Incidental Mutation 'R8494:Mief1'
ID 658207
Institutional Source Beutler Lab
Gene Symbol Mief1
Ensembl Gene ENSMUSG00000022412
Gene Name mitochondrial elongation factor 1
Synonyms Smcr7l
MMRRC Submission 067936-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8494 (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 A at 80133593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 217 (C217S)
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: C217S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000023048
Gene: ENSMUSG00000022412
AA Change: C217S

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: C217S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000129209
Gene: ENSMUSG00000022412
AA Change: C217S

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 probably benign
Transcript: ENSMUST00000229138
AA Change: C217S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,327,821 (GRCm39) M1420L probably benign Het
Adamts14 T A 10: 61,038,708 (GRCm39) H934L probably benign Het
Adamtsl1 T C 4: 86,240,221 (GRCm39) C661R probably damaging Het
Akap5 A G 12: 76,376,455 (GRCm39) D629G probably benign Het
Anapc16 A T 10: 59,832,340 (GRCm39) probably benign Het
Ankar T C 1: 72,697,953 (GRCm39) I758V probably benign Het
Apc2 G T 10: 80,150,313 (GRCm39) R1760L probably damaging Het
C1qb T C 4: 136,608,115 (GRCm39) T83A probably benign Het
Canx T A 11: 50,202,609 (GRCm39) probably null Het
Cblb T A 16: 52,025,003 (GRCm39) I966K probably damaging Het
Crocc2 A T 1: 93,144,788 (GRCm39) Q1444L probably damaging Het
Dennd4c C T 4: 86,759,312 (GRCm39) P1781S probably damaging Het
Diaph3 T C 14: 87,274,958 (GRCm39) Y166C probably benign Het
Dnah5 A C 15: 28,345,977 (GRCm39) N2439T probably benign Het
Dsg3 T A 18: 20,673,271 (GRCm39) Y981N probably benign Het
Esrp2 C T 8: 106,861,350 (GRCm39) V150M probably damaging Het
Fbxo15 T G 18: 84,982,252 (GRCm39) F235V probably damaging Het
Ffar2 A T 7: 30,519,164 (GRCm39) Y125* probably null Het
Gm1110 T A 9: 26,792,154 (GRCm39) D622V probably benign Het
Gpcpd1 A G 2: 132,386,355 (GRCm39) V341A probably damaging Het
Gpx3 G A 11: 54,793,846 (GRCm39) V19I probably benign Het
Hadha T C 5: 30,347,810 (GRCm39) I160M probably damaging Het
Igkv3-4 G T 6: 70,649,147 (GRCm39) V49F probably damaging Het
Kcng1 A G 2: 168,105,018 (GRCm39) V276A probably damaging Het
Kif7 A T 7: 79,360,145 (GRCm39) V364D probably benign Het
Kirrel3 A G 9: 34,902,341 (GRCm39) I182V probably benign Het
Lfng G A 5: 140,598,981 (GRCm39) E297K probably damaging Het
Mcm9 G A 10: 53,501,856 (GRCm39) T243M possibly damaging Het
Micall1 T C 15: 79,005,080 (GRCm39) L184P probably damaging Het
Mier2 T C 10: 79,377,546 (GRCm39) D469G probably damaging Het
Mst1r T G 9: 107,791,718 (GRCm39) W799G possibly damaging Het
Mybpc1 C T 10: 88,362,291 (GRCm39) V950I probably benign Het
Neurl4 A G 11: 69,801,871 (GRCm39) D1296G probably benign Het
Or4b12 A T 2: 90,095,880 (GRCm39) M298K probably null Het
Parg T A 14: 31,930,978 (GRCm39) H199Q probably benign Het
Pcnx3 C A 19: 5,725,404 (GRCm39) D1170Y probably damaging Het
Phactr1 T A 13: 43,250,144 (GRCm39) V487E probably damaging Het
Selp T G 1: 163,957,835 (GRCm39) probably null Het
Smpd3 T C 8: 106,981,982 (GRCm39) E626G probably damaging Het
Syn3 A G 10: 86,190,265 (GRCm39) L188P probably damaging Het
Tle1 T C 4: 72,043,241 (GRCm39) I543V possibly damaging Het
Trp53rkb A G 2: 166,637,779 (GRCm39) *245W probably null Het
Ttc28 A G 5: 111,383,506 (GRCm39) R1336G probably damaging Het
Vps13b T A 15: 35,422,594 (GRCm39) W185R 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
R6101:Mief1 UTSW 15 80,133,941 (GRCm39) missense probably benign 0.00
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
R8717:Mief1 UTSW 15 80,132,584 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- AAGCATGGTAAAGCCCTTTAAAACC -3'
(R):5'- TCTAAGAGGGACCCTATGGC -3'

Sequencing Primer
(F):5'- AAACCTTCTAATTCTGGGGCCAG -3'
(R):5'- TGGCTGGCCAGTTGATG -3'
Posted On 2021-01-18