Mutagenetix > Incidental Mutation

Incidental Mutation 'R7066:Mtfr2'

548580

Institutional Source

Beutler Lab

Gene Symbol

Mtfr2

Ensembl Gene

ENSMUSG00000019992

Gene Name

mitochondrial fission regulator 2

Synonyms

4933412C16Rik, Fam54a, 2610016C23Rik

MMRRC Submission

045162-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R7066 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20223516-20237050 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20229972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 142 (I142V)

Ref Sequence

ENSEMBL: ENSMUSP00000150399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169712] [ENSMUST00000217608]

AlphaFold

Q8VED8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169712
AA Change: I177V

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129315
Gene: ENSMUSG00000019992
AA Change: I177V

Domain	Start	End	E-Value	Type
Pfam:Mito_fiss_reg	40	299	3.7e-88	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217608
AA Change: I142V

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1126

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,904,514 (GRCm39)	V175A	probably damaging	Het
Adamts5	A	T	16: 85,659,652 (GRCm39)	V880E	probably damaging	Het
Adgrf1	T	A	17: 43,621,151 (GRCm39)	F463I	probably benign	Het
Ano1	T	A	7: 144,190,823 (GRCm39)	E249D	probably benign	Het
Aoc1	A	G	6: 48,885,553 (GRCm39)	D686G	probably damaging	Het
Cacna1d	A	T	14: 30,074,935 (GRCm39)		probably benign	Het
Cdc42ep4	A	G	11: 113,620,044 (GRCm39)	S116P	probably damaging	Het
Ces2a	T	C	8: 105,466,880 (GRCm39)	V463A	probably damaging	Het
Depdc5	A	G	5: 33,059,192 (GRCm39)	D297G	probably benign	Het
Fsip2	T	A	2: 82,821,235 (GRCm39)	V5656E	possibly damaging	Het
Gbp5	A	G	3: 142,213,490 (GRCm39)	T469A	probably benign	Het
Gm21663	C	G	5: 26,146,259 (GRCm39)		probably null	Het
Iqch	A	G	9: 63,432,027 (GRCm39)	V456A	probably benign	Het
Lpcat1	A	C	13: 73,659,500 (GRCm39)	I373L	probably benign	Het
Morc2b	C	T	17: 33,355,610 (GRCm39)	V721I	probably benign	Het
Mrgprb1	C	T	7: 48,097,424 (GRCm39)	V163M	probably benign	Het
Muc16	A	T	9: 18,569,317 (GRCm39)	S1067R	unknown	Het
Myh14	T	C	7: 44,280,179 (GRCm39)	S892G	possibly damaging	Het
Mylk2	C	T	2: 152,753,588 (GRCm39)		probably null	Het
Mzf1	A	T	7: 12,777,490 (GRCm39)	V638E	possibly damaging	Het
Ncoa1	C	T	12: 4,372,934 (GRCm39)	V156I	possibly damaging	Het
Nf1	A	G	11: 79,447,546 (GRCm39)	E2450G	probably damaging	Het
Or14j3	T	A	17: 37,901,034 (GRCm39)	D70V	probably damaging	Het
Or1e29	A	G	11: 73,668,018 (GRCm39)	I45T	probably damaging	Het
Or4a72	T	C	2: 89,406,047 (GRCm39)	T8A	probably damaging	Het
Or4f60	G	A	2: 111,902,541 (GRCm39)	P129L	probably damaging	Het
Or5t7	T	A	2: 86,507,570 (GRCm39)	T36S	possibly damaging	Het
Or6c88	T	C	10: 129,407,373 (GRCm39)	L283S	probably damaging	Het
Or8g54	A	G	9: 39,707,420 (GRCm39)	I250V	probably benign	Het
Or8k17	T	C	2: 86,067,002 (GRCm39)	D52G	probably damaging	Het
P4htm	T	G	9: 108,474,162 (GRCm39)	K125N	probably damaging	Het
Patj	A	G	4: 98,301,434 (GRCm39)	T240A	probably benign	Het
Pcolce2	T	C	9: 95,563,674 (GRCm39)	V220A	probably benign	Het
Pcyox1	A	T	6: 86,371,478 (GRCm39)	I136N	probably damaging	Het
Pde4b	A	G	4: 102,460,003 (GRCm39)	S395G	probably benign	Het
Peg3	C	A	7: 6,711,856 (GRCm39)	R1122L	probably damaging	Het
Plekhm1	A	G	11: 103,261,814 (GRCm39)	V922A	possibly damaging	Het
Rad51c	T	C	11: 87,293,502 (GRCm39)	N118S	possibly damaging	Het
Rb1cc1	T	A	1: 6,320,229 (GRCm39)	V1216D	possibly damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rlf	T	C	4: 121,005,984 (GRCm39)	M999V	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,125 (GRCm39)		probably benign	Het
Samd7	G	C	3: 30,805,272 (GRCm39)	K18N	probably benign	Het
Sema5b	A	C	16: 35,471,682 (GRCm39)	D425A	probably benign	Het
Siglecg	A	G	7: 43,061,166 (GRCm39)	E413G	probably benign	Het
Tcaf1	A	T	6: 42,656,111 (GRCm39)	N288K	probably damaging	Het
Tdp1	A	G	12: 99,860,991 (GRCm39)	D210G	probably benign	Het
Umps	A	T	16: 33,782,103 (GRCm39)	L273*	probably null	Het
Vcan	A	T	13: 89,853,805 (GRCm39)	V385D	probably damaging	Het
Wdr59	T	C	8: 112,192,477 (GRCm39)	T676A	probably benign	Het
Zdbf2	A	G	1: 63,346,718 (GRCm39)	H1699R	probably benign	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,594,446 (GRCm39)		probably benign	Het

Other mutations in Mtfr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Mtfr2	APN	10	20,233,394 (GRCm39)	missense	probably damaging	1.00
IGL01547:Mtfr2	APN	10	20,233,345 (GRCm39)	missense	probably damaging	1.00
IGL01763:Mtfr2	APN	10	20,228,683 (GRCm39)	intron	probably benign
IGL01862:Mtfr2	APN	10	20,224,149 (GRCm39)	missense	probably benign	0.06
IGL02707:Mtfr2	APN	10	20,224,084 (GRCm39)	missense	probably benign	0.40
IGL03008:Mtfr2	APN	10	20,229,185 (GRCm39)	missense	possibly damaging	0.86
R0049:Mtfr2	UTSW	10	20,224,158 (GRCm39)	missense	probably damaging	1.00
R0049:Mtfr2	UTSW	10	20,224,158 (GRCm39)	missense	probably damaging	1.00
R0097:Mtfr2	UTSW	10	20,224,122 (GRCm39)	missense	probably damaging	1.00
R0097:Mtfr2	UTSW	10	20,224,122 (GRCm39)	missense	probably damaging	1.00
R1186:Mtfr2	UTSW	10	20,228,598 (GRCm39)	missense	probably benign	0.00
R4466:Mtfr2	UTSW	10	20,224,159 (GRCm39)	missense	probably damaging	1.00
R5288:Mtfr2	UTSW	10	20,233,448 (GRCm39)	missense	probably damaging	0.99
R5373:Mtfr2	UTSW	10	20,228,598 (GRCm39)	missense	probably benign	0.30
R6999:Mtfr2	UTSW	10	20,229,862 (GRCm39)	missense	probably benign	0.05
R7095:Mtfr2	UTSW	10	20,228,666 (GRCm39)	missense	probably benign
R7112:Mtfr2	UTSW	10	20,233,312 (GRCm39)	missense	probably damaging	0.97
R7506:Mtfr2	UTSW	10	20,229,131 (GRCm39)	missense	probably benign	0.06
R7847:Mtfr2	UTSW	10	20,233,198 (GRCm39)	missense	probably benign	0.15
R8017:Mtfr2	UTSW	10	20,229,900 (GRCm39)	missense	probably damaging	0.99
R8019:Mtfr2	UTSW	10	20,229,900 (GRCm39)	missense	probably damaging	0.99
R8049:Mtfr2	UTSW	10	20,228,603 (GRCm39)	missense	possibly damaging	0.95
R8082:Mtfr2	UTSW	10	20,229,135 (GRCm39)	missense	probably benign	0.02
R8933:Mtfr2	UTSW	10	20,233,274 (GRCm39)	missense	possibly damaging	0.53
R9428:Mtfr2	UTSW	10	20,233,039 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TTCCCTTTACTCGCAGACATAG -3'
(R):5'- AATGGCCTTCAGTAGTACAGC -3'

Sequencing Primer
(F):5'- TACTCGCAGACATAGTCTATGGC -3'
(R):5'- GCCTTCAGTAGTACAGCTAGGTC -3'

Posted On

2019-05-13