Incidental Mutation 'IGL02675:Pdcd10'
ID303086
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdcd10
Ensembl Gene ENSMUSG00000027835
Gene Nameprogrammed cell death 10
SynonymsTfa15, TF-1 cell apoptosis related protein-15, 2410003B13Rik, CCM3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02675
Quality Score
Status
Chromosome3
Chromosomal Location75516490-75556856 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 75527594 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 130 (T130I)
Ref Sequence ENSEMBL: ENSMUSP00000125752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029424] [ENSMUST00000161137] [ENSMUST00000162138]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029424
AA Change: T67I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029424
Gene: ENSMUSG00000027835
AA Change: T67I

DomainStartEndE-ValueType
Pfam:DUF1241 1 99 1.7e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161137
AA Change: T130I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125752
Gene: ENSMUSG00000027835
AA Change: T130I

DomainStartEndE-ValueType
Pfam:DUF1241 14 161 1.7e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162138
SMART Domains Protein: ENSMUSP00000124421
Gene: ENSMUSG00000027835

DomainStartEndE-ValueType
Pfam:DUF1241 10 66 5.4e-21 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is phosphoryated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential for vascular developent. Mutations in this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout is embryonic lethal due to impaired hematopoeisis, vasculogenesis, and abnormal heart morphology. Conditional knockout in myeloids increases degranulation of, and exocytosis by, neutrophils. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano8 A G 8: 71,483,540 I204T probably damaging Het
Anxa8 A G 14: 34,093,414 D150G probably damaging Het
Arel1 T C 12: 84,930,228 T438A probably damaging Het
Asphd1 T C 7: 126,946,834 probably benign Het
Bcl2l12 A T 7: 44,991,400 probably benign Het
Cand1 A G 10: 119,219,697 I87T probably damaging Het
Ccdc80 A C 16: 45,116,332 T707P probably damaging Het
Cdh9 T A 15: 16,849,076 probably null Het
Chrd T C 16: 20,739,949 probably benign Het
Cpn1 T C 19: 43,980,930 Q98R probably benign Het
D630045J12Rik A G 6: 38,195,485 S583P possibly damaging Het
Dnah7a A G 1: 53,504,024 I2329T possibly damaging Het
Egln3 A G 12: 54,203,210 S118P probably benign Het
Gfra1 G A 19: 58,453,355 T48I probably damaging Het
Hapln3 C T 7: 79,117,848 probably null Het
Heatr3 T C 8: 88,144,557 F180L possibly damaging Het
Herc2 T A 7: 56,164,101 S2661T probably damaging Het
Hook3 A T 8: 26,061,434 L126Q possibly damaging Het
Hoxd8 T G 2: 74,706,586 L214R probably damaging Het
Ifna1 T G 4: 88,850,433 L116R probably damaging Het
Il31ra T A 13: 112,524,352 T487S probably benign Het
Kifc2 C T 15: 76,662,979 R252W probably damaging Het
Meox2 A G 12: 37,178,334 D290G probably damaging Het
Micu2 A G 14: 57,945,377 probably benign Het
Myh9 T C 15: 77,788,930 T406A possibly damaging Het
Naip1 T A 13: 100,409,118 M1301L probably benign Het
Pbrm1 T C 14: 31,106,287 L1341P possibly damaging Het
Pcna-ps2 C A 19: 9,283,959 A194E probably benign Het
Pprc1 G A 19: 46,063,507 G491D probably damaging Het
Prss57 A G 10: 79,787,475 V46A probably benign Het
Ptcd3 A G 6: 71,883,442 probably null Het
Riok1 C T 13: 38,050,243 P262S probably damaging Het
Rnf13 A G 3: 57,779,396 N70S probably benign Het
Skint7 T A 4: 111,981,981 D157E probably benign Het
Sri T C 5: 8,067,534 F191S probably damaging Het
Stat5b T C 11: 100,787,374 R638G probably benign Het
Suds3 C T 5: 117,094,905 probably null Het
Tmem19 A G 10: 115,342,573 L281P probably damaging Het
Tmf1 A G 6: 97,164,042 probably benign Het
Trio A G 15: 27,768,039 probably benign Het
Usp28 T C 9: 49,039,091 I940T possibly damaging Het
Wisp3 A G 10: 39,151,240 V332A possibly damaging Het
Zfp280d T A 9: 72,312,222 I227K probably benign Het
Zfp335 A G 2: 164,910,689 V45A probably benign Het
Other mutations in Pdcd10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Pdcd10 APN 3 75541233 missense probably damaging 0.98
IGL01545:Pdcd10 APN 3 75541168 missense possibly damaging 0.57
IGL02179:Pdcd10 APN 3 75527615 missense probably damaging 1.00
R0299:Pdcd10 UTSW 3 75527651 missense probably damaging 1.00
R0499:Pdcd10 UTSW 3 75527651 missense probably damaging 1.00
R1674:Pdcd10 UTSW 3 75541179 missense probably damaging 0.99
R4197:Pdcd10 UTSW 3 75517592 missense possibly damaging 0.77
R4615:Pdcd10 UTSW 3 75521091 missense probably damaging 1.00
R4908:Pdcd10 UTSW 3 75541246 missense probably damaging 0.98
R5469:Pdcd10 UTSW 3 75521057 nonsense probably null
R6628:Pdcd10 UTSW 3 75521071 missense probably damaging 1.00
Posted On2015-04-16