Mutagenetix > Incidental Mutation

Incidental Mutation 'R2208:Fitm2'

236763

Institutional Source

Beutler Lab

Gene Symbol

Fitm2

Ensembl Gene

ENSMUSG00000048486

Gene Name

fat storage-inducing transmembrane protein 2

Synonyms

D930001I22Rik, Fit2

MMRRC Submission

040210-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2208 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

163466379-163472629 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 163472684 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109418]

AlphaFold

P59266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000065731

SMART Domains

Protein: ENSMUSP00000069586
Gene: ENSMUSG00000053353

Domain	Start	End	E-Value	Type
low complexity region	59	76	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109418

SMART Domains

Protein: ENSMUSP00000105045
Gene: ENSMUSG00000048486

Domain	Start	End	E-Value	Type
Pfam:Scs3p	45	190	2.2e-23	PFAM
transmembrane domain	220	239	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186760

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FIT2 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,194,403	N883K	probably benign	Het
Ahnak	T	C	19: 9,017,732	V5460A	probably benign	Het
Bco2	A	G	9: 50,533,455	V517A	probably damaging	Het
Brca2	T	A	5: 150,532,344	D183E	probably damaging	Het
Ccdc142	T	C	6: 83,107,960		probably null	Het
Ccdc39	A	G	3: 33,841,178	L34P	probably damaging	Het
Cdc42bpb	T	A	12: 111,336,029	H198L	probably damaging	Het
Cdc73	T	A	1: 143,609,382	E516V	probably damaging	Het
Cep170b	T	A	12: 112,738,985	L1059Q	probably benign	Het
Chrm1	T	C	19: 8,678,099	L56P	probably damaging	Het
Clec4d	T	A	6: 123,265,355	V22D	probably damaging	Het
Cyp2c39	T	C	19: 39,560,961	Y308H	possibly damaging	Het
Cyp2d12	T	C	15: 82,556,936	L141P	probably damaging	Het
Cyp4x1	G	T	4: 115,126,594	Q85K	probably benign	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Enpp7	T	C	11: 118,988,762		probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Gm14139	T	A	2: 150,193,145	V462E	probably benign	Het
Gng10	T	A	4: 59,035,314	I26N	possibly damaging	Het
Gpr33	C	T	12: 52,023,453	V268I	probably benign	Het
Hmcn2	G	A	2: 31,380,297	C1182Y	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Krt36	C	T	11: 100,102,939	V358M	probably damaging	Het
Lmod3	T	C	6: 97,247,877	I328V	probably benign	Het
Lrp8	T	C	4: 107,855,790	V580A	probably damaging	Het
Masp2	T	C	4: 148,614,415	I651T	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Msi2	A	T	11: 88,590,108	S118T	probably damaging	Het
Muc19	T	C	15: 91,871,549		noncoding transcript	Het
Nabp1	G	A	1: 51,477,614	R32*	probably null	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Nup88	T	C	11: 70,965,719	D196G	probably damaging	Het
Olfr747	T	C	14: 50,681,563	I24V	probably benign	Het
Pax1	T	A	2: 147,365,802	I198N	probably damaging	Het
Pde3a	A	G	6: 141,250,347	E253G	probably damaging	Het
Phldb1	C	T	9: 44,696,131	R1192Q	probably damaging	Het
Pianp	C	A	6: 124,999,639	P137Q	probably damaging	Het
Prdm15	A	C	16: 97,799,264		probably null	Het
Ptprf	A	T	4: 118,269,172		probably benign	Het
Rfx7	A	G	9: 72,617,964	D812G	probably benign	Het
Rgs22	T	C	15: 36,050,232	T691A	probably benign	Het
Rundc3a	A	T	11: 102,402,088	S436C	probably damaging	Het
Sntb1	T	C	15: 55,906,318	T92A	possibly damaging	Het
Tarsl2	T	C	7: 65,682,848	S566P	probably damaging	Het
Tbc1d32	A	T	10: 56,150,792		probably null	Het
Tep1	T	C	14: 50,866,864	Q191R	probably benign	Het
Tmc2	C	A	2: 130,214,563		probably null	Het
Tns1	A	C	1: 74,079,240	I77S	probably damaging	Het
Trpd52l3	T	C	19: 30,004,246	W134R	probably damaging	Het
Vmn2r15	A	C	5: 109,297,443	N38K	possibly damaging	Het
Wdr90	A	T	17: 25,860,388	D257E	probably damaging	Het
Zbtb9	T	C	17: 26,974,124	C168R	possibly damaging	Het

Other mutations in Fitm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Fitm2	APN	2	163469792	missense	probably benign	0.03
IGL03227:Fitm2	APN	2	163469532	missense	probably benign	0.00
R0481:Fitm2	UTSW	2	163469714	missense	probably benign	0.21
R0846:Fitm2	UTSW	2	163469814	missense	probably benign	0.00
R1595:Fitm2	UTSW	2	163469690	missense	probably benign	0.12
R2205:Fitm2	UTSW	2	163472596	start gained	probably benign
R3113:Fitm2	UTSW	2	163469591	missense	probably damaging	1.00
R4559:Fitm2	UTSW	2	163472673	unclassified	probably benign
R6052:Fitm2	UTSW	2	163470116	missense	probably damaging	1.00
R6150:Fitm2	UTSW	2	163470074	missense	probably damaging	1.00
R7469:Fitm2	UTSW	2	163469822	missense	probably damaging	1.00
R7694:Fitm2	UTSW	2	163469972	missense	probably damaging	0.98
R7774:Fitm2	UTSW	2	163470066	missense	probably damaging	0.99
R7833:Fitm2	UTSW	2	163470099	missense	probably damaging	1.00
R8128:Fitm2	UTSW	2	163469648	missense	probably benign	0.19
R8443:Fitm2	UTSW	2	163469848	missense	probably benign	0.17
R8867:Fitm2	UTSW	2	163469682	missense	possibly damaging	0.87
R9631:Fitm2	UTSW	2	163469837	missense	probably damaging	1.00
Z1088:Fitm2	UTSW	2	163469865	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ATCCAACTGGCTTCTTGGG -3'
(R):5'- TCCCACAAACATGAGGGGAG -3'

Sequencing Primer
(F):5'- CCGATGCACTCACACGTTG -3'
(R):5'- TGAGGGGAGCAGGTTGCC -3'

Posted On

2014-10-02