Incidental Mutation 'IGL01861:Ptcd1'
ID178328
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptcd1
Ensembl Gene ENSMUSG00000029624
Gene Namepentatricopeptide repeat domain 1
Synonyms1110069M14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #IGL01861
Quality Score
Status
Chromosome5
Chromosomal Location145147514-145167108 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 145158777 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 291 (I291N)
Ref Sequence ENSEMBL: ENSMUSP00000031628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031628]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031628
AA Change: I291N

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031628
Gene: ENSMUSG00000029624
AA Change: I291N

DomainStartEndE-ValueType
low complexity region 48 58 N/A INTRINSIC
low complexity region 64 74 N/A INTRINSIC
low complexity region 110 123 N/A INTRINSIC
Pfam:PPR_2 169 218 1.2e-16 PFAM
Pfam:PPR 172 202 1.1e-9 PFAM
Pfam:PPR_3 173 204 2.5e-5 PFAM
Pfam:PPR_3 245 278 3.2e-5 PFAM
Pfam:PPR 246 276 6.5e-4 PFAM
internal_repeat_1 437 595 1.57e-9 PROSPERO
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents naturally occurring read-through transcription between the ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and PTCD1 (pentatricopeptide repeat domain 1) genes on chromosome 7. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]
PHENOTYPE: Knockout affects mitochondrial protein synthesis and RNA metabolism. Homozygous KO is embryonic lethal. Heterozygous KO causes adult onset obesity, liver fibrosis and cardiac hypertrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrdc5 T C 17: 56,300,144 T34A possibly damaging Het
Atm C A 9: 53,494,612 R1252L probably null Het
Cd34 T C 1: 194,958,580 probably benign Het
Cmya5 A G 13: 93,089,748 V2944A probably damaging Het
Cntnap3 C T 13: 64,799,108 G169D probably damaging Het
Dnah7a T A 1: 53,640,349 T326S probably benign Het
Dnah7a C T 1: 53,584,449 probably benign Het
Fam133b A G 5: 3,564,242 probably benign Het
Fhod1 A G 8: 105,331,176 S906P probably damaging Het
Gli3 A G 13: 15,725,325 Y1099C probably damaging Het
Gpr63 C T 4: 25,008,545 T423M probably damaging Het
Hpx A T 7: 105,592,186 Y339* probably null Het
Lingo2 A T 4: 35,709,526 D151E probably benign Het
Mill2 A T 7: 18,856,640 Q215L probably damaging Het
Naf1 T C 8: 66,864,533 probably benign Het
Ndufv1 A G 19: 4,008,803 V235A probably benign Het
Olfr890 T C 9: 38,143,750 I205T probably damaging Het
Pafah1b1 A T 11: 74,690,577 N22K possibly damaging Het
Prune1 G T 3: 95,265,557 R66S probably damaging Het
Ptprk A G 10: 28,383,445 I294V possibly damaging Het
Rfx6 G A 10: 51,721,579 V471M probably damaging Het
Rnase6 C A 14: 51,130,291 Q47K probably benign Het
Skint5 T C 4: 113,559,824 probably benign Het
Srcap T A 7: 127,525,285 probably benign Het
Stap1 A G 5: 86,096,524 I217V possibly damaging Het
Taf1d T C 9: 15,308,739 probably null Het
Tecta T C 9: 42,373,362 H809R probably benign Het
Tex15 A G 8: 33,570,689 N49S probably damaging Het
Tubb4b-ps1 A G 5: 7,179,374 probably benign Het
Uhrf2 A G 19: 30,086,404 Y589C probably damaging Het
Zfp616 A T 11: 74,082,916 T4S possibly damaging Het
Zfp687 A T 3: 95,011,860 F200L probably damaging Het
Other mutations in Ptcd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00858:Ptcd1 APN 5 145151282 unclassified probably benign
IGL00984:Ptcd1 APN 5 145165429 missense probably benign
IGL01120:Ptcd1 APN 5 145152243 unclassified probably benign
IGL01545:Ptcd1 APN 5 145159536 missense probably damaging 1.00
IGL02543:Ptcd1 APN 5 145154687 missense possibly damaging 0.66
IGL02835:Ptcd1 UTSW 5 145154690 missense possibly damaging 0.78
PIT4366001:Ptcd1 UTSW 5 145151335 missense probably benign 0.01
PIT4494001:Ptcd1 UTSW 5 145155358 missense probably benign 0.01
R3001:Ptcd1 UTSW 5 145159576 missense probably damaging 0.98
R3002:Ptcd1 UTSW 5 145159576 missense probably damaging 0.98
R4460:Ptcd1 UTSW 5 145159506 missense probably benign 0.25
R4587:Ptcd1 UTSW 5 145154721 missense possibly damaging 0.47
R4652:Ptcd1 UTSW 5 145155175 missense probably benign 0.01
R5059:Ptcd1 UTSW 5 145152224 missense probably benign 0.07
R5364:Ptcd1 UTSW 5 145151431 missense probably damaging 0.99
R5367:Ptcd1 UTSW 5 145147905 utr 3 prime probably benign
R5733:Ptcd1 UTSW 5 145154861 missense probably damaging 1.00
R5800:Ptcd1 UTSW 5 145159665 missense probably damaging 0.99
R6281:Ptcd1 UTSW 5 145165071 missense probably benign 0.10
R6931:Ptcd1 UTSW 5 145155075 missense probably benign 0.00
R7472:Ptcd1 UTSW 5 145154730 missense possibly damaging 0.94
R7723:Ptcd1 UTSW 5 145154829 missense probably damaging 1.00
R7731:Ptcd1 UTSW 5 145151364 missense probably benign 0.07
Posted On2014-05-07