Incidental Mutation 'R6350:Mief1'
ID514170
Institutional Source Beutler Lab
Gene Symbol Mief1
Ensembl Gene ENSMUSG00000022412
Gene Namemitochondrial elongation factor 1
SynonymsSmcr7l
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6350 (G1)
Quality Score225.009
Status Not validated
Chromosome15
Chromosomal Location80234018-80253371 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 80249603 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 287 (I287T)
Ref Sequence ENSEMBL: ENSMUSP00000154875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023048] [ENSMUST00000166030] [ENSMUST00000228788] [ENSMUST00000229138]
Predicted Effect probably damaging
Transcript: ENSMUST00000023048
AA Change: I287T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000023048
Gene: ENSMUSG00000022412
AA Change: I287T

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Mab-21 189 455 7.09e-84 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000166030
AA Change: I287T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129209
Gene: ENSMUSG00000022412
AA Change: I287T

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 damaging
Transcript: ENSMUST00000229138
AA Change: I287T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 82,063,563 K554E possibly damaging Het
Acsf2 T C 11: 94,558,330 M609V probably benign Het
Acsm3 A G 7: 119,768,033 T30A probably benign Het
Adam32 T C 8: 24,863,429 K715E possibly damaging Het
Cdk5r1 T C 11: 80,478,242 L245P probably damaging Het
Cntn3 A G 6: 102,170,618 V926A probably damaging Het
Csf2rb G A 15: 78,345,552 D440N probably damaging Het
D3Ertd751e T A 3: 41,753,843 H138Q probably damaging Het
D630003M21Rik A G 2: 158,220,495 L35P probably damaging Het
Faap100 A T 11: 120,374,580 V490E probably damaging Het
Il3ra A G 14: 14,348,903 D99G probably benign Het
Kcnmb1 A G 11: 33,964,711 K4R probably damaging Het
Larp1 T A 11: 58,049,831 D594E probably benign Het
Lnpep G T 17: 17,562,809 H577N probably benign Het
Mras T C 9: 99,411,507 S27G probably damaging Het
Myh7b T A 2: 155,628,760 C1043S probably benign Het
N4bp1 T C 8: 86,861,968 D114G probably damaging Het
Nsmce4a A T 7: 130,539,099 I219K probably damaging Het
Nynrin A T 14: 55,868,076 I848F probably benign Het
Olfr1318 T A 2: 112,156,197 I82N probably damaging Het
Olfr1370 T C 13: 21,072,605 E232G probably benign Het
Patj T A 4: 98,405,618 S36T probably benign Het
Pcdhb15 G A 18: 37,475,361 V549M probably damaging Het
Prl2c5 T C 13: 13,183,046 probably null Het
Ptbp3 A T 4: 59,482,624 D386E probably damaging Het
Ptpra T C 2: 130,540,592 L451P probably damaging Het
Repin1 A G 6: 48,597,628 D497G probably damaging Het
Ryr2 A G 13: 11,761,396 F1085S probably damaging Het
Slc6a18 G A 13: 73,677,925 A2V possibly damaging Het
Wee2 C T 6: 40,455,105 R203C probably damaging Het
Zmynd15 T C 11: 70,464,431 V388A probably damaging Het
Other mutations in Mief1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01897:Mief1 APN 15 80248508 splice site probably benign
R1754:Mief1 UTSW 15 80249602 missense probably damaging 0.97
R2010:Mief1 UTSW 15 80247925 missense possibly damaging 0.95
R4379:Mief1 UTSW 15 80247959 missense possibly damaging 0.86
R4609:Mief1 UTSW 15 80248253 missense probably benign 0.12
R4789:Mief1 UTSW 15 80247879 nonsense probably null
R5862:Mief1 UTSW 15 80248385 missense probably benign 0.01
R6101:Mief1 UTSW 15 80249740 missense probably benign 0.00
R6605:Mief1 UTSW 15 80248491 nonsense probably null
R6944:Mief1 UTSW 15 80249443 missense probably damaging 1.00
R7197:Mief1 UTSW 15 80249860 missense possibly damaging 0.94
R7316:Mief1 UTSW 15 80249397 missense probably damaging 0.99
R7905:Mief1 UTSW 15 80249398 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTGGTTCGTCGTGAGAAC -3'
(R):5'- CCTTGAGGATCTTGAGGCAAAG -3'

Sequencing Primer
(F):5'- GTCGTGAGAACCCAGAGTACTTTC -3'
(R):5'- TGGTCCAAAGCCCGTAAGC -3'
Posted On2018-04-27