Incidental Mutation 'IGL01451:Atp5me'
ID 84632
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp5me
Ensembl Gene ENSMUSG00000050856
Gene Name ATP synthase membrane subunit e
Synonyms 2610008D24Rik, Atp5k, Lfm1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # IGL01451
Quality Score
Status
Chromosome 5
Chromosomal Location 108581112-108582265 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108581922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 21 (I21V)
Ref Sequence ENSEMBL: ENSMUSP00000113882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031456] [ENSMUST00000049628] [ENSMUST00000118632]
AlphaFold Q06185
Predicted Effect probably benign
Transcript: ENSMUST00000031456
SMART Domains Protein: ENSMUSP00000031456
Gene: ENSMUSG00000029491

DomainStartEndE-ValueType
GAF 71 230 1.29e-27 SMART
GAF 252 439 5.76e-25 SMART
Blast:HDc 484 538 1e-24 BLAST
HDc 554 732 1.25e-9 SMART
Blast:HDc 757 792 8e-13 BLAST
low complexity region 813 837 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000049628
AA Change: I21V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000051222
Gene: ENSMUSG00000050856
AA Change: I21V

DomainStartEndE-ValueType
Pfam:ATP-synt_E 2 69 6.3e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118632
AA Change: I21V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134865
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik A G 3: 124,373,527 (GRCm39) S23P possibly damaging Het
Adam1a T C 5: 121,657,439 (GRCm39) Y618C probably benign Het
Amigo2 A C 15: 97,143,107 (GRCm39) S438R probably benign Het
Dnah2 T C 11: 69,365,017 (GRCm39) probably benign Het
Dock2 A G 11: 34,260,390 (GRCm39) Y984H probably damaging Het
Dpysl2 T A 14: 67,045,367 (GRCm39) I469F possibly damaging Het
Edem3 C T 1: 151,694,379 (GRCm39) T886I probably benign Het
Gart T C 16: 91,422,400 (GRCm39) T706A probably benign Het
Gfpt2 A T 11: 49,698,517 (GRCm39) probably benign Het
Gm11541 T G 11: 94,586,495 (GRCm39) D84A unknown Het
Gne T C 4: 44,041,860 (GRCm39) probably null Het
Gria4 A T 9: 4,503,652 (GRCm39) D321E probably benign Het
Ift122 T G 6: 115,889,565 (GRCm39) probably null Het
Lcp2 A T 11: 33,997,345 (GRCm39) probably benign Het
Mcm2 C T 6: 88,868,948 (GRCm39) probably benign Het
Or8b54 A G 9: 38,687,225 (GRCm39) I225V probably benign Het
Ptpru C A 4: 131,496,803 (GRCm39) probably benign Het
Rpap2 T C 5: 107,751,492 (GRCm39) probably null Het
Slc25a39 T C 11: 102,295,726 (GRCm39) T138A probably damaging Het
St6galnac1 A C 11: 116,660,165 (GRCm39) S49R probably benign Het
Stat1 T C 1: 52,178,502 (GRCm39) L312P probably damaging Het
Tmem198 T C 1: 75,461,014 (GRCm39) probably benign Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Treml4 T C 17: 48,572,023 (GRCm39) probably benign Het
Trpm6 A G 19: 18,786,933 (GRCm39) D503G probably damaging Het
Ttn C A 2: 76,775,617 (GRCm39) E1854D unknown Het
Ubqln3 A T 7: 103,791,403 (GRCm39) M229K possibly damaging Het
Zfyve9 T C 4: 108,539,457 (GRCm39) T939A probably damaging Het
Other mutations in Atp5me
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01618:Atp5me APN 5 108,581,899 (GRCm39) missense probably damaging 0.96
IGL02585:Atp5me APN 5 108,581,936 (GRCm39) missense probably damaging 1.00
R6284:Atp5me UTSW 5 108,581,925 (GRCm39) missense probably benign 0.00
Posted On 2013-11-11