Incidental Mutation 'R8244:Pdcd4'
ID 640893
Institutional Source Beutler Lab
Gene Symbol Pdcd4
Ensembl Gene ENSMUSG00000024975
Gene Name programmed cell death 4
Synonyms MA-3, TIS, D19Ucla1
MMRRC Submission 067672-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R8244 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 53880662-53918291 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53895965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 8 (T8A)
Ref Sequence ENSEMBL: ENSMUSP00000025931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025931] [ENSMUST00000074371] [ENSMUST00000165617]
AlphaFold Q61823
Predicted Effect probably benign
Transcript: ENSMUST00000025931
AA Change: T8A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025931
Gene: ENSMUSG00000024975
AA Change: T8A

DomainStartEndE-ValueType
low complexity region 66 82 N/A INTRINSIC
low complexity region 96 122 N/A INTRINSIC
MA3 164 275 3.68e-41 SMART
MA3 327 440 5.01e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000074371
AA Change: T8A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073975
Gene: ENSMUSG00000024975
AA Change: T8A

DomainStartEndE-ValueType
low complexity region 66 82 N/A INTRINSIC
low complexity region 96 122 N/A INTRINSIC
MA3 164 275 3.68e-41 SMART
MA3 327 440 5.01e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165617
AA Change: T8A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133135
Gene: ENSMUSG00000024975
AA Change: T8A

DomainStartEndE-ValueType
low complexity region 66 82 N/A INTRINSIC
low complexity region 96 122 N/A INTRINSIC
MA3 164 275 3.68e-41 SMART
MA3 327 440 5.01e-43 SMART
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (44/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a tumor suppressor and encodes a protein that binds to the eukaryotic translation initiation factor 4A1 and inhibits its function by preventing RNA binding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a null allele have a higher prevalence of B cell derived lymphomas, multi-organ cysts and decreased susceptibility to experimentally induced autoimmune encephalomyelitis and type 1 diabetes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T C 7: 27,271,004 (GRCm39) I133T probably damaging Het
Ahnak C T 19: 8,993,037 (GRCm39) P4774S probably benign Het
Alg5 A G 3: 54,646,221 (GRCm39) I29V probably benign Het
Ankar A G 1: 72,690,183 (GRCm39) I1216T probably benign Het
Ap5z1 A T 5: 142,459,735 (GRCm39) T462S possibly damaging Het
Apc2 A T 10: 80,151,166 (GRCm39) R2073S probably damaging Het
Apob A T 12: 8,060,548 (GRCm39) E3010V probably damaging Het
Arid3c T G 4: 41,729,997 (GRCm39) E66A possibly damaging Het
Atf7 A G 15: 102,437,301 (GRCm39) S54P unknown Het
Cbx3 C T 6: 51,452,350 (GRCm39) T55I probably benign Het
Clptm1 A T 7: 19,372,916 (GRCm39) F205I possibly damaging Het
Cramp1 T A 17: 25,190,384 (GRCm39) I1117F probably damaging Het
Dgkq A G 5: 108,796,578 (GRCm39) *935Q probably null Het
Dock2 A T 11: 34,586,280 (GRCm39) F511I probably damaging Het
Efr3a G A 15: 65,687,217 (GRCm39) R15H probably damaging Het
Ehmt2 A G 17: 35,124,238 (GRCm39) D385G probably damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Gfpt1 T A 6: 87,040,613 (GRCm39) probably benign Het
Gm21680 T C 5: 26,173,983 (GRCm39) E207G probably damaging Het
Igsf23 A T 7: 19,675,798 (GRCm39) C141S possibly damaging Het
Ktn1 A T 14: 47,912,280 (GRCm39) E349V probably null Het
Lrp1b T C 2: 41,396,794 (GRCm39) D424G Het
Lrrc9 A G 12: 72,546,384 (GRCm39) I1190V probably benign Het
Lztfl1 T A 9: 123,541,514 (GRCm39) I102F probably damaging Het
Mapk11 G T 15: 89,030,007 (GRCm39) T203K possibly damaging Het
Mgam T A 6: 40,727,520 (GRCm39) I1315N probably damaging Het
Nf1 T C 11: 79,331,750 (GRCm39) M695T probably benign Het
Pramel27 T C 4: 143,579,854 (GRCm39) Y480H probably damaging Het
Ptx4 A G 17: 25,341,839 (GRCm39) K105E possibly damaging Het
Pxn C T 5: 115,690,302 (GRCm39) P381L probably damaging Het
Rtn4rl1 T C 11: 75,156,276 (GRCm39) L236P probably damaging Het
Sall3 G A 18: 81,016,969 (GRCm39) P320S probably benign Het
Sh2b2 G T 5: 136,256,291 (GRCm39) S247* probably null Het
Sim2 T A 16: 93,910,222 (GRCm39) V208E probably damaging Het
Slc44a4 T C 17: 35,140,548 (GRCm39) L247P probably damaging Het
Sox1 GGGCGGCGGCGGCGGCGG GGGCGGCGGCGGCGG 8: 12,446,468 (GRCm39) probably benign Het
Tacc2 A G 7: 130,330,406 (GRCm39) D1937G probably damaging Het
Tmem131 T C 1: 36,847,974 (GRCm39) N1158S probably benign Het
Tns1 G T 1: 73,976,410 (GRCm39) A1146E probably damaging Het
Tom1l1 T C 11: 90,548,647 (GRCm39) E308G probably benign Het
Ttn T A 2: 76,659,051 (GRCm39) K12262* probably null Het
Vps13b G T 15: 35,917,349 (GRCm39) G3731V probably damaging Het
Wdr20 G A 12: 110,760,076 (GRCm39) E321K probably benign Het
Zfp516 G T 18: 82,974,458 (GRCm39) G219C probably damaging Het
Zfp979 A T 4: 147,697,933 (GRCm39) C259S possibly damaging Het
Zscan20 T C 4: 128,479,759 (GRCm39) T911A probably benign Het
Other mutations in Pdcd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01563:Pdcd4 APN 19 53,917,552 (GRCm39) missense probably benign
IGL02608:Pdcd4 APN 19 53,915,638 (GRCm39) splice site probably null
seventh UTSW 19 53,910,564 (GRCm39) critical splice donor site probably null
Uccidere UTSW 19 53,899,379 (GRCm39) missense probably damaging 1.00
R0893:Pdcd4 UTSW 19 53,917,525 (GRCm39) missense probably damaging 1.00
R1437:Pdcd4 UTSW 19 53,897,674 (GRCm39) missense probably damaging 0.99
R1836:Pdcd4 UTSW 19 53,914,650 (GRCm39) missense probably damaging 1.00
R4298:Pdcd4 UTSW 19 53,908,092 (GRCm39) missense probably damaging 1.00
R6365:Pdcd4 UTSW 19 53,910,564 (GRCm39) critical splice donor site probably null
R6436:Pdcd4 UTSW 19 53,915,362 (GRCm39) splice site probably null
R7523:Pdcd4 UTSW 19 53,899,379 (GRCm39) missense probably damaging 1.00
R8739:Pdcd4 UTSW 19 53,899,405 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGCTCTTGGAGAAGTTTGGAGC -3'
(R):5'- AGATCTTTTACGAGTTTCTGCTGCC -3'

Sequencing Primer
(F):5'- GCATAGCAAATTCCTAAAAAGGGAC -3'
(R):5'- GCCTTTTTGCAGAGCTAGGATACC -3'
Posted On 2020-07-28