Mutagenetix > Incidental Mutation

Incidental Mutation 'R8128:Fitm2'

631836

Institutional Source

Beutler Lab

Gene Symbol

Fitm2

Ensembl Gene

ENSMUSG00000048486

Gene Name

fat storage-inducing transmembrane protein 2

Synonyms

D930001I22Rik, Fit2

MMRRC Submission

067557-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8128 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

163310623-163314549 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 163311568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 215 (D215G)

Ref Sequence

ENSEMBL: ENSMUSP00000105045 (fasta)

Gene Model

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

AlphaFold

P59266

Predicted Effect

probably benign
Transcript: ENSMUST00000109418
AA Change: D215G

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105045
Gene: ENSMUSG00000048486
AA Change: D215G

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 96.6%

Validation Efficiency

98% (42/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 9,008,395 (GRCm39)	R1188G	probably damaging	Het
Abcc5	G	A	16: 20,184,473 (GRCm39)	R1036C	probably damaging	Het
Arhgap22	T	A	14: 33,089,042 (GRCm39)	F508I	probably benign	Het
Bahcc1	C	T	11: 120,163,216 (GRCm39)	Q505*	probably null	Het
Birc6	T	A	17: 74,916,253 (GRCm39)	L1723Q	probably damaging	Het
Caprin2	A	G	6: 148,784,940 (GRCm39)		probably null	Het
Cfap69	C	A	5: 5,646,034 (GRCm39)	M555I	probably benign	Het
Cgn	C	T	3: 94,676,691 (GRCm39)	A773T	probably benign	Het
Cnot7	A	G	8: 40,963,129 (GRCm39)	V15A	probably damaging	Het
Col7a1	A	G	9: 108,784,789 (GRCm39)	R206G	unknown	Het
Dscam	C	A	16: 96,602,374 (GRCm39)		probably null	Het
Eif3k	A	T	7: 28,679,742 (GRCm39)		probably benign	Het
Epn2	G	T	11: 61,413,321 (GRCm39)		probably null	Het
Foxa3	A	T	7: 18,757,341 (GRCm39)	M1K	probably null	Het
Glyctk	T	C	9: 106,032,501 (GRCm39)	H504R	probably benign	Het
Grin3b	T	C	10: 79,812,944 (GRCm39)	L394P		Het
Hgh1	A	G	15: 76,254,581 (GRCm39)	Y319C	probably damaging	Het
Hk1	T	C	10: 62,117,622 (GRCm39)	T635A	probably benign	Het
Igsf3	T	A	3: 101,346,947 (GRCm39)	N627K	probably damaging	Het
Lmtk3	G	T	7: 45,443,598 (GRCm39)	M760I		Het
Lrp1b	G	A	2: 41,159,248 (GRCm39)	A1678V	probably null	Het
Lrrc8c	A	T	5: 105,755,488 (GRCm39)	N421I	probably damaging	Het
Mfsd13b	C	A	7: 120,590,495 (GRCm39)	R79S	possibly damaging	Het
Or1q1	A	T	2: 36,887,673 (GRCm39)	M284L	probably benign	Het
Or5p50	A	C	7: 107,422,632 (GRCm39)	F15V	probably damaging	Het
Pappa2	T	C	1: 158,764,234 (GRCm39)	T426A	possibly damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Pkhd1l1	A	T	15: 44,361,449 (GRCm39)	I500F	possibly damaging	Het
Polr3gl	T	A	3: 96,487,824 (GRCm39)		probably null	Het
Psmg3	A	G	5: 139,809,788 (GRCm39)	V86A	probably damaging	Het
Ptgs2	T	A	1: 149,977,099 (GRCm39)	V102E	probably damaging	Het
Rhpn1	T	C	15: 75,583,032 (GRCm39)		probably null	Het
Scand1	T	C	2: 156,153,961 (GRCm39)	D103G	probably damaging	Het
Serpinb6d	T	C	13: 33,850,383 (GRCm39)	I70T	possibly damaging	Het
Slco3a1	A	T	7: 73,934,049 (GRCm39)	S708T	probably damaging	Het
Sprr2d	G	A	3: 92,247,760 (GRCm39)	C67Y	unknown	Het
Taf2	G	A	15: 54,923,384 (GRCm39)	R298C	probably damaging	Het
Trafd1	G	T	5: 121,510,465 (GRCm39)	P567Q	possibly damaging	Het
Trim32	A	G	4: 65,531,682 (GRCm39)	N80D	probably damaging	Het
Vmn1r193	A	G	13: 22,403,113 (GRCm39)	L293S	probably damaging	Het
Vmn2r12	A	T	5: 109,239,747 (GRCm39)	M272K	possibly damaging	Het
Vmn2r90	T	A	17: 17,954,155 (GRCm39)	L773Q	probably damaging	Het

Other mutations in Fitm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Fitm2	APN	2	163,311,712 (GRCm39)	missense	probably benign	0.03
IGL03227:Fitm2	APN	2	163,311,452 (GRCm39)	missense	probably benign	0.00
R0481:Fitm2	UTSW	2	163,311,634 (GRCm39)	missense	probably benign	0.21
R0846:Fitm2	UTSW	2	163,311,734 (GRCm39)	missense	probably benign	0.00
R1595:Fitm2	UTSW	2	163,311,610 (GRCm39)	missense	probably benign	0.12
R2205:Fitm2	UTSW	2	163,314,516 (GRCm39)	start gained	probably benign
R2208:Fitm2	UTSW	2	163,314,604 (GRCm39)	unclassified	probably benign
R3113:Fitm2	UTSW	2	163,311,511 (GRCm39)	missense	probably damaging	1.00
R4559:Fitm2	UTSW	2	163,314,593 (GRCm39)	unclassified	probably benign
R6052:Fitm2	UTSW	2	163,312,036 (GRCm39)	missense	probably damaging	1.00
R6150:Fitm2	UTSW	2	163,311,994 (GRCm39)	missense	probably damaging	1.00
R7469:Fitm2	UTSW	2	163,311,742 (GRCm39)	missense	probably damaging	1.00
R7694:Fitm2	UTSW	2	163,311,892 (GRCm39)	missense	probably damaging	0.98
R7774:Fitm2	UTSW	2	163,311,986 (GRCm39)	missense	probably damaging	0.99
R7833:Fitm2	UTSW	2	163,312,019 (GRCm39)	missense	probably damaging	1.00
R8443:Fitm2	UTSW	2	163,311,768 (GRCm39)	missense	probably benign	0.17
R8867:Fitm2	UTSW	2	163,311,602 (GRCm39)	missense	possibly damaging	0.87
R9631:Fitm2	UTSW	2	163,311,757 (GRCm39)	missense	probably damaging	1.00
Z1088:Fitm2	UTSW	2	163,311,785 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGGACAAAGTACGTGGGAATCC -3'
(R):5'- TTTGACATCTCGGGCCACTC -3'

Sequencing Primer
(F):5'- AGTACGTGGGAATCCTATTAGCC -3'
(R):5'- GGGCCACTCCTTCCTCTTGAC -3'

Posted On

2020-06-30