Incidental Mutation 'R0831:Dnajc13'
ID 77556
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 039010-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R0831 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 104028481-104140129 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 104049811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 1765 (G1765V)
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: G1765V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035170
Gene: ENSMUSG00000032560
AA Change: G1765V

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 noncoding transcript
Transcript: ENSMUST00000185927
Predicted Effect probably damaging
Transcript: ENSMUST00000186788
AA Change: G1770V

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139804
Gene: ENSMUSG00000032560
AA Change: G1770V

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: ENSMUST00000188425
Meta Mutation Damage Score 0.1661 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 96.9%
  • 20x: 92.0%
Validation Efficiency 95% (82/86)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik C T 7: 12,284,523 (GRCm39) probably benign Het
3425401B19Rik T C 14: 32,384,228 (GRCm39) N579S probably benign Het
Adck1 G T 12: 88,335,118 (GRCm39) M1I probably null Het
Adgra3 A T 5: 50,128,144 (GRCm39) I779N probably damaging Het
Adgrf2 A G 17: 43,021,334 (GRCm39) S497P probably damaging Het
Afg3l2 A C 18: 67,554,297 (GRCm39) F468L probably damaging Het
Alms1 T A 6: 85,605,502 (GRCm39) I2384N probably benign Het
Ankrd13b A T 11: 77,363,585 (GRCm39) S244R probably damaging Het
Aox1 T A 1: 58,378,842 (GRCm39) H1030Q probably benign Het
Ap1b1 A G 11: 4,973,092 (GRCm39) probably benign Het
Atxn2l A G 7: 126,098,332 (GRCm39) S187P probably damaging Het
B4galt4 G T 16: 38,588,341 (GRCm39) E57D probably benign Het
Cad T C 5: 31,224,944 (GRCm39) V949A probably damaging Het
Cadps2 C T 6: 23,321,739 (GRCm39) S1051N possibly damaging Het
Ccdc66 C T 14: 27,219,313 (GRCm39) V148I probably benign Het
Ccser1 C T 6: 61,400,045 (GRCm39) P55S probably damaging Het
Cds2 T C 2: 132,127,887 (GRCm39) probably null Het
Cep95 A G 11: 106,705,530 (GRCm39) D548G probably benign Het
Chil3 A G 3: 106,057,063 (GRCm39) Y294H probably benign Het
Chmp5 A G 4: 40,949,500 (GRCm39) D39G probably damaging Het
Chrd T A 16: 20,560,059 (GRCm39) F887I probably damaging Het
Col24a1 G T 3: 145,034,520 (GRCm39) G580V probably damaging Het
Col6a2 A T 10: 76,439,939 (GRCm39) N655K probably damaging Het
Ctsf A T 19: 4,909,868 (GRCm39) Y416F possibly damaging Het
Dennd5a A C 7: 109,533,961 (GRCm39) V77G probably damaging Het
Dna2 A T 10: 62,795,108 (GRCm39) K460* probably null Het
Dnah17 A T 11: 117,951,097 (GRCm39) M2842K probably damaging Het
Donson A C 16: 91,480,651 (GRCm39) C243W probably damaging Het
Dpp8 A T 9: 64,985,961 (GRCm39) N817I possibly damaging Het
Eef1d G A 15: 75,768,655 (GRCm39) probably benign Het
Esf1 T A 2: 140,010,279 (GRCm39) D19V probably damaging Het
Gm21738 T A 14: 19,415,957 (GRCm38) Y194F probably benign Het
Gm21738 T C 14: 19,415,963 (GRCm38) K192R probably benign Het
Gm9867 C A 4: 140,049,799 (GRCm39) A128S unknown Het
Igsf23 G T 7: 19,675,662 (GRCm39) probably benign Het
Inhca T C 9: 103,146,978 (GRCm39) H292R possibly damaging Het
Kdm7a C A 6: 39,143,699 (GRCm39) probably benign Het
Kif14 G A 1: 136,453,609 (GRCm39) probably benign Het
Mroh7 T C 4: 106,537,990 (GRCm39) N1229D possibly damaging Het
Mrps11 C A 7: 78,441,611 (GRCm39) probably benign Het
Mtmr2 T A 9: 13,707,409 (GRCm39) D248E probably damaging Het
Myrfl C A 10: 116,619,114 (GRCm39) S748I probably benign Het
Nop14 T C 5: 34,807,864 (GRCm39) E366G possibly damaging Het
Or13c3 T G 4: 52,855,764 (GRCm39) I250L possibly damaging Het
Or2w25 C T 11: 59,504,480 (GRCm39) T230I possibly damaging Het
Or52z13 A G 7: 103,247,338 (GRCm39) I272V probably benign Het
Or7e177 T A 9: 20,211,861 (GRCm39) C123S probably benign Het
Or8g2b C T 9: 39,751,579 (GRCm39) P283L probably damaging Het
Phykpl G T 11: 51,476,366 (GRCm39) E29* probably null Het
Plppr4 A G 3: 117,125,295 (GRCm39) probably null Het
Prmt2 A C 10: 76,043,641 (GRCm39) probably benign Het
Prodh2 T A 7: 30,193,649 (GRCm39) Y114* probably null Het
Prr23a2 C A 9: 98,738,917 (GRCm39) H92N probably damaging Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rdx C A 9: 51,977,117 (GRCm39) A122E probably damaging Het
Rspo3 T G 10: 29,330,253 (GRCm39) D236A unknown Het
Sdk2 A T 11: 113,723,084 (GRCm39) D1302E probably damaging Het
Sipa1 A T 19: 5,710,382 (GRCm39) D209E probably damaging Het
Sirpa T G 2: 129,469,856 (GRCm39) probably benign Het
Ska1 A C 18: 74,330,570 (GRCm39) probably benign Het
Slc4a9 T C 18: 36,668,331 (GRCm39) probably benign Het
Slco1b2 T C 6: 141,631,172 (GRCm39) V602A probably benign Het
Slco2a1 T C 9: 102,959,533 (GRCm39) V543A probably damaging Het
Sorcs3 A T 19: 48,682,433 (GRCm39) L489F probably damaging Het
Sorl1 T C 9: 41,982,365 (GRCm39) probably benign Het
Sp140l1 C G 1: 85,077,226 (GRCm39) K113N probably benign Het
Spindoc G T 19: 7,352,100 (GRCm39) N82K probably benign Het
Stk17b C A 1: 53,796,651 (GRCm39) C372F probably damaging Het
Tbck A G 3: 132,428,052 (GRCm39) probably benign Het
Thoc1 C T 18: 9,963,267 (GRCm39) T127I probably benign Het
Togaram2 G T 17: 72,023,439 (GRCm39) R765L probably damaging Het
Tprg1 A G 16: 25,136,219 (GRCm39) Y70C probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Umodl1 T C 17: 31,215,325 (GRCm39) Y1050H probably damaging Het
Vmn1r205 T A 13: 22,776,586 (GRCm39) D172V probably benign Het
Vmn1r79 A T 7: 11,910,990 (GRCm39) N291Y probably damaging Het
Vmn2r112 T A 17: 22,833,980 (GRCm39) N549K probably damaging Het
Vrk3 T A 7: 44,414,227 (GRCm39) L241Q probably damaging Het
Zc3h7a A G 16: 10,969,744 (GRCm39) S386P probably 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
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'- GAACCACCCTGAATGACAGTGTCC -3'
(R):5'- TGCTATTTACGGCTTAACACCCTGC -3'

Sequencing Primer
(F):5'- ATGACAGTGTCCAGCATTTGC -3'
(R):5'- TGCACAGCTTCCAGATAGACG -3'
Posted On 2013-10-16