Incidental Mutation 'R7009:Pdcd11'
ID 544946
Institutional Source Beutler Lab
Gene Symbol Pdcd11
Ensembl Gene ENSMUSG00000025047
Gene Name programmed cell death 11
Synonyms ALG-4, 1110021I22Rik
MMRRC Submission 045111-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R7009 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 47079183-47119585 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47101581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 922 (L922P)
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: L922P

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000072008
Gene: ENSMUSG00000025047
AA Change: L922P

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik G T 13: 59,838,624 (GRCm39) D69E possibly damaging Het
Abat A C 16: 8,420,231 (GRCm39) M177L probably benign Het
Acadvl A G 11: 69,905,617 (GRCm39) probably null Het
Adam5 T C 8: 25,296,454 (GRCm39) N331S probably benign Het
Ager A G 17: 34,819,710 (GRCm39) E372G probably damaging Het
Angpt1 T A 15: 42,386,991 (GRCm39) Q121L possibly damaging Het
Apoa4 A T 9: 46,154,178 (GRCm39) I260F possibly damaging Het
Arhgap32 A T 9: 32,157,272 (GRCm39) I90F probably damaging Het
Arhgap5 A T 12: 52,566,422 (GRCm39) Q1131L probably benign Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Cacna2d3 A T 14: 28,691,322 (GRCm39) M1K probably null Het
Ccdc18 G A 5: 108,321,728 (GRCm39) probably null Het
Ccdc42 T C 11: 68,485,442 (GRCm39) F267S probably damaging Het
Cdh23 T A 10: 60,173,085 (GRCm39) Y1700F probably damaging Het
Cenpe A T 3: 134,940,962 (GRCm39) S704C probably damaging Het
Cenpe G A 3: 134,940,963 (GRCm39) S704N probably benign Het
Cfap299 A T 5: 98,932,379 (GRCm39) D193V probably damaging Het
Cfap54 A T 10: 92,710,881 (GRCm39) S2727T unknown Het
Clu T A 14: 66,209,281 (GRCm39) V113D probably damaging Het
Cnbd2 A G 2: 156,161,954 (GRCm39) I98V probably benign Het
Copa G T 1: 171,918,567 (GRCm39) R97L probably damaging Het
Epb41l1 C A 2: 156,376,603 (GRCm39) probably null Het
Etnk1 T A 6: 143,148,880 (GRCm39) probably null Het
Fnip1 A T 11: 54,393,761 (GRCm39) K732N probably damaging Het
G6pd2 A G 5: 61,966,234 (GRCm39) E3G probably benign Het
Gal3st2 A G 1: 93,801,481 (GRCm39) T95A probably benign Het
Gapvd1 A G 2: 34,590,829 (GRCm39) S948P probably damaging Het
Ggps1 A T 13: 14,228,750 (GRCm39) Y8* probably null Het
Gria2 T C 3: 80,614,279 (GRCm39) E587G probably damaging Het
Hpse T C 5: 100,840,145 (GRCm39) E324G probably benign Het
Il16 G A 7: 83,295,596 (GRCm39) T493I probably benign Het
Ints1 T C 5: 139,754,217 (GRCm39) T652A possibly damaging Het
Ism1 A G 2: 139,599,199 (GRCm39) I391V probably damaging Het
Katnb1 A G 8: 95,825,012 (GRCm39) D598G probably damaging Het
Kif5c A G 2: 49,647,441 (GRCm39) S880G probably benign Het
Klra8 T C 6: 130,102,147 (GRCm39) N96S probably benign Het
Krt79 T A 15: 101,839,876 (GRCm39) D373V probably damaging Het
Lamtor4 G A 5: 138,257,374 (GRCm39) R92Q probably benign Het
Lce1d C A 3: 92,593,353 (GRCm39) C20F unknown Het
Limk1 T C 5: 134,701,553 (GRCm39) T117A probably benign Het
Medag A T 5: 149,350,708 (GRCm39) K61M probably benign Het
Mkrn3 T C 7: 62,069,366 (GRCm39) M142V probably benign Het
Mob3c G A 4: 115,688,779 (GRCm39) R104H probably benign Het
Morc1 G T 16: 48,447,433 (GRCm39) R903L possibly damaging Het
Myh6 T C 14: 55,189,749 (GRCm39) E1099G probably damaging Het
Nphp3 T G 9: 103,893,315 (GRCm39) C434G probably null Het
Npr3 C T 15: 11,905,334 (GRCm39) C131Y probably damaging Het
Oacyl C A 18: 65,855,609 (GRCm39) Y112* probably null Het
Oprl1 A G 2: 181,360,174 (GRCm39) T77A probably damaging Het
Osgep A G 14: 51,162,165 (GRCm39) V24A probably damaging Het
Otx2 T A 14: 48,896,254 (GRCm39) K260M probably damaging Het
Pgap4 A T 4: 49,586,325 (GRCm39) M281K probably benign Het
Phldb1 A G 9: 44,605,705 (GRCm39) V375A probably damaging Het
Pip5k1b C T 19: 24,337,299 (GRCm39) probably null Het
Psmd3 G A 11: 98,573,592 (GRCm39) D13N probably benign Het
Ptprc G A 1: 137,992,291 (GRCm39) H1140Y probably damaging Het
Ranbp3l A T 15: 9,063,064 (GRCm39) H291L probably damaging Het
Rasa4 T A 5: 136,130,217 (GRCm39) D324E probably damaging Het
Rilpl1 T A 5: 124,641,755 (GRCm39) silent Het
Rin2 A C 2: 145,725,395 (GRCm39) D794A probably damaging Het
Ripk1 A G 13: 34,214,045 (GRCm39) I522M probably damaging Het
Rnf31 T C 14: 55,830,008 (GRCm39) Y143H probably benign Het
Rp1 T G 1: 4,112,291 (GRCm39) I1187L unknown Het
Rps6ka5 G A 12: 100,585,796 (GRCm39) H166Y probably damaging Het
Rrm1 T C 7: 102,109,541 (GRCm39) V455A probably damaging Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Scn5a T G 9: 119,314,996 (GRCm39) E1904A probably damaging Het
Sec16a G T 2: 26,326,014 (GRCm39) S240* probably null Het
Slc22a8 C T 19: 8,582,781 (GRCm39) T154I probably benign Het
Slc25a16 T A 10: 62,773,233 (GRCm39) V156E possibly damaging Het
Slc28a3 A T 13: 58,758,618 (GRCm39) S2T probably benign Het
Srd5a3 G A 5: 76,297,713 (GRCm39) V48I probably benign Het
Srebf1 A C 11: 60,091,352 (GRCm39) H1025Q probably damaging Het
Stard9 A G 2: 120,527,672 (GRCm39) K1310E probably benign Het
Swt1 A G 1: 151,246,381 (GRCm39) V848A possibly damaging Het
Tanc2 A T 11: 105,731,525 (GRCm39) T434S possibly damaging Het
Tcf20 G A 15: 82,738,883 (GRCm39) T856I probably benign Het
Tcf7l2 T C 19: 55,883,165 (GRCm39) probably null Het
Trim45 A G 3: 100,839,195 (GRCm39) probably benign Het
Tsen2 T A 6: 115,524,933 (GRCm39) M44K possibly damaging Het
Ttc21a T A 9: 119,787,139 (GRCm39) C715* probably null Het
Vmn2r102 G A 17: 19,914,456 (GRCm39) V674I probably damaging Het
Zfp87 A G 13: 67,665,173 (GRCm39) S430P 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
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
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'- GTCTGTCCTGACACCTCTGTAAG -3'
(R):5'- TTGAGGGTAAGGCAGACACC -3'

Sequencing Primer
(F):5'- ATTTCTGAGTTCCAGGACAGCCAG -3'
(R):5'- GACACCCTGCCCCACAC -3'
Posted On 2019-05-13