Incidental Mutation 'IGL01154:Pdcd10'
ID 50819
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdcd10
Ensembl Gene ENSMUSG00000027835
Gene Name programmed cell death 10
Synonyms Tfa15, TF-1 cell apoptosis related protein-15, 2410003B13Rik, CCM3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01154
Quality Score
Status
Chromosome 3
Chromosomal Location 75516490-75556856 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 75541233 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 8 (M8R)
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 probably damaging
Transcript: ENSMUST00000161137
AA Change: M8R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125752
Gene: ENSMUSG00000027835
AA Change: M8R

DomainStartEndE-ValueType
Pfam:DUF1241 14 161 1.7e-66 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162138
AA Change: M8R

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124421
Gene: ENSMUSG00000027835
AA Change: M8R

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
2210408I21Rik T G 13: 77,281,094 F767V probably benign Het
A2m C A 6: 121,673,542 S1203* probably null Het
Abcc3 T C 11: 94,359,232 probably benign Het
Adamts13 T C 2: 27,006,194 Y1200H probably benign Het
Aldh1l2 T C 10: 83,520,373 D51G probably damaging Het
Apc2 A G 10: 80,313,069 E1319G possibly damaging Het
Arap3 A T 18: 37,996,734 S125T probably benign Het
Atp2b1 T A 10: 98,996,888 V417E probably damaging Het
Bpifa1 T A 2: 154,144,000 D78E probably benign Het
Catsperb C A 12: 101,625,681 A1090E possibly damaging Het
Ceacam9 C A 7: 16,723,961 T138K probably damaging Het
Cenpf T A 1: 189,680,333 E244D probably benign Het
Cep135 A T 5: 76,606,796 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Col15a1 A C 4: 47,208,450 T6P possibly damaging Het
Cyp11b1 T A 15: 74,838,534 Q306L probably benign Het
Defa22 T A 8: 21,163,037 probably null Het
Dnah5 A T 15: 28,458,656 T4480S possibly damaging Het
Fastkd1 T C 2: 69,690,060 probably null Het
Flt1 A G 5: 147,576,156 Y1124H possibly damaging Het
Fsd1l A G 4: 53,701,074 M469V probably benign Het
Fxr2 T C 11: 69,641,433 probably benign Het
Gm10801 A T 2: 98,663,983 Y135F probably benign Het
Grm4 A T 17: 27,434,737 C699* probably null Het
Hcn4 A G 9: 58,859,079 T677A unknown Het
Igkv9-123 G T 6: 67,954,534 probably benign Het
Irf4 T A 13: 30,757,421 H253Q possibly damaging Het
Jakmip2 T C 18: 43,590,679 probably benign Het
Kmt2c A G 5: 25,284,399 V1134A probably damaging Het
Limch1 G T 5: 66,745,958 E17* probably null Het
Nap1l1 T A 10: 111,486,675 N72K probably damaging Het
Olfr1265 T C 2: 90,037,468 L183P probably damaging Het
Olfr574 T C 7: 102,948,839 S115P probably damaging Het
Otud6b A T 4: 14,811,732 Y304N probably damaging Het
Ppip5k1 T C 2: 121,343,179 T404A probably damaging Het
Ppp2r2d C T 7: 138,882,211 A197V probably benign Het
Psg25 C T 7: 18,524,699 D351N probably benign Het
Sbno1 A T 5: 124,410,249 I87N probably damaging Het
Stfa2l1 C T 16: 36,159,937 probably benign Het
Sugp2 T A 8: 70,242,699 D107E probably damaging Het
Syne1 G T 10: 5,360,848 F576L probably damaging Het
Syne3 A G 12: 104,958,069 F357S probably benign Het
Tenm2 A G 11: 36,041,544 L1741P probably damaging Het
Tgs1 A T 4: 3,585,473 K117* probably null Het
Tram1 C T 1: 13,579,449 probably null Het
Trank1 T A 9: 111,386,400 D1799E probably benign Het
Ttc14 A T 3: 33,803,099 Y198F probably benign Het
Ube3b A G 5: 114,406,252 N570S probably null Het
Ube4b A G 4: 149,365,470 F412S probably benign Het
Vac14 T C 8: 110,653,607 probably benign Het
Vmn2r65 T C 7: 84,943,521 T493A probably benign Het
Zfp408 T C 2: 91,648,006 probably benign Het
Zfp580 C T 7: 5,053,268 T209I possibly damaging Het
Other mutations in Pdcd10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01545:Pdcd10 APN 3 75541168 missense possibly damaging 0.57
IGL02179:Pdcd10 APN 3 75527615 missense probably damaging 1.00
IGL02675:Pdcd10 APN 3 75527594 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
R9358:Pdcd10 UTSW 3 75541226 missense probably damaging 0.97
Posted On 2013-06-21