Incidental Mutation 'R4928:Dnajc13'
ID 381017
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 042529-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R4928 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 104028481-104140129 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104110837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 145 (N145D)
Ref Sequence ENSEMBL: ENSMUSP00000035170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035170] [ENSMUST00000186788]
AlphaFold D4AFX7
Predicted Effect possibly damaging
Transcript: ENSMUST00000035170
AA Change: N145D

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035170
Gene: ENSMUSG00000032560
AA Change: N145D

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 possibly damaging
Transcript: ENSMUST00000186788
AA Change: N145D

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139804
Gene: ENSMUSG00000032560
AA Change: N145D

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: ENSMUST00000189299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190600
Meta Mutation Damage Score 0.1234 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 98% (123/126)
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: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530021J07Rik G T 7: 82,805,086 (GRCm39) noncoding transcript Het
Aasdh T A 5: 77,044,535 (GRCm39) K118N possibly damaging Het
Abca14 A T 7: 119,923,803 (GRCm39) N1620I possibly damaging Het
Acap1 A T 11: 69,776,641 (GRCm39) S149T possibly damaging Het
Adgre1 T A 17: 57,751,064 (GRCm39) Y579* probably null Het
Aifm3 T C 16: 17,318,296 (GRCm39) probably benign Het
Aldh16a1 A G 7: 44,791,385 (GRCm39) W107R probably damaging Het
Amer2 A T 14: 60,616,894 (GRCm39) H363L possibly damaging Het
Arhgap10 A G 8: 78,152,957 (GRCm39) probably null Het
Arhgef6 A T X: 56,280,238 (GRCm39) D742E probably damaging Het
Astn2 A T 4: 65,647,644 (GRCm39) N731K probably damaging Het
Atp1a2 T C 1: 172,105,954 (GRCm39) T904A possibly damaging Het
Atr C T 9: 95,789,352 (GRCm39) R1503W probably damaging Het
Cdh3 G T 8: 107,263,242 (GRCm39) R97L probably benign Het
Chst2 C T 9: 95,288,059 (GRCm39) V96I probably benign Het
Cit T A 5: 116,123,856 (GRCm39) N1464K probably benign Het
Col17a1 A T 19: 47,658,897 (GRCm39) probably null Het
Col4a3 G A 1: 82,688,698 (GRCm39) probably benign Het
Copz1 T A 15: 103,199,757 (GRCm39) S57R probably damaging Het
Cpped1 A T 16: 11,646,143 (GRCm39) F227Y probably damaging Het
Cyp2j12 A T 4: 95,990,388 (GRCm39) probably null Het
Dctn1 T A 6: 83,166,189 (GRCm39) I195N possibly damaging Het
Dhrs7b A G 11: 60,742,751 (GRCm39) I148V probably benign Het
Dnah17 T C 11: 117,918,259 (GRCm39) D4096G probably damaging Het
Ecpas A G 4: 58,827,073 (GRCm39) V1020A probably damaging Het
Entrep2 G T 7: 64,409,116 (GRCm39) S426* probably null Het
Ercc6l2 T C 13: 64,042,627 (GRCm39) probably benign Het
Fads6 T G 11: 115,187,387 (GRCm39) I103L probably benign Het
Fat4 T G 3: 39,064,614 (GRCm39) Y4857D probably damaging Het
Fbxl14 T A 6: 119,457,671 (GRCm39) L284Q probably damaging Het
Fkbp9 T C 6: 56,826,655 (GRCm39) V85A possibly damaging Het
Galnt13 T A 2: 54,406,577 (GRCm39) V9E probably damaging Het
Gm14412 A T 2: 177,006,373 (GRCm39) S507R probably benign Het
Gm15142 T A X: 153,421,415 (GRCm39) noncoding transcript Het
Gm4787 T C 12: 81,425,612 (GRCm39) E182G probably benign Het
Gm6811 C A 17: 21,314,893 (GRCm39) noncoding transcript Het
Gm9791 A T 3: 34,059,218 (GRCm39) noncoding transcript Het
Hoxb7 A T 11: 96,180,336 (GRCm39) probably null Het
Ift122 T A 6: 115,892,819 (GRCm39) probably benign Het
Krt28 C T 11: 99,265,458 (GRCm39) V70I probably benign Het
Lig1 T C 7: 13,032,664 (GRCm39) S459P probably damaging Het
Lrfn3 C T 7: 30,060,048 (GRCm39) R59H possibly damaging Het
Mavs T C 2: 131,088,663 (GRCm39) V489A probably benign Het
Mcm8 C T 2: 132,681,399 (GRCm39) P625L probably benign Het
Megf10 G T 18: 57,373,745 (GRCm39) R181L probably benign Het
Mgrn1 G A 16: 4,745,726 (GRCm39) G440D probably benign Het
Mllt3 T C 4: 87,700,642 (GRCm39) probably null Het
Muc5ac T A 7: 141,371,639 (GRCm39) Y2613* probably null Het
Myh14 C T 7: 44,284,926 (GRCm39) G662S probably benign Het
Myod1 T A 7: 46,026,474 (GRCm39) N126K probably damaging Het
Nae1 A T 8: 105,242,774 (GRCm39) H439Q possibly damaging Het
Narf T A 11: 121,135,765 (GRCm39) V136E possibly damaging Het
Ncapd3 T A 9: 26,983,031 (GRCm39) C926* probably null Het
Ndufv2 C A 17: 66,399,653 (GRCm39) probably null Het
Neb T C 2: 52,102,987 (GRCm39) S449G possibly damaging Het
Nek10 C T 14: 14,930,577 (GRCm38) P698L probably damaging Het
Nox3 T A 17: 3,685,550 (GRCm39) E566V probably null Het
Oas1a C T 5: 121,043,787 (GRCm39) R115H probably benign Het
Or10ag60 C A 2: 87,438,487 (GRCm39) L252I probably benign Het
Or51b6 A G 7: 103,555,879 (GRCm39) T78A probably damaging Het
Or5w19 A G 2: 87,698,574 (GRCm39) M80V probably benign Het
Or8k30 T A 2: 86,339,469 (GRCm39) L222H probably damaging Het
Pbld2 A G 10: 62,883,778 (GRCm39) H142R probably damaging Het
Pcdha4 C T 18: 37,087,869 (GRCm39) T684M probably benign Het
Phc3 G T 3: 31,005,068 (GRCm39) T175N probably damaging Het
Pigs G T 11: 78,219,828 (GRCm39) V68L probably damaging Het
Pik3c2g T A 6: 139,913,528 (GRCm39) D857E possibly damaging Het
Pitpnm3 G A 11: 71,953,998 (GRCm39) P550S probably damaging Het
Pla2g15 G A 8: 106,889,850 (GRCm39) W374* probably null Het
Ptpn14 G A 1: 189,554,839 (GRCm39) C133Y probably damaging Het
Ptpn20 A G 14: 33,336,446 (GRCm39) N95S probably benign Het
Ptrh2 G T 11: 86,580,862 (GRCm39) V160F probably damaging Het
Rapgef3 T C 15: 97,655,256 (GRCm39) D486G probably damaging Het
Rev3l T G 10: 39,699,981 (GRCm39) S1493A probably benign Het
Rgs9 T A 11: 109,116,570 (GRCm39) D411V probably benign Het
Rgsl1 A T 1: 153,669,514 (GRCm39) Y291N probably damaging Het
Rprd2 A G 3: 95,671,849 (GRCm39) Y1185H probably damaging Het
Rpusd3 A G 6: 113,393,167 (GRCm39) probably benign Het
Scnn1a T C 6: 125,299,136 (GRCm39) I72T probably damaging Het
Sdk1 A T 5: 141,842,758 (GRCm39) probably benign Het
Sfmbt2 T C 2: 10,450,556 (GRCm39) L277P probably benign Het
Sgf29 A G 7: 126,264,154 (GRCm39) E73G probably damaging Het
Slc12a6 T A 2: 112,183,306 (GRCm39) F764L probably damaging Het
Slc4a2 T C 5: 24,640,340 (GRCm39) probably null Het
Slc9a3 T G 13: 74,305,838 (GRCm39) V285G probably damaging Het
Slc9c1 A G 16: 45,395,772 (GRCm39) T608A probably benign Het
Slfnl1 C T 4: 120,392,882 (GRCm39) R325C probably damaging Het
Smarcad1 T A 6: 65,051,898 (GRCm39) F344I probably benign Het
Snrnp70 A T 7: 45,026,705 (GRCm39) probably null Het
Sod2 C T 17: 13,227,073 (GRCm39) T9M probably benign Het
Spag5 T A 11: 78,205,199 (GRCm39) S633T probably damaging Het
Spta1 A T 1: 174,018,622 (GRCm39) I531L probably benign Het
Stra8 A G 6: 34,910,091 (GRCm39) E60G probably benign Het
Sult2a3 T A 7: 13,845,482 (GRCm39) I126F probably benign Het
Syt1 T C 10: 108,340,373 (GRCm39) H315R possibly damaging Het
Tanc2 T C 11: 105,758,588 (GRCm39) L783P probably damaging Het
Thbs2 C T 17: 14,899,162 (GRCm39) C646Y probably damaging Het
Ticam2 T A 18: 46,693,989 (GRCm39) K33* probably null Het
Trim17 T C 11: 58,845,127 (GRCm39) probably benign Het
Tsr1 G A 11: 74,798,705 (GRCm39) M691I probably benign Het
Ttn T A 2: 76,592,763 (GRCm39) I20790F probably damaging Het
Tubb2b A T 13: 34,312,168 (GRCm39) Y208* probably null Het
Ubr1 T A 2: 120,745,419 (GRCm39) I890F probably damaging Het
Usp54 T C 14: 20,612,260 (GRCm39) E852G probably damaging Het
Vmn2r78 T C 7: 86,603,835 (GRCm39) V671A probably damaging Het
Wipi1 T C 11: 109,470,475 (GRCm39) K315E probably benign Het
Xrn2 T C 2: 146,893,638 (GRCm39) V735A possibly damaging Het
Zdbf2 T A 1: 63,347,973 (GRCm39) D2117E possibly damaging Het
Zfp287 A T 11: 62,604,962 (GRCm39) C648* probably null Het
Zfp369 A G 13: 65,444,614 (GRCm39) T586A possibly damaging 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
R0480:Dnajc13 UTSW 9 104,077,708 (GRCm39) missense probably damaging 0.98
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
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'- CTACAGTCATGTGTAGCCAAGTTC -3'
(R):5'- TGGTCCTTTCAGCAGTGATTAC -3'

Sequencing Primer
(F):5'- AGATCTATCTCAGGTCCTCAGG -3'
(R):5'- GTCCTTTCAGCAGTGATTACATAGTC -3'
Posted On 2016-04-15