Incidental Mutation 'R0480:Dnajc13'
ID 41945
Institutional Source Beutler Lab
Gene Symbol Dnajc13
Ensembl Gene ENSMUSG00000032560
Gene Name DnaJ heat shock protein family (Hsp40) member C13
Synonyms Rme8, D030002L11Rik, LOC382100
MMRRC Submission 038680-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R0480 (G1)
Quality Score 214
Status Validated
Chromosome 9
Chromosomal Location 104028481-104140129 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 104077708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 934 (N934K)
Ref Sequence ENSEMBL: ENSMUSP00000035170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035170] [ENSMUST00000186788]
AlphaFold D4AFX7
Predicted Effect probably damaging
Transcript: ENSMUST00000035170
AA Change: N934K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035170
Gene: ENSMUSG00000032560
AA Change: N934K

DomainStartEndE-ValueType
low complexity region 706 719 N/A INTRINSIC
low complexity region 832 843 N/A INTRINSIC
low complexity region 913 926 N/A INTRINSIC
Blast:ARM 927 963 6e-12 BLAST
Pfam:DUF4339 976 1020 1.5e-18 PFAM
Blast:ARM 1071 1110 5e-12 BLAST
DnaJ 1300 1358 5.69e-18 SMART
low complexity region 1417 1426 N/A INTRINSIC
low complexity region 1813 1829 N/A INTRINSIC
Blast:ARM 1843 1884 6e-8 BLAST
low complexity region 1968 1984 N/A INTRINSIC
low complexity region 2006 2016 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000185503
AA Change: N31K
Predicted Effect probably benign
Transcript: ENSMUST00000186788
AA Change: N939K

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000139804
Gene: ENSMUSG00000032560
AA Change: N939K

DomainStartEndE-ValueType
low complexity region 706 719 N/A INTRINSIC
low complexity region 837 848 N/A INTRINSIC
low complexity region 918 931 N/A INTRINSIC
Blast:ARM 932 968 6e-12 BLAST
Pfam:DUF4339 980 1025 8.1e-14 PFAM
Blast:ARM 1076 1115 5e-12 BLAST
DnaJ 1305 1363 5.69e-18 SMART
low complexity region 1422 1431 N/A INTRINSIC
low complexity region 1818 1834 N/A INTRINSIC
Blast:ARM 1848 1889 6e-8 BLAST
low complexity region 1973 1989 N/A INTRINSIC
low complexity region 2011 2021 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188592
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189103
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 99% (117/118)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinson's disease. [provided by RefSeq, Jun 2016]
Allele List at MGI
Other mutations in this stock
Total: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,771,012 (GRCm39) L165F probably damaging Het
Adamts18 A G 8: 114,465,450 (GRCm39) V714A possibly damaging Het
Adamtsl1 G T 4: 86,171,055 (GRCm39) A518S probably benign Het
Adcy2 C T 13: 68,880,231 (GRCm39) V363M probably damaging Het
Ago4 G T 4: 126,419,870 (GRCm39) Q36K probably benign Het
Akr1a1 A G 4: 116,497,044 (GRCm39) V172A possibly damaging Het
Alkbh2 T A 5: 114,263,596 (GRCm39) N137I probably damaging Het
Ank3 T A 10: 69,715,756 (GRCm39) S470T probably damaging Het
Ankrd12 T C 17: 66,356,823 (GRCm39) T65A possibly damaging Het
Aox1 A T 1: 58,082,810 (GRCm39) probably benign Het
Arhgap11a A T 2: 113,670,163 (GRCm39) I320N probably benign Het
Arhgap17 G A 7: 122,893,867 (GRCm39) H518Y probably damaging Het
Ascc3 T C 10: 50,611,348 (GRCm39) V1563A probably damaging Het
Atf2 G A 2: 73,649,500 (GRCm39) probably benign Het
Bmpr2 C T 1: 59,884,818 (GRCm39) T268I probably damaging Het
Bpifb9a A G 2: 154,106,608 (GRCm39) I380V probably benign Het
C2cd2 G A 16: 97,678,348 (GRCm39) T363I probably benign Het
Catsperg2 T G 7: 29,420,723 (GRCm39) N190H probably damaging Het
Ccdc138 T C 10: 58,397,789 (GRCm39) L543S probably damaging Het
Ccdc170 A T 10: 4,468,939 (GRCm39) K162N probably benign Het
Cdca5 G T 19: 6,140,328 (GRCm39) R163L probably damaging Het
Cdh24 A G 14: 54,870,054 (GRCm39) F239S probably benign Het
Cdkl3 T C 11: 51,895,882 (GRCm39) V43A probably damaging Het
Cep152 G T 2: 125,423,639 (GRCm39) Q921K possibly damaging Het
Cftr G A 6: 18,274,517 (GRCm39) probably benign Het
Chmp5 T C 4: 40,948,690 (GRCm39) probably benign Het
Cit T A 5: 116,071,452 (GRCm39) probably benign Het
Cngb3 T A 4: 19,309,517 (GRCm39) probably benign Het
Cnr2 A G 4: 135,644,912 (GRCm39) E330G probably benign Het
Cyp21a1 A T 17: 35,020,800 (GRCm39) L473Q probably damaging Het
Dchs1 T C 7: 105,420,696 (GRCm39) T575A probably benign Het
Dedd2 A G 7: 24,903,050 (GRCm39) V303A probably damaging Het
Dmd G T X: 83,469,344 (GRCm39) A2370S probably benign Het
Dnah10 T A 5: 124,885,915 (GRCm39) N3009K probably damaging Het
Dock1 C T 7: 134,339,447 (GRCm39) L106F probably damaging Het
Fat3 A G 9: 15,909,025 (GRCm39) Y2326H probably benign Het
Fhl5 A T 4: 25,207,101 (GRCm39) C222* probably null Het
Gnmt T C 17: 47,036,854 (GRCm39) T252A probably benign Het
Gpi-ps A G 8: 5,689,888 (GRCm39) noncoding transcript Het
Gsta5 C T 9: 78,210,099 (GRCm39) A135V probably benign Het
Gtf2f1 A G 17: 57,311,307 (GRCm39) probably null Het
Gtf3a T C 5: 146,890,039 (GRCm39) Y187H probably damaging Het
Hdac2 A G 10: 36,850,788 (GRCm39) Y14C probably damaging Het
Hnrnph1 T G 11: 50,276,589 (GRCm39) probably benign Het
Homer2 T C 7: 81,268,351 (GRCm39) D92G possibly damaging Het
Hspg2 T C 4: 137,277,335 (GRCm39) S2885P probably damaging Het
Insr A G 8: 3,211,770 (GRCm39) S1084P probably damaging Het
Ints11 T A 4: 155,972,081 (GRCm39) V362E probably damaging Het
Kank2 T C 9: 21,691,195 (GRCm39) N513S probably damaging Het
Kl T G 5: 150,876,753 (GRCm39) V191G probably damaging Het
Krt23 A G 11: 99,377,524 (GRCm39) probably null Het
Lama3 A C 18: 12,583,481 (GRCm39) T690P possibly damaging Het
Lamb1 G A 12: 31,332,720 (GRCm39) A281T possibly damaging Het
Lck T C 4: 129,449,433 (GRCm39) E299G probably damaging Het
Lonrf1 A G 8: 36,689,864 (GRCm39) V703A probably damaging Het
Ly6f T C 15: 75,143,526 (GRCm39) C78R probably damaging Het
Mapkap1 C T 2: 34,423,793 (GRCm39) probably benign Het
Mast1 T A 8: 85,639,718 (GRCm39) I1204F probably damaging Het
Mbd6 C T 10: 127,121,742 (GRCm39) probably benign Het
Mef2c A T 13: 83,741,020 (GRCm39) T60S probably damaging Het
Mgat4c C T 10: 102,224,980 (GRCm39) T398I probably damaging Het
Mmp12 C A 9: 7,350,016 (GRCm39) H102Q probably damaging Het
Mmp20 G A 9: 7,645,374 (GRCm39) G308E probably damaging Het
Mms19 A T 19: 41,943,285 (GRCm39) L395Q probably damaging Het
Mus81 A G 19: 5,537,959 (GRCm39) probably benign Het
Mypn C T 10: 63,028,982 (GRCm39) R27H probably benign Het
Nav3 T C 10: 109,689,161 (GRCm39) E372G probably damaging Het
Ncoa1 T A 12: 4,389,105 (GRCm39) I57F probably damaging Het
Ncstn T C 1: 171,910,159 (GRCm39) probably benign Het
Nefm C T 14: 68,361,608 (GRCm39) D219N probably damaging Het
Notch2 C T 3: 98,053,853 (GRCm39) T2172I possibly damaging Het
Obscn T A 11: 59,024,772 (GRCm39) K423* probably null Het
Or51l14 A G 7: 103,100,835 (GRCm39) N97S probably benign Het
Or5d37 A C 2: 87,923,972 (GRCm39) S103A probably benign Het
Or5k1 T C 16: 58,617,684 (GRCm39) N175S probably benign Het
Or9a2 A T 6: 41,749,198 (GRCm39) C12S probably benign Het
Ostm1 T A 10: 42,572,343 (GRCm39) M242K probably damaging Het
Oxnad1 T A 14: 31,821,437 (GRCm39) I154N probably damaging Het
Pcdhb10 T A 18: 37,546,152 (GRCm39) D409E probably damaging Het
Pdcd11 T C 19: 47,113,476 (GRCm39) probably benign Het
Peak1 C A 9: 56,165,916 (GRCm39) V671L probably benign Het
Pex1 G A 5: 3,656,444 (GRCm39) probably null Het
Plk4 T A 3: 40,760,075 (GRCm39) F324I probably benign Het
Poglut2 C T 1: 44,149,917 (GRCm39) W424* probably null Het
Ppfibp1 C A 6: 146,920,529 (GRCm39) probably null Het
Prcp T A 7: 92,568,290 (GRCm39) W276R probably damaging Het
Prr14l T C 5: 32,987,224 (GRCm39) E757G probably benign Het
Prss52 T A 14: 64,351,093 (GRCm39) Y293N probably damaging Het
Prune2 A G 19: 16,984,156 (GRCm39) probably benign Het
Ptprk G C 10: 28,461,943 (GRCm39) A84P probably damaging Het
Ptprk C T 10: 28,461,944 (GRCm39) A84V probably damaging Het
Rock1 A G 18: 10,079,120 (GRCm39) L1116P possibly damaging Het
Sdha A T 13: 74,475,452 (GRCm39) F526Y probably benign Het
Sema4b T C 7: 79,869,954 (GRCm39) F414S probably damaging Het
Serpina12 T C 12: 104,001,960 (GRCm39) D252G probably damaging Het
Siglecg C T 7: 43,060,550 (GRCm39) A310V probably benign Het
Slc30a8 A G 15: 52,188,966 (GRCm39) I194V probably benign Het
Spred3 A G 7: 28,862,400 (GRCm39) S148P probably damaging Het
Taf9b A G X: 105,262,014 (GRCm39) S58P probably damaging Het
Tgm4 A T 9: 122,891,484 (GRCm39) Y109F probably benign Het
Tmprss11c T G 5: 86,385,468 (GRCm39) probably benign Het
Tmtc3 A T 10: 100,307,266 (GRCm39) V246D probably damaging Het
Tnip1 C T 11: 54,828,820 (GRCm39) G116R probably damaging Het
Tpr A G 1: 150,303,992 (GRCm39) E1455G possibly damaging Het
Ttc3 T A 16: 94,232,863 (GRCm39) L986* probably null Het
Txndc15 A G 13: 55,872,436 (GRCm39) I275V possibly damaging Het
Ugt2b1 T A 5: 87,074,315 (GRCm39) I15L probably benign Het
Upf2 T C 2: 5,962,445 (GRCm39) V49A possibly damaging Het
Vmn1r117 G A 7: 20,617,371 (GRCm39) P226S probably benign Het
Vmn2r28 A T 7: 5,493,456 (GRCm39) H163Q probably benign Het
Vstm2a T A 11: 16,213,240 (GRCm39) S208R probably damaging Het
Zfp346 T A 13: 55,260,910 (GRCm39) C79* probably null Het
Zfp628 A T 7: 4,924,615 (GRCm39) T946S probably benign Het
Other mutations in Dnajc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Dnajc13 APN 9 104,039,979 (GRCm39) missense probably benign 0.15
IGL00754:Dnajc13 APN 9 104,051,697 (GRCm39) nonsense probably null
IGL00914:Dnajc13 APN 9 104,090,081 (GRCm39) missense possibly damaging 0.90
IGL01014:Dnajc13 APN 9 104,080,417 (GRCm39) missense probably damaging 1.00
IGL01077:Dnajc13 APN 9 104,108,220 (GRCm39) missense probably benign 0.11
IGL01137:Dnajc13 APN 9 104,037,689 (GRCm39) missense probably benign
IGL01305:Dnajc13 APN 9 104,107,836 (GRCm39) splice site probably null
IGL01707:Dnajc13 APN 9 104,106,178 (GRCm39) missense probably damaging 1.00
IGL01781:Dnajc13 APN 9 104,039,558 (GRCm39) missense possibly damaging 0.82
IGL01868:Dnajc13 APN 9 104,039,944 (GRCm39) missense possibly damaging 0.83
IGL01950:Dnajc13 APN 9 104,067,631 (GRCm39) missense possibly damaging 0.85
IGL02102:Dnajc13 APN 9 104,106,208 (GRCm39) missense possibly damaging 0.78
IGL02350:Dnajc13 APN 9 104,039,558 (GRCm39) missense possibly damaging 0.82
IGL02357:Dnajc13 APN 9 104,039,558 (GRCm39) missense possibly damaging 0.82
IGL02470:Dnajc13 APN 9 104,052,946 (GRCm39) missense probably benign 0.17
IGL02888:Dnajc13 APN 9 104,057,261 (GRCm39) splice site probably benign
IGL03079:Dnajc13 APN 9 104,090,068 (GRCm39) nonsense probably null
IGL03179:Dnajc13 APN 9 104,044,634 (GRCm39) missense probably benign 0.42
IGL03293:Dnajc13 APN 9 104,051,625 (GRCm39) missense possibly damaging 0.64
impressario UTSW 9 104,091,085 (GRCm39) missense probably benign 0.12
Kaiser UTSW 9 104,091,387 (GRCm39) missense probably damaging 1.00
BB008:Dnajc13 UTSW 9 104,095,763 (GRCm39) missense probably benign 0.02
BB018:Dnajc13 UTSW 9 104,095,763 (GRCm39) missense probably benign 0.02
PIT4142001:Dnajc13 UTSW 9 104,115,672 (GRCm39) missense probably damaging 0.96
R0323:Dnajc13 UTSW 9 104,034,091 (GRCm39) missense probably damaging 1.00
R0361:Dnajc13 UTSW 9 104,044,258 (GRCm39) missense probably benign 0.18
R0558:Dnajc13 UTSW 9 104,079,151 (GRCm39) critical splice acceptor site probably null
R0707:Dnajc13 UTSW 9 104,049,781 (GRCm39) missense probably benign 0.12
R0831:Dnajc13 UTSW 9 104,049,811 (GRCm39) missense probably damaging 1.00
R1234:Dnajc13 UTSW 9 104,091,356 (GRCm39) missense possibly damaging 0.64
R1433:Dnajc13 UTSW 9 104,057,320 (GRCm39) missense probably damaging 1.00
R1463:Dnajc13 UTSW 9 104,056,139 (GRCm39) missense probably damaging 1.00
R1464:Dnajc13 UTSW 9 104,091,366 (GRCm39) missense probably benign 0.10
R1464:Dnajc13 UTSW 9 104,091,366 (GRCm39) missense probably benign 0.10
R1489:Dnajc13 UTSW 9 104,108,234 (GRCm39) missense possibly damaging 0.94
R1575:Dnajc13 UTSW 9 104,034,037 (GRCm39) missense probably benign 0.29
R1750:Dnajc13 UTSW 9 104,098,676 (GRCm39) missense probably damaging 0.98
R1903:Dnajc13 UTSW 9 104,106,136 (GRCm39) missense probably damaging 0.98
R2066:Dnajc13 UTSW 9 104,098,640 (GRCm39) missense probably benign 0.01
R2206:Dnajc13 UTSW 9 104,080,717 (GRCm39) missense probably damaging 1.00
R3160:Dnajc13 UTSW 9 104,097,097 (GRCm39) missense possibly damaging 0.57
R3162:Dnajc13 UTSW 9 104,097,097 (GRCm39) missense possibly damaging 0.57
R4158:Dnajc13 UTSW 9 104,067,641 (GRCm39) missense probably damaging 0.96
R4460:Dnajc13 UTSW 9 104,058,262 (GRCm39) missense probably damaging 0.96
R4537:Dnajc13 UTSW 9 104,064,004 (GRCm39) intron probably benign
R4538:Dnajc13 UTSW 9 104,064,004 (GRCm39) intron probably benign
R4631:Dnajc13 UTSW 9 104,067,616 (GRCm39) missense probably damaging 1.00
R4662:Dnajc13 UTSW 9 104,084,957 (GRCm39) missense probably damaging 1.00
R4722:Dnajc13 UTSW 9 104,091,017 (GRCm39) missense probably benign
R4731:Dnajc13 UTSW 9 104,064,004 (GRCm39) intron probably benign
R4732:Dnajc13 UTSW 9 104,064,004 (GRCm39) intron probably benign
R4758:Dnajc13 UTSW 9 104,049,773 (GRCm39) missense probably damaging 1.00
R4801:Dnajc13 UTSW 9 104,052,926 (GRCm39) missense probably benign 0.16
R4802:Dnajc13 UTSW 9 104,052,926 (GRCm39) missense probably benign 0.16
R4928:Dnajc13 UTSW 9 104,110,837 (GRCm39) missense possibly damaging 0.93
R4944:Dnajc13 UTSW 9 104,044,586 (GRCm39) unclassified probably benign
R4979:Dnajc13 UTSW 9 104,063,922 (GRCm39) missense probably damaging 1.00
R5177:Dnajc13 UTSW 9 104,108,185 (GRCm39) missense probably benign 0.39
R5190:Dnajc13 UTSW 9 104,051,724 (GRCm39) missense probably benign 0.00
R5256:Dnajc13 UTSW 9 104,080,528 (GRCm39) missense possibly damaging 0.86
R5452:Dnajc13 UTSW 9 104,069,313 (GRCm39) missense probably benign 0.01
R5657:Dnajc13 UTSW 9 104,105,736 (GRCm39) missense probably damaging 1.00
R5752:Dnajc13 UTSW 9 104,069,973 (GRCm39) splice site probably null
R5789:Dnajc13 UTSW 9 104,091,387 (GRCm39) missense probably damaging 1.00
R5837:Dnajc13 UTSW 9 104,053,865 (GRCm39) missense possibly damaging 0.88
R5846:Dnajc13 UTSW 9 104,067,584 (GRCm39) missense probably damaging 0.99
R5982:Dnajc13 UTSW 9 104,061,814 (GRCm39) missense possibly damaging 0.77
R6189:Dnajc13 UTSW 9 104,091,085 (GRCm39) missense probably benign 0.12
R6355:Dnajc13 UTSW 9 104,080,469 (GRCm39) missense probably damaging 0.99
R6483:Dnajc13 UTSW 9 104,085,003 (GRCm39) missense probably damaging 0.96
R6613:Dnajc13 UTSW 9 104,091,076 (GRCm39) missense probably benign 0.07
R6962:Dnajc13 UTSW 9 104,058,208 (GRCm39) missense probably benign 0.02
R7048:Dnajc13 UTSW 9 104,080,613 (GRCm39) critical splice donor site probably null
R7101:Dnajc13 UTSW 9 104,042,221 (GRCm39) missense possibly damaging 0.92
R7304:Dnajc13 UTSW 9 104,115,713 (GRCm39) missense probably benign 0.00
R7353:Dnajc13 UTSW 9 104,107,230 (GRCm39) missense possibly damaging 0.89
R7366:Dnajc13 UTSW 9 104,061,905 (GRCm39) missense probably benign 0.43
R7528:Dnajc13 UTSW 9 104,056,164 (GRCm39) missense possibly damaging 0.65
R7635:Dnajc13 UTSW 9 104,039,566 (GRCm39) missense probably benign
R7673:Dnajc13 UTSW 9 104,110,891 (GRCm39) missense probably benign 0.09
R7856:Dnajc13 UTSW 9 104,044,684 (GRCm39) missense possibly damaging 0.83
R7931:Dnajc13 UTSW 9 104,095,763 (GRCm39) missense probably benign 0.02
R7995:Dnajc13 UTSW 9 104,051,562 (GRCm39) missense probably damaging 1.00
R8319:Dnajc13 UTSW 9 104,067,590 (GRCm39) missense probably benign 0.00
R8354:Dnajc13 UTSW 9 104,094,927 (GRCm39) missense probably damaging 1.00
R8680:Dnajc13 UTSW 9 104,057,338 (GRCm39) missense probably benign
R8686:Dnajc13 UTSW 9 104,048,004 (GRCm39) missense probably benign 0.00
R8707:Dnajc13 UTSW 9 104,069,847 (GRCm39) missense probably damaging 0.96
R8847:Dnajc13 UTSW 9 104,057,360 (GRCm39) nonsense probably null
R8868:Dnajc13 UTSW 9 104,042,987 (GRCm39) missense probably benign 0.13
R8986:Dnajc13 UTSW 9 104,057,330 (GRCm39) missense probably damaging 1.00
R9139:Dnajc13 UTSW 9 104,085,039 (GRCm39) missense probably benign 0.02
R9334:Dnajc13 UTSW 9 104,051,659 (GRCm39) missense probably benign 0.00
R9353:Dnajc13 UTSW 9 104,067,571 (GRCm39) missense probably benign 0.31
R9470:Dnajc13 UTSW 9 104,107,919 (GRCm39) missense probably benign 0.01
R9528:Dnajc13 UTSW 9 104,114,904 (GRCm39) missense probably benign
R9578:Dnajc13 UTSW 9 104,115,726 (GRCm39) missense probably benign 0.04
R9658:Dnajc13 UTSW 9 104,115,728 (GRCm39) missense probably benign 0.11
R9691:Dnajc13 UTSW 9 104,042,211 (GRCm39) missense probably damaging 1.00
X0017:Dnajc13 UTSW 9 104,115,677 (GRCm39) missense possibly damaging 0.90
X0028:Dnajc13 UTSW 9 104,042,217 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTCACGTTGTATTAAAACCAAGCCAC -3'
(R):5'- TAGGGCTAGGGTTTATCATGCCGC -3'

Sequencing Primer
(F):5'- CAAGCCACTTTTTAGCGATACAG -3'
(R):5'- GCTTACTCAGACTGTATTAAGTGGAC -3'
Posted On 2013-05-23