Mutagenetix > Incidental Mutation

Incidental Mutation 'R4897:Mfn1'

375796

Institutional Source

Beutler Lab

Gene Symbol

Mfn1

Ensembl Gene

ENSMUSG00000027668

Gene Name

mitofusin 1

Synonyms

D3Ertd265e, 6330416C07Rik, HR2, 2310002F04Rik

MMRRC Submission

042501-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4897 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32583614-32633388 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 32600711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116380 (fasta)

Gene Model

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

AlphaFold

Q811U4

Predicted Effect

probably benign
Transcript: ENSMUST00000091257

SMART Domains

Protein: ENSMUSP00000088801
Gene: ENSMUSG00000027668

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 benign
Transcript: ENSMUST00000118286

SMART Domains

Protein: ENSMUSP00000113251
Gene: ENSMUSG00000027668

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 benign
Transcript: ENSMUST00000137565

SMART Domains

Protein: ENSMUSP00000117411
Gene: ENSMUSG00000027668

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 benign
Transcript: ENSMUST00000147350

SMART Domains

Protein: ENSMUSP00000116380
Gene: ENSMUSG00000027668

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (79/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	C	A	2: 35,266,309 (GRCm39)	M120I	probably damaging	Het
4933427D14Rik	A	T	11: 72,082,342 (GRCm39)	L328Q	probably damaging	Het
Adgrv1	A	C	13: 81,709,704 (GRCm39)		probably null	Het
Ankrd46	A	T	15: 36,484,279 (GRCm39)		probably benign	Het
Arhgef18	A	T	8: 3,494,979 (GRCm39)	M413L	probably benign	Het
Atp6v1e1	G	A	6: 120,781,044 (GRCm39)	T87M	probably null	Het
Bap1	T	C	14: 30,980,402 (GRCm39)		probably benign	Het
Brf1	A	G	12: 112,929,507 (GRCm39)	L385P	probably benign	Het
C1qtnf1	A	T	11: 118,338,938 (GRCm39)	N203Y	probably damaging	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Ccnjl	A	C	11: 43,470,718 (GRCm39)	D162A	probably damaging	Het
Cd248	A	C	19: 5,119,195 (GRCm39)	I348L	probably benign	Het
Cdc20	T	C	4: 118,293,029 (GRCm39)	T265A	probably benign	Het
Cdca5	T	A	19: 6,140,427 (GRCm39)	L196*	probably null	Het
Cdk4	T	A	10: 126,900,444 (GRCm39)		probably benign	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Clec4b2	G	T	6: 123,177,999 (GRCm39)	E105*	probably null	Het
Dapk1	T	A	13: 60,909,600 (GRCm39)	D1404E	probably benign	Het
Dnah1	T	C	14: 30,989,496 (GRCm39)	Y3308C	probably damaging	Het
Dnah17	A	C	11: 117,969,419 (GRCm39)	Y2260D	probably damaging	Het
Dock8	T	G	19: 25,159,001 (GRCm39)	S1720A	probably benign	Het
Erc1	A	G	6: 119,754,947 (GRCm39)		probably null	Het
Ergic1	A	G	17: 26,848,597 (GRCm39)	I66V	probably benign	Het
Fam186a	T	C	15: 99,843,158 (GRCm39)	T1029A	possibly damaging	Het
Fat4	A	T	3: 39,034,781 (GRCm39)	Y2811F	probably damaging	Het
Flt3	A	G	5: 147,306,110 (GRCm39)	M310T	probably damaging	Het
Ganab	T	A	19: 8,892,355 (GRCm39)	C844S	probably benign	Het
Gas2l2	C	A	11: 83,320,041 (GRCm39)	V72F	probably damaging	Het
Gm14401	T	A	2: 176,778,573 (GRCm39)	C220S	probably damaging	Het
Hmmr	A	T	11: 40,619,261 (GRCm39)	V73E	probably benign	Het
Idi2l	T	G	13: 8,990,637 (GRCm39)		probably benign	Het
Ifih1	G	T	2: 62,465,358 (GRCm39)		probably benign	Het
Jak3	A	G	8: 72,138,048 (GRCm39)	E833G	probably damaging	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Ldb1	G	A	19: 46,023,132 (GRCm39)	A217V	probably benign	Het
Lrrc8c	A	G	5: 105,755,955 (GRCm39)	T577A	probably benign	Het
Mki67	G	A	7: 135,298,474 (GRCm39)	P2187S	probably damaging	Het
Mrc1	T	A	2: 14,323,952 (GRCm39)	D1096E	probably benign	Het
Msi1	A	G	5: 115,573,654 (GRCm39)		probably benign	Het
Msto1	T	A	3: 88,819,559 (GRCm39)	I152F	probably benign	Het
Myo9a	A	G	9: 59,803,800 (GRCm39)	R2060G	probably benign	Het
Nnt	A	T	13: 119,541,107 (GRCm39)	C44*	probably null	Het
Nup210l	A	G	3: 90,100,378 (GRCm39)	D1468G	probably damaging	Het
Or1j16	T	C	2: 36,530,906 (GRCm39)	L285P	probably damaging	Het
Or4c10b	A	G	2: 89,711,476 (GRCm39)	E102G	probably benign	Het
Or5d46	C	A	2: 88,174,686 (GRCm39)	C129F	possibly damaging	Het
Or7a40	T	C	16: 16,491,482 (GRCm39)	D121G	probably damaging	Het
P2rx3	G	A	2: 84,855,270 (GRCm39)	T62I	probably damaging	Het
Pabpc4l	G	T	3: 46,401,578 (GRCm39)	T22K	probably damaging	Het
Pcdha7	A	G	18: 37,108,646 (GRCm39)	D557G	probably damaging	Het
Pcdhb20	A	G	18: 37,639,298 (GRCm39)	K608R	possibly damaging	Het
Pcnx1	A	G	12: 81,964,939 (GRCm39)	S369G	probably damaging	Het
Plod1	T	C	4: 148,004,736 (GRCm39)	I455V	probably benign	Het
Prune2	A	T	19: 17,099,219 (GRCm39)	E1574D	probably benign	Het
Ptar1	T	A	19: 23,680,472 (GRCm39)	L96H	probably damaging	Het
Rabgap1	T	C	2: 37,450,583 (GRCm39)	S904P	probably benign	Het
Rps6ka4	C	T	19: 6,815,467 (GRCm39)	V176I	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Runx1t1	T	A	4: 13,771,459 (GRCm39)	M1K	probably null	Het
Serinc4	T	A	2: 121,282,905 (GRCm39)	Y419F	probably damaging	Het
Serpina12	A	T	12: 104,004,056 (GRCm39)	M192K	possibly damaging	Het
Spata21	T	A	4: 140,832,261 (GRCm39)	M474K	probably damaging	Het
Stpg1	T	C	4: 135,246,676 (GRCm39)	S135P	possibly damaging	Het
Tdrkh	A	G	3: 94,336,671 (GRCm39)	D481G	probably damaging	Het
Ube2e1	A	C	14: 18,285,268 (GRCm38)	S68R	probably damaging	Het
Vcpip1	A	C	1: 9,817,572 (GRCm39)	N270K	probably damaging	Het
Vmn2r79	T	C	7: 86,650,675 (GRCm39)	F154L	probably benign	Het
Vwa3b	A	G	1: 37,153,684 (GRCm39)		probably benign	Het
Xdh	C	A	17: 74,207,703 (GRCm39)	V885L	probably benign	Het
Zfp141	A	T	7: 42,125,629 (GRCm39)	V281D	probably benign	Het
Zfp317	T	A	9: 19,558,143 (GRCm39)	I119N	probably benign	Het
Zfp345	G	A	2: 150,314,608 (GRCm39)	R310C	probably benign	Het
Zfp760	G	A	17: 21,942,229 (GRCm39)	C468Y	probably benign	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
R2260:Mfn1	UTSW	3	32,617,575 (GRCm39)	nonsense	probably null
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
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'- CTTGGGGCTATTATCGAACAGTC -3'
(R):5'- CGCAGACAACACTGTACATGAG -3'

Sequencing Primer
(F):5'- CGAACAGTCGCTTTTATGTCTAGAC -3'
(R):5'- TGTACATGAGTGCAGTTCAAAC -3'

Posted On

2016-03-17