Incidental Mutation 'R4379:Mief1'
ID 325261
Institutional Source Beutler Lab
Gene Symbol Mief1
Ensembl Gene ENSMUSG00000022412
Gene Name mitochondrial elongation factor 1
Synonyms Smcr7l
MMRRC Submission 041677-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4379 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 80118284-80137572 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 80132160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 77 (M77R)
Ref Sequence ENSEMBL: ENSMUSP00000154748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023048] [ENSMUST00000166030] [ENSMUST00000228788] [ENSMUST00000229138]
AlphaFold Q8BGV8
Predicted Effect probably benign
Transcript: ENSMUST00000023048
AA Change: M77R

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000023048
Gene: ENSMUSG00000022412
AA Change: M77R

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: M77R

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000129209
Gene: ENSMUSG00000022412
AA Change: M77R

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Mab-21 189 455 7.09e-84 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000228788
AA Change: M77R

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228965
Predicted Effect probably benign
Transcript: ENSMUST00000229138
AA Change: M77R

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
Meta Mutation Damage Score 0.2152 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 95% (53/56)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C A 5: 8,915,875 (GRCm39) H1252Q probably benign Het
Adcy3 T C 12: 4,184,558 (GRCm39) L78P probably damaging Het
Agmat G T 4: 141,484,802 (GRCm39) A282S probably benign Het
Akap8 G T 17: 32,525,534 (GRCm39) T515K probably damaging Het
Akap8l T C 17: 32,540,488 (GRCm39) probably benign Het
Alpk1 C T 3: 127,523,022 (GRCm39) V7M probably damaging Het
AW209491 T C 13: 14,812,412 (GRCm39) *422Q probably null Het
Cdan1 A G 2: 120,557,099 (GRCm39) F576L probably damaging Het
Cers5 A G 15: 99,649,134 (GRCm39) F45L probably damaging Het
Dst A G 1: 34,267,056 (GRCm39) I5011V probably benign Het
Dst T C 1: 34,202,316 (GRCm39) S215P probably damaging Het
En1 A G 1: 120,531,084 (GRCm39) N108S possibly damaging Het
Entrep3 A T 3: 89,093,064 (GRCm39) D274V probably damaging Het
Fancd2 T C 6: 113,538,677 (GRCm39) S591P probably benign Het
Glt1d1 T C 5: 127,771,346 (GRCm39) V279A possibly damaging Het
Gm10051 C T 5: 133,504,287 (GRCm39) noncoding transcript Het
Gpr158 G T 2: 21,830,025 (GRCm39) G690V probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Grm7 T A 6: 111,223,335 (GRCm39) N458K probably benign Het
Hibadh G A 6: 52,597,027 (GRCm39) S139L probably damaging Het
Hivep1 C T 13: 42,308,906 (GRCm39) S382F probably damaging Het
Ift74 A G 4: 94,568,171 (GRCm39) N403D probably benign Het
Igkv4-81 A G 6: 68,967,933 (GRCm39) L56S probably damaging Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lmbr1l G T 15: 98,807,144 (GRCm39) C212* probably null Het
Lrp10 C T 14: 54,705,823 (GRCm39) R338C probably damaging Het
Lrrc34 A G 3: 30,685,524 (GRCm39) L275P probably damaging Het
Mgam2-ps T C 6: 40,810,793 (GRCm39) noncoding transcript Het
Neurod6 T C 6: 55,656,257 (GRCm39) T127A probably damaging Het
Nif3l1 A C 1: 58,494,738 (GRCm39) probably benign Het
Nlrp12 T A 7: 3,288,554 (GRCm39) T653S probably benign Het
Nol7 G T 13: 43,555,051 (GRCm39) W228L probably damaging Het
Nrp1 G A 8: 129,194,948 (GRCm39) R468H probably damaging Het
Or5ac15 C T 16: 58,940,027 (GRCm39) M135I probably benign Het
Or7g34 A G 9: 19,478,038 (GRCm39) L211P probably benign Het
Pbrm1 A T 14: 30,789,663 (GRCm39) H785L probably damaging Het
Pus7 T C 5: 23,953,864 (GRCm39) probably benign Het
Qser1 G T 2: 104,596,404 (GRCm39) probably null Het
Rrm1 T C 7: 102,095,800 (GRCm39) V51A probably damaging Het
Setbp1 T C 18: 79,129,896 (GRCm39) N112S probably damaging Het
Svil C T 18: 5,046,909 (GRCm39) H52Y probably damaging Het
Taf1d T A 9: 15,223,277 (GRCm39) probably benign Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Treml1 A G 17: 48,667,424 (GRCm39) Y103C probably damaging Het
Trim28 A T 7: 12,763,407 (GRCm39) D516V probably damaging Het
Usp34 T A 11: 23,334,499 (GRCm39) N1164K possibly damaging Het
Vmn2r115 A G 17: 23,564,197 (GRCm39) Y123C possibly damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zfp28 C T 7: 6,396,441 (GRCm39) T292I probably benign Het
Zmynd8 A T 2: 165,649,858 (GRCm39) probably null Het
Zscan4d A G 7: 10,898,905 (GRCm39) V124A probably benign 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
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
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'- AACTTAATGGGGCAGAGTCG -3'
(R):5'- TCCCAGTCCCAGGAAGGAAAAG -3'

Sequencing Primer
(F):5'- GCAGAGTCGGGGGAAGG -3'
(R):5'- GCAAACTGCCTGACATTCCCTG -3'
Posted On 2015-07-06