Incidental Mutation 'R8190:Mfn1'
ID 635057
Institutional Source Beutler Lab
Gene Symbol Mfn1
Ensembl Gene ENSMUSG00000027668
Gene Name mitofusin 1
Synonyms D3Ertd265e, 6330416C07Rik, HR2, 2310002F04Rik
MMRRC Submission 067613-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8190 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 32583614-32633388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32622538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 599 (I599F)
Ref Sequence ENSEMBL: ENSMUSP00000088801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091257] [ENSMUST00000118286] [ENSMUST00000151320]
AlphaFold Q811U4
PDB Structure Mitofusin domain HR2 V686M/I708M mutant [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000091257
AA Change: I599F

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000088801
Gene: ENSMUSG00000027668
AA Change: I599F

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000118286
AA Change: I599F

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113251
Gene: ENSMUSG00000027668
AA Change: I599F

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000151320
AA Change: I247F

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120960
Gene: ENSMUSG00000027668
AA Change: I247F

DomainStartEndE-ValueType
low complexity region 42 53 N/A INTRINSIC
Pfam:Fzo_mitofusin 215 319 1.2e-56 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T C 14: 29,706,030 (GRCm39) V113A possibly damaging Het
Adcy7 A G 8: 89,037,666 (GRCm39) M245V possibly damaging Het
Adgra1 G T 7: 139,456,034 (GRCm39) R554L probably benign Het
Agfg2 T A 5: 137,653,664 (GRCm39) M351L probably benign Het
Ahnak G A 19: 8,979,619 (GRCm39) G301D probably benign Het
Ambra1 C T 2: 91,602,697 (GRCm39) A227V possibly damaging Het
Ankrd24 T A 10: 81,474,152 (GRCm39) D166E unknown Het
Anks1 C T 17: 28,205,778 (GRCm39) P341S probably benign Het
Ano4 C T 10: 88,808,607 (GRCm39) D766N probably benign Het
Apol7e A T 15: 77,602,007 (GRCm39) T202S possibly damaging Het
Arhgap44 C A 11: 64,929,479 (GRCm39) C275F probably damaging Het
Arl6ip4 A C 5: 124,255,095 (GRCm39) K95T probably damaging Het
Bbs9 T C 9: 22,590,284 (GRCm39) L674P probably damaging Het
Bmp4 T A 14: 46,621,972 (GRCm39) M191L probably benign Het
Celsr1 A G 15: 85,787,090 (GRCm39) L2753P probably damaging Het
Cerkl T A 2: 79,163,901 (GRCm39) H473L probably benign Het
Cfap99 A T 5: 34,482,502 (GRCm39) T538S possibly damaging Het
Clock A T 5: 76,375,051 (GRCm39) V706E probably damaging Het
Cpne6 T C 14: 55,749,485 (GRCm39) M15T probably benign Het
Deaf1 T C 7: 140,894,324 (GRCm39) D351G probably damaging Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Eif3j1 A T 2: 121,877,969 (GRCm39) D119V probably damaging Het
Eps8l1 C A 7: 4,474,297 (GRCm39) S195Y probably benign Het
Exosc5 T C 7: 25,365,769 (GRCm39) probably null Het
Fabp2 A T 3: 122,690,419 (GRCm39) H34L probably benign Het
Fbln5 T A 12: 101,723,555 (GRCm39) Q382L probably damaging Het
Fbxo34 C A 14: 47,767,879 (GRCm39) T464K possibly damaging Het
Fndc8 T G 11: 82,788,686 (GRCm39) V172G probably damaging Het
Frs2 C T 10: 116,910,784 (GRCm39) V193I possibly damaging Het
Gadd45a A G 6: 67,013,813 (GRCm39) I44T possibly damaging Het
Gprin3 A G 6: 59,331,456 (GRCm39) S284P possibly damaging Het
Gsta4 T C 9: 78,105,654 (GRCm39) V28A possibly damaging Het
Herc1 T A 9: 66,325,733 (GRCm39) D1402E probably benign Het
Hipk2 A T 6: 38,795,728 (GRCm39) S180R possibly damaging Het
Hrg A T 16: 22,779,793 (GRCm39) H357L unknown Het
Htr4 A G 18: 62,570,971 (GRCm39) Q342R possibly damaging Het
Impa1 A G 3: 10,386,688 (GRCm39) S184P possibly damaging Het
Iqgap3 A T 3: 87,998,086 (GRCm39) Q281L probably damaging Het
Kcnh8 C T 17: 53,263,936 (GRCm39) P811L probably damaging Het
Lpin1 T C 12: 16,599,003 (GRCm39) I628V Het
Lrrc38 G A 4: 143,077,303 (GRCm39) G189R probably damaging Het
Nalcn T A 14: 123,837,351 (GRCm39) R4S possibly damaging Het
Nbeal2 C T 9: 110,455,158 (GRCm39) R2580Q probably benign Het
Nlrp4b A G 7: 10,448,319 (GRCm39) N174S probably damaging Het
Or3a4 T A 11: 73,945,305 (GRCm39) R93S probably benign Het
Or4q3 A T 14: 50,583,179 (GRCm39) V240D probably damaging Het
Or52a5 A T 7: 103,426,802 (GRCm39) V250D probably damaging Het
Or5p63 A G 7: 107,811,014 (GRCm39) F241L possibly damaging Het
Pabpc2 G A 18: 39,908,520 (GRCm39) R595Q probably benign Het
Pak6 C T 2: 118,520,578 (GRCm39) Q190* probably null Het
Pds5a A T 5: 65,781,341 (GRCm39) H1046Q probably damaging Het
Plin1 A G 7: 79,373,028 (GRCm39) S314P probably benign Het
Pramel20 T G 4: 143,298,530 (GRCm39) Y158D probably benign Het
Ptpra G A 2: 30,328,351 (GRCm39) S224N probably damaging Het
Rbp1 T G 9: 98,326,709 (GRCm39) W107G probably damaging Het
Rgs7bp T C 13: 105,189,617 (GRCm39) N61D probably damaging Het
Slc1a6 A G 10: 78,627,067 (GRCm39) T135A probably damaging Het
Smarcc1 T A 9: 110,031,602 (GRCm39) D783E probably benign Het
Sufu G T 19: 46,389,636 (GRCm39) E86* probably null Het
Synm A T 7: 67,383,654 (GRCm39) M1336K probably benign Het
Tgm1 C T 14: 55,942,341 (GRCm39) G670D probably damaging Het
Tmc8 T G 11: 117,682,186 (GRCm39) probably null Het
Togaram1 T C 12: 65,053,686 (GRCm39) V1322A probably damaging Het
Uxs1 A T 1: 43,810,911 (GRCm39) I225K possibly damaging Het
Vil1 G T 1: 74,474,052 (GRCm39) E796* probably null Het
Vmn1r174 T C 7: 23,453,568 (GRCm39) F78S probably damaging Het
Vps13d T A 4: 144,879,321 (GRCm39) I1501F Het
Vps8 A T 16: 21,393,780 (GRCm39) T1216S possibly damaging Het
Yipf4 G T 17: 74,800,967 (GRCm39) R95L probably damaging Het
Zan T A 5: 137,465,346 (GRCm39) T470S probably damaging Het
Zfp113 G T 5: 138,143,258 (GRCm39) H331N probably damaging Het
Zfp62 A G 11: 49,106,902 (GRCm39) Y331C probably damaging Het
Zfyve26 T C 12: 79,327,610 (GRCm39) H580R probably benign Het
Other mutations in Mfn1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGGAATTTCCACACACCCC -3'
(R):5'- CAGGTTGAGGTATGGGTCAGA -3'

Sequencing Primer
(F):5'- GAATTTCCACACACCCCCATAGTTTG -3'
(R):5'- TTGAGGTATGGGTCAGAAGGCAG -3'
Posted On 2020-07-13