Mutagenetix > Incidental Mutation

Incidental Mutation 'R0571:Mfn1'

46438

Institutional Source

Beutler Lab

Gene Symbol

Mfn1

Ensembl Gene

ENSMUSG00000027668

Gene Name

mitofusin 1

Synonyms

D3Ertd265e, 6330416C07Rik, HR2, 2310002F04Rik

MMRRC Submission

038762-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0571 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32583614-32633388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32615621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 328 (I328T)

Ref Sequence

ENSEMBL: ENSMUSP00000113251 (fasta)

Gene Model

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

AlphaFold

Q811U4

Predicted Effect

probably damaging
Transcript: ENSMUST00000091257
AA Change: I328T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088801
Gene: ENSMUSG00000027668
AA Change: I328T

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: I328T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113251
Gene: ENSMUSG00000027668
AA Change: I328T

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 benign
Transcript: ENSMUST00000151320

SMART Domains

Protein: ENSMUSP00000120960
Gene: ENSMUSG00000027668

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

Meta Mutation Damage Score

0.9248

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.7%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	C	T	14: 54,500,706 (GRCm39)	T165I	possibly damaging	Het
Acsl5	A	G	19: 55,277,343 (GRCm39)		probably benign	Het
Actl6b	C	A	5: 137,565,046 (GRCm39)		probably benign	Het
Atg13	T	C	2: 91,509,063 (GRCm39)		probably benign	Het
Cabyr	A	G	18: 12,883,909 (GRCm39)	E132G	probably damaging	Het
Cadps2	C	T	6: 23,583,411 (GRCm39)	V389I	probably damaging	Het
Capn2	C	T	1: 182,298,325 (GRCm39)	V647I	probably benign	Het
Card10	G	T	15: 78,671,601 (GRCm39)	P621Q	possibly damaging	Het
Catsperb	C	G	12: 101,569,033 (GRCm39)	H902D	possibly damaging	Het
Cers3	A	G	7: 66,435,805 (GRCm39)	M255V	possibly damaging	Het
Cfh	T	C	1: 140,030,071 (GRCm39)		probably null	Het
Chd3	A	C	11: 69,252,495 (GRCm39)		probably null	Het
Chpf2	G	T	5: 24,795,425 (GRCm39)	R316L	probably damaging	Het
Clca3a1	T	A	3: 144,713,550 (GRCm39)	N694Y	probably damaging	Het
Cplane1	A	G	15: 8,289,277 (GRCm39)	D2909G	unknown	Het
Ctbp2	G	A	7: 132,616,534 (GRCm39)	L44F	probably damaging	Het
Cttnbp2	T	C	6: 18,381,102 (GRCm39)	M1365V	probably benign	Het
D130052B06Rik	G	A	11: 33,573,922 (GRCm39)	R173H	probably benign	Het
Dchs1	A	G	7: 105,421,203 (GRCm39)	F406L	probably damaging	Het
Ddx43	T	A	9: 78,321,145 (GRCm39)	N384K	possibly damaging	Het
Drd5	G	A	5: 38,477,270 (GRCm39)	V88M	probably damaging	Het
Eefsec	A	T	6: 88,274,881 (GRCm39)	F361Y	probably benign	Het
Epb41	T	C	4: 131,717,215 (GRCm39)	D313G	probably damaging	Het
Etl4	T	C	2: 20,748,580 (GRCm39)	M104T	probably damaging	Het
Fabp7	A	T	10: 57,661,637 (GRCm39)	T37S	probably benign	Het
Fam186b	T	C	15: 99,184,834 (GRCm39)	T30A	probably benign	Het
Fam83d	G	A	2: 158,627,611 (GRCm39)	W433*	probably null	Het
Fmnl2	A	T	2: 52,944,503 (GRCm39)	T161S	probably benign	Het
Ghsr	C	T	3: 27,426,165 (GRCm39)	R74C	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Gtpbp4	A	T	13: 9,040,722 (GRCm39)		probably benign	Het
Hamp2	A	G	7: 30,623,511 (GRCm39)	L17P	possibly damaging	Het
Heatr1	C	A	13: 12,445,121 (GRCm39)	S1581R	probably damaging	Het
Hpf1	T	C	8: 61,353,147 (GRCm39)	V176A	probably benign	Het
Hydin	T	A	8: 111,240,735 (GRCm39)		probably null	Het
Ighg2c	G	A	12: 113,252,382 (GRCm39)	Q57*	probably null	Het
Itgb4	A	G	11: 115,870,594 (GRCm39)	N141S	possibly damaging	Het
Kif13b	G	T	14: 64,988,977 (GRCm39)	R786L	probably damaging	Het
Lhx3	C	A	2: 26,091,136 (GRCm39)	W391L	probably damaging	Het
Map1s	T	A	8: 71,365,551 (GRCm39)	V152D	probably damaging	Het
Map4	T	C	9: 109,865,834 (GRCm39)	M608T	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Mif-ps9	G	A	19: 56,743,675 (GRCm39)		noncoding transcript	Het
Myh4	A	T	11: 67,141,157 (GRCm39)	I740F	possibly damaging	Het
Neo1	A	G	9: 58,893,069 (GRCm39)	V191A	probably benign	Het
Nfatc4	T	C	14: 56,067,485 (GRCm39)	V565A	probably damaging	Het
Nrxn2	G	C	19: 6,523,563 (GRCm39)	E525D	probably damaging	Het
Or12k8	T	C	2: 36,975,346 (GRCm39)	H138R	probably benign	Het
Pcdhb12	A	T	18: 37,570,261 (GRCm39)	D469V	probably damaging	Het
Pcdhb6	G	T	18: 37,468,167 (GRCm39)	V363L	probably benign	Het
Pkd1l2	T	C	8: 117,808,957 (GRCm39)	T78A	probably benign	Het
Primpol	T	G	8: 47,034,674 (GRCm39)	D418A	probably damaging	Het
Rbm12b1	G	A	4: 12,146,248 (GRCm39)	S740N	probably benign	Het
Rpe65	T	C	3: 159,305,986 (GRCm39)	L15P	probably damaging	Het
Rxrb	CGCGGCGGCGGCGGCGGCGGC	CGCGGCGGCGGCGGCGGC	17: 34,251,106 (GRCm39)		probably benign	Het
Sectm1a	A	G	11: 120,959,928 (GRCm39)		probably benign	Het
Sft2d1	C	A	17: 8,545,782 (GRCm39)		probably benign	Het
Slc22a18	A	G	7: 143,045,598 (GRCm39)		probably benign	Het
Slu7	G	A	11: 43,332,405 (GRCm39)		probably null	Het
Smc4	T	C	3: 68,931,622 (GRCm39)	V572A	probably damaging	Het
Spire2	T	A	8: 124,080,855 (GRCm39)	I33N	probably damaging	Het
Tbck	T	A	3: 132,458,403 (GRCm39)	C678S	probably damaging	Het
Tnrc6b	T	C	15: 80,797,539 (GRCm39)	V1362A	probably damaging	Het
Ttn	T	C	2: 76,570,326 (GRCm39)	K25110E	possibly damaging	Het
Ugt2b35	A	G	5: 87,148,793 (GRCm39)	S15G	possibly damaging	Het
Upf3a	T	A	8: 13,842,184 (GRCm39)	I200K	probably damaging	Het
Vill	G	C	9: 118,899,701 (GRCm39)	G295A	possibly damaging	Het
Vmn1r191	A	T	13: 22,363,217 (GRCm39)	V179D	probably damaging	Het
Vmn2r74	T	C	7: 85,601,629 (GRCm39)	T670A	probably damaging	Het
Zfp169	T	C	13: 48,643,166 (GRCm39)	T654A	possibly damaging	Het
Zfp646	A	G	7: 127,481,138 (GRCm39)	E1105G	probably damaging	Het
Zyg11b	A	T	4: 108,117,239 (GRCm39)	Y334N	probably damaging	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
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
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'- CTGACCCTGAGAAGAGTGCCATTTG -3'
(R):5'- AGCCCTGAAGACTGACGCAATGAC -3'

Sequencing Primer
(F):5'- CAGCACATTACTGTGTGAAGATGC -3'
(R):5'- CTGACGCAATGACAGGAACTG -3'

Posted On

2013-06-11