Mutagenetix > Incidental Mutation

Incidental Mutation 'R5276:Mfn1'

403923

Institutional Source

Beutler Lab

Gene Symbol

Mfn1

Ensembl Gene

ENSMUSG00000027668

Gene Name

mitofusin 1

Synonyms

D3Ertd265e, 6330416C07Rik, HR2, 2310002F04Rik

MMRRC Submission

042863-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5276 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32583614-32633388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32618354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 169 (V169A)

Ref Sequence

ENSEMBL: ENSMUSP00000120960 (fasta)

Gene Model

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

AlphaFold

Q811U4

Predicted Effect

probably benign
Transcript: ENSMUST00000091257
AA Change: V521A

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000088801
Gene: ENSMUSG00000027668
AA Change: V521A

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: V521A

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113251
Gene: ENSMUSG00000027668
AA Change: V521A

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
AA Change: V169A

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120960
Gene: ENSMUSG00000027668
AA Change: V169A

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 44,023,457 (GRCm39)	F11S	probably benign	Het
Adipor2	T	A	6: 119,334,182 (GRCm39)	I343F	probably damaging	Het
Ahdc1	C	T	4: 132,790,109 (GRCm39)	P450L	possibly damaging	Het
Akna	A	C	4: 63,286,440 (GRCm39)	V1353G	possibly damaging	Het
Baz2b	G	A	2: 59,792,958 (GRCm39)	T390I	probably benign	Het
Btbd7	T	C	12: 102,804,651 (GRCm39)	K130E	probably benign	Het
Cdc42bpa	A	G	1: 179,965,415 (GRCm39)	Y1101C	probably damaging	Het
Crlf2	T	G	5: 109,705,501 (GRCm39)		probably benign	Het
Ddx59	A	T	1: 136,347,186 (GRCm39)	R281S	probably damaging	Het
Dgcr8	T	G	16: 18,101,635 (GRCm39)	T216P	probably benign	Het
Dsg4	A	T	18: 20,579,896 (GRCm39)	I34F	probably benign	Het
Enpp3	A	G	10: 24,685,814 (GRCm39)	S194P	probably damaging	Het
Entpd8	C	T	2: 24,975,057 (GRCm39)	R463W	probably benign	Het
Fam169a	A	G	13: 97,255,004 (GRCm39)	T407A	probably benign	Het
Fam98b	G	T	2: 117,089,779 (GRCm39)	V99F	possibly damaging	Het
Foxn3	T	A	12: 99,162,687 (GRCm39)	K405*	probably null	Het
Gsdmc	T	C	15: 63,673,806 (GRCm39)	T160A	probably benign	Het
Hdac1	T	C	4: 129,422,716 (GRCm39)		probably null	Het
Igfbp1	A	C	11: 7,151,892 (GRCm39)	T232P	probably damaging	Het
Lcor	T	A	19: 41,573,478 (GRCm39)	H744Q	probably damaging	Het
Mertk	G	C	2: 128,643,234 (GRCm39)	G878R	possibly damaging	Het
Metap2	G	T	10: 93,704,784 (GRCm39)	P281H	possibly damaging	Het
Metap2	T	A	10: 93,704,794 (GRCm39)	T278S	probably benign	Het
Mms22l	A	G	4: 24,578,774 (GRCm39)	D751G	probably damaging	Het
Mpl	A	G	4: 118,312,918 (GRCm39)	V138A	probably benign	Het
Myef2	T	A	2: 124,937,641 (GRCm39)	K533N	probably damaging	Het
Mylk3	C	T	8: 86,082,071 (GRCm39)	G309E	probably damaging	Het
Nid1	T	C	13: 13,643,157 (GRCm39)	V365A	probably damaging	Het
Or4d2	A	T	11: 87,784,018 (GRCm39)	I244N	probably damaging	Het
Or5p57	A	T	7: 107,665,423 (GRCm39)	L164*	probably null	Het
Or7d10	C	A	9: 19,831,917 (GRCm39)	N137K	possibly damaging	Het
Or8g19	T	C	9: 39,055,611 (GRCm39)	C72R	probably damaging	Het
Pbrm1	A	G	14: 30,828,141 (GRCm39)	K1323E	probably damaging	Het
Pcdhga12	G	A	18: 37,899,728 (GRCm39)	D187N	possibly damaging	Het
Phrf1	T	C	7: 140,839,196 (GRCm39)		probably benign	Het
Phtf2	A	G	5: 20,977,195 (GRCm39)	V608A	probably benign	Het
Plec	G	A	15: 76,057,638 (GRCm39)	R4122W	probably damaging	Het
Polm	A	G	11: 5,779,393 (GRCm39)	S441P	probably benign	Het
Prrc2b	T	A	2: 32,104,734 (GRCm39)	V1404E	probably benign	Het
Ptger1	T	G	8: 84,395,974 (GRCm39)	S344A	possibly damaging	Het
Rasef	A	T	4: 73,654,004 (GRCm39)	D401E	probably null	Het
Rbfox3	T	C	11: 118,387,178 (GRCm39)	Y312C	probably damaging	Het
Rbm48	A	G	5: 3,634,759 (GRCm39)	C402R	probably benign	Het
Rhbdl3	G	A	11: 80,210,492 (GRCm39)	A82T	probably benign	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Homo
Sidt2	T	A	9: 45,866,075 (GRCm39)	N44Y	probably damaging	Het
Slf2	T	A	19: 44,923,600 (GRCm39)	L138Q	possibly damaging	Het
Spag16	T	C	1: 69,935,742 (GRCm39)		probably null	Het
Sspo	C	T	6: 48,467,401 (GRCm39)	P4188S	probably damaging	Het
Synm	C	T	7: 67,384,437 (GRCm39)	S1075N	probably benign	Het
Tacc2	G	T	7: 130,331,047 (GRCm39)	D2151Y	probably damaging	Het
Tbc1d32	C	A	10: 56,027,914 (GRCm39)	L729F	probably damaging	Het
Tnfsf4	A	G	1: 161,244,584 (GRCm39)	N91S	possibly damaging	Het
Trim63	G	A	4: 134,050,444 (GRCm39)	E243K	probably benign	Het
Trim72	T	G	7: 127,603,714 (GRCm39)	L20R	probably damaging	Het
Tubb1	A	G	2: 174,299,217 (GRCm39)	M300V	probably damaging	Het
Ubfd1	C	T	7: 121,668,091 (GRCm39)	A207V	probably damaging	Het
Usp16	T	A	16: 87,267,339 (GRCm39)		probably null	Het
Vmn2r23	A	G	6: 123,689,936 (GRCm39)	T271A	possibly damaging	Het
Vmn2r72	T	A	7: 85,387,462 (GRCm39)	I701F	possibly damaging	Het
Wdfy4	A	G	14: 32,769,232 (GRCm39)	Y2078H	probably damaging	Het
Wdr41	T	C	13: 95,153,958 (GRCm39)		probably null	Het
Zfp955b	A	G	17: 33,522,031 (GRCm39)	Y500C	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
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
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
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

Posted On

2016-07-22