Incidental Mutation 'R8680:Dnajc13'
ID 661693
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 068535-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R8680 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 104028481-104140129 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104057338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1554 (V1554A)
Ref Sequence ENSEMBL: ENSMUSP00000139804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035170] [ENSMUST00000186788]
AlphaFold D4AFX7
Predicted Effect probably benign
Transcript: ENSMUST00000035170
AA Change: V1549A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035170
Gene: ENSMUSG00000032560
AA Change: V1549A

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 benign
Transcript: ENSMUST00000186788
AA Change: V1554A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139804
Gene: ENSMUSG00000032560
AA Change: V1554A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.6%
Validation Efficiency 99% (78/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T C 16: 90,852,551 (GRCm39) Y195C probably damaging Het
Abcb1a T A 5: 8,735,371 (GRCm39) F159L probably damaging Het
Adam6b A G 12: 113,454,371 (GRCm39) N396S probably benign Het
Adamts15 T C 9: 30,823,055 (GRCm39) M338V possibly damaging Het
Adamts7 T A 9: 90,077,321 (GRCm39) H1329Q probably damaging Het
Aim2 C T 1: 173,289,786 (GRCm39) P243L probably damaging Het
Ankdd1a T C 9: 65,412,418 (GRCm39) D311G probably damaging Het
Apon A T 10: 128,090,428 (GRCm39) E35D probably benign Het
Atp1a4 T C 1: 172,078,566 (GRCm39) D224G probably damaging Het
Atp6v0a1 T A 11: 100,953,229 (GRCm39) *839R probably null Het
Bco2 A G 9: 50,461,878 (GRCm39) L42P probably damaging Het
Bicral T A 17: 47,141,873 (GRCm39) probably benign Het
Ccna1 T C 3: 54,955,878 (GRCm39) Q306R probably benign Het
Cep152 G T 2: 125,406,131 (GRCm39) S1467* probably null Het
Cfap44 T A 16: 44,225,085 (GRCm39) V110E probably damaging Het
Clip2 G A 5: 134,531,462 (GRCm39) A781V probably benign Het
Cps1 A T 1: 67,243,772 (GRCm39) I1083F probably damaging Het
Cux1 A G 5: 136,336,710 (GRCm39) V934A possibly damaging Het
Depdc5 T C 5: 33,101,382 (GRCm39) F891L possibly damaging Het
Dnai7 T A 6: 145,127,542 (GRCm39) I456F probably benign Het
Echs1 A T 7: 139,690,499 (GRCm39) M191K probably damaging Het
Eif6 T A 2: 155,664,772 (GRCm39) D238V probably benign Het
Fat2 G A 11: 55,144,692 (GRCm39) L4061F probably benign Het
Fat3 T C 9: 15,908,703 (GRCm39) D2433G probably damaging Het
Flt3 A G 5: 147,320,265 (GRCm39) V33A probably benign Het
Garin2 TGATGTCACAGATGTCAC TGATGTCAC 12: 78,762,057 (GRCm39) probably benign Het
Gpr155 T C 2: 73,174,039 (GRCm39) E790G probably damaging Het
Ighv1-67 A T 12: 115,567,861 (GRCm39) V17E probably damaging Het
Klra9 T A 6: 130,165,639 (GRCm39) R125S probably damaging Het
Leo1 T C 9: 75,353,277 (GRCm39) probably null Het
Map2 G T 1: 66,460,872 (GRCm39) R1556L probably damaging Het
Megf8 A G 7: 25,059,166 (GRCm39) probably null Het
Meikin T C 11: 54,317,477 (GRCm39) I426T possibly damaging Het
Muc16 A T 9: 18,556,015 (GRCm39) V3426E unknown Het
Or4a15 T A 2: 89,193,065 (GRCm39) Y236F probably benign Het
Or51af1 G A 7: 103,142,029 (GRCm39) L19F probably damaging Het
Or52n2c A G 7: 104,574,620 (GRCm39) L117P probably damaging Het
Or7e168 T G 9: 19,720,105 (GRCm39) S164A possibly damaging Het
Or8k25 T C 2: 86,243,935 (GRCm39) I154V probably benign Het
Or9s13 T C 1: 92,547,643 (GRCm39) V5A probably benign Het
Otogl A G 10: 107,747,936 (GRCm39) probably null Het
Palm3 T C 8: 84,756,504 (GRCm39) L672P probably damaging Het
Perm1 A G 4: 156,302,091 (GRCm39) T212A probably benign Het
Poc1a T C 9: 106,226,960 (GRCm39) M400T probably benign Het
Pou6f2 T A 13: 18,414,196 (GRCm39) Q193L unknown Het
Ppl C T 16: 4,905,300 (GRCm39) R1665H probably benign Het
Ppp4r3b T C 11: 29,123,449 (GRCm39) probably null Het
Ptger1 T C 8: 84,394,654 (GRCm39) S44P probably damaging Het
Pzp T C 6: 128,473,009 (GRCm39) T787A probably benign Het
Rab44 A T 17: 29,358,642 (GRCm39) R277* probably null Het
Rasgef1a T A 6: 118,064,088 (GRCm39) I334K probably damaging Het
Rfx1 T C 8: 84,818,084 (GRCm39) V554A possibly damaging Het
Ripk1 T A 13: 34,214,032 (GRCm39) I518K possibly damaging Het
Rpl22 A G 4: 152,416,763 (GRCm39) Y90C probably damaging Het
Rps27a C A 11: 29,495,998 (GRCm39) R118L probably benign Het
Scmh1 T A 4: 120,319,331 (GRCm39) S19T probably benign Het
Scn10a C T 9: 119,520,509 (GRCm39) probably null Het
Sema4c A T 1: 36,589,867 (GRCm39) S496T probably benign Het
Serpina3i T C 12: 104,231,387 (GRCm39) V8A possibly damaging Het
Sis G A 3: 72,867,628 (GRCm39) T139M probably damaging Het
Skic3 A T 13: 76,303,587 (GRCm39) H1227L probably benign Het
Slc45a2 T A 15: 11,000,972 (GRCm39) S24T probably benign Het
Slc5a11 A G 7: 122,866,975 (GRCm39) I423M probably benign Het
Slc7a10 G A 7: 34,885,997 (GRCm39) G31S probably benign Het
Sowahc A G 10: 59,059,001 (GRCm39) N379S probably benign Het
Stat5a T C 11: 100,774,714 (GRCm39) M741T unknown Het
Tcf15 T C 2: 151,986,020 (GRCm39) S159P probably benign Het
Tdrd5 C A 1: 156,098,788 (GRCm39) R669L possibly damaging Het
Tln1 T C 4: 43,553,041 (GRCm39) E350G possibly damaging Het
Trim12c T G 7: 103,997,271 (GRCm39) N95T Het
Urb1 T C 16: 90,571,513 (GRCm39) T1099A probably benign Het
Vmn1r44 T A 6: 89,870,578 (GRCm39) V108D probably damaging Het
Vmn2r65 A G 7: 84,589,388 (GRCm39) Y843H probably benign Het
Vmn2r68 A G 7: 84,871,321 (GRCm39) I654T possibly damaging Het
Vps13a T C 19: 16,623,270 (GRCm39) N2797S possibly damaging Het
Wscd2 T C 5: 113,712,235 (GRCm39) Y385H probably damaging Het
Xdh T C 17: 74,229,500 (GRCm39) I318V probably benign Het
Xrcc3 T A 12: 111,774,313 (GRCm39) K172M 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
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
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'- AGGTCAGAAGCCGTCAACAG -3'
(R):5'- CGTCTTTGCACACTATGAGATG -3'

Sequencing Primer
(F):5'- GCCGTCAACAGCCACCTTC -3'
(R):5'- TTTGTACAAAGAGACAGCTAGTTGG -3'
Posted On 2021-03-08