Incidental Mutation 'IGL01545:Ptcd1'
ID90294
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: 0.151) question?
Stock #IGL01545
Quality Score
Status
Chromosome5
Chromosomal Location145147514-145167108 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 145159536 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 249 (H249L)
Ref Sequence ENSEMBL: ENSMUSP00000031628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031628]
Predicted Effect probably damaging
Transcript: ENSMUST00000031628
AA Change: H249L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000031628
Gene: ENSMUSG00000029624
AA Change: H249L

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik G A 11: 30,426,228 S213L probably benign Het
Adgrv1 A G 13: 81,466,184 I4030T possibly damaging Het
Ap4b1 G A 3: 103,812,827 R55H probably benign Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Atp6v1h T A 1: 5,089,059 M55K probably benign Het
B3galt4 A C 17: 33,951,213 V17G probably benign Het
Cd79a A T 7: 24,901,266 M172L probably benign Het
Cry1 A T 10: 85,184,362 L37H possibly damaging Het
D430042O09Rik A G 7: 125,752,971 probably null Het
D5Ertd615e A T 5: 45,169,413 noncoding transcript Het
Dnah17 A T 11: 118,119,568 L308Q probably damaging Het
Dnah7a C T 1: 53,518,782 A2158T probably benign Het
Dusp2 A G 2: 127,337,775 T313A probably benign Het
Fam110c T C 12: 31,074,983 S315P probably damaging Het
Fcer2a G A 8: 3,683,598 R198* probably null Het
Fryl G A 5: 73,054,597 T2359M probably damaging Het
Gm14221 G A 2: 160,568,383 noncoding transcript Het
Gpc6 T G 14: 117,964,830 L484R probably damaging Het
Igdcc3 G A 9: 65,180,073 V298M probably damaging Het
Impg2 T A 16: 56,225,717 probably benign Het
Iqca T A 1: 90,045,642 M803L probably benign Het
Itga4 T C 2: 79,315,970 probably benign Het
Kidins220 T C 12: 25,040,460 F1141S possibly damaging Het
Kif7 A G 7: 79,702,278 I912T probably damaging Het
Klhl38 G A 15: 58,322,458 R292W probably damaging Het
Lama3 A G 18: 12,441,131 D590G probably benign Het
Map4k4 T C 1: 40,014,229 probably benign Het
Mbd4 A T 6: 115,850,797 D39E probably damaging Het
Mrm2 A G 5: 140,331,255 V8A probably benign Het
Myod1 A T 7: 46,377,115 E148V probably damaging Het
Olfr74 A C 2: 87,974,551 I38S probably benign Het
Pdcd10 A T 3: 75,541,168 F30I possibly damaging Het
Ptcd3 A T 6: 71,888,577 D451E probably benign Het
Rab44 C A 17: 29,147,377 S680R unknown Het
Rad21l A T 2: 151,655,164 D340E probably benign Het
Ranbp2 T C 10: 58,478,881 F1808L possibly damaging Het
Rnf122 T C 8: 31,128,602 V126A probably damaging Het
Slc25a47 G T 12: 108,854,216 V49L probably benign Het
Slc36a2 T C 11: 55,184,807 probably null Het
Sorl1 G A 9: 42,043,956 R668W probably damaging Het
Tbx19 T A 1: 165,139,156 N383I possibly damaging Het
Tenm4 A G 7: 96,874,303 H1676R probably benign Het
Tgm5 G T 2: 121,052,808 R351S probably damaging Het
Tmem106b A G 6: 13,071,843 S34G probably benign Het
Trmo C T 4: 46,386,169 G119R probably damaging Het
Ubr4 G A 4: 139,442,829 probably benign Het
Wfdc11 A G 2: 164,665,445 probably null Het
Xrn2 T A 2: 147,038,179 I474K probably benign Het
Zfp827 A G 8: 79,070,434 K383R 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
IGL01861:Ptcd1 APN 5 145158777 missense possibly damaging 0.81
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 On2013-12-03