Mutagenetix > Incidental Mutation

Incidental Mutation 'R8019:Mtfr2'

617272

Institutional Source

Beutler Lab

Gene Symbol

Mtfr2

Ensembl Gene

ENSMUSG00000019992

Gene Name

mitochondrial fission regulator 2

Synonyms

4933412C16Rik, Fam54a, 2610016C23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R8019 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20223516-20237050 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20229900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 153 (N153Y)

Ref Sequence

ENSEMBL: ENSMUSP00000129315 (fasta)

Gene Model

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

AlphaFold

Q8VED8

Predicted Effect

probably damaging
Transcript: ENSMUST00000169712
AA Change: N153Y

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129315
Gene: ENSMUSG00000019992
AA Change: N153Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217608
AA Change: N118Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	G	T	4: 124,744,469 (GRCm39)	A51E	unknown	Het
A2ml1	C	T	6: 128,558,410 (GRCm39)		probably null	Het
Aimp2	G	A	5: 143,846,412 (GRCm39)	A41V	probably benign	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Bnc2	A	G	4: 84,329,662 (GRCm39)	L118P		Het
Ccdc18	T	A	5: 108,376,511 (GRCm39)	Y1317*	probably null	Het
Ccdc93	C	T	1: 121,375,993 (GRCm39)	T168M	probably damaging	Het
Cd109	G	T	9: 78,614,828 (GRCm39)	D1292Y	possibly damaging	Het
Cdh24	G	T	14: 54,876,089 (GRCm39)	N184K	probably damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Cspg4b	T	A	13: 113,456,157 (GRCm39)	S734R		Het
Efemp2	T	A	19: 5,527,708 (GRCm39)	C181*	probably null	Het
Eftud2	A	G	11: 102,734,174 (GRCm39)		probably null	Het
Elp2	G	A	18: 24,739,920 (GRCm39)	V49M	possibly damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Exph5	G	A	9: 53,284,752 (GRCm39)	C611Y	probably benign	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Gm9376	T	G	14: 118,504,951 (GRCm39)	Y128D	probably damaging	Het
Gsdmc2	T	A	15: 63,698,762 (GRCm39)	N278I	probably benign	Het
Hace1	C	T	10: 45,514,478 (GRCm39)	T199M	probably damaging	Het
Hivep1	T	C	13: 42,321,098 (GRCm39)	V44A		Het
Homez	A	C	14: 55,095,689 (GRCm39)	D6E	probably benign	Het
Ighv5-12	A	T	12: 113,665,792 (GRCm39)	M102K	probably damaging	Het
Jup	T	C	11: 100,265,023 (GRCm39)	T643A	probably benign	Het
Kif17	G	A	4: 138,023,536 (GRCm39)	R927Q	probably benign	Het
Krt4	T	A	15: 101,828,722 (GRCm39)	I381F	probably damaging	Het
Krt6a	A	G	15: 101,602,304 (GRCm39)	V127A	probably damaging	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Npas3	G	A	12: 54,091,462 (GRCm39)	V339I	probably damaging	Het
Nsun2	C	T	13: 69,775,764 (GRCm39)	R438C	probably damaging	Het
Oga	A	T	19: 45,762,107 (GRCm39)	W249R	probably damaging	Het
Or4c1	T	A	2: 89,133,595 (GRCm39)	I114F	possibly damaging	Het
Or4k47	A	C	2: 111,452,412 (GRCm39)	D2E	probably benign	Het
Or5w16	T	A	2: 87,577,392 (GRCm39)	M284K	probably damaging	Het
Pdzd2	T	C	15: 12,373,122 (GRCm39)	R2338G	probably damaging	Het
Pgm1	A	G	4: 99,843,875 (GRCm39)	M553V	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Ppp2r5e	A	G	12: 75,511,703 (GRCm39)	I340T	probably damaging	Het
Qprt	C	A	7: 126,707,996 (GRCm39)	R145L	probably damaging	Het
Sertad4	T	C	1: 192,528,829 (GRCm39)	D329G	probably benign	Het
Setd2	C	T	9: 110,431,255 (GRCm39)	T583M		Het
Slc12a7	T	C	13: 73,947,839 (GRCm39)	I652T	probably damaging	Het
Slc27a5	T	C	7: 12,723,329 (GRCm39)	D539G	probably damaging	Het
Slc36a2	A	G	11: 55,055,095 (GRCm39)	I320T	probably benign	Het
Slc6a20a	A	G	9: 123,466,917 (GRCm39)	Y524H	probably damaging	Het
Slc6a20a	T	A	9: 123,493,639 (GRCm39)	S81C	probably damaging	Het
Srf	G	T	17: 46,866,748 (GRCm39)	P3T	unknown	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Stag3	T	C	5: 138,299,465 (GRCm39)	M828T	possibly damaging	Het
Stk36	T	C	1: 74,651,925 (GRCm39)	V406A	probably benign	Het
Svep1	G	T	4: 58,146,637 (GRCm39)	P335Q	probably damaging	Het
Svs5	T	A	2: 164,175,341 (GRCm39)	S64R	possibly damaging	Het
Taf2	A	G	15: 54,928,013 (GRCm39)	V130A	possibly damaging	Het
Tbrg4	C	T	11: 6,568,517 (GRCm39)	V421M	probably damaging	Het
Tbx4	G	T	11: 85,804,986 (GRCm39)	K358N	probably damaging	Het
Tenm4	A	T	7: 96,353,248 (GRCm39)	T384S	probably damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Vmn1r159	A	T	7: 22,542,248 (GRCm39)	H261Q	probably benign	Het
Zfp574	T	A	7: 24,780,095 (GRCm39)	C372*	probably null	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
R7066:Mtfr2	UTSW	10	20,229,972 (GRCm39)	missense	possibly damaging	0.91
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
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'- TTGAAAAGTTTCCTTCCTGTGC -3'
(R):5'- CTTTAGCCTTGGTTCACAGCAG -3'

Sequencing Primer
(F):5'- GAAAAGTTTCCTTCCTGTGCGTTTTC -3'
(R):5'- GATGTTTTACTCAGAACGCTGCTGAC -3'

Posted On

2020-01-23