Incidental Mutation 'R9322:Mief2'
ID 706275
Institutional Source Beutler Lab
Gene Symbol Mief2
Ensembl Gene ENSMUSG00000018599
Gene Name mitochondrial elongation factor 2
Synonyms LOC237781, Smcr7
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.369) question?
Stock # R9322 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 60619224-60623777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 60621844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 138 (H138L)
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 possibly damaging
Transcript: ENSMUST00000018743
AA Change: H138L

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000018743
Gene: ENSMUSG00000018599
AA Change: H138L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,192,331 (GRCm39) V727A probably damaging Het
Arhgef33 T A 17: 80,677,818 (GRCm39) L455* probably null Het
Arnt T C 3: 95,397,929 (GRCm39) S591P probably benign Het
Asic4 A G 1: 75,446,462 (GRCm39) M335V probably benign Het
Atp1a2 A G 1: 172,107,625 (GRCm39) S665P possibly damaging Het
Cat T C 2: 103,303,333 (GRCm39) N148S probably damaging Het
Ccdc121rt3 T A 5: 112,503,272 (GRCm39) Y144F probably damaging Het
Ccdc9 T C 7: 16,012,360 (GRCm39) D274G probably damaging Het
Ciao3 G C 17: 25,998,548 (GRCm39) Q217H probably damaging Het
Csnk1g2 T C 10: 80,474,978 (GRCm39) Y332H probably damaging Het
Csrnp1 T C 9: 119,801,853 (GRCm39) E402G probably damaging Het
Dchs2 T A 3: 83,189,001 (GRCm39) I1455N possibly damaging Het
Dnah12 A T 14: 26,492,934 (GRCm39) I1232F possibly damaging Het
Dsn1 C T 2: 156,843,669 (GRCm39) V144I possibly damaging Het
Efcab3 A T 11: 104,765,199 (GRCm39) E2501V probably benign Het
Epha6 A T 16: 60,245,118 (GRCm39) S360R probably damaging Het
Fasl A T 1: 161,609,512 (GRCm39) L158Q probably damaging Het
Filip1 A T 9: 79,727,014 (GRCm39) V535E probably benign Het
Fmo5 A T 3: 97,546,190 (GRCm39) K168* probably null Het
Gm5157 T G 7: 20,919,431 (GRCm39) K37N probably benign Het
Grm8 T A 6: 27,363,728 (GRCm39) I596F possibly damaging Het
Il23a T C 10: 128,132,990 (GRCm39) E123G probably benign Het
Itpr2 T C 6: 146,226,587 (GRCm39) T1386A probably benign Het
Krt79 T A 15: 101,840,245 (GRCm39) Q317L possibly damaging Het
Lhx4 A G 1: 155,578,353 (GRCm39) I263T probably benign Het
Med4 T C 14: 73,747,601 (GRCm39) L34P probably damaging Het
Mid1 C G X: 168,768,003 (GRCm39) P384A probably benign Het
Nat3 A T 8: 68,000,162 (GRCm39) K14* probably null Het
Nbeal1 T A 1: 60,297,818 (GRCm39) I1216N possibly damaging Het
Nlrp1b T C 11: 71,108,118 (GRCm39) E461G probably benign Het
Or11h23 C A 14: 50,948,507 (GRCm39) T240N probably damaging Het
Or5aq7 T C 2: 86,938,561 (GRCm39) T57A probably damaging Het
Or5p4 C T 7: 107,680,727 (GRCm39) T242M probably damaging Het
Pdha2 C A 3: 140,916,550 (GRCm39) M319I probably benign Het
Pik3r2 A G 8: 71,227,494 (GRCm39) V43A possibly damaging Het
Psd T A 19: 46,301,880 (GRCm39) E902V probably damaging Het
Psme3 A C 11: 101,211,437 (GRCm39) H198P probably damaging Het
Rlbp1 T C 7: 79,027,003 (GRCm39) D219G possibly damaging Het
Scn1b C A 7: 30,824,517 (GRCm39) W57L probably damaging Het
Sfrp2 T C 3: 83,674,006 (GRCm39) I53T probably damaging Het
Skic2 T C 17: 35,066,439 (GRCm39) probably null Het
Slc18a3 A G 14: 32,185,282 (GRCm39) I367T probably benign Het
Slc44a2 A T 9: 21,258,246 (GRCm39) R499W probably damaging Het
St18 A G 1: 6,865,747 (GRCm39) D75G probably benign Het
Trim67 C A 8: 125,549,967 (GRCm39) Y532* probably null Het
Ttc16 C T 2: 32,664,952 (GRCm39) probably benign Het
Usp7 A T 16: 8,517,124 (GRCm39) S487T probably damaging Het
Vmn2r104 T C 17: 20,263,087 (GRCm39) T125A probably benign Het
Vmn2r70 T C 7: 85,208,498 (GRCm39) T660A possibly damaging Het
Zer1 A T 2: 30,000,923 (GRCm39) V166D probably benign 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
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
R9668:Mief2 UTSW 11 60,622,074 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGTGAGCAGGTCGAGTTTTCTTAAC -3'
(R):5'- AAGCTGAGTCCTGCGTACAG -3'

Sequencing Primer
(F):5'- AACTTGTGGGGCCTTCTAATATG -3'
(R):5'- CCAGGTACCAGGCTCCATAG -3'
Posted On 2022-04-18