Incidental Mutation 'IGL03212:Atp5pd'
ID 413336
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp5pd
Ensembl Gene ENSMUSG00000034566
Gene Name ATP synthase peripheral stalk subunit d
Synonyms 0610009D10Rik, Atp5h
Accession Numbers
Essential gene? Probably essential (E-score: 0.881) question?
Stock # IGL03212
Quality Score
Status
Chromosome 11
Chromosomal Location 115306517-115310775 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 115306597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 155 (H155N)
Ref Sequence ENSEMBL: ENSMUSP00000137071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043931] [ENSMUST00000073791] [ENSMUST00000103035] [ENSMUST00000103036] [ENSMUST00000106533] [ENSMUST00000106537] [ENSMUST00000106539] [ENSMUST00000180072] [ENSMUST00000137754] [ENSMUST00000153983]
AlphaFold Q9DCX2
Predicted Effect probably damaging
Transcript: ENSMUST00000043931
AA Change: H155N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046256
Gene: ENSMUSG00000034566
AA Change: H155N

DomainStartEndE-ValueType
Pfam:Mt_ATP-synt_D 2 161 2.7e-77 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000073791
AA Change: H155N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086072
Gene: ENSMUSG00000034566
AA Change: H155N

DomainStartEndE-ValueType
Pfam:Mt_ATP-synt_D 2 161 2.7e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103035
SMART Domains Protein: ENSMUSP00000099324
Gene: ENSMUSG00000016940

DomainStartEndE-ValueType
low complexity region 8 43 N/A INTRINSIC
low complexity region 46 71 N/A INTRINSIC
BTB 72 175 3.45e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103036
SMART Domains Protein: ENSMUSP00000099325
Gene: ENSMUSG00000018858

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
Pfam:RF-1 34 173 6.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106533
SMART Domains Protein: ENSMUSP00000102143
Gene: ENSMUSG00000016940

DomainStartEndE-ValueType
low complexity region 8 43 N/A INTRINSIC
low complexity region 46 71 N/A INTRINSIC
BTB 72 175 3.45e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106537
AA Change: H155N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102147
Gene: ENSMUSG00000034566
AA Change: H155N

DomainStartEndE-ValueType
Pfam:Mt_ATP-synt_D 3 160 5.6e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106539
SMART Domains Protein: ENSMUSP00000102149
Gene: ENSMUSG00000018858

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
PDB:1J26|A 63 142 8e-49 PDB
SCOP:d1gqea_ 98 174 2e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000180072
AA Change: H155N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137071
Gene: ENSMUSG00000034566
AA Change: H155N

DomainStartEndE-ValueType
Pfam:Mt_ATP-synt_D 2 161 2.7e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143856
Predicted Effect probably benign
Transcript: ENSMUST00000137754
SMART Domains Protein: ENSMUSP00000121240
Gene: ENSMUSG00000034566

DomainStartEndE-ValueType
Pfam:Mt_ATP-synt_D 2 138 1.8e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153983
SMART Domains Protein: ENSMUSP00000116746
Gene: ENSMUSG00000018858

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
Pfam:RF-1 66 204 1.9e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123345
SMART Domains Protein: ENSMUSP00000115862
Gene: ENSMUSG00000016940

DomainStartEndE-ValueType
low complexity region 4 39 N/A INTRINSIC
low complexity region 42 67 N/A INTRINSIC
BTB 68 171 3.45e-19 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,242,085 (GRCm39) S657P probably benign Het
Atp2c1 T A 9: 105,322,466 (GRCm39) N221I probably damaging Het
Cd55b A T 1: 130,339,179 (GRCm39) N316K probably benign Het
Celsr1 A T 15: 85,814,878 (GRCm39) M1861K probably benign Het
Cfap69 T G 5: 5,707,849 (GRCm39) probably null Het
Col7a1 C A 9: 108,803,520 (GRCm39) P2169Q unknown Het
Cyp2j5 G T 4: 96,552,055 (GRCm39) H65N probably damaging Het
Dnah5 T C 15: 28,290,309 (GRCm39) V1233A probably benign Het
Fn1 A T 1: 71,680,484 (GRCm39) L407* probably null Het
Fpr-rs3 T C 17: 20,844,121 (GRCm39) D340G probably benign Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Glmp T C 3: 88,235,664 (GRCm39) S317P probably benign Het
Gm5581 A T 6: 131,158,413 (GRCm39) noncoding transcript Het
Gm5624 A T 14: 44,798,167 (GRCm39) N103K probably benign Het
Gprin3 A G 6: 59,332,013 (GRCm39) F98S probably benign Het
Ighmbp2 A G 19: 3,329,942 (GRCm39) V104A probably damaging Het
Igkv4-79 A C 6: 69,020,214 (GRCm39) S34A probably benign Het
Igsf10 G A 3: 59,235,586 (GRCm39) P1532S probably benign Het
Myt1l A G 12: 29,877,819 (GRCm39) K490R unknown Het
Or5d46 T A 2: 88,170,016 (GRCm39) Y36N probably damaging Het
Pira13 T A 7: 3,826,132 (GRCm39) Q287L probably benign Het
Plxna1 T A 6: 89,308,885 (GRCm39) T1198S probably damaging Het
Pramel6 A G 2: 87,340,769 (GRCm39) D367G probably damaging Het
Rbm28 G T 6: 29,131,274 (GRCm39) R10S probably damaging Het
Rdh10 T G 1: 16,178,051 (GRCm39) C108G probably benign Het
Rfx7 C A 9: 72,526,443 (GRCm39) T1211K probably benign Het
Slc24a5 C A 2: 124,922,750 (GRCm39) T141N probably damaging Het
Smarca5 T A 8: 81,438,410 (GRCm39) N642I possibly damaging Het
Smchd1 C A 17: 71,750,886 (GRCm39) R344L probably damaging Het
Tmx3 T A 18: 90,556,642 (GRCm39) I355N probably damaging Het
Tram1l1 G A 3: 124,115,563 (GRCm39) G241D possibly damaging Het
Ubr4 A G 4: 139,137,074 (GRCm39) T982A probably benign Het
Vmn2r52 T G 7: 9,893,474 (GRCm39) H555P possibly damaging Het
Zbtb43 A T 2: 33,344,286 (GRCm39) M313K probably benign Het
Zfp942 A T 17: 22,148,445 (GRCm39) Y61* probably null Het
Other mutations in Atp5pd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Atp5pd APN 11 115,308,675 (GRCm39) splice site probably null
IGL02680:Atp5pd APN 11 115,306,840 (GRCm39) critical splice donor site probably null
R0129:Atp5pd UTSW 11 115,308,744 (GRCm39) missense probably damaging 0.96
R2566:Atp5pd UTSW 11 115,306,864 (GRCm39) splice site probably null
R5283:Atp5pd UTSW 11 115,306,611 (GRCm39) missense probably damaging 1.00
R8103:Atp5pd UTSW 11 115,306,851 (GRCm39) missense possibly damaging 0.88
R8270:Atp5pd UTSW 11 115,307,698 (GRCm39) missense probably damaging 1.00
R8734:Atp5pd UTSW 11 115,307,689 (GRCm39) missense possibly damaging 0.60
R9232:Atp5pd UTSW 11 115,309,221 (GRCm39) missense probably benign 0.36
Posted On 2016-08-02