Incidental Mutation 'R6575:Pdcd11'
ID 523424
Institutional Source Beutler Lab
Gene Symbol Pdcd11
Ensembl Gene ENSMUSG00000025047
Gene Name programmed cell death 11
Synonyms ALG-4, 1110021I22Rik
MMRRC Submission 044699-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R6575 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 47079183-47119585 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47098117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 801 (D801G)
Ref Sequence ENSEMBL: ENSMUSP00000072008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072141] [ENSMUST00000140512]
AlphaFold Q6NS46
Predicted Effect probably damaging
Transcript: ENSMUST00000072141
AA Change: D801G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072008
Gene: ENSMUSG00000025047
AA Change: D801G

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,330,683 (GRCm39) Y1177C probably damaging Het
Acnat1 A G 4: 49,450,785 (GRCm39) Y109H possibly damaging Het
Adgrf3 T A 5: 30,401,522 (GRCm39) K835N possibly damaging Het
Afg1l T C 10: 42,194,712 (GRCm39) D360G probably damaging Het
Ap3s1 C T 18: 46,887,448 (GRCm39) T27M probably benign Het
Atp8b4 A G 2: 126,256,284 (GRCm39) L225P probably damaging Het
Bicra G A 7: 15,713,056 (GRCm39) T997I probably benign Het
Bod1l T C 5: 41,995,411 (GRCm39) R112G probably damaging Het
Cabin1 T C 10: 75,561,535 (GRCm39) T989A possibly damaging Het
Cog1 C A 11: 113,546,887 (GRCm39) Q494K probably benign Het
Cyb5rl T C 4: 106,942,550 (GRCm39) Y160H probably benign Het
Dnajb8 A G 6: 88,200,057 (GRCm39) N198D probably damaging Het
Eif1ad11 T C 12: 87,994,117 (GRCm39) I115T probably damaging Het
Eif3l C A 15: 78,970,778 (GRCm39) Q351K possibly damaging Het
Esr1 T C 10: 4,916,301 (GRCm39) probably benign Het
Fam3c G T 6: 22,329,607 (GRCm39) A40D probably damaging Het
Fcrla A G 1: 170,749,797 (GRCm39) S87P probably damaging Het
Glra1 A G 11: 55,411,822 (GRCm39) Y246H probably damaging Het
Gm45871 T A 18: 90,609,844 (GRCm39) C361S probably damaging Het
Greb1l A G 18: 10,547,347 (GRCm39) N1522D possibly damaging Het
Hcn4 T C 9: 58,731,435 (GRCm39) M214T unknown Het
Heatr5b A T 17: 79,070,418 (GRCm39) V1665E probably damaging Het
Hemgn C A 4: 46,395,990 (GRCm39) M415I possibly damaging Het
Hibadh G A 6: 52,524,013 (GRCm39) T295I probably damaging Het
Iars1 T C 13: 49,878,745 (GRCm39) L947P probably damaging Het
Icam2 G A 11: 106,269,585 (GRCm39) T178I probably damaging Het
Lbr A G 1: 181,663,763 (GRCm39) S86P probably damaging Het
Lipe G A 7: 25,082,749 (GRCm39) T801I probably benign Het
Lrp6 T C 6: 134,518,934 (GRCm39) T44A possibly damaging Het
Malrd1 A G 2: 15,847,439 (GRCm39) H1193R probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Myh10 A G 11: 68,699,676 (GRCm39) I1671V probably benign Het
Or2c1 A G 16: 3,656,894 (GRCm39) D19G probably benign Het
Osbpl9 T C 4: 108,930,129 (GRCm39) D334G possibly damaging Het
Pfdn4 C A 2: 170,358,556 (GRCm39) D16E probably benign Het
Pmp22 C T 11: 63,049,099 (GRCm39) A114V probably damaging Het
Rrp9 C T 9: 106,360,778 (GRCm39) T253I probably damaging Het
Speer1m A T 5: 11,970,612 (GRCm39) K62* probably null Het
Tnrc6a A G 7: 122,769,133 (GRCm39) T308A probably damaging Het
Trgv4 T A 13: 19,369,250 (GRCm39) C34S probably benign Het
Trhr A G 15: 44,092,602 (GRCm39) M280V possibly damaging Het
Trp53bp1 G A 2: 121,059,084 (GRCm39) H926Y probably damaging Het
Trpv5 A T 6: 41,652,903 (GRCm39) I90K probably benign Het
Ttn T C 2: 76,719,259 (GRCm39) probably benign Het
Vav1 A C 17: 57,612,280 (GRCm39) R513S probably damaging Het
Vmn2r100 A T 17: 19,741,671 (GRCm39) T128S probably benign Het
Zfp687 T C 3: 94,915,700 (GRCm39) Y1024C probably damaging Het
Zfp938 C A 10: 82,061,160 (GRCm39) G487* probably null Het
Znrf2 A G 6: 54,855,430 (GRCm39) Y73C 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
R5103:Pdcd11 UTSW 19 47,112,893 (GRCm39) missense probably benign 0.00
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
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'- TGCCTGTCTTAACAATGACTCC -3'
(R):5'- TAGCACCCTTGATGGTCCAG -3'

Sequencing Primer
(F):5'- GTCAGACAGTCGTTGCTA -3'
(R):5'- TGGTACAAAGACTTCATCCCTC -3'
Posted On 2018-06-22