Incidental Mutation 'IGL01451:Atp5k'
ID84632
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp5k
Ensembl Gene ENSMUSG00000050856
Gene NameATP synthase, H+ transporting, mitochondrial F1F0 complex, subunit E
Synonyms2610008D24Rik, Lfm1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.152) question?
Stock #IGL01451
Quality Score
Status
Chromosome5
Chromosomal Location108433244-108434448 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 108434056 bp
ZygosityHeterozygous
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]
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: 124,579,878 S23P possibly damaging Het
Adam1a T C 5: 121,519,376 Y618C probably benign Het
Amigo2 A C 15: 97,245,226 S438R probably benign Het
Dnah2 T C 11: 69,474,191 probably benign Het
Dock2 A G 11: 34,310,390 Y984H probably damaging Het
Dpysl2 T A 14: 66,807,918 I469F possibly damaging Het
Edem3 C T 1: 151,818,628 T886I probably benign Het
Gart T C 16: 91,625,512 T706A probably benign Het
Gfpt2 A T 11: 49,807,690 probably benign Het
Gm11541 T G 11: 94,695,669 D84A unknown Het
Gne T C 4: 44,041,860 probably null Het
Gria4 A T 9: 4,503,652 D321E probably benign Het
Ift122 T G 6: 115,912,604 probably null Het
Lcp2 A T 11: 34,047,345 probably benign Het
Mcm2 C T 6: 88,891,966 probably benign Het
Olfr921 A G 9: 38,775,929 I225V probably benign Het
Ptpru C A 4: 131,769,492 probably benign Het
Rpap2 T C 5: 107,603,626 probably null Het
Slc25a39 T C 11: 102,404,900 T138A probably damaging Het
St6galnac1 A C 11: 116,769,339 S49R probably benign Het
Stat1 T C 1: 52,139,343 L312P probably damaging Het
Tmem198 T C 1: 75,484,370 probably benign Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Treml4 T C 17: 48,264,995 probably benign Het
Trpm6 A G 19: 18,809,569 D503G probably damaging Het
Ttn C A 2: 76,945,273 E1854D unknown Het
Ubqln3 A T 7: 104,142,196 M229K possibly damaging Het
Zfyve9 T C 4: 108,682,260 T939A probably damaging Het
Other mutations in Atp5k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01618:Atp5k APN 5 108434033 missense probably damaging 0.96
IGL02585:Atp5k APN 5 108434070 missense probably damaging 1.00
R6284:Atp5k UTSW 5 108434059 missense probably benign 0.00
Posted On2013-11-11