Incidental Mutation 'R6101:Mief1'
ID 485274
Institutional Source Beutler Lab
Gene Symbol Mief1
Ensembl Gene ENSMUSG00000022412
Gene Name mitochondrial elongation factor 1
Synonyms Smcr7l
MMRRC Submission 044251-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6101 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 80118284-80137572 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80133941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 333 (Y333H)
Ref Sequence ENSEMBL: ENSMUSP00000154875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023048] [ENSMUST00000166030] [ENSMUST00000228788] [ENSMUST00000229138]
AlphaFold Q8BGV8
Predicted Effect probably benign
Transcript: ENSMUST00000023048
AA Change: Y333H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000023048
Gene: ENSMUSG00000022412
AA Change: Y333H

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Mab-21 189 455 7.09e-84 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166030
AA Change: Y333H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000129209
Gene: ENSMUSG00000022412
AA Change: Y333H

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Mab-21 189 455 7.09e-84 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000228788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228965
Predicted Effect probably benign
Transcript: ENSMUST00000229138
AA Change: Y333H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A T 8: 25,460,775 (GRCm39) C570S probably damaging Het
Adh6b T A 3: 138,063,471 (GRCm39) I350K possibly damaging Het
Ahnak G A 19: 8,981,463 (GRCm39) V916I probably benign Het
Aldh4a1 C T 4: 139,365,806 (GRCm39) P266S possibly damaging Het
Arhgap11a G A 2: 113,665,219 (GRCm39) R460* probably null Het
Chl1 A T 6: 103,669,993 (GRCm39) D477V probably damaging Het
Clstn3 A T 6: 124,438,629 (GRCm39) L45Q probably damaging Het
Cnot7 C T 8: 40,963,078 (GRCm39) R32Q probably benign Het
Csrnp1 T C 9: 119,802,551 (GRCm39) D220G probably damaging Het
Cyb5a G A 18: 84,889,718 (GRCm39) R49Q possibly damaging Het
Fblim1 G A 4: 141,312,033 (GRCm39) R231C probably damaging Het
Glul T A 1: 153,782,177 (GRCm39) Y137* probably null Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Igha T A 12: 113,220,017 (GRCm39) probably benign Het
Kif2b A G 11: 91,466,814 (GRCm39) S490P probably benign Het
Kxd1 A T 8: 70,972,589 (GRCm39) N33K probably benign Het
Lrrk2 T C 15: 91,607,338 (GRCm39) I567T probably benign Het
Man2a2 T C 7: 80,016,749 (GRCm39) D355G probably damaging Het
Map6 T C 7: 98,917,314 (GRCm39) V29A probably damaging Het
Mical3 A T 6: 121,010,671 (GRCm39) V437D probably damaging Het
Or12j4 T A 7: 140,046,432 (GRCm39) V106D probably benign Het
Or4f7 A G 2: 111,644,598 (GRCm39) F158L probably benign Het
Or8b52 A G 9: 38,576,916 (GRCm39) S75P probably damaging Het
Or8d2b T C 9: 38,788,604 (GRCm39) L44P possibly damaging Het
Pak1ip1 T A 13: 41,158,361 (GRCm39) L78Q probably damaging Het
Pikfyve A G 1: 65,303,504 (GRCm39) probably null Het
Pinlyp C T 7: 24,245,405 (GRCm39) R5K possibly damaging Het
Pkd1l3 A G 8: 110,367,478 (GRCm39) D1225G probably damaging Het
Pnma8b T A 7: 16,680,493 (GRCm39) S492R probably benign Het
Postn A G 3: 54,279,641 (GRCm39) probably null Het
Ptprq A G 10: 107,416,127 (GRCm39) Y1724H possibly damaging Het
Rpn2 T A 2: 157,152,108 (GRCm39) probably null Het
Scn5a A G 9: 119,351,716 (GRCm39) V755A probably damaging Het
Slc22a30 T C 19: 8,315,232 (GRCm39) probably null Het
Specc1l T C 10: 75,084,466 (GRCm39) S730P probably damaging Het
Steap2 T A 5: 5,725,891 (GRCm39) I378F possibly damaging Het
Tdrd12 A T 7: 35,180,558 (GRCm39) Y818* probably null Het
Thbs4 G T 13: 92,911,993 (GRCm39) Q246K possibly damaging Het
Tnfsf10 A G 3: 27,389,698 (GRCm39) Y253C probably damaging Het
Tnpo3 G T 6: 29,588,042 (GRCm39) C125* probably null Het
Trim58 A G 11: 58,542,441 (GRCm39) N467S probably benign Het
Trpm6 C T 19: 18,831,112 (GRCm39) R1326* probably null Het
Zc3hav1l A G 6: 38,270,012 (GRCm39) V279A probably benign Het
Zfp618 A T 4: 63,051,478 (GRCm39) Q753L probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zkscan17 A T 11: 59,394,401 (GRCm39) C67S probably damaging Het
Other mutations in Mief1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01897:Mief1 APN 15 80,132,709 (GRCm39) splice site probably benign
R1754:Mief1 UTSW 15 80,133,803 (GRCm39) missense probably damaging 0.97
R2010:Mief1 UTSW 15 80,132,126 (GRCm39) missense possibly damaging 0.95
R4379:Mief1 UTSW 15 80,132,160 (GRCm39) missense possibly damaging 0.86
R4609:Mief1 UTSW 15 80,132,454 (GRCm39) missense probably benign 0.12
R4789:Mief1 UTSW 15 80,132,080 (GRCm39) nonsense probably null
R5862:Mief1 UTSW 15 80,132,586 (GRCm39) missense probably benign 0.01
R6350:Mief1 UTSW 15 80,133,804 (GRCm39) missense probably damaging 1.00
R6605:Mief1 UTSW 15 80,132,692 (GRCm39) nonsense probably null
R6944:Mief1 UTSW 15 80,133,644 (GRCm39) missense probably damaging 1.00
R7197:Mief1 UTSW 15 80,134,061 (GRCm39) missense possibly damaging 0.94
R7316:Mief1 UTSW 15 80,133,598 (GRCm39) missense probably damaging 0.99
R7905:Mief1 UTSW 15 80,133,599 (GRCm39) missense probably damaging 1.00
R8494:Mief1 UTSW 15 80,133,593 (GRCm39) missense probably benign 0.00
R8717:Mief1 UTSW 15 80,132,584 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CATCAACTGGCCAGCCATAG -3'
(R):5'- TAGAAACCGGTCAGCCAACATG -3'

Sequencing Primer
(F):5'- AGCCATAGGGTCCCTCTTAGACTATG -3'
(R):5'- TCAGCCAACATGTCTGGAG -3'
Posted On 2017-08-16