Mutagenetix > Incidental Mutation

Incidental Mutation 'R7182:Mfn1'

559026

Institutional Source

Beutler Lab

Gene Symbol

Mfn1

Ensembl Gene

ENSMUSG00000027668

Gene Name

mitofusin 1

Synonyms

6330416C07Rik, HR2, D3Ertd265e, 2310002F04Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32529465-32579239 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32564220 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 526 (L526Q)

Ref Sequence

ENSEMBL: ENSMUSP00000088801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091257] [ENSMUST00000118286] [ENSMUST00000151320]

AlphaFold

Q811U4

PDB Structure

Mitofusin domain HR2 V686M/I708M mutant [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000091257
AA Change: L526Q

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

SMART Domains

Protein: ENSMUSP00000088801
Gene: ENSMUSG00000027668
AA Change: L526Q

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: L526Q

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

SMART Domains

Protein: ENSMUSP00000113251
Gene: ENSMUSG00000027668
AA Change: L526Q

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

probably damaging
Transcript: ENSMUST00000151320
AA Change: L174Q

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

SMART Domains

Protein: ENSMUSP00000120960
Gene: ENSMUSG00000027668
AA Change: L174Q

Domain	Start	End	E-Value	Type
low complexity region	42	53	N/A	INTRINSIC
Pfam:Fzo_mitofusin	215	319	1.2e-56	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (70/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,849,714	V323A	unknown	Het
AC117241.1	A	G	17: 7,352,688	V158A	unknown	Het
Acadm	A	G	3: 153,941,881		probably null	Het
Adcy10	T	G	1: 165,543,470		probably null	Het
Aldh6a1	C	T	12: 84,441,831	A94T	probably benign	Het
Ano2	T	A	6: 125,790,293	L229Q	probably damaging	Het
Cacna1h	C	T	17: 25,377,655	R1828H	probably damaging	Het
Ccdc33	A	T	9: 58,034,173		probably null	Het
Cep112	A	C	11: 108,682,844	D6A	probably benign	Het
Chd9	T	C	8: 91,006,622	F1373S	unknown	Het
Cog5	T	C	12: 31,685,708	L158P	probably damaging	Het
Col6a3	G	A	1: 90,803,678	Q1618*	probably null	Het
Dlg5	A	G	14: 24,244,856	V3A		Het
Dnah7a	T	A	1: 53,620,461		probably null	Het
Dpp10	A	T	1: 123,341,151	H716Q	probably benign	Het
Epor	A	G	9: 21,963,329	F35L	probably benign	Het
Ergic1	A	T	17: 26,654,882	Y92F		Het
Fam71a	C	T	1: 191,163,351	R365H	probably damaging	Het
Fam98a	G	A	17: 75,539,018	Q273*	probably null	Het
Fhdc1	G	A	3: 84,448,850	T429I	probably damaging	Het
Fmnl2	T	A	2: 53,107,441	L468Q	unknown	Het
Fmnl3	C	T	15: 99,321,782	R695Q	probably damaging	Het
Gabrg2	T	C	11: 41,920,506	M271V	probably damaging	Het
Gk5	G	T	9: 96,119,526	V26L	possibly damaging	Het
Gm14412	A	C	2: 177,315,615	N162K	probably benign	Het
Gm3604	T	C	13: 62,371,875	D22G	probably damaging	Het
Gm5565	G	T	5: 146,158,055	H294N	probably benign	Het
Hsf2	T	A	10: 57,505,176	D287E	possibly damaging	Het
Impdh2	G	A	9: 108,563,208	R231H	possibly damaging	Het
Irak3	T	C	10: 120,166,511	H234R	probably damaging	Het
Lrba	GTTCCCTTC	GTTC	3: 86,741,458		probably null	Het
Lrch3	T	A	16: 32,993,779	D551E	probably benign	Het
Manba	A	T	3: 135,567,513	N736I	probably benign	Het
Map2	A	G	1: 66,412,653	D234G	possibly damaging	Het
Mdk	C	A	2: 91,930,852	K121N	unknown	Het
Mfsd2b	A	G	12: 4,866,157		probably null	Het
Mnat1	G	T	12: 73,230,678	E233*	probably null	Het
Mtmr4	T	C	11: 87,604,605		probably null	Het
Mtrf1	A	G	14: 79,423,464	E432G	possibly damaging	Het
Muc5b	C	T	7: 141,842,645	R165C	unknown	Het
Naip6	T	A	13: 100,316,149	I135F	probably benign	Het
Nod2	A	G	8: 88,663,832	T256A	probably benign	Het
Notch4	T	A	17: 34,583,499	V1298E	probably damaging	Het
Nudc	G	T	4: 133,534,465	D169E	possibly damaging	Het
Obscn	A	T	11: 59,035,101	I5602N	probably damaging	Het
Olfr1468-ps1	G	A	19: 13,375,844	G294E	unknown	Het
Osbpl10	G	A	9: 115,067,251	D18N	probably damaging	Het
Pigk	G	A	3: 152,722,551	V72I	possibly damaging	Het
Prl8a6	C	T	13: 27,437,170	E26K	probably damaging	Het
Prpf8	A	G	11: 75,490,727	Y318C	possibly damaging	Het
Rab13	A	G	3: 90,224,763	D159G	possibly damaging	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Ryr2	T	C	13: 11,759,757	H1171R	probably benign	Het
Scn4a	T	A	11: 106,330,308	I842F	probably benign	Het
Scnm1	A	T	3: 95,133,854	N14K	possibly damaging	Het
Serinc1	A	T	10: 57,524,361	I137N	probably benign	Het
Slc30a3	T	C	5: 31,086,825	Q371R	probably benign	Het
Slc30a3	A	C	5: 31,089,670	M103R	probably damaging	Het
Slco1a1	A	T	6: 141,911,839	C589S	probably damaging	Het
Slco1b2	A	G	6: 141,656,930	Y203C	probably damaging	Het
Spty2d1	A	T	7: 46,998,523	D219E	probably benign	Het
Svep1	A	T	4: 58,043,991	S3552T	probably benign	Het
Tmem62	A	G	2: 121,004,743	I516M	probably benign	Het
Trim61	A	T	8: 65,013,614	S332T	probably damaging	Het
Trmt10b	A	C	4: 45,308,520	T227P	probably benign	Het
Trpc3	T	C	3: 36,655,109	Q406R	probably benign	Het
Ttc30b	A	T	2: 75,937,949	Y153*	probably null	Het
Ush2a	A	T	1: 188,753,543	Y2950F	probably benign	Het
Usp32	C	T	11: 85,040,170	G478D	probably benign	Het
Wdfy3	A	G	5: 101,943,892	L527P	possibly damaging	Het
Wdr73	A	G	7: 80,893,678	V163A	possibly 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
R4079:Mfn1	UTSW	3	32542849	missense	probably damaging	1.00
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
R8190:Mfn1	UTSW	3	32568389	missense	possibly damaging	0.88
R8998:Mfn1	UTSW	3	32569534	missense	possibly damaging	0.79
R8999:Mfn1	UTSW	3	32569534	missense	possibly damaging	0.79
R9255:Mfn1	UTSW	3	32544138	missense	possibly damaging	0.91
R9619:Mfn1	UTSW	3	32574329	missense	possibly damaging	0.50
Z1177:Mfn1	UTSW	3	32564291	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCATTGTTTGGAAGGCAAGAC -3'
(R):5'- CGGCTTTATGAGACAGACATACAC -3'

Sequencing Primer
(F):5'- GCATTGTTTGGAAGGCAAGACATTAC -3'
(R):5'- ACAGACATACACAAATAAATAGGCAG -3'

Posted On

2019-06-26