	1: 149,716,427 (GRCm39)	N678S	possibly damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Polr1a	T	G	6: 71,913,269 (GRCm39)		probably null	Het
Prl3d3	A	C	13: 27,346,304 (GRCm39)	E180D	probably benign	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Prpf3	A	T	3: 95,751,551 (GRCm39)	D383E	probably benign	Het
Psmc4	A	T	7: 27,748,322 (GRCm39)	L73H	probably damaging	Het
Rapgef3	C	A	15: 97,664,842 (GRCm39)	G7V	probably damaging	Het
Rasl12	G	A	9: 65,318,106 (GRCm39)	G157R	probably damaging	Het
Rnf38	A	C	4: 44,149,098 (GRCm39)	V83G	probably damaging	Het
Rnls	A	C	19: 33,179,944 (GRCm39)	S51A	probably benign	Het
Siglecf	A	G	7: 43,001,804 (GRCm39)	T205A	possibly damaging	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc12a5	C	T	2: 164,839,067 (GRCm39)	R1072W	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,998,320 (GRCm39)		probably benign	Het
Specc1	T	G	11: 62,009,122 (GRCm39)	S293A	probably benign	Het
Speer2	T	G	16: 69,657,385 (GRCm39)	Q86P	probably benign	Het
Tbc1d15	T	C	10: 115,065,078 (GRCm39)	D169G	probably benign	Het
Tbx20	C	A	9: 24,681,067 (GRCm39)	E142*	probably null	Het
Tcp1	T	A	17: 13,139,699 (GRCm39)	L199H	probably damaging	Het
Tex26	A	T	5: 149,363,204 (GRCm39)	R5W	probably damaging	Het
Tg	C	A	15: 66,700,402 (GRCm39)	A120E	probably damaging	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Troap	T	C	15: 98,980,344 (GRCm39)	L508P	probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ush1c	T	C	7: 45,878,905 (GRCm39)	Y74C	probably damaging	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Vps54	C	T	11: 21,227,955 (GRCm39)	T176I	probably damaging	Het
Wdr95	T	C	5: 149,502,627 (GRCm39)		probably null	Het
Zfp81	T	C	17: 33,554,278 (GRCm39)	T179A	probably benign	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
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
R9277:Faim2	UTSW	15	99,419,097 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGATGGAAGGCATGGCTCAG -3'
(R):5'- TAATATGCTTGTCCCACCCAAC -3'

Sequencing Primer
(F):5'- AACTCGCTTTGTAGACCAGG -3'
(R):5'- TTGTCCCACCCAACCTCAC -3'

Posted On

2014-09-17