Mutagenetix > Incidental Mutation

Incidental Mutation 'R1665:Mfn1'

187089

Institutional Source

Beutler Lab

Gene Symbol

Mfn1

Ensembl Gene

ENSMUSG00000027668

Gene Name

mitofusin 1

Synonyms

D3Ertd265e, 6330416C07Rik, HR2, 2310002F04Rik

MMRRC Submission

039701-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1665 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32583614-32633388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 32588471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 66 (V66G)

Ref Sequence

ENSEMBL: ENSMUSP00000117411 (fasta)

Gene Model

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

AlphaFold

Q811U4

Predicted Effect

probably benign
Transcript: ENSMUST00000091257
AA Change: V66G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000088801
Gene: ENSMUSG00000027668
AA Change: V66G

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
AA Change: V66G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113251
Gene: ENSMUSG00000027668
AA Change: V66G

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
AA Change: V66G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117411
Gene: ENSMUSG00000027668
AA Change: V66G

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

probably benign
Transcript: ENSMUST00000147350
AA Change: V66G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116380
Gene: ENSMUSG00000027668
AA Change: V66G

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

100% (87/87)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,596,816 (GRCm39)	G423E	probably damaging	Het
Acox3	A	T	5: 35,760,371 (GRCm39)	H429L	probably damaging	Het
Afg1l	T	A	10: 42,302,573 (GRCm39)	K142N	probably damaging	Het
Aldh1a7	T	C	19: 20,704,825 (GRCm39)	I18V	probably benign	Het
Angel2	T	C	1: 190,669,664 (GRCm39)	Y115H	probably damaging	Het
Bsg	T	G	10: 79,547,352 (GRCm39)	N261K	probably damaging	Het
C2cd2l	A	T	9: 44,228,072 (GRCm39)	V83E	probably benign	Het
Caml	C	A	13: 55,779,784 (GRCm39)	L286I	probably benign	Het
Ccdc125	A	G	13: 100,830,081 (GRCm39)	I284V	probably benign	Het
Ces2a	G	A	8: 105,464,187 (GRCm39)		probably benign	Het
Cfap61	T	C	2: 145,877,239 (GRCm39)		probably null	Het
Creg2	C	T	1: 39,662,372 (GRCm39)	W253*	probably null	Het
Csmd3	T	C	15: 47,560,185 (GRCm39)	T2293A	probably damaging	Het
Cttnbp2	A	T	6: 18,434,982 (GRCm39)	I292K	probably benign	Het
Dab2ip	T	A	2: 35,610,290 (GRCm39)	M770K	probably damaging	Het
Dct	T	A	14: 118,271,663 (GRCm39)	D389V	probably damaging	Het
Dnah17	A	T	11: 118,012,321 (GRCm39)		probably benign	Het
Dnah6	T	C	6: 73,101,761 (GRCm39)	E1921G	probably benign	Het
Efcab3	A	G	11: 104,611,940 (GRCm39)	K594R	probably benign	Het
Ehmt1	A	G	2: 24,767,476 (GRCm39)	S272P	probably damaging	Het
Ero1b	T	C	13: 12,594,142 (GRCm39)		probably null	Het
Fnip2	A	G	3: 79,422,456 (GRCm39)	F108S	probably benign	Het
Foxb1	G	A	9: 69,667,104 (GRCm39)	A142V	probably damaging	Het
Fras1	A	T	5: 96,746,768 (GRCm39)	S613C	probably damaging	Het
Gm7276	C	A	18: 77,273,266 (GRCm39)		probably benign	Het
Gnb4	A	C	3: 32,644,188 (GRCm39)	L152*	probably null	Het
H1f7	G	T	15: 98,154,796 (GRCm39)	Q118K	probably benign	Het
Hdac7	A	G	15: 97,704,406 (GRCm39)	L119P	probably damaging	Het
Hsd17b4	G	A	18: 50,293,282 (GRCm39)	E274K	probably benign	Het
Htr4	T	C	18: 62,545,305 (GRCm39)	I30T	probably damaging	Het
Ikzf2	T	A	1: 69,577,973 (GRCm39)	Y512F	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Klhl22	C	A	16: 17,594,352 (GRCm39)	D160E	probably benign	Het
Kpna6	T	A	4: 129,551,264 (GRCm39)	R80S	probably benign	Het
Lclat1	A	G	17: 73,494,999 (GRCm39)	E142G	probably damaging	Het
Lrig3	T	C	10: 125,833,570 (GRCm39)	Y349H	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1b	T	A	13: 99,568,437 (GRCm39)	N1428I	unknown	Het
Map3k19	T	A	1: 127,745,393 (GRCm39)	T1354S	possibly damaging	Het
Med13l	T	A	5: 118,887,813 (GRCm39)	W1696R	probably damaging	Het
Mllt10	A	T	2: 18,213,601 (GRCm39)	Q459L	possibly damaging	Het
Morc2a	G	A	11: 3,625,885 (GRCm39)	V162M	probably benign	Het
Muc15	C	T	2: 110,564,243 (GRCm39)	Q260*	probably null	Het
Nfkb1	T	C	3: 135,300,718 (GRCm39)	H616R	probably damaging	Het
Nr2c1	T	A	10: 94,024,045 (GRCm39)	W417R	probably damaging	Het
Or10a2	T	C	7: 106,673,481 (GRCm39)	S149P	probably damaging	Het
Or13a26	G	T	7: 140,284,707 (GRCm39)	C181F	probably damaging	Het
Or4g16	T	C	2: 111,137,116 (GRCm39)	C189R	probably damaging	Het
Or4k39	T	C	2: 111,239,098 (GRCm39)	Y113H	probably damaging	Het
Or5b121	A	T	19: 13,507,202 (GRCm39)	H99L	probably damaging	Het
Or8c10	C	T	9: 38,278,862 (GRCm39)	H7Y	probably benign	Het
Pde10a	A	G	17: 9,117,702 (GRCm39)	D26G	probably damaging	Het
Pi15	G	T	1: 17,691,726 (GRCm39)	C176F	probably damaging	Het
Pou2f2	T	A	7: 24,792,149 (GRCm39)	T569S	possibly damaging	Het
Prf1	A	C	10: 61,138,666 (GRCm39)	E208A	probably benign	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Rc3h1	T	A	1: 160,786,993 (GRCm39)	V796E	probably benign	Het
Rgl1	T	C	1: 152,409,326 (GRCm39)	Y503C	probably damaging	Het
Ripk3	T	A	14: 56,023,808 (GRCm39)	H1L	probably benign	Het
Ryr1	C	T	7: 28,735,503 (GRCm39)	D4064N	probably damaging	Het
Sec63	T	A	10: 42,674,724 (GRCm39)		probably null	Het
Slco1a4	T	G	6: 141,785,303 (GRCm39)	M96L	possibly damaging	Het
Slit3	A	T	11: 35,125,733 (GRCm39)	R137S	possibly damaging	Het
Smad1	T	C	8: 80,098,658 (GRCm39)	E52G	probably damaging	Het
Srd5a2	A	T	17: 74,328,476 (GRCm39)	W201R	probably damaging	Het
Steap1	A	T	5: 5,786,498 (GRCm39)	L313Q	probably damaging	Het
Syt2	C	A	1: 134,675,358 (GRCm39)	A403D	probably damaging	Het
Tax1bp1	T	A	6: 52,713,897 (GRCm39)	S225R	probably benign	Het
Thap3	C	T	4: 152,070,161 (GRCm39)	V78M	probably damaging	Het
Thoc5	A	G	11: 4,869,792 (GRCm39)	K446R	probably benign	Het
Timmdc1	A	C	16: 38,331,079 (GRCm39)		probably null	Het
Tm6sf2	G	T	8: 70,531,580 (GRCm39)		probably benign	Het
Tmem126b	G	T	7: 90,125,179 (GRCm39)	A2E	probably damaging	Het
Trim9	T	A	12: 70,301,887 (GRCm39)	R584W	probably damaging	Het
Ttn	C	A	2: 76,661,200 (GRCm39)		probably benign	Het
Vmn1r25	A	T	6: 57,955,446 (GRCm39)	I281N	probably damaging	Het
Wdr59	A	G	8: 112,205,994 (GRCm39)	F553S	probably damaging	Het
Zc3h4	A	G	7: 16,163,505 (GRCm39)	M575V	unknown	Het
Zfp53	A	G	17: 21,729,766 (GRCm39)	T600A	probably damaging	Het
Zic5	A	G	14: 122,696,939 (GRCm39)	S559P	unknown	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
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'- GGCAGGATAATCCTTTCAGAGGGC -3'
(R):5'- CTTGACCAGGCAGTAGTGACACAG -3'

Sequencing Primer
(F):5'- GGATAATCCTTTCAGAGGGCATTTAC -3'
(R):5'- gaaggaaggaaggaaggaagg -3'

Posted On

2014-05-09