Incidental Mutation 'R1437:Pdcd4'
ID 161344
Institutional Source Beutler Lab
Gene Symbol Pdcd4
Ensembl Gene ENSMUSG00000024975
Gene Name programmed cell death 4
Synonyms MA-3, TIS, D19Ucla1
MMRRC Submission 039492-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R1437 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 53880662-53918291 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 53897674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 59 (A59S)
Ref Sequence ENSEMBL: ENSMUSP00000133135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025931] [ENSMUST00000074371] [ENSMUST00000165617]
AlphaFold Q61823
Predicted Effect probably damaging
Transcript: ENSMUST00000025931
AA Change: A59S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025931
Gene: ENSMUSG00000024975
AA Change: A59S

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 damaging
Transcript: ENSMUST00000074371
AA Change: A59S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073975
Gene: ENSMUSG00000024975
AA Change: A59S

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 damaging
Transcript: ENSMUST00000165617
AA Change: A59S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133135
Gene: ENSMUSG00000024975
AA Change: A59S

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
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.3%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,871,436 (GRCm39) V330E possibly damaging Het
Abcb5 A G 12: 118,838,497 (GRCm39) S1022P probably damaging Het
Abcc8 A G 7: 45,829,237 (GRCm39) I46T probably damaging Het
Add3 A G 19: 53,222,109 (GRCm39) R275G probably damaging Het
Akap1 C A 11: 88,735,577 (GRCm39) G362* probably null Het
Arhgef4 A G 1: 34,763,026 (GRCm39) T761A unknown Het
Asap1 A T 15: 63,991,956 (GRCm39) L751Q probably damaging Het
Atg2a C A 19: 6,300,646 (GRCm39) P741H probably damaging Het
Atxn10 T C 15: 85,243,675 (GRCm39) I46T possibly damaging Het
BC049715 C A 6: 136,817,090 (GRCm39) A110E probably damaging Het
Bltp1 C A 3: 36,996,578 (GRCm39) H1097N possibly damaging Het
Btbd7 T A 12: 102,754,349 (GRCm39) T806S possibly damaging Het
Cdk4 C A 10: 126,900,558 (GRCm39) P108H probably damaging Het
Cep290 A G 10: 100,407,963 (GRCm39) T2391A probably benign Het
Col6a3 G T 1: 90,729,098 (GRCm39) A1281E probably damaging Het
Cpa5 A T 6: 30,624,654 (GRCm39) I165F probably damaging Het
Ctdp1 G T 18: 80,493,428 (GRCm39) Q356K probably benign Het
Ddx21 A G 10: 62,434,369 (GRCm39) M130T unknown Het
Epha5 T G 5: 84,381,555 (GRCm39) D432A probably damaging Het
Esr1 ACGCCGCCGCCGCCGCCGCCGCCGCCGCC ACGCCGCCGCCGCCGCCGCCGCCGCC 10: 4,662,571 (GRCm39) probably benign Het
Fads2 A T 19: 10,069,193 (GRCm39) L77Q probably benign Het
Fbn2 A T 18: 58,186,731 (GRCm39) H1723Q possibly damaging Het
Fbxo42 C T 4: 140,895,165 (GRCm39) H43Y probably benign Het
Fry A G 5: 150,233,890 (GRCm39) T121A possibly damaging Het
Gpr156 T G 16: 37,808,904 (GRCm39) S209A probably damaging Het
Hey2 T C 10: 30,709,845 (GRCm39) T303A probably benign Het
Hivep1 T A 13: 42,310,616 (GRCm39) M952K probably benign Het
Hydin C T 8: 111,308,617 (GRCm39) Q3968* probably null Het
Jup T C 11: 100,274,402 (GRCm39) E96G probably benign Het
Kcnn1 A G 8: 71,297,195 (GRCm39) I504T probably benign Het
Klk1b9 T C 7: 43,629,114 (GRCm39) V174A probably damaging Het
Lama3 G C 18: 12,682,284 (GRCm39) M1083I possibly damaging Het
Lcmt2 A G 2: 120,969,377 (GRCm39) S569P probably benign Het
Lrfn2 T C 17: 49,378,253 (GRCm39) S445P probably damaging Het
Lrp3 C A 7: 34,912,595 (GRCm39) G31W probably damaging Het
Lrrc8b T C 5: 105,629,568 (GRCm39) L638P probably damaging Het
Mief2 C T 11: 60,621,769 (GRCm39) T113M probably benign Het
Mrps2 T C 2: 28,358,899 (GRCm39) F76S probably damaging Het
Naca A G 10: 127,878,048 (GRCm39) probably benign Het
Ndst4 C A 3: 125,355,099 (GRCm39) R336S probably damaging Het
Nr1i3 CACTCAACACTAC CAC 1: 171,044,710 (GRCm39) probably null Het
Nr5a1 T A 2: 38,600,685 (GRCm39) T29S probably benign Het
Or5ak23 T C 2: 85,245,218 (GRCm39) I2V probably benign Het
Or5as1 C T 2: 86,980,115 (GRCm39) V297M possibly damaging Het
Pald1 A G 10: 61,177,064 (GRCm39) F662S possibly damaging Het
Pde4a T C 9: 21,103,888 (GRCm39) probably null Het
Pkd1 T A 17: 24,814,106 (GRCm39) S4159T probably damaging Het
Plaat1 C A 16: 29,046,922 (GRCm39) A147E possibly damaging Het
Plch1 C A 3: 63,604,954 (GRCm39) R1641L probably benign Het
Plec G T 15: 76,073,481 (GRCm39) P308Q probably damaging Het
Pnkp A G 7: 44,509,826 (GRCm39) S262G possibly damaging Het
Pou2f1 A G 1: 165,719,399 (GRCm39) V504A probably damaging Het
Prepl G A 17: 85,395,785 (GRCm39) R66W probably damaging Het
Rasgrf2 T C 13: 92,167,396 (GRCm39) K226E probably damaging Het
Ror1 T A 4: 100,269,306 (GRCm39) F381L probably benign Het
Sbsn C T 7: 30,452,478 (GRCm39) Q498* probably null Het
Scgb2b19 T C 7: 32,977,980 (GRCm39) I106V probably benign Het
Sf3a2 G A 10: 80,640,040 (GRCm39) probably benign Het
Sis T C 3: 72,841,475 (GRCm39) H780R probably damaging Het
Slc28a3 G T 13: 58,706,389 (GRCm39) C617* probably null Het
Slc44a1 T A 4: 53,561,006 (GRCm39) V574D probably damaging Het
Slc8a3 T A 12: 81,362,760 (GRCm39) T20S probably damaging Het
Stt3b T A 9: 115,083,995 (GRCm39) I394F probably damaging Het
Ubap1l T A 9: 65,279,337 (GRCm39) V212D possibly damaging Het
Ugt2b35 T C 5: 87,148,890 (GRCm39) V47A probably benign Het
Vmn2r114 A G 17: 23,510,185 (GRCm39) F765S probably damaging Het
Vps50 C T 6: 3,517,852 (GRCm39) Q97* probably null Het
Vsig10 A G 5: 117,489,635 (GRCm39) Q467R probably damaging Het
Wdsub1 T G 2: 59,708,477 (GRCm39) Y11S probably damaging Het
Zbtb11 T G 16: 55,811,983 (GRCm39) probably null 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
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
R8244:Pdcd4 UTSW 19 53,895,965 (GRCm39) missense probably benign
R8739:Pdcd4 UTSW 19 53,899,405 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGGTGATGGTTTGAGAGCCTTCCC -3'
(R):5'- GCACACACTAACCTTTCTTTGGCAG -3'

Sequencing Primer
(F):5'- GAACTTGTACTGTCCAGCATAGC -3'
(R):5'- CTTTGGCAGCCCCCTTC -3'
Posted On 2014-03-14