Incidental Mutation 'IGL02657:Mief2'
ID 302382
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mief2
Ensembl Gene ENSMUSG00000018599
Gene Name mitochondrial elongation factor 2
Synonyms LOC237781, Smcr7
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.400) question?
Stock # IGL02657
Quality Score
Chromosome 11
Chromosomal Location 60619224-60623777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 60621783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 118 (S118C)
Ref Sequence ENSEMBL: ENSMUSP00000018743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002889] [ENSMUST00000018743]
AlphaFold Q5NCS9
PDB Structure Crystal structure and functional analysis of MiD49, a receptor for the mitochondrial fission protein Drp1 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000002889
SMART Domains Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812

LRR 55 78 1.08e-1 SMART
LRR 103 126 4.08e0 SMART
LRR 127 149 2.27e1 SMART
LRR 150 173 1.25e-1 SMART
LRR 222 244 6.78e1 SMART
LRR 245 268 2.86e-1 SMART
LRR 269 291 3.78e-1 SMART
LRR 316 339 2.82e0 SMART
LRR 340 362 2.27e2 SMART
low complexity region 403 420 N/A INTRINSIC
GEL 499 597 4.17e-25 SMART
GEL 617 709 1.72e-26 SMART
low complexity region 727 740 N/A INTRINSIC
GEL 745 838 2.24e-25 SMART
GEL 905 1039 1.13e-3 SMART
GEL 1056 1152 7.28e-16 SMART
GEL 1167 1263 5.51e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000018743
AA Change: S118C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000018743
Gene: ENSMUSG00000018599
AA Change: S118C

transmembrane domain 30 47 N/A INTRINSIC
low complexity region 97 104 N/A INTRINSIC
Mab-21 181 448 2.78e-68 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154890
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174993
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial surface. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,725,648 (GRCm39) V120M possibly damaging Het
Aldh1l1 T C 6: 90,567,776 (GRCm39) L680P probably damaging Het
Alox12 A T 11: 70,138,104 (GRCm39) D410E probably benign Het
Amt T A 9: 108,178,579 (GRCm39) V365E probably damaging Het
Ano9 A G 7: 140,687,353 (GRCm39) S321P probably damaging Het
Atp2c2 A T 8: 120,479,771 (GRCm39) I767F probably damaging Het
Bag1 A T 4: 40,936,643 (GRCm39) Y338N probably benign Het
Bcr T A 10: 74,990,796 (GRCm39) D767E probably benign Het
Chfr A T 5: 110,302,705 (GRCm39) Q350L probably damaging Het
Cops3 A T 11: 59,721,043 (GRCm39) L124H probably damaging Het
Ddx60 T C 8: 62,437,149 (GRCm39) Y988H probably benign Het
Dnajc2 A T 5: 21,975,479 (GRCm39) probably benign Het
Dym C T 18: 75,215,527 (GRCm39) Q238* probably null Het
Fbn1 A T 2: 125,193,945 (GRCm39) C1341S possibly damaging Het
Fryl G T 5: 73,212,203 (GRCm39) N2308K probably benign Het
Gbp2b G T 3: 142,309,873 (GRCm39) R221L probably damaging Het
Gpat2 A G 2: 127,269,251 (GRCm39) N8S probably benign Het
Gvin2 T C 7: 105,545,972 (GRCm39) K2360R probably damaging Het
Hycc2 A T 1: 58,574,561 (GRCm39) W327R probably damaging Het
Ift52 A G 2: 162,887,135 (GRCm39) D379G probably damaging Het
Inhbe C A 10: 127,186,645 (GRCm39) L178F probably damaging Het
Ipo5 T C 14: 121,181,212 (GRCm39) Y913H possibly damaging Het
Kif21b T A 1: 136,099,968 (GRCm39) D1507E possibly damaging Het
Lnx2 A G 5: 146,964,984 (GRCm39) V413A probably damaging Het
Lrrc40 C A 3: 157,742,410 (GRCm39) F16L probably damaging Het
Magi2 A G 5: 19,432,581 (GRCm39) K99E probably damaging Het
Me3 A G 7: 89,495,461 (GRCm39) I357M probably benign Het
Med30 A G 15: 52,582,761 (GRCm39) Y66C probably benign Het
Mylip A G 13: 45,544,722 (GRCm39) S49G probably benign Het
Ncoa7 T A 10: 30,528,972 (GRCm39) D107V probably damaging Het
Nvl C A 1: 180,934,541 (GRCm39) V655F probably damaging Het
Olfml2b C T 1: 170,508,645 (GRCm39) T501I probably benign Het
Ormdl2 T C 10: 128,656,186 (GRCm39) I40V probably benign Het
Pde6b G T 5: 108,568,142 (GRCm39) probably benign Het
Ralgapa1 A C 12: 55,720,292 (GRCm39) L1785W probably damaging Het
Rnf112 A T 11: 61,341,078 (GRCm39) probably null Het
Sema3c A T 5: 17,781,866 (GRCm39) M1L possibly damaging Het
Sema3c T A 5: 17,867,972 (GRCm39) Y128N probably damaging Het
Sema4b G A 7: 79,866,789 (GRCm39) G255D probably damaging Het
Setd1a C T 7: 127,394,997 (GRCm39) probably benign Het
Sirpb1a A C 3: 15,482,111 (GRCm39) S72R possibly damaging Het
Slu7 T A 11: 43,332,849 (GRCm39) probably null Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Suclg1 T A 6: 73,237,504 (GRCm39) V83E probably damaging Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Tap2 T C 17: 34,424,432 (GRCm39) V55A probably damaging Het
Tekt4 T C 17: 25,692,732 (GRCm39) I186T possibly damaging Het
Trpc6 C A 9: 8,643,602 (GRCm39) D462E possibly damaging Het
Ubqln3 T G 7: 103,791,170 (GRCm39) T307P probably damaging Het
Vmn1r64 A T 7: 5,886,727 (GRCm39) I272K probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfc3h1 A G 10: 115,247,859 (GRCm39) T1021A possibly damaging Het
Zfp512 A T 5: 31,628,501 (GRCm39) H159L probably damaging Het
Other mutations in Mief2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0212:Mief2 UTSW 11 60,621,493 (GRCm39) missense probably damaging 1.00
R1437:Mief2 UTSW 11 60,621,769 (GRCm39) missense probably benign 0.01
R1438:Mief2 UTSW 11 60,621,140 (GRCm39) missense possibly damaging 0.90
R1635:Mief2 UTSW 11 60,622,234 (GRCm39) missense probably damaging 1.00
R4772:Mief2 UTSW 11 60,621,288 (GRCm39) intron probably benign
R6009:Mief2 UTSW 11 60,622,485 (GRCm39) missense probably benign 0.03
R9063:Mief2 UTSW 11 60,622,314 (GRCm39) missense probably damaging 0.96
R9305:Mief2 UTSW 11 60,622,042 (GRCm39) missense possibly damaging 0.90
R9322:Mief2 UTSW 11 60,621,844 (GRCm39) missense possibly damaging 0.91
R9668:Mief2 UTSW 11 60,622,074 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16