Incidental Mutation 'R5103:Pdcd11'
ID 392527
Institutional Source Beutler Lab
Gene Symbol Pdcd11
Ensembl Gene ENSMUSG00000025047
Gene Name programmed cell death 11
Synonyms ALG-4, 1110021I22Rik
MMRRC Submission 042691-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R5103 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 47079183-47119585 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47112893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1301 (H1301R)
Ref Sequence ENSEMBL: ENSMUSP00000072008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072141] [ENSMUST00000140512]
AlphaFold Q6NS46
Predicted Effect probably benign
Transcript: ENSMUST00000072141
AA Change: H1301R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000072008
Gene: ENSMUSG00000025047
AA Change: H1301R

DomainStartEndE-ValueType
low complexity region 53 76 N/A INTRINSIC
S1 81 171 1.05e-7 SMART
S1 185 258 2.32e-9 SMART
S1 279 346 1.44e-5 SMART
S1 363 436 8.55e-8 SMART
S1 451 522 3.89e-20 SMART
S1 540 611 1.14e-17 SMART
S1 634 707 2.76e-2 SMART
S1 727 798 2.02e-18 SMART
low complexity region 813 823 N/A INTRINSIC
S1 844 911 6.13e0 SMART
Blast:S1 923 993 8e-39 BLAST
low complexity region 1018 1032 N/A INTRINSIC
S1 1045 1120 1.3e-7 SMART
S1 1158 1233 6.09e-4 SMART
S1 1239 1309 4.14e-6 SMART
S1 1333 1407 1.57e-6 SMART
low complexity region 1433 1473 N/A INTRINSIC
coiled coil region 1557 1588 N/A INTRINSIC
HAT 1591 1622 6.53e2 SMART
HAT 1624 1661 4.12e1 SMART
HAT 1663 1694 3.49e2 SMART
HAT 1696 1728 3.18e-1 SMART
HAT 1730 1764 2.25e2 SMART
HAT 1766 1798 8.52e-2 SMART
HAT 1800 1835 1.33e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140512
SMART Domains Protein: ENSMUSP00000121661
Gene: ENSMUSG00000033033

DomainStartEndE-ValueType
Pfam:Ca_hom_mod 6 258 2.9e-93 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 99% (82/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PDCD11 is a NF-kappa-B (NFKB1; 164011)-binding protein that colocalizes with U3 RNA (MIM 180710) in the nucleolus and is required for rRNA maturation and generation of 18S rRNA (Sweet et al., 2003 [PubMed 14624448]; Sweet et al., 2008 [PubMed 17654514]).[supplied by OMIM, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,051,345 (GRCm39) R518H probably damaging Het
Agfg1 T C 1: 82,871,288 (GRCm39) S486P probably damaging Het
Arhgap18 A G 10: 26,745,978 (GRCm39) D283G probably damaging Het
Asb1 A G 1: 91,480,066 (GRCm39) N162S possibly damaging Het
Capn1 A G 19: 6,059,140 (GRCm39) Y274H probably damaging Het
Cdk5 A T 5: 24,627,833 (GRCm39) V30E probably damaging Het
Cep290 T G 10: 100,374,882 (GRCm39) L1376W probably damaging Het
Crybg1 T A 10: 43,873,944 (GRCm39) T1055S probably damaging Het
Cyp2c70 A G 19: 40,149,076 (GRCm39) Y357H probably damaging Het
Dlx6 AGG AG 6: 6,865,180 (GRCm39) probably null Het
Eml6 T A 11: 29,800,905 (GRCm39) E367V possibly damaging Het
Emp1 A G 6: 135,358,073 (GRCm39) T140A probably benign Het
Ergic3 T C 2: 155,850,545 (GRCm39) V74A probably benign Het
Fancm A T 12: 65,152,632 (GRCm39) L1029F probably damaging Het
Fank1 C A 7: 133,478,570 (GRCm39) C210* probably null Het
Fbxo31 T C 8: 122,279,101 (GRCm39) D462G probably damaging Het
Frem1 G A 4: 82,909,849 (GRCm39) A736V probably benign Het
Fshr T C 17: 89,404,796 (GRCm39) T56A possibly damaging Het
Gm5901 A T 7: 105,026,589 (GRCm39) probably null Het
Golga2 A G 2: 32,193,758 (GRCm39) E458G probably benign Het
Grik2 T A 10: 49,372,205 (GRCm39) I335F probably benign Het
Grin1 T A 2: 25,200,433 (GRCm39) M230L probably benign Het
Gtf2f1 C T 17: 57,311,519 (GRCm39) G297D probably damaging Het
H2-T5 T C 17: 36,472,577 (GRCm39) probably benign Het
Hacd1 T C 2: 14,045,724 (GRCm39) T136A probably damaging Het
Hdac5 T A 11: 102,087,109 (GRCm39) S24C probably damaging Het
Jtb T C 3: 90,139,394 (GRCm39) probably benign Het
Kif1a C T 1: 92,974,418 (GRCm39) G979E probably damaging Het
Mark2 T C 19: 7,261,868 (GRCm39) M345V probably damaging Het
Mfsd14b A G 13: 65,234,907 (GRCm39) V90A possibly damaging Het
Micu1 T C 10: 59,624,806 (GRCm39) Y283H possibly damaging Het
Mmp2 C T 8: 93,558,413 (GRCm39) R161* probably null Het
Mrpl2 G A 17: 46,960,964 (GRCm39) R286Q probably benign Het
Msh5 T C 17: 35,248,215 (GRCm39) I783V possibly damaging Het
Myo3b T A 2: 69,926,747 (GRCm39) F65I probably benign Het
Nat10 C A 2: 103,587,605 (GRCm39) V37L probably damaging Het
Nlrp1a T A 11: 70,990,352 (GRCm39) T967S probably damaging Het
Nolc1 A T 19: 46,070,103 (GRCm39) K291* probably null Het
Or1j18 A T 2: 36,624,680 (GRCm39) T116S probably benign Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or8d2b G T 9: 38,788,872 (GRCm39) M133I probably damaging Het
Or8u8 C A 2: 86,011,960 (GRCm39) R165L probably benign Het
Paip1 A G 13: 119,574,515 (GRCm39) E70G possibly damaging Het
Palmd T A 3: 116,721,070 (GRCm39) E127V probably damaging Het
Paqr6 T A 3: 88,275,024 (GRCm39) C262* probably null Het
Plce1 C A 19: 38,755,659 (GRCm39) D1896E probably damaging Het
Ppib A G 9: 65,968,747 (GRCm39) probably null Het
Pzp C T 6: 128,479,192 (GRCm39) V654M probably benign Het
Rab26 T C 17: 24,753,071 (GRCm39) probably benign Het
Recql4 A G 15: 76,590,956 (GRCm39) L468P probably damaging Het
Retreg1 C T 15: 25,968,540 (GRCm39) Q65* probably null Het
Rhpn1 C T 15: 75,586,064 (GRCm39) T659I possibly damaging Het
Rmc1 A G 18: 12,322,319 (GRCm39) I591V probably benign Het
Slc12a5 C A 2: 164,834,353 (GRCm39) H791Q probably damaging Het
Slc40a1 G A 1: 45,958,155 (GRCm39) Q93* probably null Het
Slc4a1 T C 11: 102,244,087 (GRCm39) M681V possibly damaging Het
Slc6a9 T A 4: 117,725,352 (GRCm39) F493L probably benign Het
Smc2 A G 4: 52,459,033 (GRCm39) E476G probably damaging Het
Smco4 G T 9: 15,456,090 (GRCm39) E59* probably null Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Stat4 T A 1: 52,111,054 (GRCm39) L167Q probably damaging Het
Sult1e1 C A 5: 87,724,091 (GRCm39) V289L probably benign Het
Tbc1d4 C A 14: 101,696,318 (GRCm39) E877* probably null Het
Tenm4 A T 7: 96,492,164 (GRCm39) I1033F probably damaging Het
Tppp2 T A 14: 52,156,909 (GRCm39) F95L probably benign Het
Trappc14 A G 5: 138,260,562 (GRCm39) V288A probably benign Het
Vmn2r41 G A 7: 8,141,341 (GRCm39) L708F probably benign Het
Washc5 G A 15: 59,222,018 (GRCm39) P126L probably damaging Het
Xkr4 T C 1: 3,740,911 (GRCm39) I221V probably benign Het
Xkr5 T C 8: 18,983,659 (GRCm39) R628G probably benign Het
Zfp207 T C 11: 80,282,736 (GRCm39) L233P probably damaging Het
Zfp827 T A 8: 79,797,032 (GRCm39) C373S probably damaging Het
Other mutations in Pdcd11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00646:Pdcd11 APN 19 47,105,767 (GRCm39) missense possibly damaging 0.83
IGL00656:Pdcd11 APN 19 47,086,609 (GRCm39) missense probably damaging 1.00
IGL00754:Pdcd11 APN 19 47,092,221 (GRCm39) missense possibly damaging 0.86
IGL00907:Pdcd11 APN 19 47,096,003 (GRCm39) missense probably benign 0.16
IGL00987:Pdcd11 APN 19 47,102,989 (GRCm39) intron probably benign
IGL01346:Pdcd11 APN 19 47,098,053 (GRCm39) missense probably benign 0.03
IGL01529:Pdcd11 APN 19 47,098,068 (GRCm39) missense probably benign 0.01
IGL01670:Pdcd11 APN 19 47,094,743 (GRCm39) missense probably damaging 0.98
IGL01917:Pdcd11 APN 19 47,089,604 (GRCm39) missense possibly damaging 0.92
IGL02096:Pdcd11 APN 19 47,094,860 (GRCm39) missense probably benign 0.10
IGL02300:Pdcd11 APN 19 47,115,381 (GRCm39) missense probably benign
IGL02515:Pdcd11 APN 19 47,113,516 (GRCm39) missense probably damaging 1.00
IGL02886:Pdcd11 APN 19 47,102,064 (GRCm39) missense possibly damaging 0.95
IGL03158:Pdcd11 APN 19 47,116,500 (GRCm39) missense possibly damaging 0.91
R0100:Pdcd11 UTSW 19 47,091,105 (GRCm39) missense probably benign 0.00
R0100:Pdcd11 UTSW 19 47,091,105 (GRCm39) missense probably benign 0.00
R0128:Pdcd11 UTSW 19 47,108,301 (GRCm39) missense probably benign 0.15
R0139:Pdcd11 UTSW 19 47,099,398 (GRCm39) critical splice acceptor site probably null
R0227:Pdcd11 UTSW 19 47,101,876 (GRCm39) intron probably benign
R0316:Pdcd11 UTSW 19 47,101,611 (GRCm39) missense probably damaging 0.97
R0480:Pdcd11 UTSW 19 47,113,476 (GRCm39) intron probably benign
R0577:Pdcd11 UTSW 19 47,087,271 (GRCm39) missense probably benign 0.01
R0725:Pdcd11 UTSW 19 47,115,730 (GRCm39) missense probably benign 0.17
R1344:Pdcd11 UTSW 19 47,118,516 (GRCm39) missense probably damaging 1.00
R1418:Pdcd11 UTSW 19 47,118,516 (GRCm39) missense probably damaging 1.00
R1856:Pdcd11 UTSW 19 47,086,626 (GRCm39) missense probably benign 0.00
R2146:Pdcd11 UTSW 19 47,093,191 (GRCm39) missense probably benign 0.00
R2147:Pdcd11 UTSW 19 47,093,191 (GRCm39) missense probably benign 0.00
R2447:Pdcd11 UTSW 19 47,102,995 (GRCm39) missense probably benign 0.01
R2916:Pdcd11 UTSW 19 47,101,876 (GRCm39) intron probably benign
R3177:Pdcd11 UTSW 19 47,101,703 (GRCm39) missense probably damaging 1.00
R3277:Pdcd11 UTSW 19 47,101,703 (GRCm39) missense probably damaging 1.00
R3712:Pdcd11 UTSW 19 47,115,684 (GRCm39) intron probably benign
R4495:Pdcd11 UTSW 19 47,099,445 (GRCm39) missense probably benign
R4697:Pdcd11 UTSW 19 47,114,786 (GRCm39) missense possibly damaging 0.83
R4941:Pdcd11 UTSW 19 47,108,325 (GRCm39) missense probably damaging 1.00
R4953:Pdcd11 UTSW 19 47,116,404 (GRCm39) missense probably benign 0.04
R5048:Pdcd11 UTSW 19 47,095,554 (GRCm39) missense probably benign
R5049:Pdcd11 UTSW 19 47,095,554 (GRCm39) missense probably benign
R5107:Pdcd11 UTSW 19 47,094,893 (GRCm39) missense probably damaging 1.00
R5139:Pdcd11 UTSW 19 47,095,554 (GRCm39) missense probably benign
R5261:Pdcd11 UTSW 19 47,101,976 (GRCm39) missense probably benign
R5302:Pdcd11 UTSW 19 47,096,083 (GRCm39) missense probably damaging 1.00
R5592:Pdcd11 UTSW 19 47,091,164 (GRCm39) missense probably benign
R5769:Pdcd11 UTSW 19 47,091,076 (GRCm39) missense possibly damaging 0.92
R5791:Pdcd11 UTSW 19 47,099,430 (GRCm39) missense possibly damaging 0.65
R5809:Pdcd11 UTSW 19 47,082,247 (GRCm39) missense probably benign 0.01
R5899:Pdcd11 UTSW 19 47,093,198 (GRCm39) missense possibly damaging 0.93
R5901:Pdcd11 UTSW 19 47,116,771 (GRCm39) missense possibly damaging 0.76
R5947:Pdcd11 UTSW 19 47,117,702 (GRCm39) missense probably benign 0.20
R6177:Pdcd11 UTSW 19 47,108,722 (GRCm39) missense probably damaging 1.00
R6489:Pdcd11 UTSW 19 47,098,191 (GRCm39) missense probably damaging 1.00
R6575:Pdcd11 UTSW 19 47,098,117 (GRCm39) missense probably damaging 0.98
R6578:Pdcd11 UTSW 19 47,099,520 (GRCm39) missense probably benign 0.11
R7009:Pdcd11 UTSW 19 47,101,581 (GRCm39) missense probably benign 0.17
R7015:Pdcd11 UTSW 19 47,086,665 (GRCm39) missense probably benign 0.00
R7060:Pdcd11 UTSW 19 47,099,418 (GRCm39) missense probably benign 0.30
R7260:Pdcd11 UTSW 19 47,117,673 (GRCm39) missense possibly damaging 0.62
R7392:Pdcd11 UTSW 19 47,116,436 (GRCm39) missense probably damaging 1.00
R7601:Pdcd11 UTSW 19 47,094,808 (GRCm39) missense not run
R7759:Pdcd11 UTSW 19 47,101,637 (GRCm39) missense possibly damaging 0.88
R7760:Pdcd11 UTSW 19 47,101,637 (GRCm39) missense possibly damaging 0.88
R7785:Pdcd11 UTSW 19 47,093,125 (GRCm39) missense probably benign 0.00
R7793:Pdcd11 UTSW 19 47,094,871 (GRCm39) missense probably benign 0.00
R7810:Pdcd11 UTSW 19 47,086,659 (GRCm39) missense possibly damaging 0.81
R7863:Pdcd11 UTSW 19 47,085,403 (GRCm39) missense probably damaging 1.00
R7950:Pdcd11 UTSW 19 47,101,876 (GRCm39) intron probably benign
R8062:Pdcd11 UTSW 19 47,119,152 (GRCm39) missense possibly damaging 0.50
R8184:Pdcd11 UTSW 19 47,101,791 (GRCm39) nonsense probably null
R8278:Pdcd11 UTSW 19 47,094,736 (GRCm39) missense probably damaging 1.00
R8404:Pdcd11 UTSW 19 47,093,231 (GRCm39) missense probably damaging 0.98
R8508:Pdcd11 UTSW 19 47,108,245 (GRCm39) missense probably damaging 1.00
R8525:Pdcd11 UTSW 19 47,081,337 (GRCm39) missense possibly damaging 0.52
R8787:Pdcd11 UTSW 19 47,097,019 (GRCm39) missense probably damaging 1.00
R9019:Pdcd11 UTSW 19 47,101,658 (GRCm39) missense probably damaging 1.00
R9534:Pdcd11 UTSW 19 47,108,718 (GRCm39) missense probably benign 0.01
R9660:Pdcd11 UTSW 19 47,082,191 (GRCm39) missense possibly damaging 0.67
R9712:Pdcd11 UTSW 19 47,117,741 (GRCm39) missense probably damaging 0.98
RF010:Pdcd11 UTSW 19 47,101,890 (GRCm39) frame shift probably null
RF027:Pdcd11 UTSW 19 47,101,888 (GRCm39) frame shift probably null
RF039:Pdcd11 UTSW 19 47,101,894 (GRCm39) frame shift probably null
RF061:Pdcd11 UTSW 19 47,101,884 (GRCm39) frame shift probably null
X0065:Pdcd11 UTSW 19 47,085,335 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTCTGTCGCTGCTCTGTC -3'
(R):5'- TTCTTCCAGAAACTCAAATGCC -3'

Sequencing Primer
(F):5'- TGTAGGGACAACTCCTGGTAAACTC -3'
(R):5'- TCCAGAAACTCAAATGCCTCCCG -3'
Posted On 2016-06-15