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 LOC382100, D030002L11Rik, Rme8
MMRRC Submission 039010-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R0831 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 104151282-104262930 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 104172612 bp (GRCm38)
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: 12,550,596 (GRCm38) probably benign Het
3425401B19Rik T C 14: 32,662,271 (GRCm38) N579S probably benign Het
Adck1 G T 12: 88,368,348 (GRCm38) M1I probably null Het
Adgra3 A T 5: 49,970,802 (GRCm38) I779N probably damaging Het
Adgrf2 A G 17: 42,710,443 (GRCm38) S497P probably damaging Het
Afg3l2 A C 18: 67,421,227 (GRCm38) F468L probably damaging Het
Alms1 T A 6: 85,628,520 (GRCm38) I2384N probably benign Het
Ankrd13b A T 11: 77,472,759 (GRCm38) S244R probably damaging Het
Aox2 T A 1: 58,339,683 (GRCm38) H1030Q probably benign Het
Ap1b1 A G 11: 5,023,092 (GRCm38) probably benign Het
Atxn2l A G 7: 126,499,160 (GRCm38) S187P probably damaging Het
B4galt4 G T 16: 38,767,979 (GRCm38) E57D probably benign Het
Cad T C 5: 31,067,600 (GRCm38) V949A probably damaging Het
Cadps2 C T 6: 23,321,740 (GRCm38) S1051N possibly damaging Het
Ccdc66 C T 14: 27,497,356 (GRCm38) V148I probably benign Het
Ccser1 C T 6: 61,423,061 (GRCm38) P55S probably damaging Het
Cds2 T C 2: 132,285,967 (GRCm38) probably null Het
Cep95 A G 11: 106,814,704 (GRCm38) D548G probably benign Het
Chil3 A G 3: 106,149,747 (GRCm38) Y294H probably benign Het
Chmp5 A G 4: 40,949,500 (GRCm38) D39G probably damaging Het
Chrd T A 16: 20,741,309 (GRCm38) F887I probably damaging Het
Col24a1 G T 3: 145,328,759 (GRCm38) G580V probably damaging Het
Col6a2 A T 10: 76,604,105 (GRCm38) N655K probably damaging Het
Ctsf A T 19: 4,859,840 (GRCm38) Y416F possibly damaging Het
Dennd5a A C 7: 109,934,754 (GRCm38) V77G probably damaging Het
Dna2 A T 10: 62,959,329 (GRCm38) K460* probably null Het
Dnah17 A T 11: 118,060,271 (GRCm38) M2842K probably damaging Het
Donson A C 16: 91,683,763 (GRCm38) C243W probably damaging Het
Dpp8 A T 9: 65,078,679 (GRCm38) N817I possibly damaging Het
Eef1d G A 15: 75,896,806 (GRCm38) probably benign Het
Esf1 T A 2: 140,168,359 (GRCm38) D19V probably damaging Het
Gm21738 T C 14: 19,415,963 (GRCm38) K192R probably benign Het
Gm21738 T A 14: 19,415,957 (GRCm38) Y194F probably benign Het
Gm9867 C A 4: 140,322,488 (GRCm38) A128S unknown Het
Igsf23 G T 7: 19,941,737 (GRCm38) probably benign Het
Inhca T C 9: 103,269,779 (GRCm38) H292R possibly damaging Het
Kdm7a C A 6: 39,166,765 (GRCm38) probably benign Het
Kif14 G A 1: 136,525,871 (GRCm38) probably benign Het
Mroh7 T C 4: 106,680,793 (GRCm38) N1229D possibly damaging Het
Mrps11 C A 7: 78,791,863 (GRCm38) probably benign Het
Mtmr2 T A 9: 13,796,113 (GRCm38) D248E probably damaging Het
Myrfl C A 10: 116,783,209 (GRCm38) S748I probably benign Het
Nop14 T C 5: 34,650,520 (GRCm38) E366G possibly damaging Het
Or13c3 T G 4: 52,855,764 (GRCm38) I250L possibly damaging Het
Or2w25 C T 11: 59,613,654 (GRCm38) T230I possibly damaging Het
Or52z13 A G 7: 103,598,131 (GRCm38) I272V probably benign Het
Or7e177 T A 9: 20,300,565 (GRCm38) C123S probably benign Het
Or8g2b C T 9: 39,840,283 (GRCm38) P283L probably damaging Het
Phykpl G T 11: 51,585,539 (GRCm38) E29* probably null Het
Plppr4 A G 3: 117,331,646 (GRCm38) probably null Het
Prmt2 A C 10: 76,207,807 (GRCm38) probably benign Het
Prodh2 T A 7: 30,494,224 (GRCm38) Y114* probably null Het
Prr23a2 C A 9: 98,856,864 (GRCm38) H92N probably damaging Het
Rasl10b G A 11: 83,417,839 (GRCm38) probably null Het
Rdx C A 9: 52,065,817 (GRCm38) A122E probably damaging Het
Rspo3 T G 10: 29,454,257 (GRCm38) D236A unknown Het
Sdk2 A T 11: 113,832,258 (GRCm38) D1302E probably damaging Het
Sipa1 A T 19: 5,660,354 (GRCm38) D209E probably damaging Het
Sirpa T G 2: 129,627,936 (GRCm38) probably benign Het
Ska1 A C 18: 74,197,499 (GRCm38) probably benign Het
Slc4a9 T C 18: 36,535,278 (GRCm38) probably benign Het
Slco1b2 T C 6: 141,685,446 (GRCm38) V602A probably benign Het
Slco2a1 T C 9: 103,082,334 (GRCm38) V543A probably damaging Het
Sorcs3 A T 19: 48,693,994 (GRCm38) L489F probably damaging Het
Sorl1 T C 9: 42,071,069 (GRCm38) probably benign Het
Sp140l1 C G 1: 85,099,505 (GRCm38) K113N probably benign Het
Spindoc G T 19: 7,374,735 (GRCm38) N82K probably benign Het
Stk17b C A 1: 53,757,492 (GRCm38) C372F probably damaging Het
Tbck A G 3: 132,722,291 (GRCm38) probably benign Het
Thoc1 C T 18: 9,963,267 (GRCm38) T127I probably benign Het
Togaram2 G T 17: 71,716,444 (GRCm38) R765L probably damaging Het
Tprg1 A G 16: 25,317,469 (GRCm38) Y70C probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm38) P46S probably benign Het
Umodl1 T C 17: 30,996,351 (GRCm38) Y1050H probably damaging Het
Vmn1r205 T A 13: 22,592,416 (GRCm38) D172V probably benign Het
Vmn1r79 A T 7: 12,177,063 (GRCm38) N291Y probably damaging Het
Vmn2r112 T A 17: 22,614,999 (GRCm38) N549K probably damaging Het
Vrk3 T A 7: 44,764,803 (GRCm38) L241Q probably damaging Het
Zc3h7a A G 16: 11,151,880 (GRCm38) S386P probably damaging 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
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
R1463:Dnajc13 UTSW 9 104,178,940 (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'- GAACCACCCTGAATGACAGTGTCC -3'
(R):5'- TGCTATTTACGGCTTAACACCCTGC -3'

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