Incidental Mutation 'R1463:Dnajc13'
ID 159235
Institutional Source Beutler Lab
Gene Symbol Dnajc13
Ensembl Gene ENSMUSG00000032560
Gene Name DnaJ heat shock protein family (Hsp40) member C13
Synonyms LOC382100, D030002L11Rik, Rme8
MMRRC Submission 039517-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R1463 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 104151282-104262930 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104178940 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1587 (S1587R)
Ref Sequence ENSEMBL: ENSMUSP00000139804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035170] [ENSMUST00000186788]
AlphaFold D4AFX7
Predicted Effect probably damaging
Transcript: ENSMUST00000035170
AA Change: S1582R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035170
Gene: ENSMUSG00000032560
AA Change: S1582R

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 probably damaging
Transcript: ENSMUST00000186788
AA Change: S1587R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139804
Gene: ENSMUSG00000032560
AA Change: S1587R

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: ENSMUST00000191199
Meta Mutation Damage Score 0.5536 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.6%
Validation Efficiency 97% (97/100)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik C A 5: 5,452,073 (GRCm38) probably benign Het
4931408C20Rik G T 1: 26,682,141 (GRCm38) Y1319* probably null Het
Abca5 A T 11: 110,314,558 (GRCm38) I299N probably damaging Het
Abcc8 T C 7: 46,154,512 (GRCm38) T413A probably benign Het
Actc1 G A 2: 114,049,529 (GRCm38) S201F probably damaging Het
Adam30 G A 3: 98,162,525 (GRCm38) C558Y probably damaging Het
Adcy4 T A 14: 55,778,939 (GRCm38) I352F probably damaging Het
Adgrl4 A T 3: 151,510,596 (GRCm38) D472V probably damaging Het
Afap1l2 T A 19: 56,930,151 (GRCm38) M117L probably benign Het
AI597479 T C 1: 43,113,229 (GRCm38) V229A probably damaging Het
Ascc1 T C 10: 60,062,516 (GRCm38) V267A probably benign Het
Asxl3 A G 18: 22,516,753 (GRCm38) S600G possibly damaging Het
Atg14 T C 14: 47,548,994 (GRCm38) I268V probably benign Het
Bcas1 C T 2: 170,418,664 (GRCm38) V32I probably benign Het
Cacna1c G T 6: 118,593,994 (GRCm38) D2106E probably benign Het
Cacna1i A G 15: 80,379,054 (GRCm38) H1440R possibly damaging Het
Catsper2 G A 2: 121,406,446 (GRCm38) T240M probably damaging Het
Cd163 A G 6: 124,311,447 (GRCm38) E279G probably damaging Het
Cdx2 C T 5: 147,306,660 (GRCm38) S108N probably benign Het
Cenpf A T 1: 189,654,739 (GRCm38) N1781K probably damaging Het
Cgref1 T A 5: 30,935,994 (GRCm38) probably benign Het
Clcn4 C T 7: 7,296,764 (GRCm38) W22* probably null Het
Cntn2 A G 1: 132,521,137 (GRCm38) probably null Het
Cntn5 C T 9: 9,673,796 (GRCm38) probably null Het
Cpeb3 A G 19: 37,139,100 (GRCm38) M377T probably benign Het
Cryge T A 1: 65,048,838 (GRCm38) R135* probably null Het
Ctdsp2 C A 10: 126,993,921 (GRCm38) probably benign Het
Ctsll3 G A 13: 60,801,275 (GRCm38) probably benign Het
Cuzd1 C A 7: 131,316,642 (GRCm38) G189C probably damaging Het
Dmbt1 T A 7: 131,109,637 (GRCm38) probably null Het
Dock4 GCTCAGTGTATC GC 12: 40,816,325 (GRCm38) probably null Het
Dock6 T C 9: 21,831,906 (GRCm38) H701R probably damaging Het
Edem3 A G 1: 151,807,510 (GRCm38) T646A possibly damaging Het
Esrra A C 19: 6,912,455 (GRCm38) D160E probably benign Het
Fbn2 T C 18: 58,010,380 (GRCm38) T2868A probably benign Het
Galnt7 T A 8: 57,652,858 (GRCm38) M41L probably benign Het
Gbf1 T C 19: 46,271,545 (GRCm38) probably benign Het
Glyat A G 19: 12,648,103 (GRCm38) N63S probably damaging Het
Gm9376 A T 14: 118,267,482 (GRCm38) M109L probably benign Het
H2-M10.3 A G 17: 36,366,720 (GRCm38) V222A probably damaging Het
Ifna12 T G 4: 88,602,956 (GRCm38) D118A possibly damaging Het
Inpp5j T C 11: 3,501,147 (GRCm38) M501V probably benign Het
Itpr3 C T 17: 27,117,154 (GRCm38) probably benign Het
Ivns1abp A G 1: 151,361,540 (GRCm38) N527S probably benign Het
Kif13a T C 13: 46,929,612 (GRCm38) T4A possibly damaging Het
Kif3b T C 2: 153,330,153 (GRCm38) *748Q probably null Het
Klf8 C T X: 153,384,681 (GRCm38) Q241* probably null Het
Kras A T 6: 145,225,061 (GRCm38) probably benign Het
Lamc3 C A 2: 31,887,411 (GRCm38) T23K probably benign Het
Lrrc74b T A 16: 17,559,873 (GRCm38) H47L probably benign Het
Ly75 A G 2: 60,368,757 (GRCm38) probably null Het
Map3k21 G A 8: 125,942,137 (GRCm38) G821S probably benign Het
Mettl14 A G 3: 123,374,073 (GRCm38) probably benign Het
Mettl5 T C 2: 69,885,246 (GRCm38) probably benign Het
Mier3 A G 13: 111,711,755 (GRCm38) D301G probably damaging Het
Mipep T C 14: 60,788,146 (GRCm38) probably benign Het
Mmp21 T C 7: 133,675,859 (GRCm38) probably null Het
Msh4 A G 3: 153,857,570 (GRCm38) L723P probably damaging Het
Muc5b T C 7: 141,859,080 (GRCm38) V1921A unknown Het
Myo1e G A 9: 70,338,756 (GRCm38) E410K possibly damaging Het
Nav2 T G 7: 49,535,962 (GRCm38) I951S probably damaging Het
Npc1 G A 18: 12,191,830 (GRCm38) T1202I probably damaging Het
Olfr1441 C T 19: 12,422,888 (GRCm38) T193I probably benign Het
Olfr218 A G 1: 173,203,367 (GRCm38) K4E probably benign Het
Olfr324 A G 11: 58,598,121 (GRCm38) R242G probably damaging Het
Patl2 C T 2: 122,123,735 (GRCm38) V452M probably benign Het
Pcdh18 A G 3: 49,755,405 (GRCm38) V487A probably damaging Het
Pdzph1 C T 17: 58,932,445 (GRCm38) A963T probably damaging Het
Pkd1l1 C T 11: 8,916,302 (GRCm38) V518M probably damaging Het
Plcd3 A G 11: 103,078,373 (GRCm38) F256S probably damaging Het
Proc T C 18: 32,133,438 (GRCm38) D112G possibly damaging Het
Ptges2 T A 2: 32,400,862 (GRCm38) probably null Het
Pth2r A T 1: 65,363,277 (GRCm38) R312W probably damaging Het
Rbbp6 C T 7: 122,992,453 (GRCm38) H546Y possibly damaging Het
Retreg2 A G 1: 75,146,520 (GRCm38) E364G probably damaging Het
Rxrb G A 17: 34,034,160 (GRCm38) C185Y probably damaging Het
Sept2 T A 1: 93,499,315 (GRCm38) N133K possibly damaging Het
Serpina3b T A 12: 104,138,710 (GRCm38) S382T probably benign Het
Serpinb9e T C 13: 33,255,116 (GRCm38) F175S probably benign Het
Slc19a2 C T 1: 164,257,197 (GRCm38) H219Y probably damaging Het
Slfn9 A T 11: 82,981,698 (GRCm38) D737E possibly damaging Het
Snx31 T C 15: 36,539,298 (GRCm38) E144G probably null Het
Sp2 A G 11: 96,963,456 (GRCm38) probably benign Het
Spag9 C T 11: 94,116,837 (GRCm38) L1117F probably damaging Het
Syndig1l A T 12: 84,680,363 (GRCm38) probably benign Het
Sypl A T 12: 32,974,333 (GRCm38) probably benign Het
Tmem169 T C 1: 72,300,696 (GRCm38) M95T probably benign Het
Tmem206 T C 1: 191,328,289 (GRCm38) probably benign Het
Tnfrsf17 A G 16: 11,315,202 (GRCm38) Y48C possibly damaging Het
Ttn A T 2: 76,827,515 (GRCm38) probably benign Het
Uap1 G C 1: 170,150,383 (GRCm38) H366Q probably benign Het
Ulbp1 A G 10: 7,446,557 (GRCm38) probably benign Het
Urb2 T C 8: 124,030,908 (GRCm38) V1118A probably benign Het
Usp54 T C 14: 20,550,190 (GRCm38) N1493S probably benign Het
Vmn1r129 C A 7: 21,360,730 (GRCm38) V188F probably benign Het
Vmn1r226 A T 17: 20,687,732 (GRCm38) L75F probably benign Het
Wdr78 T A 4: 103,087,418 (GRCm38) L245F possibly damaging Het
Wisp1 T A 15: 66,919,271 (GRCm38) N307K possibly damaging Het
Yes1 T A 5: 32,651,702 (GRCm38) S137R probably benign Het
Zfp804b A G 5: 7,179,372 (GRCm38) probably benign Het
Other mutations in Dnajc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Dnajc13 APN 9 104,162,780 (GRCm38) missense probably benign 0.15
IGL00754:Dnajc13 APN 9 104,174,498 (GRCm38) nonsense probably null
IGL00914:Dnajc13 APN 9 104,212,882 (GRCm38) missense possibly damaging 0.90
IGL01014:Dnajc13 APN 9 104,203,218 (GRCm38) missense probably damaging 1.00
IGL01077:Dnajc13 APN 9 104,231,021 (GRCm38) missense probably benign 0.11
IGL01137:Dnajc13 APN 9 104,160,490 (GRCm38) missense probably benign
IGL01305:Dnajc13 APN 9 104,230,637 (GRCm38) splice site probably null
IGL01707:Dnajc13 APN 9 104,228,979 (GRCm38) missense probably damaging 1.00
IGL01781:Dnajc13 APN 9 104,162,359 (GRCm38) missense possibly damaging 0.82
IGL01868:Dnajc13 APN 9 104,162,745 (GRCm38) missense possibly damaging 0.83
IGL01950:Dnajc13 APN 9 104,190,432 (GRCm38) missense possibly damaging 0.85
IGL02102:Dnajc13 APN 9 104,229,009 (GRCm38) missense possibly damaging 0.78
IGL02350:Dnajc13 APN 9 104,162,359 (GRCm38) missense possibly damaging 0.82
IGL02357:Dnajc13 APN 9 104,162,359 (GRCm38) missense possibly damaging 0.82
IGL02470:Dnajc13 APN 9 104,175,747 (GRCm38) missense probably benign 0.17
IGL02888:Dnajc13 APN 9 104,180,062 (GRCm38) splice site probably benign
IGL03079:Dnajc13 APN 9 104,212,869 (GRCm38) nonsense probably null
IGL03179:Dnajc13 APN 9 104,167,435 (GRCm38) missense probably benign 0.42
IGL03293:Dnajc13 APN 9 104,174,426 (GRCm38) missense possibly damaging 0.64
impressario UTSW 9 104,213,886 (GRCm38) missense probably benign 0.12
Kaiser UTSW 9 104,214,188 (GRCm38) missense probably damaging 1.00
BB008:Dnajc13 UTSW 9 104,218,564 (GRCm38) missense probably benign 0.02
BB018:Dnajc13 UTSW 9 104,218,564 (GRCm38) missense probably benign 0.02
PIT4142001:Dnajc13 UTSW 9 104,238,473 (GRCm38) missense probably damaging 0.96
R0323:Dnajc13 UTSW 9 104,156,892 (GRCm38) missense probably damaging 1.00
R0361:Dnajc13 UTSW 9 104,167,059 (GRCm38) missense probably benign 0.18
R0480:Dnajc13 UTSW 9 104,200,509 (GRCm38) missense probably damaging 0.98
R0558:Dnajc13 UTSW 9 104,201,952 (GRCm38) critical splice acceptor site probably null
R0707:Dnajc13 UTSW 9 104,172,582 (GRCm38) missense probably benign 0.12
R0831:Dnajc13 UTSW 9 104,172,612 (GRCm38) missense probably damaging 1.00
R1234:Dnajc13 UTSW 9 104,214,157 (GRCm38) missense possibly damaging 0.64
R1433:Dnajc13 UTSW 9 104,180,121 (GRCm38) missense probably damaging 1.00
R1464:Dnajc13 UTSW 9 104,214,167 (GRCm38) missense probably benign 0.10
R1464:Dnajc13 UTSW 9 104,214,167 (GRCm38) missense probably benign 0.10
R1489:Dnajc13 UTSW 9 104,231,035 (GRCm38) missense possibly damaging 0.94
R1575:Dnajc13 UTSW 9 104,156,838 (GRCm38) missense probably benign 0.29
R1750:Dnajc13 UTSW 9 104,221,477 (GRCm38) missense probably damaging 0.98
R1903:Dnajc13 UTSW 9 104,228,937 (GRCm38) missense probably damaging 0.98
R2066:Dnajc13 UTSW 9 104,221,441 (GRCm38) missense probably benign 0.01
R2206:Dnajc13 UTSW 9 104,203,518 (GRCm38) missense probably damaging 1.00
R3160:Dnajc13 UTSW 9 104,219,898 (GRCm38) missense possibly damaging 0.57
R3162:Dnajc13 UTSW 9 104,219,898 (GRCm38) missense possibly damaging 0.57
R4158:Dnajc13 UTSW 9 104,190,442 (GRCm38) missense probably damaging 0.96
R4460:Dnajc13 UTSW 9 104,181,063 (GRCm38) missense probably damaging 0.96
R4537:Dnajc13 UTSW 9 104,186,805 (GRCm38) intron probably benign
R4538:Dnajc13 UTSW 9 104,186,805 (GRCm38) intron probably benign
R4631:Dnajc13 UTSW 9 104,190,417 (GRCm38) missense probably damaging 1.00
R4662:Dnajc13 UTSW 9 104,207,758 (GRCm38) missense probably damaging 1.00
R4722:Dnajc13 UTSW 9 104,213,818 (GRCm38) missense probably benign
R4731:Dnajc13 UTSW 9 104,186,805 (GRCm38) intron probably benign
R4732:Dnajc13 UTSW 9 104,186,805 (GRCm38) intron probably benign
R4758:Dnajc13 UTSW 9 104,172,574 (GRCm38) missense probably damaging 1.00
R4801:Dnajc13 UTSW 9 104,175,727 (GRCm38) missense probably benign 0.16
R4802:Dnajc13 UTSW 9 104,175,727 (GRCm38) missense probably benign 0.16
R4928:Dnajc13 UTSW 9 104,233,638 (GRCm38) missense possibly damaging 0.93
R4944:Dnajc13 UTSW 9 104,167,387 (GRCm38) unclassified probably benign
R4979:Dnajc13 UTSW 9 104,186,723 (GRCm38) missense probably damaging 1.00
R5177:Dnajc13 UTSW 9 104,230,986 (GRCm38) missense probably benign 0.39
R5190:Dnajc13 UTSW 9 104,174,525 (GRCm38) missense probably benign 0.00
R5256:Dnajc13 UTSW 9 104,203,329 (GRCm38) missense possibly damaging 0.86
R5452:Dnajc13 UTSW 9 104,192,114 (GRCm38) missense probably benign 0.01
R5657:Dnajc13 UTSW 9 104,228,537 (GRCm38) missense probably damaging 1.00
R5752:Dnajc13 UTSW 9 104,192,774 (GRCm38) splice site probably null
R5789:Dnajc13 UTSW 9 104,214,188 (GRCm38) missense probably damaging 1.00
R5837:Dnajc13 UTSW 9 104,176,666 (GRCm38) missense possibly damaging 0.88
R5846:Dnajc13 UTSW 9 104,190,385 (GRCm38) missense probably damaging 0.99
R5982:Dnajc13 UTSW 9 104,184,615 (GRCm38) missense possibly damaging 0.77
R6189:Dnajc13 UTSW 9 104,213,886 (GRCm38) missense probably benign 0.12
R6355:Dnajc13 UTSW 9 104,203,270 (GRCm38) missense probably damaging 0.99
R6483:Dnajc13 UTSW 9 104,207,804 (GRCm38) missense probably damaging 0.96
R6613:Dnajc13 UTSW 9 104,213,877 (GRCm38) missense probably benign 0.07
R6962:Dnajc13 UTSW 9 104,181,009 (GRCm38) missense probably benign 0.02
R7048:Dnajc13 UTSW 9 104,203,414 (GRCm38) critical splice donor site probably null
R7101:Dnajc13 UTSW 9 104,165,022 (GRCm38) missense possibly damaging 0.92
R7304:Dnajc13 UTSW 9 104,238,514 (GRCm38) missense probably benign 0.00
R7353:Dnajc13 UTSW 9 104,230,031 (GRCm38) missense possibly damaging 0.89
R7366:Dnajc13 UTSW 9 104,184,706 (GRCm38) missense probably benign 0.43
R7528:Dnajc13 UTSW 9 104,178,965 (GRCm38) missense possibly damaging 0.65
R7635:Dnajc13 UTSW 9 104,162,367 (GRCm38) missense probably benign
R7673:Dnajc13 UTSW 9 104,233,692 (GRCm38) missense probably benign 0.09
R7856:Dnajc13 UTSW 9 104,167,485 (GRCm38) missense possibly damaging 0.83
R7931:Dnajc13 UTSW 9 104,218,564 (GRCm38) missense probably benign 0.02
R7995:Dnajc13 UTSW 9 104,174,363 (GRCm38) missense probably damaging 1.00
R8319:Dnajc13 UTSW 9 104,190,391 (GRCm38) missense probably benign 0.00
R8354:Dnajc13 UTSW 9 104,217,728 (GRCm38) missense probably damaging 1.00
R8680:Dnajc13 UTSW 9 104,180,139 (GRCm38) missense probably benign
R8686:Dnajc13 UTSW 9 104,170,805 (GRCm38) missense probably benign 0.00
R8707:Dnajc13 UTSW 9 104,192,648 (GRCm38) missense probably damaging 0.96
R8847:Dnajc13 UTSW 9 104,180,161 (GRCm38) nonsense probably null
R8868:Dnajc13 UTSW 9 104,165,788 (GRCm38) missense probably benign 0.13
R8986:Dnajc13 UTSW 9 104,180,131 (GRCm38) missense probably damaging 1.00
R9139:Dnajc13 UTSW 9 104,207,840 (GRCm38) missense probably benign 0.02
R9334:Dnajc13 UTSW 9 104,174,460 (GRCm38) missense probably benign 0.00
R9353:Dnajc13 UTSW 9 104,190,372 (GRCm38) missense probably benign 0.31
R9470:Dnajc13 UTSW 9 104,230,720 (GRCm38) missense probably benign 0.01
R9528:Dnajc13 UTSW 9 104,237,705 (GRCm38) missense probably benign
R9578:Dnajc13 UTSW 9 104,238,527 (GRCm38) missense probably benign 0.04
R9658:Dnajc13 UTSW 9 104,238,529 (GRCm38) missense probably benign 0.11
R9691:Dnajc13 UTSW 9 104,165,012 (GRCm38) missense probably damaging 1.00
X0017:Dnajc13 UTSW 9 104,238,478 (GRCm38) missense possibly damaging 0.90
X0028:Dnajc13 UTSW 9 104,165,018 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGTCTTCTTAGCCGAGAGAACAAGC -3'
(R):5'- AACTCAAATGCGCCGGTCTGTG -3'

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