Incidental Mutation 'R5862:Mief1'
ID453983
Institutional Source Beutler Lab
Gene Symbol Mief1
Ensembl Gene ENSMUSG00000022412
Gene Namemitochondrial elongation factor 1
SynonymsSmcr7l
MMRRC Submission 043231-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5862 (G1)
Quality Score225
Status Not validated
Chromosome15
Chromosomal Location80234018-80253371 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 80248385 bp
ZygosityHeterozygous
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]
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: 179,788,330 Y326H probably damaging Het
Alpk2 T A 18: 65,307,289 K811N probably damaging Het
Ap3b1 T A 13: 94,547,770 M1014K unknown Het
Bphl G A 13: 34,063,984 V247I possibly damaging Het
C6 A T 15: 4,735,263 D147V possibly damaging Het
Clec18a G A 8: 111,081,558 H71Y possibly damaging Het
Cse1l A G 2: 166,915,207 T10A probably benign Het
Cyp2b9 G T 7: 26,187,807 G214C probably benign Het
Dctn6 A T 8: 34,108,417 probably null Het
Dnaja4 G T 9: 54,699,341 probably benign Het
Dpp8 A T 9: 65,045,722 S227C probably benign Het
Ecel1 T C 1: 87,149,596 N630S probably benign Het
Etnppl T C 3: 130,631,824 V426A possibly damaging Het
Golgb1 A T 16: 36,926,091 silent Het
H2afy T A 13: 56,074,271 I359L probably damaging Het
Hapln3 A T 7: 79,121,891 H83Q possibly damaging Het
Hmgxb4 A G 8: 75,001,055 K222R probably damaging Het
Hsf5 C A 11: 87,622,991 T294K probably damaging Het
Ighv12-2 A G 12: 114,127,937 noncoding transcript Het
Lrch3 A T 16: 32,995,809 H587L probably damaging Het
Mboat1 C T 13: 30,235,697 T339M probably damaging Het
Ms4a6b T A 19: 11,521,803 F94I probably benign Het
Neb T A 2: 52,179,542 R307* probably null Het
Neu4 A G 1: 94,022,930 I147V probably benign Het
Olfr1036 T C 2: 86,075,646 I302T probably benign Het
Pcyox1 A G 6: 86,391,674 probably null Het
Pik3ap1 T A 19: 41,332,345 D145V probably damaging Het
Pja2 T C 17: 64,297,826 D454G probably benign Het
Plekhg1 C T 10: 3,937,914 T281M probably damaging Het
Ptprq T C 10: 107,565,878 I1918V probably benign Het
Rasgef1a A C 6: 118,080,444 R35S probably benign Het
Rnf167 A G 11: 70,651,092 T308A probably damaging Het
Sfmbt2 C T 2: 10,402,052 T54I possibly damaging Het
Sh3bp5 C A 14: 31,377,495 R265L probably benign Het
Shkbp1 G T 7: 27,343,404 S536* probably null Het
Taf2 C A 15: 55,048,323 V566L possibly damaging Het
Tmed6 G T 8: 107,064,154 T87K probably damaging Het
Tyms A T 5: 30,063,410 D97E probably damaging Het
Usp20 T A 2: 31,006,449 L188* probably null Het
Zbtb10 T A 3: 9,265,216 S545T probably damaging Het
Zscan29 G T 2: 121,164,037 T489N 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
R6101:Mief1 UTSW 15 80249740 missense probably benign 0.00
R6350:Mief1 UTSW 15 80249603 missense probably damaging 1.00
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'- CTAAGCAAGCTTGGGCAGAG -3'
(R):5'- GCCCAGGAACAAATGACTTTC -3'

Sequencing Primer
(F):5'- GCAGAGCTCACATGCCTCTC -3'
(R):5'- TTGATAATCCCCACCACTGCGG -3'
Posted On2017-02-10