Incidental Mutation 'R3887:Fmc1'
ID 309691
Institutional Source Beutler Lab
Gene Symbol Fmc1
Ensembl Gene ENSMUSG00000019689
Gene Name formation of mitochondrial complex V assembly factor 1
Synonyms 1110001J03Rik
MMRRC Submission 040799-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R3887 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 38511796-38516384 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38516223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 90 (S90P)
Ref Sequence ENSEMBL: ENSMUSP00000019833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019833]
AlphaFold Q9CR13
Predicted Effect probably benign
Transcript: ENSMUST00000019833
AA Change: S90P

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147651
Meta Mutation Damage Score 0.2615 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T A 1: 85,868,273 (GRCm39) probably null Het
Ankdd1a C A 9: 65,409,530 (GRCm39) G469W probably damaging Het
Ano6 A C 15: 95,792,330 (GRCm39) T65P possibly damaging Het
Arhgap26 G A 18: 39,363,019 (GRCm39) probably null Het
Ccdc175 A G 12: 72,182,822 (GRCm39) I399T possibly damaging Het
Ceacam14 T A 7: 17,548,063 (GRCm39) V51D probably damaging Het
Cerk A T 15: 86,033,532 (GRCm39) I297N possibly damaging Het
Cps1 C A 1: 67,204,659 (GRCm39) T493K possibly damaging Het
Dmxl1 T A 18: 50,011,326 (GRCm39) M1161K probably damaging Het
Efcab14 T A 4: 115,595,857 (GRCm39) M1K probably null Het
Etl4 C T 2: 20,534,772 (GRCm39) Q76* probably null Het
Fn1 T C 1: 71,679,465 (GRCm39) Y511C probably damaging Het
Foxd2 T C 4: 114,765,483 (GRCm39) H179R unknown Het
Hk2 C T 6: 82,711,942 (GRCm39) D548N possibly damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Mapk12 A T 15: 89,019,840 (GRCm39) H122Q possibly damaging Het
Mdfic C T 6: 15,799,710 (GRCm39) T279I probably damaging Het
Mycbp2 A G 14: 103,412,233 (GRCm39) V2580A probably damaging Het
Mylk3 A G 8: 86,078,676 (GRCm39) I476T probably damaging Het
Ncapg G A 5: 45,831,705 (GRCm39) V184I probably benign Het
Or4a71 T A 2: 89,358,076 (GRCm39) H226L possibly damaging Het
Pla2g15 A G 8: 106,887,767 (GRCm39) Y185C probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbm45 A G 2: 76,205,768 (GRCm39) S207G probably benign Het
Reln T C 5: 22,115,847 (GRCm39) I3054V possibly damaging Het
Rreb1 G T 13: 38,077,941 (GRCm39) R51L probably damaging Het
Scube2 A T 7: 109,442,383 (GRCm39) probably benign Het
Slc15a2 A G 16: 36,602,666 (GRCm39) F65S probably damaging Het
Slc17a8 G T 10: 89,427,000 (GRCm39) probably benign Het
Snapc4 G A 2: 26,255,510 (GRCm39) Q1005* probably null Het
Stag3 A G 5: 138,297,101 (GRCm39) I550M probably damaging Het
Steap4 G T 5: 8,030,494 (GRCm39) R450L probably damaging Het
Strn4 T C 7: 16,556,923 (GRCm39) probably benign Het
Stxbp3 C T 3: 108,712,549 (GRCm39) probably null Het
Syngr1 A G 15: 80,000,240 (GRCm39) D117G probably damaging Het
Tbc1d10b A T 7: 126,798,967 (GRCm39) I513N possibly damaging Het
Other mutations in Fmc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03091:Fmc1 APN 6 38,516,170 (GRCm39) missense probably damaging 1.00
R4988:Fmc1 UTSW 6 38,511,917 (GRCm39) missense probably benign 0.26
R8428:Fmc1 UTSW 6 38,516,115 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GTGTGAACAGGCTGTCTGAC -3'
(R):5'- GAACAGCAATGAACCCAGTG -3'

Sequencing Primer
(F):5'- AACAGGCTGTCTGACTTTGC -3'
(R):5'- TAATGGGCTGAACCTCTGAACCTG -3'
Posted On 2015-04-17