Incidental Mutation 'R5862:Mief1'
ID 453983
Institutional Source Beutler Lab
Gene Symbol Mief1
Ensembl Gene ENSMUSG00000022412
Gene Name mitochondrial elongation factor 1
Synonyms Smcr7l
MMRRC Submission 043231-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5862 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 80118284-80137572 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80132586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 156 (R156Q)
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: R156Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000023048
Gene: ENSMUSG00000022412
AA Change: R156Q

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: R156Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000129209
Gene: ENSMUSG00000022412
AA Change: R156Q

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Mab-21 189 455 7.09e-84 SMART
Predicted Effect silent
Transcript: ENSMUST00000228788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228965
Predicted Effect probably benign
Transcript: ENSMUST00000229138
AA Change: R156Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A G 1: 179,615,895 (GRCm39) Y326H probably damaging Het
Alpk2 T A 18: 65,440,360 (GRCm39) K811N probably damaging Het
Ap3b1 T A 13: 94,684,278 (GRCm39) M1014K unknown Het
Bphl G A 13: 34,247,967 (GRCm39) V247I possibly damaging Het
C6 A T 15: 4,764,745 (GRCm39) D147V possibly damaging Het
Clec18a G A 8: 111,808,190 (GRCm39) H71Y possibly damaging Het
Cse1l A G 2: 166,757,127 (GRCm39) T10A probably benign Het
Cyp2b9 G T 7: 25,887,232 (GRCm39) G214C probably benign Het
Dctn6 A T 8: 34,575,571 (GRCm39) probably null Het
Dnaja4 G T 9: 54,606,625 (GRCm39) probably benign Het
Dpp8 A T 9: 64,953,004 (GRCm39) S227C probably benign Het
Ecel1 T C 1: 87,077,318 (GRCm39) N630S probably benign Het
Etnppl T C 3: 130,425,473 (GRCm39) V426A possibly damaging Het
Golgb1 A T 16: 36,746,453 (GRCm39) silent Het
Hapln3 A T 7: 78,771,639 (GRCm39) H83Q possibly damaging Het
Hmgxb4 A G 8: 75,727,683 (GRCm39) K222R probably damaging Het
Hsf5 C A 11: 87,513,817 (GRCm39) T294K probably damaging Het
Ighv12-2 A G 12: 114,091,557 (GRCm39) noncoding transcript Het
Lrch3 A T 16: 32,816,179 (GRCm39) H587L probably damaging Het
Macroh2a1 T A 13: 56,222,084 (GRCm39) I359L probably damaging Het
Mboat1 C T 13: 30,419,680 (GRCm39) T339M probably damaging Het
Ms4a6b T A 19: 11,499,167 (GRCm39) F94I probably benign Het
Neb T A 2: 52,069,554 (GRCm39) R307* probably null Het
Neu4 A G 1: 93,950,652 (GRCm39) I147V probably benign Het
Or5m9b T C 2: 85,905,990 (GRCm39) I302T probably benign Het
Pcyox1 A G 6: 86,368,656 (GRCm39) probably null Het
Pik3ap1 T A 19: 41,320,784 (GRCm39) D145V probably damaging Het
Pja2 T C 17: 64,604,821 (GRCm39) D454G probably benign Het
Plekhg1 C T 10: 3,887,914 (GRCm39) T281M probably damaging Het
Ptprq T C 10: 107,401,739 (GRCm39) I1918V probably benign Het
Rasgef1a A C 6: 118,057,405 (GRCm39) R35S probably benign Het
Rnf167 A G 11: 70,541,918 (GRCm39) T308A probably damaging Het
Sfmbt2 C T 2: 10,406,863 (GRCm39) T54I possibly damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Shkbp1 G T 7: 27,042,829 (GRCm39) S536* probably null Het
Taf2 C A 15: 54,911,719 (GRCm39) V566L possibly damaging Het
Tmed6 G T 8: 107,790,786 (GRCm39) T87K probably damaging Het
Tyms A T 5: 30,268,408 (GRCm39) D97E probably damaging Het
Usp20 T A 2: 30,896,461 (GRCm39) L188* probably null Het
Zbtb10 T A 3: 9,330,276 (GRCm39) S545T probably damaging Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N 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
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
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'- CTAAGCAAGCTTGGGCAGAG -3'
(R):5'- GCCCAGGAACAAATGACTTTC -3'

Sequencing Primer
(F):5'- GCAGAGCTCACATGCCTCTC -3'
(R):5'- TTGATAATCCCCACCACTGCGG -3'
Posted On 2017-02-10