Mutagenetix > Incidental Mutations

Incidental Mutation 'R4079:Mfn1'

316736

Institutional Source

Beutler Lab

Gene Symbol

Mfn1

Ensembl Gene

ENSMUSG00000027668

Gene Name

mitofusin 1

Synonyms

6330416C07Rik, HR2, D3Ertd265e, 2310002F04Rik

MMRRC Submission

040976-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32529465-32579239 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 32542849 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 152 (L152W)

Ref Sequence

ENSEMBL: ENSMUSP00000116380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091257] [ENSMUST00000118286] [ENSMUST00000137565] [ENSMUST00000147350]

Predicted Effect

probably damaging
Transcript: ENSMUST00000091257
AA Change: L152W

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

SMART Domains

Protein: ENSMUSP00000088801
Gene: ENSMUSG00000027668
AA Change: L152W

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	77	237	1.7e-6	PFAM
Pfam:Dynamin_N	78	238	3.9e-24	PFAM
low complexity region	315	326	N/A	INTRINSIC
low complexity region	394	405	N/A	INTRINSIC
Pfam:Fzo_mitofusin	575	735	1.2e-78	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118286
AA Change: L152W

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

SMART Domains

Protein: ENSMUSP00000113251
Gene: ENSMUSG00000027668
AA Change: L152W

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	77	237	1.2e-6	PFAM
Pfam:Dynamin_N	78	238	5e-24	PFAM
low complexity region	315	326	N/A	INTRINSIC
low complexity region	394	405	N/A	INTRINSIC
Pfam:Fzo_mitofusin	567	737	6.3e-86	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125182

Predicted Effect

probably damaging
Transcript: ENSMUST00000137565
AA Change: L152W

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

SMART Domains

Protein: ENSMUSP00000117411
Gene: ENSMUSG00000027668
AA Change: L152W

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	77	188	3.8e-6	PFAM
Pfam:Dynamin_N	78	189	5.1e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140328

Predicted Effect

probably damaging
Transcript: ENSMUST00000147350
AA Change: L152W

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

SMART Domains

Protein: ENSMUSP00000116380
Gene: ENSMUSG00000027668
AA Change: L152W

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	77	237	3.6e-8	PFAM
Pfam:Dynamin_N	78	238	1.5e-25	PFAM

Meta Mutation Damage Score

0.8930

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (73/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die in mid gestation. Structural and functional abnormalities of mitochondria are reported. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	C	G	4: 126,353,680		probably null	Het
Ankfy1	C	A	11: 72,690,009		probably benign	Het
Ap4b1	T	A	3: 103,813,378	N121K	probably damaging	Het
Arhgef12	T	C	9: 42,975,292	M1131V	probably damaging	Het
Arl5c	A	T	11: 97,993,501	I88N	probably damaging	Het
Armc9	A	T	1: 86,213,129		probably benign	Het
Bnc1	T	C	7: 81,973,760	E573G	probably damaging	Het
Btaf1	A	G	19: 36,986,479	T817A	probably benign	Het
C3	C	T	17: 57,205,303	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,341,669	V293A	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cbfa2t3	A	G	8: 122,647,695		probably null	Het
Ccdc18	C	T	5: 108,158,528	Q270*	probably null	Het
Cdc45	A	T	16: 18,811,360	V19D	probably damaging	Het
Cfap57	C	A	4: 118,598,997	S500I	probably benign	Het
Cnga3	A	T	1: 37,241,865	Q47L	possibly damaging	Het
Corin	T	C	5: 72,503,883	D89G	probably benign	Het
Cox16	A	T	12: 81,474,335		probably benign	Het
Cyp2a4	A	G	7: 26,307,366	N50S	probably benign	Het
Diaph1	T	A	18: 37,853,583	E1116D	possibly damaging	Het
Dlg5	T	C	14: 24,148,260	D1535G	possibly damaging	Het
Enpp1	A	G	10: 24,669,007		probably null	Het
F13b	T	A	1: 139,501,770	F9I	unknown	Het
Fcer1a	C	T	1: 173,225,353	C36Y	probably damaging	Het
Fcho2	A	G	13: 98,755,612	V318A	probably damaging	Het
Fzd9	A	G	5: 135,249,636	V465A	probably benign	Het
Gm10354	A	T	5: 14,977,649	L71Q	probably damaging	Het
Hbs1l	T	C	10: 21,352,602	V493A	probably damaging	Het
Hgs	T	A	11: 120,483,048	S723T	probably benign	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Kpna7	A	G	5: 145,005,927	I83T	possibly damaging	Het
Llgl1	C	A	11: 60,710,284		probably null	Het
Lrig3	A	C	10: 126,009,787	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,096,037	I261T	possibly damaging	Het
Mog	A	G	17: 37,012,410	F212S	probably damaging	Het
Mpeg1	A	G	19: 12,462,270	N364S	probably damaging	Het
Mtmr3	C	T	11: 4,491,057	R531Q	probably damaging	Het
Mx2	A	G	16: 97,556,036	N443S	probably damaging	Het
Nfatc3	T	C	8: 106,079,491	Y323H	probably damaging	Het
Nup188	G	A	2: 30,309,878	D305N	probably damaging	Het
Obscn	A	G	11: 59,038,363	V6145A	probably benign	Het
Olfr1037	A	G	2: 86,085,312	V155A	possibly damaging	Het
Olfr686	A	T	7: 105,204,021	H107Q	probably damaging	Het
Patl1	C	T	19: 11,931,630	A467V	probably damaging	Het
Pdss2	A	T	10: 43,402,522	M342L	probably benign	Het
Phax	A	G	18: 56,575,979	N183S	possibly damaging	Het
Pnck	A	T	X: 73,658,155	V93E	probably damaging	Het
Prol1	A	G	5: 88,328,216	N155S	unknown	Het
Ptprk	G	A	10: 28,263,512	V78I	probably benign	Het
Ptpru	A	T	4: 131,798,710		probably null	Het
Ptprv	A	G	1: 135,110,430		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,757	N233S	probably damaging	Het
Rapgefl1	A	G	11: 98,849,977	T552A	probably benign	Het
Rasgrp1	A	G	2: 117,285,029	S693P	probably benign	Het
Scyl2	A	T	10: 89,640,596	M889K	probably benign	Het
Serpina3a	C	T	12: 104,119,675	Q320*	probably null	Het
Slc12a1	A	T	2: 125,200,623	N733I	possibly damaging	Het
Snap47	C	T	11: 59,428,551	V254I	probably benign	Het
St6galnac2	A	T	11: 116,681,898	L244Q	possibly damaging	Het
Syce1	C	A	7: 140,779,896	L83F	probably damaging	Het
Tjp2	A	T	19: 24,108,818	V780E	possibly damaging	Het
Tns1	G	A	1: 73,995,308	R192C	probably damaging	Het
Trav6-3	T	C	14: 53,430,080	L3P	possibly damaging	Het
Ung	G	T	5: 114,130,623		probably null	Het
Usp32	T	A	11: 85,039,229	Y574F	probably damaging	Het

Other mutations in Mfn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01155:Mfn1	APN	3	32542836	missense	probably damaging	1.00
IGL01687:Mfn1	APN	3	32563366	splice site	probably benign
IGL02743:Mfn1	APN	3	32574290	missense	probably benign	0.10
PIT4520001:Mfn1	UTSW	3	32561546	missense	probably benign
R0039:Mfn1	UTSW	3	32538267	splice site	probably benign
R0571:Mfn1	UTSW	3	32561472	missense	probably damaging	1.00
R0920:Mfn1	UTSW	3	32534236	critical splice acceptor site	probably null
R1661:Mfn1	UTSW	3	32534322	missense	probably benign	0.00
R1665:Mfn1	UTSW	3	32534322	missense	probably benign	0.00
R2153:Mfn1	UTSW	3	32542826	missense	probably damaging	1.00
R2156:Mfn1	UTSW	3	32534251	missense	possibly damaging	0.60
R2260:Mfn1	UTSW	3	32563426	nonsense	probably null
R2420:Mfn1	UTSW	3	32569515	missense	probably benign	0.21
R3864:Mfn1	UTSW	3	32563092	missense	possibly damaging	0.89
R4162:Mfn1	UTSW	3	32562998	splice site	probably benign
R4897:Mfn1	UTSW	3	32546562	intron	probably benign
R5115:Mfn1	UTSW	3	32564307	critical splice donor site	probably null
R5276:Mfn1	UTSW	3	32564205	missense	probably benign	0.39
R5590:Mfn1	UTSW	3	32563847	missense	probably benign	0.00
R5629:Mfn1	UTSW	3	32561510	missense	possibly damaging	0.83
R6110:Mfn1	UTSW	3	32563024	missense	probably benign	0.01
R6114:Mfn1	UTSW	3	32563836	missense	probably damaging	1.00
R6560:Mfn1	UTSW	3	32569516	missense	probably damaging	0.96
R6891:Mfn1	UTSW	3	32577103	missense	possibly damaging	0.49
R7053:Mfn1	UTSW	3	32531965	missense	probably benign	0.00
R7071:Mfn1	UTSW	3	32568395	missense	probably benign	0.00
R7182:Mfn1	UTSW	3	32564220	missense	probably damaging	1.00
R8190:Mfn1	UTSW	3	32568389	missense	possibly damaging	0.88
Z1177:Mfn1	UTSW	3	32564291	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGATGTCCCAGTGATAAAGAGC -3'
(R):5'- TTCCTGTCAAGTATTAGCTCACAG -3'

Sequencing Primer
(F):5'- AGTTGGGCTTACTGCTACACAC -3'
(R):5'- TTAGCTCACAGAAGTTGACAAGC -3'

Posted On

2015-05-15