Incidental Mutation 'R8285:Atp5pf'
ID 638438
Institutional Source Beutler Lab
Gene Symbol Atp5pf
Ensembl Gene ENSMUSG00000022890
Gene Name ATP synthase peripheral stalk subunit F6
Synonyms Atp5j
MMRRC Submission 067653-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.336) question?
Stock # R8285 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 84624754-84632495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84625390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 71 (L71P)
Ref Sequence ENSEMBL: ENSMUSP00000023608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023608] [ENSMUST00000114191] [ENSMUST00000114193] [ENSMUST00000114195] [ENSMUST00000138279]
AlphaFold P97450
Predicted Effect probably damaging
Transcript: ENSMUST00000023608
AA Change: L71P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023608
Gene: ENSMUSG00000022890
AA Change: L71P

DomainStartEndE-ValueType
Pfam:ATP-synt_F6 1 97 2.7e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114191
AA Change: L71P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109829
Gene: ENSMUSG00000022890
AA Change: L71P

DomainStartEndE-ValueType
Pfam:ATP-synt_F6 1 97 5.6e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114193
AA Change: L71P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109831
Gene: ENSMUSG00000022890
AA Change: L71P

DomainStartEndE-ValueType
Pfam:ATP-synt_F6 1 97 2.7e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114195
SMART Domains Protein: ENSMUSP00000109833
Gene: ENSMUSG00000053062

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IG 36 132 7.7e-5 SMART
IGc2 147 221 1.06e-11 SMART
low complexity region 240 253 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000138279
AA Change: L71P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122527
Gene: ENSMUSG00000022890
AA Change: L71P

DomainStartEndE-ValueType
Pfam:ATP-synt_F6 1 92 4.5e-39 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a component of mitochondrial adenosine triphosphate synthase, which catalyzes the conversion of ATP from ADP. Mitochondrial adenosine triphosphate synthase consists of extrinsic and intrinsic membrane domains that are joined by a stalk. The protein encoded by this gene is a subunit of the stalk domain. A bi-directional promoter that drives expression of this gene has been has been identified. Pseudogenes of this gene are found on chromosomes 14 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 A G 10: 88,904,079 (GRCm39) I206T probably damaging Het
Bcar3 A T 3: 122,306,383 (GRCm39) I468F probably benign Het
Ddi1 T A 9: 6,265,808 (GRCm39) Q187L probably benign Het
Dgkh T C 14: 78,865,566 (GRCm39) N139D probably benign Het
Fan1 A T 7: 64,016,348 (GRCm39) I592N probably damaging Het
Fchsd2 T C 7: 100,883,128 (GRCm39) F252S possibly damaging Het
Gad2 T A 2: 22,514,940 (GRCm39) N139K probably benign Het
Gm12695 G A 4: 96,657,990 (GRCm39) R60W possibly damaging Het
Gucy1b2 A G 14: 62,657,556 (GRCm39) V224A probably damaging Het
Hspg2 A G 4: 137,239,974 (GRCm39) D514G probably benign Het
Igsf23 T C 7: 19,675,881 (GRCm39) D113G possibly damaging Het
Inhbc T C 10: 127,206,010 (GRCm39) T86A probably benign Het
Itga11 T C 9: 62,659,540 (GRCm39) S431P probably damaging Het
Kif13b A G 14: 65,019,825 (GRCm39) H1398R probably benign Het
Lce1f T C 3: 92,626,238 (GRCm39) S140G unknown Het
Mapt T A 11: 104,189,628 (GRCm39) D215E probably benign Het
Maz T C 7: 126,624,644 (GRCm39) Y292C possibly damaging Het
Mfsd8 G A 3: 40,789,628 (GRCm39) R140C probably damaging Het
Mpo A G 11: 87,688,393 (GRCm39) M351V probably benign Het
Muc16 G A 9: 18,554,273 (GRCm39) P4007S unknown Het
Or4k47 A T 2: 111,452,390 (GRCm39) S10T probably benign Het
Or5h26 G A 16: 58,988,176 (GRCm39) T110I probably benign Het
Or5t9 T C 2: 86,659,443 (GRCm39) F116L probably benign Het
Ppp3ca A G 3: 136,587,205 (GRCm39) D229G probably damaging Het
Pramel25 T A 4: 143,520,636 (GRCm39) D293E probably benign Het
Rab39 A T 9: 53,617,231 (GRCm39) I62N probably damaging Het
Rgs6 A G 12: 83,162,949 (GRCm39) E385G probably benign Het
Scaf8 T C 17: 3,227,404 (GRCm39) S340P unknown Het
Scpep1 A G 11: 88,843,293 (GRCm39) L55P probably damaging Het
Sorbs2 T C 8: 46,249,104 (GRCm39) L785P probably damaging Het
Supt16 A T 14: 52,418,540 (GRCm39) V239E possibly damaging Het
Usf3 T C 16: 44,041,207 (GRCm39) S1896P probably damaging Het
Xrcc1 G A 7: 24,271,703 (GRCm39) R562H probably damaging Het
Zfhx4 C T 3: 5,466,916 (GRCm39) T2383I probably benign Het
Other mutations in Atp5pf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Atp5pf APN 16 84,625,360 (GRCm39) missense probably benign 0.04
IGL02465:Atp5pf APN 16 84,625,358 (GRCm39) missense probably damaging 0.99
R4509:Atp5pf UTSW 16 84,624,862 (GRCm39) missense probably benign 0.01
R4510:Atp5pf UTSW 16 84,624,862 (GRCm39) missense probably benign 0.01
R4511:Atp5pf UTSW 16 84,624,862 (GRCm39) missense probably benign 0.01
R4648:Atp5pf UTSW 16 84,625,343 (GRCm39) missense probably benign 0.01
R4845:Atp5pf UTSW 16 84,628,365 (GRCm39) missense possibly damaging 0.56
R5973:Atp5pf UTSW 16 84,625,328 (GRCm39) splice site probably null
R7449:Atp5pf UTSW 16 84,628,251 (GRCm39) missense probably benign 0.09
R9537:Atp5pf UTSW 16 84,625,358 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CATATCATTAACAGGAGCATAGTCCC -3'
(R):5'- GTACCTCCTCTCAGAAACCCTG -3'

Sequencing Primer
(F):5'- AGGAGCATAGTCCCAGCTCTAG -3'
(R):5'- AGATGCAGAGAGAATAGTCATTTTTC -3'
Posted On 2020-07-28