Mutagenetix > Incidental Mutation

Incidental Mutation 'R2260:Mfn1'

243706

Institutional Source

Beutler Lab

Gene Symbol

Mfn1

Ensembl Gene

ENSMUSG00000027668

Gene Name

mitofusin 1

Synonyms

D3Ertd265e, 6330416C07Rik, HR2, 2310002F04Rik

MMRRC Submission

040260-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2260 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32583614-32633388 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 32617575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 74 (E74*)

Ref Sequence

ENSEMBL: ENSMUSP00000120960 (fasta)

Gene Model

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

AlphaFold

Q811U4

Predicted Effect

probably null
Transcript: ENSMUST00000091257
AA Change: E426*

SMART Domains

Protein: ENSMUSP00000088801
Gene: ENSMUSG00000027668
AA Change: E426*

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 null
Transcript: ENSMUST00000118286
AA Change: E426*

SMART Domains

Protein: ENSMUSP00000113251
Gene: ENSMUSG00000027668
AA Change: E426*

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: ENSMUST00000140328

Predicted Effect

probably null
Transcript: ENSMUST00000151320
AA Change: E74*

SMART Domains

Protein: ENSMUSP00000120960
Gene: ENSMUSG00000027668
AA Change: E74*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194384

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,354,978 (GRCm39)	N1252I	probably damaging	Het
Acot5	A	T	12: 84,122,643 (GRCm39)	H409L	possibly damaging	Het
Adgrv1	A	T	13: 81,716,493 (GRCm39)	V840E	probably damaging	Het
Adnp2	A	T	18: 80,171,664 (GRCm39)	M915K	probably benign	Het
Cd101	G	C	3: 100,924,261 (GRCm39)	L393V	possibly damaging	Het
Cd177	A	G	7: 24,455,661 (GRCm39)	V287A	possibly damaging	Het
Cdc37l1	A	T	19: 28,984,448 (GRCm39)	K194N	probably benign	Het
Cep126	T	C	9: 8,101,749 (GRCm39)	T262A	possibly damaging	Het
Chit1	A	G	1: 134,078,865 (GRCm39)	S392G	probably benign	Het
Col11a2	A	G	17: 34,258,651 (GRCm39)	H8R	probably benign	Het
Dusp12	C	T	1: 170,708,580 (GRCm39)	R120H	probably damaging	Het
Eln	C	A	5: 134,758,508 (GRCm39)	A126S	unknown	Het
Entpd2	C	T	2: 25,288,099 (GRCm39)	P108S	probably damaging	Het
Fkbp6	C	T	5: 135,366,468 (GRCm39)		probably null	Het
Ftcd	T	A	10: 76,423,893 (GRCm39)		probably null	Het
Gdf10	T	C	14: 33,654,234 (GRCm39)	L247P	probably damaging	Het
Gigyf1	C	A	5: 137,518,594 (GRCm39)	A215E	possibly damaging	Het
Gja4	C	A	4: 127,206,623 (GRCm39)	D47Y	probably damaging	Het
Gsn	G	A	2: 35,180,349 (GRCm39)	G130E	probably damaging	Het
Hrc	C	A	7: 44,986,105 (GRCm39)	R419S	possibly damaging	Het
Itfg1	C	T	8: 86,449,306 (GRCm39)	C576Y	probably damaging	Het
Lama1	G	T	17: 68,044,502 (GRCm39)	A134S	probably damaging	Het
Larp4	T	G	15: 99,895,277 (GRCm39)	F283L	possibly damaging	Het
Marveld2	A	G	13: 100,748,978 (GRCm39)	S34P	probably benign	Het
Mettl18	T	A	1: 163,824,394 (GRCm39)	D238E	probably benign	Het
Mfn2	C	A	4: 147,979,063 (GRCm39)	E90*	probably null	Het
Mill2	T	A	7: 18,590,413 (GRCm39)	D164E	probably benign	Het
Ncapd3	A	G	9: 26,967,368 (GRCm39)	D568G	probably benign	Het
Nt5c1b	A	T	12: 10,424,965 (GRCm39)	R170S	probably damaging	Het
Or10ak11	T	C	4: 118,687,359 (GRCm39)	I93V	probably damaging	Het
Or4c100	G	A	2: 88,356,730 (GRCm39)	V268I	possibly damaging	Het
Or5bw2	A	T	7: 6,573,022 (GRCm39)	I11F	probably damaging	Het
Or8d1b	T	C	9: 38,887,296 (GRCm39)	V108A	probably benign	Het
Pald1	G	A	10: 61,188,750 (GRCm39)	R87W	probably damaging	Het
Paox	T	A	7: 139,713,967 (GRCm39)	Y242*	probably null	Het
Pde2a	A	T	7: 101,133,774 (GRCm39)	D85V	probably damaging	Het
Pitrm1	C	T	13: 6,610,161 (GRCm39)	T411I	probably damaging	Het
Pkd1l3	A	G	8: 110,350,268 (GRCm39)	Q371R	probably benign	Het
Plaat5	C	T	19: 7,590,111 (GRCm39)	R46C	probably damaging	Het
Ptprk	A	G	10: 28,082,145 (GRCm39)	D38G	possibly damaging	Het
Rag2	G	A	2: 101,460,583 (GRCm39)	E298K	probably benign	Het
Rbm12b2	G	A	4: 12,095,061 (GRCm39)	R640H	probably benign	Het
Rcsd1	C	T	1: 165,486,998 (GRCm39)	A72T	probably benign	Het
Rims2	G	T	15: 39,341,962 (GRCm39)	E604*	probably null	Het
Rin2	A	G	2: 145,720,824 (GRCm39)	D719G	probably damaging	Het
Sash1	G	A	10: 8,662,142 (GRCm39)	Q155*	probably null	Het
Tacr1	A	T	6: 82,380,756 (GRCm39)	I56F	probably damaging	Het
Tbc1d4	G	A	14: 101,731,847 (GRCm39)	T455M	probably damaging	Het
Tex24	C	T	8: 27,834,883 (GRCm39)	T137I	probably damaging	Het
Tmem200a	A	C	10: 25,869,313 (GRCm39)	S319A	probably benign	Het
Tmem242	G	T	17: 5,483,745 (GRCm39)	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,681,446 (GRCm39)	R277H	probably benign	Het
Tmprss11f	G	A	5: 86,739,269 (GRCm39)	A4V	probably benign	Het
Triobp	T	G	15: 78,875,640 (GRCm39)		probably null	Het
Tshz2	A	T	2: 169,728,326 (GRCm39)	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,131,183 (GRCm39)	V218A	probably damaging	Het
Vmn2r11	A	T	5: 109,201,657 (GRCm39)	Y282*	probably null	Het
Vps13c	A	G	9: 67,861,142 (GRCm39)	N2891S	probably benign	Het
Xpo5	C	T	17: 46,551,822 (GRCm39)	Q1050*	probably null	Het

Other mutations in Mfn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01155:Mfn1	APN	3	32,596,985 (GRCm39)	missense	probably damaging	1.00
IGL01687:Mfn1	APN	3	32,617,515 (GRCm39)	splice site	probably benign
IGL02743:Mfn1	APN	3	32,628,439 (GRCm39)	missense	probably benign	0.10
PIT4520001:Mfn1	UTSW	3	32,615,695 (GRCm39)	missense	probably benign
R0039:Mfn1	UTSW	3	32,592,416 (GRCm39)	splice site	probably benign
R0571:Mfn1	UTSW	3	32,615,621 (GRCm39)	missense	probably damaging	1.00
R0920:Mfn1	UTSW	3	32,588,385 (GRCm39)	critical splice acceptor site	probably null
R1661:Mfn1	UTSW	3	32,588,471 (GRCm39)	missense	probably benign	0.00
R1665:Mfn1	UTSW	3	32,588,471 (GRCm39)	missense	probably benign	0.00
R2153:Mfn1	UTSW	3	32,596,975 (GRCm39)	missense	probably damaging	1.00
R2156:Mfn1	UTSW	3	32,588,400 (GRCm39)	missense	possibly damaging	0.60
R2420:Mfn1	UTSW	3	32,623,664 (GRCm39)	missense	probably benign	0.21
R3864:Mfn1	UTSW	3	32,617,241 (GRCm39)	missense	possibly damaging	0.89
R4079:Mfn1	UTSW	3	32,596,998 (GRCm39)	missense	probably damaging	1.00
R4162:Mfn1	UTSW	3	32,617,147 (GRCm39)	splice site	probably benign
R4897:Mfn1	UTSW	3	32,600,711 (GRCm39)	intron	probably benign
R5115:Mfn1	UTSW	3	32,618,456 (GRCm39)	critical splice donor site	probably null
R5276:Mfn1	UTSW	3	32,618,354 (GRCm39)	missense	probably benign	0.39
R5590:Mfn1	UTSW	3	32,617,996 (GRCm39)	missense	probably benign	0.00
R5629:Mfn1	UTSW	3	32,615,659 (GRCm39)	missense	possibly damaging	0.83
R6110:Mfn1	UTSW	3	32,617,173 (GRCm39)	missense	probably benign	0.01
R6114:Mfn1	UTSW	3	32,617,985 (GRCm39)	missense	probably damaging	1.00
R6560:Mfn1	UTSW	3	32,623,665 (GRCm39)	missense	probably damaging	0.96
R6891:Mfn1	UTSW	3	32,631,252 (GRCm39)	missense	possibly damaging	0.49
R7053:Mfn1	UTSW	3	32,586,114 (GRCm39)	missense	probably benign	0.00
R7071:Mfn1	UTSW	3	32,622,544 (GRCm39)	missense	probably benign	0.00
R7182:Mfn1	UTSW	3	32,618,369 (GRCm39)	missense	probably damaging	1.00
R8190:Mfn1	UTSW	3	32,622,538 (GRCm39)	missense	possibly damaging	0.88
R8998:Mfn1	UTSW	3	32,623,683 (GRCm39)	missense	possibly damaging	0.79
R8999:Mfn1	UTSW	3	32,623,683 (GRCm39)	missense	possibly damaging	0.79
R9255:Mfn1	UTSW	3	32,598,287 (GRCm39)	missense	possibly damaging	0.91
R9619:Mfn1	UTSW	3	32,628,478 (GRCm39)	missense	possibly damaging	0.50
Z1177:Mfn1	UTSW	3	32,618,440 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCCTGGCCTTGTATTCTGAG -3'
(R):5'- AGTGTGCACGTATTACCAGAG -3'

Sequencing Primer
(F):5'- CCTTGTATTCTGAGTACTGGTAATTC -3'
(R):5'- TGCACGTATTACCAGAGCACGG -3'

Posted On

2014-10-16