Incidental Mutation 'IGL01155:Mfn1'
ID 50820
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfn1
Ensembl Gene ENSMUSG00000027668
Gene Name mitofusin 1
Synonyms D3Ertd265e, 6330416C07Rik, HR2, 2310002F04Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01155
Quality Score
Status
Chromosome 3
Chromosomal Location 32583614-32633388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32596985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 148 (M148V)
Ref Sequence ENSEMBL: ENSMUSP00000117411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091257] [ENSMUST00000118286] [ENSMUST00000137565] [ENSMUST00000147350]
AlphaFold Q811U4
Predicted Effect probably damaging
Transcript: ENSMUST00000091257
AA Change: M148V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088801
Gene: ENSMUSG00000027668
AA Change: M148V

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 damaging
Transcript: ENSMUST00000118286
AA Change: M148V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113251
Gene: ENSMUSG00000027668
AA Change: M148V

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 damaging
Transcript: ENSMUST00000137565
AA Change: M148V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117411
Gene: ENSMUSG00000027668
AA Change: M148V

DomainStartEndE-ValueType
Pfam:MMR_HSR1 77 188 3.8e-6 PFAM
Pfam:Dynamin_N 78 189 5.1e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140328
Predicted Effect possibly damaging
Transcript: ENSMUST00000147350
AA Change: M148V

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116380
Gene: ENSMUSG00000027668
AA Change: M148V

DomainStartEndE-ValueType
Pfam:MMR_HSR1 77 237 3.6e-8 PFAM
Pfam:Dynamin_N 78 238 1.5e-25 PFAM
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Adgrl3 T A 5: 81,708,740 (GRCm39) I409N probably benign Het
Akap13 A G 7: 75,219,684 (GRCm39) D29G probably damaging Het
Ap4e1 C A 2: 126,885,365 (GRCm39) T322K probably damaging Het
Arfgef1 G A 1: 10,269,207 (GRCm39) probably benign Het
Asic5 A G 3: 81,915,895 (GRCm39) T282A probably benign Het
Bptf T C 11: 106,971,553 (GRCm39) T985A probably damaging Het
Btnl9 A G 11: 49,066,518 (GRCm39) F349L probably damaging Het
Bves T A 10: 45,229,955 (GRCm39) I253K probably damaging Het
Cars1 T A 7: 143,123,586 (GRCm39) Y455F probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cuedc2 C A 19: 46,321,088 (GRCm39) V15F probably damaging Het
Defa22 T A 8: 21,653,053 (GRCm39) probably null Het
Fat1 G A 8: 45,476,986 (GRCm39) A2011T probably damaging Het
Fyb2 C T 4: 104,856,583 (GRCm39) T533I probably benign Het
Gm1043 T C 5: 37,344,433 (GRCm39) L182P probably damaging Het
Ice1 A T 13: 70,752,201 (GRCm39) V1295E possibly damaging Het
Il12b T A 11: 44,294,915 (GRCm39) S18T probably benign Het
Iqcg A G 16: 32,861,245 (GRCm39) V157A probably damaging Het
Itgax T A 7: 127,744,207 (GRCm39) M937K probably benign Het
Large1 T C 8: 73,858,617 (GRCm39) S84G probably benign Het
Lrp1b T C 2: 41,660,947 (GRCm39) T54A probably benign Het
Mobp C A 9: 119,997,300 (GRCm39) T73K probably benign Het
Ms4a3 T C 19: 11,607,019 (GRCm39) probably benign Het
Muc5ac C T 7: 141,360,680 (GRCm39) probably benign Het
Mzt2 A C 16: 15,680,274 (GRCm39) S104A possibly damaging Het
Naa16 T A 14: 79,622,155 (GRCm39) K27N probably damaging Het
Nos1 T A 5: 118,083,991 (GRCm39) I1267N probably damaging Het
Or10j5 T A 1: 172,784,491 (GRCm39) I43N probably benign Het
Rara A G 11: 98,859,010 (GRCm39) E153G possibly damaging Het
Scn2a T G 2: 65,548,092 (GRCm39) S66A probably damaging Het
Slc6a1 A T 6: 114,291,426 (GRCm39) probably null Het
Sorbs3 A G 14: 70,436,790 (GRCm39) V136A probably damaging Het
Spink5 T A 18: 44,114,214 (GRCm39) H143Q probably benign Het
Susd2 G A 10: 75,476,726 (GRCm39) T99I possibly damaging Het
T C T 17: 8,660,577 (GRCm39) probably null Het
Tac2 G A 10: 127,562,003 (GRCm39) probably null Het
Tfap4 G T 16: 4,365,223 (GRCm39) P180T probably damaging Het
Trap1 G A 16: 3,861,842 (GRCm39) Q641* probably null Het
Unc119 A G 11: 78,239,435 (GRCm39) N252S probably damaging Het
Other mutations in Mfn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-21