Incidental Mutation 'IGL01545:Pdcd10'
ID 90291
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdcd10
Ensembl Gene ENSMUSG00000027835
Gene Name programmed cell death 10
Synonyms 2410003B13Rik, Tfa15, TF-1 cell apoptosis related protein-15, CCM3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01545
Quality Score
Status
Chromosome 3
Chromosomal Location 75423797-75464159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75448475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 30 (F30I)
Ref Sequence ENSEMBL: ENSMUSP00000125752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029424] [ENSMUST00000161137] [ENSMUST00000162138]
AlphaFold Q8VE70
Predicted Effect probably benign
Transcript: ENSMUST00000029424
SMART Domains Protein: ENSMUSP00000029424
Gene: ENSMUSG00000027835

DomainStartEndE-ValueType
Pfam:DUF1241 1 99 1.7e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159217
Predicted Effect possibly damaging
Transcript: ENSMUST00000161137
AA Change: F30I

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125752
Gene: ENSMUSG00000027835
AA Change: F30I

DomainStartEndE-ValueType
Pfam:DUF1241 14 161 1.7e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162138
AA Change: F30I

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124421
Gene: ENSMUSG00000027835
AA Change: F30I

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik G A 11: 30,376,228 (GRCm39) S213L probably benign Het
Adgrv1 A G 13: 81,614,303 (GRCm39) I4030T possibly damaging Het
Ap4b1 G A 3: 103,720,143 (GRCm39) R55H probably benign Het
Arap3 G A 18: 38,123,889 (GRCm39) R377C probably damaging Het
Atp6v1h T A 1: 5,159,282 (GRCm39) M55K probably benign Het
B3galt4 A C 17: 34,170,187 (GRCm39) V17G probably benign Het
Cd79a A T 7: 24,600,691 (GRCm39) M172L probably benign Het
Cry1 A T 10: 85,020,226 (GRCm39) L37H possibly damaging Het
D5Ertd615e A T 5: 45,326,755 (GRCm39) noncoding transcript Het
Dnah17 A T 11: 118,010,394 (GRCm39) L308Q probably damaging Het
Dnah7a C T 1: 53,557,941 (GRCm39) A2158T probably benign Het
Dusp2 A G 2: 127,179,695 (GRCm39) T313A probably benign Het
Fam110c T C 12: 31,124,982 (GRCm39) S315P probably damaging Het
Fcer2a G A 8: 3,733,598 (GRCm39) R198* probably null Het
Fryl G A 5: 73,211,940 (GRCm39) T2359M probably damaging Het
Gm14221 G A 2: 160,410,303 (GRCm39) noncoding transcript Het
Gpc6 T G 14: 118,202,242 (GRCm39) L484R probably damaging Het
Igdcc3 G A 9: 65,087,355 (GRCm39) V298M probably damaging Het
Impg2 T A 16: 56,046,080 (GRCm39) probably benign Het
Iqca1 T A 1: 89,973,364 (GRCm39) M803L probably benign Het
Itga4 T C 2: 79,146,314 (GRCm39) probably benign Het
Katnip A G 7: 125,352,143 (GRCm39) probably null Het
Kidins220 T C 12: 25,090,459 (GRCm39) F1141S possibly damaging Het
Kif7 A G 7: 79,352,026 (GRCm39) I912T probably damaging Het
Klhl38 G A 15: 58,185,854 (GRCm39) R292W probably damaging Het
Lama3 A G 18: 12,574,188 (GRCm39) D590G probably benign Het
Map4k4 T C 1: 40,053,389 (GRCm39) probably benign Het
Mbd4 A T 6: 115,827,758 (GRCm39) D39E probably damaging Het
Mrm2 A G 5: 140,317,010 (GRCm39) V8A probably benign Het
Myod1 A T 7: 46,026,539 (GRCm39) E148V probably damaging Het
Or5d47 A C 2: 87,804,895 (GRCm39) I38S probably benign Het
Ptcd1 T A 5: 145,096,346 (GRCm39) H249L probably damaging Het
Ptcd3 A T 6: 71,865,561 (GRCm39) D451E probably benign Het
Rab44 C A 17: 29,366,351 (GRCm39) S680R unknown Het
Rad21l A T 2: 151,497,084 (GRCm39) D340E probably benign Het
Ranbp2 T C 10: 58,314,703 (GRCm39) F1808L possibly damaging Het
Rnf122 T C 8: 31,618,630 (GRCm39) V126A probably damaging Het
Slc25a47 G T 12: 108,820,142 (GRCm39) V49L probably benign Het
Slc36a2 T C 11: 55,075,633 (GRCm39) probably null Het
Sorl1 G A 9: 41,955,252 (GRCm39) R668W probably damaging Het
Tbx19 T A 1: 164,966,725 (GRCm39) N383I possibly damaging Het
Tenm4 A G 7: 96,523,510 (GRCm39) H1676R probably benign Het
Tgm5 G T 2: 120,883,289 (GRCm39) R351S probably damaging Het
Tmem106b A G 6: 13,071,842 (GRCm39) S34G probably benign Het
Trmo C T 4: 46,386,169 (GRCm39) G119R probably damaging Het
Ubr4 G A 4: 139,170,140 (GRCm39) probably benign Het
Wfdc11 A G 2: 164,507,365 (GRCm39) probably null Het
Xrn2 T A 2: 146,880,099 (GRCm39) I474K probably benign Het
Zfp827 A G 8: 79,797,063 (GRCm39) K383R probably damaging Het
Other mutations in Pdcd10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Pdcd10 APN 3 75,448,540 (GRCm39) missense probably damaging 0.98
IGL02179:Pdcd10 APN 3 75,434,922 (GRCm39) missense probably damaging 1.00
IGL02675:Pdcd10 APN 3 75,434,901 (GRCm39) missense probably damaging 1.00
R0299:Pdcd10 UTSW 3 75,434,958 (GRCm39) missense probably damaging 1.00
R0499:Pdcd10 UTSW 3 75,434,958 (GRCm39) missense probably damaging 1.00
R1674:Pdcd10 UTSW 3 75,448,486 (GRCm39) missense probably damaging 0.99
R4197:Pdcd10 UTSW 3 75,424,899 (GRCm39) missense possibly damaging 0.77
R4615:Pdcd10 UTSW 3 75,428,398 (GRCm39) missense probably damaging 1.00
R4908:Pdcd10 UTSW 3 75,448,553 (GRCm39) missense probably damaging 0.98
R5469:Pdcd10 UTSW 3 75,428,364 (GRCm39) nonsense probably null
R6628:Pdcd10 UTSW 3 75,428,378 (GRCm39) missense probably damaging 1.00
R9358:Pdcd10 UTSW 3 75,448,533 (GRCm39) missense probably damaging 0.97
Posted On 2013-12-03