Incidental Mutation 'IGL01367:Atp5pf'
ID 75985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp5pf
Ensembl Gene ENSMUSG00000022890
Gene Name ATP synthase peripheral stalk subunit F6
Synonyms Atp5j
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.336) question?
Stock # IGL01367
Quality Score
Status
Chromosome 16
Chromosomal Location 84624754-84632495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84625360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 81 (M81T)
Ref Sequence ENSEMBL: ENSMUSP00000122527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023608] [ENSMUST00000114191] [ENSMUST00000114193] [ENSMUST00000114195] [ENSMUST00000138279]
AlphaFold P97450
Predicted Effect probably benign
Transcript: ENSMUST00000023608
AA Change: M81T

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000023608
Gene: ENSMUSG00000022890
AA Change: M81T

DomainStartEndE-ValueType
Pfam:ATP-synt_F6 1 97 2.7e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114191
AA Change: M81T

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000109829
Gene: ENSMUSG00000022890
AA Change: M81T

DomainStartEndE-ValueType
Pfam:ATP-synt_F6 1 97 5.6e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114193
AA Change: M81T

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000109831
Gene: ENSMUSG00000022890
AA Change: M81T

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 noncoding transcript
Transcript: ENSMUST00000127651
Predicted Effect probably benign
Transcript: ENSMUST00000138279
AA Change: M81T

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000122527
Gene: ENSMUSG00000022890
AA Change: M81T

DomainStartEndE-ValueType
Pfam:ATP-synt_F6 1 92 4.5e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144799
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik A G 11: 30,404,843 (GRCm39) V20A possibly damaging Het
Alk T C 17: 72,207,781 (GRCm39) I985V probably damaging Het
Anapc2 A C 2: 25,164,794 (GRCm39) R59S possibly damaging Het
Ankhd1 T A 18: 36,711,696 (GRCm39) D165E probably benign Het
Asb8 A T 15: 98,034,054 (GRCm39) V167D probably damaging Het
Bcl7b A G 5: 135,208,950 (GRCm39) T138A probably damaging Het
Cdh23 A G 10: 60,146,566 (GRCm39) L2869P probably damaging Het
Chl1 T C 6: 103,706,186 (GRCm39) S1174P probably benign Het
Clec2g T C 6: 128,925,699 (GRCm39) I36T unknown Het
Denr A G 5: 124,046,182 (GRCm39) D4G probably benign Het
Dnajc10 T C 2: 80,155,096 (GRCm39) probably benign Het
Egf C T 3: 129,496,104 (GRCm39) probably null Het
Galnt10 A C 11: 57,616,409 (GRCm39) Y108S probably damaging Het
Gls C T 1: 52,207,558 (GRCm39) G602D probably damaging Het
Grb10 G T 11: 11,895,599 (GRCm39) Q242K probably damaging Het
Hspg2 A T 4: 137,265,800 (GRCm39) Y1837F probably damaging Het
Ikzf1 G T 11: 11,698,358 (GRCm39) A70S probably benign Het
Il17ra T C 6: 120,458,426 (GRCm39) Y526H probably damaging Het
Il34 A T 8: 111,469,375 (GRCm39) I186N possibly damaging Het
Iqca1 G A 1: 89,998,350 (GRCm39) probably benign Het
Kntc1 A G 5: 123,896,546 (GRCm39) Y136C probably damaging Het
Man2b2 A T 5: 36,971,681 (GRCm39) Y257* probably null Het
Map3k19 A G 1: 127,752,088 (GRCm39) F421S possibly damaging Het
Melk A G 4: 44,332,907 (GRCm39) T288A possibly damaging Het
Mpp2 T C 11: 101,954,135 (GRCm39) E187G probably damaging Het
Mtf2 A G 5: 108,252,323 (GRCm39) T394A probably benign Het
Neil2 A G 14: 63,429,177 (GRCm39) S39P probably damaging Het
Or4e5 T A 14: 52,727,624 (GRCm39) I266F probably benign Het
Pcdh7 A G 5: 58,286,566 (GRCm39) E1214G possibly damaging Het
Pcdhb17 G T 18: 37,620,548 (GRCm39) Q779H probably benign Het
Pik3c2b A G 1: 133,033,726 (GRCm39) I1577V probably benign Het
Pkp3 C T 7: 140,663,989 (GRCm39) P389S probably damaging Het
Ppp4r2 T A 6: 100,841,706 (GRCm39) Y92* probably null Het
Rnf13 T C 3: 57,714,508 (GRCm39) I189T probably benign Het
Serpinf2 T C 11: 75,328,871 (GRCm39) D53G probably benign Het
Slc47a2 T A 11: 61,220,607 (GRCm39) T184S probably benign Het
Sned1 T C 1: 93,210,936 (GRCm39) I1008T probably benign Het
Sorcs3 A T 19: 48,784,814 (GRCm39) E1079V probably damaging Het
Trappc8 G A 18: 20,999,176 (GRCm39) S318L probably benign Het
Trappc9 A G 15: 72,462,002 (GRCm39) S909P probably benign Het
Ttn G A 2: 76,560,483 (GRCm39) T29306I probably damaging Het
Twnk G A 19: 45,000,090 (GRCm39) R602Q possibly damaging Het
Vmn2r15 A T 5: 109,441,075 (GRCm39) I261K probably damaging Het
Vmn2r77 G A 7: 86,461,124 (GRCm39) A817T probably damaging Het
Other mutations in Atp5pf
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8285:Atp5pf UTSW 16 84,625,390 (GRCm39) missense probably damaging 0.99
R9537:Atp5pf UTSW 16 84,625,358 (GRCm39) missense probably damaging 0.99
Posted On 2013-10-07