Incidental Mutation 'R0039:Mfn1'
ID15700
Institutional Source Beutler Lab
Gene Symbol Mfn1
Ensembl Gene ENSMUSG00000027668
Gene Namemitofusin 1
Synonyms6330416C07Rik, HR2, D3Ertd265e, 2310002F04Rik
MMRRC Submission 038333-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0039 (G1)
Quality Score
Status Validated
Chromosome3
Chromosomal Location32529465-32579239 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 32538267 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091257] [ENSMUST00000118286] [ENSMUST00000137565] [ENSMUST00000147350]
Predicted Effect probably benign
Transcript: ENSMUST00000091257
SMART Domains Protein: ENSMUSP00000088801
Gene: ENSMUSG00000027668

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 probably benign
Transcript: ENSMUST00000118286
SMART Domains Protein: ENSMUSP00000113251
Gene: ENSMUSG00000027668

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 noncoding transcript
Transcript: ENSMUST00000125182
Predicted Effect probably benign
Transcript: ENSMUST00000137565
SMART Domains Protein: ENSMUSP00000117411
Gene: ENSMUSG00000027668

DomainStartEndE-ValueType
Pfam:MMR_HSR1 77 188 3.8e-6 PFAM
Pfam:Dynamin_N 78 189 5.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147350
SMART Domains Protein: ENSMUSP00000116380
Gene: ENSMUSG00000027668

DomainStartEndE-ValueType
Pfam:MMR_HSR1 77 237 3.6e-8 PFAM
Pfam:Dynamin_N 78 238 1.5e-25 PFAM
Coding Region Coverage
  • 1x: 82.5%
  • 3x: 74.4%
  • 10x: 54.3%
  • 20x: 37.4%
Validation Efficiency 95% (60/63)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 C T 12: 52,518,735 Q830* probably null Het
Atic A T 1: 71,577,850 E523V possibly damaging Het
Cass4 T A 2: 172,426,980 F329L probably damaging Het
Cdk17 A T 10: 93,226,778 probably benign Het
Cep120 C T 18: 53,685,961 R886H probably benign Het
Cep170 A C 1: 176,782,495 probably null Het
Dsg3 A G 18: 20,521,484 K82E probably benign Het
Dtd1 C T 2: 144,746,976 R185W probably damaging Het
Glt6d1 C A 2: 25,794,727 probably null Het
Hectd1 T G 12: 51,753,825 E2070A possibly damaging Het
Ifit1bl2 T A 19: 34,619,446 K257* probably null Het
Ighv8-5 T A 12: 115,067,587 T111S possibly damaging Het
Lmtk2 G T 5: 144,166,387 L321F probably damaging Het
Mcoln2 C T 3: 146,183,561 T374M probably damaging Het
Miox C T 15: 89,336,274 L189F possibly damaging Het
Mroh8 T C 2: 157,229,929 H552R possibly damaging Het
Myh2 T A 11: 67,178,277 L304Q probably damaging Het
Prune1 T A 3: 95,262,367 T175S probably damaging Het
Rdh10 C T 1: 16,129,284 T238I probably damaging Het
Rlf T A 4: 121,146,842 H1647L possibly damaging Het
Rreb1 C T 13: 37,899,637 T92M probably damaging Het
Scn9a A T 2: 66,562,444 M268K probably damaging Het
Sec16a A G 2: 26,423,914 V1893A probably benign Het
Snd1 T A 6: 28,745,210 L518Q probably damaging Het
Stat1 T A 1: 52,140,660 V343D probably damaging Het
Topors A G 4: 40,262,772 S171P probably damaging Het
Tubd1 C T 11: 86,549,395 Q82* probably null Het
Unc13c A G 9: 73,669,565 probably benign Het
Wdr43 G T 17: 71,653,492 G590* probably null Het
Other mutations in Mfn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Mfn1 APN 3 32542836 missense probably damaging 1.00
IGL01687:Mfn1 APN 3 32563366 splice site probably benign
IGL02743:Mfn1 APN 3 32574290 missense probably benign 0.10
PIT4520001:Mfn1 UTSW 3 32561546 missense probably benign
R0571:Mfn1 UTSW 3 32561472 missense probably damaging 1.00
R0920:Mfn1 UTSW 3 32534236 critical splice acceptor site probably null
R1661:Mfn1 UTSW 3 32534322 missense probably benign 0.00
R1665:Mfn1 UTSW 3 32534322 missense probably benign 0.00
R2153:Mfn1 UTSW 3 32542826 missense probably damaging 1.00
R2156:Mfn1 UTSW 3 32534251 missense possibly damaging 0.60
R2260:Mfn1 UTSW 3 32563426 nonsense probably null
R2420:Mfn1 UTSW 3 32569515 missense probably benign 0.21
R3864:Mfn1 UTSW 3 32563092 missense possibly damaging 0.89
R4079:Mfn1 UTSW 3 32542849 missense probably damaging 1.00
R4162:Mfn1 UTSW 3 32562998 splice site probably benign
R4897:Mfn1 UTSW 3 32546562 intron probably benign
R5115:Mfn1 UTSW 3 32564307 critical splice donor site probably null
R5276:Mfn1 UTSW 3 32564205 missense probably benign 0.39
R5590:Mfn1 UTSW 3 32563847 missense probably benign 0.00
R5629:Mfn1 UTSW 3 32561510 missense possibly damaging 0.83
R6110:Mfn1 UTSW 3 32563024 missense probably benign 0.01
R6114:Mfn1 UTSW 3 32563836 missense probably damaging 1.00
R6560:Mfn1 UTSW 3 32569516 missense probably damaging 0.96
R6891:Mfn1 UTSW 3 32577103 missense possibly damaging 0.49
R7053:Mfn1 UTSW 3 32531965 missense probably benign 0.00
R7071:Mfn1 UTSW 3 32568395 missense probably benign 0.00
R7182:Mfn1 UTSW 3 32564220 missense probably damaging 1.00
R8190:Mfn1 UTSW 3 32568389 missense possibly damaging 0.88
Z1177:Mfn1 UTSW 3 32564291 nonsense probably null
Posted On2012-12-21