Incidental Mutation 'R1635:Mief2'
ID 173092
Institutional Source Beutler Lab
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 # R1635 (G1)
Quality Score 157
Status Not validated
Chromosome 11
Chromosomal Location 60619224-60623777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 60622234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 268 (W268L)
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

DomainStartEndE-ValueType
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: W268L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018743
Gene: ENSMUSG00000018599
AA Change: W268L

DomainStartEndE-ValueType
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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.9%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A T 2: 25,334,868 (GRCm39) I1947F probably benign Het
Adgrd1 G T 5: 129,205,971 (GRCm39) V182F probably damaging Het
Agmat A G 4: 141,474,380 (GRCm39) D87G probably damaging Het
AI182371 T C 2: 34,978,749 (GRCm39) probably null Het
Anapc1 G T 2: 128,470,452 (GRCm39) H1559Q probably damaging Het
Ankar T C 1: 72,689,297 (GRCm39) Y1278C probably damaging Het
Arhgef2 A T 3: 88,546,628 (GRCm39) probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Banp A T 8: 122,727,750 (GRCm39) I130F probably damaging Het
C130050O18Rik G T 5: 139,400,248 (GRCm39) R100S probably benign Het
Carmil3 A G 14: 55,733,739 (GRCm39) T374A possibly damaging Het
Cc2d2a T A 5: 43,879,812 (GRCm39) W1076R probably damaging Het
Cdc34 T G 10: 79,523,888 (GRCm39) S235A probably benign Het
Cdh8 G T 8: 99,757,656 (GRCm39) H647Q probably damaging Het
Cdk1 A T 10: 69,174,377 (GRCm39) L282Q probably damaging Het
Ceacam3 A G 7: 16,893,902 (GRCm39) D471G probably damaging Het
Ciao2b A T 8: 105,367,620 (GRCm39) I108N possibly damaging Het
Cltc A T 11: 86,648,105 (GRCm39) I4N probably benign Het
Cntfr T A 4: 41,658,816 (GRCm39) E305V probably damaging Het
Cwh43 T A 5: 73,591,653 (GRCm39) I496N probably damaging Het
Cyp2f2 A G 7: 26,829,149 (GRCm39) N218S probably benign Het
D16Ertd472e A G 16: 78,343,392 (GRCm39) probably null Het
Dab2 A G 15: 6,459,351 (GRCm39) Q400R possibly damaging Het
Dapl1 A T 2: 59,326,906 (GRCm39) I51F probably benign Het
Drc7 G A 8: 95,800,960 (GRCm39) probably null Het
Etl4 A G 2: 20,811,219 (GRCm39) T1101A probably damaging Het
Fam83c C A 2: 155,671,971 (GRCm39) R488M possibly damaging Het
Fbxo42 A G 4: 140,927,840 (GRCm39) T707A probably damaging Het
Fcmr A T 1: 130,803,922 (GRCm39) probably null Het
Fer1l6 G C 15: 58,518,930 (GRCm39) K1687N probably damaging Het
Fgd4 G A 16: 16,292,893 (GRCm39) R275* probably null Het
Fxr2 G A 11: 69,532,139 (GRCm39) C87Y possibly damaging Het
Gja4 A T 4: 127,206,472 (GRCm39) I97N probably damaging Het
Gm136 A G 4: 34,750,919 (GRCm39) probably null Het
Gm14496 A G 2: 181,642,837 (GRCm39) D836G possibly damaging Het
Grm3 T A 5: 9,561,520 (GRCm39) T777S probably damaging Het
Guca2b A G 4: 119,514,912 (GRCm39) Y50H probably damaging Het
Herc2 C T 7: 55,786,415 (GRCm39) P1587S probably benign Het
Hmcn1 C T 1: 150,545,309 (GRCm39) S2766N probably benign Het
Idi2 T A 13: 9,009,455 (GRCm39) I224K probably damaging Het
Kmt2a A T 9: 44,735,666 (GRCm39) probably benign Het
Lonp2 A T 8: 87,440,078 (GRCm39) M693L possibly damaging Het
Megf8 G T 7: 25,046,172 (GRCm39) M1525I possibly damaging Het
Mgme1 T C 2: 144,121,018 (GRCm39) V276A possibly damaging Het
Mpped1 C T 15: 83,676,191 (GRCm39) probably benign Het
Mreg T C 1: 72,231,356 (GRCm39) N34S probably benign Het
Myf6 T C 10: 107,330,534 (GRCm39) Y11C probably damaging Het
Myh9 C A 15: 77,655,367 (GRCm39) Q1196H probably benign Het
Myh9 A T 15: 77,660,099 (GRCm39) D56E probably benign Het
Myo5c A T 9: 75,184,357 (GRCm39) R949S probably benign Het
Ncapg2 TAA TA 12: 116,398,305 (GRCm39) probably null Het
Nfx1 T A 4: 40,977,004 (GRCm39) V226E probably benign Het
Nlrp10 T A 7: 108,523,737 (GRCm39) K581M possibly damaging Het
Nmd3 T G 3: 69,647,317 (GRCm39) I273S probably benign Het
Or4c3 A T 2: 89,852,314 (GRCm39) I32N possibly damaging Het
P4hb T C 11: 120,462,442 (GRCm39) E88G probably damaging Het
Pcnx3 A T 19: 5,715,773 (GRCm39) H1444Q probably benign Het
Pdia4 A T 6: 47,776,133 (GRCm39) F421L possibly damaging Het
Picalm T A 7: 89,840,459 (GRCm39) S538T probably damaging Het
Ppp2r2b T A 18: 43,192,275 (GRCm39) I11F probably benign Het
Prb1c A G 6: 132,339,969 (GRCm39) probably null Het
Ptk7 C T 17: 46,884,460 (GRCm39) E757K possibly damaging Het
Rbm22 T G 18: 60,694,340 (GRCm39) C24W probably damaging Het
Rev3l A G 10: 39,682,658 (GRCm39) D288G probably damaging Het
Rgs18 T A 1: 144,629,791 (GRCm39) H156L probably benign Het
Rnf213 A G 11: 119,333,405 (GRCm39) I2871M probably damaging Het
Rrm2b A T 15: 37,945,328 (GRCm39) M137K probably damaging Het
Rrp12 A T 19: 41,857,224 (GRCm39) D1183E probably benign Het
Sacs G A 14: 61,441,277 (GRCm39) V1108M probably damaging Het
Scube2 A T 7: 109,442,421 (GRCm39) D270E possibly damaging Het
Serpina3a T A 12: 104,082,737 (GRCm39) F170Y probably damaging Het
Serpinb3b T C 1: 107,082,403 (GRCm39) E287G probably benign Het
Slamf8 C T 1: 172,412,186 (GRCm39) V130M probably damaging Het
Slc5a3 T C 16: 91,874,284 (GRCm39) S114P possibly damaging Het
Sos1 T A 17: 80,730,108 (GRCm39) probably null Het
Sox10 A T 15: 79,040,660 (GRCm39) D293E probably damaging Het
Sphk1 A G 11: 116,426,596 (GRCm39) D177G probably damaging Het
Sphkap T G 1: 83,256,121 (GRCm39) M543L probably benign Het
Syt13 A T 2: 92,783,760 (GRCm39) K343N probably damaging Het
Tatdn3 A G 1: 190,792,373 (GRCm39) M34T probably benign Het
Timd4 T G 11: 46,732,989 (GRCm39) V305G possibly damaging Het
Tnnc2 T C 2: 164,619,512 (GRCm39) I111V probably benign Het
Togaram2 C T 17: 72,004,846 (GRCm39) P301L probably benign Het
Trpc3 T C 3: 36,694,776 (GRCm39) N726S probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Ugt1a5 T A 1: 88,093,805 (GRCm39) probably benign Het
Ulk3 A T 9: 57,500,443 (GRCm39) probably null Het
Unc5d T A 8: 29,250,777 (GRCm39) I297L probably benign Het
Usp20 A G 2: 30,908,830 (GRCm39) I804V probably benign Het
Usp22 G T 11: 61,052,144 (GRCm39) C278* probably null Het
Usp53 A T 3: 122,727,872 (GRCm39) N903K probably benign Het
V1rd19 T C 7: 23,702,812 (GRCm39) F93L probably benign Het
Zdbf2 T A 1: 63,343,493 (GRCm39) V624E possibly damaging Het
Zfyve16 A T 13: 92,645,528 (GRCm39) S1073T probably damaging Het
Zkscan8 T C 13: 21,710,765 (GRCm39) H115R possibly damaging Het
Other mutations in Mief2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02657:Mief2 APN 11 60,621,783 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- AGTTCCCAGAACTGCCCTTTGGTG -3'
(R):5'- AGAAACTCCAGGGCTTGCAGAAAC -3'

Sequencing Primer
(F):5'- TCTCTACGACGGGCTCCAG -3'
(R):5'- GAGTACCAGCATCCTGGTCATC -3'
Posted On 2014-04-24