Incidental Mutation 'R6962:Dnajc13'
ID 541830
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 045072-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R6962 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 104028481-104140129 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104058208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1509 (Y1509C)
Ref Sequence ENSEMBL: ENSMUSP00000035170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035170] [ENSMUST00000186788]
AlphaFold D4AFX7
Predicted Effect probably benign
Transcript: ENSMUST00000035170
AA Change: Y1509C

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000035170
Gene: ENSMUSG00000032560
AA Change: Y1509C

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: Y1514C

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000139804
Gene: ENSMUSG00000032560
AA Change: Y1514C

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
Meta Mutation Damage Score 0.3243 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 96% (74/77)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,949,150 (GRCm39) K1016E probably benign Het
Abca3 T C 17: 24,583,700 (GRCm39) F30L probably benign Het
Arhgap17 C T 7: 122,895,655 (GRCm39) G490R probably damaging Het
Arsg T A 11: 109,412,495 (GRCm39) L140H probably damaging Het
Bmp2k T A 5: 97,179,097 (GRCm39) C130* probably null Het
C4b T C 17: 34,951,140 (GRCm39) probably null Het
Cdk5r2 A G 1: 74,894,975 (GRCm39) Y240C probably damaging Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Col27a1 A G 4: 63,237,738 (GRCm39) probably benign Het
Cubn G A 2: 13,352,840 (GRCm39) S1966F probably benign Het
Dpp4 A G 2: 62,203,174 (GRCm39) V265A probably benign Het
Dync2i1 A T 12: 116,175,398 (GRCm39) D926E probably damaging Het
Fbxl8 C A 8: 105,995,338 (GRCm39) N283K possibly damaging Het
Fev T A 1: 74,921,299 (GRCm39) Q122L probably benign Het
Fgd4 T A 16: 16,301,951 (GRCm39) probably null Het
Fnip2 A C 3: 79,396,610 (GRCm39) L439R probably damaging Het
Git1 C A 11: 77,395,469 (GRCm39) Q389K probably benign Het
Gm10509 C G 17: 21,909,833 (GRCm39) I53M possibly damaging Het
Gm5773 A T 3: 93,681,234 (GRCm39) H302L possibly damaging Het
Greb1l G T 18: 10,547,327 (GRCm39) R1515L probably damaging Het
Gsc2 T C 16: 17,732,902 (GRCm39) Y2C possibly damaging Het
H60b A G 10: 22,162,053 (GRCm39) N93D probably benign Het
Hgf G A 5: 16,820,752 (GRCm39) R633Q probably benign Het
Hmgb1 C T 5: 148,985,633 (GRCm39) probably benign Het
Hmmr T C 11: 40,598,242 (GRCm39) T657A probably damaging Het
Htt G T 5: 35,057,115 (GRCm39) probably null Het
Ift80 G A 3: 68,901,878 (GRCm39) probably benign Het
Kcnq5 G T 1: 21,576,017 (GRCm39) T229K probably damaging Het
Kcp C T 6: 29,482,839 (GRCm39) R1410Q probably benign Het
Klhl30 T G 1: 91,285,137 (GRCm39) V331G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrrc37 G A 11: 103,505,126 (GRCm39) P105S possibly damaging Het
Macf1 C T 4: 123,334,515 (GRCm39) R2849Q probably benign Het
Mex3b T G 7: 82,518,473 (GRCm39) S263A probably benign Het
Mrgpre A G 7: 143,334,799 (GRCm39) S235P probably damaging Het
Myh14 A T 7: 44,307,363 (GRCm39) V226D probably benign Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Nudt8 G T 19: 4,051,831 (GRCm39) L147F probably damaging Het
Or2aj5 T A 16: 19,424,672 (GRCm39) I249L probably benign Het
Or52e8 T A 7: 104,624,580 (GRCm39) N208I probably benign Het
Or5w17 A G 2: 87,584,071 (GRCm39) Y89H probably benign Het
Or6z7 A T 7: 6,484,008 (GRCm39) I49N probably benign Het
P4htm C A 9: 108,456,394 (GRCm39) A469S possibly damaging Het
Pld4 A T 12: 112,733,288 (GRCm39) H288L probably benign Het
Pnpla1 T A 17: 29,097,455 (GRCm39) I207N probably damaging Het
Ppcs T G 4: 119,279,375 (GRCm39) N59T probably damaging Het
Ppm1k A T 6: 57,492,645 (GRCm39) C214S probably damaging Het
Psg25 C T 7: 18,263,679 (GRCm39) G48E probably damaging Het
Rassf7 A G 7: 140,797,503 (GRCm39) T239A possibly damaging Het
Rgs3 G T 4: 62,618,952 (GRCm39) probably benign Het
Scaper T C 9: 55,767,055 (GRCm39) T465A probably benign Het
Slc4a7 G T 14: 14,746,021 (GRCm38) G405C probably damaging Het
Smpd3 T C 8: 106,991,851 (GRCm39) D234G probably benign Het
Spata31f1e T C 4: 42,793,323 (GRCm39) T270A probably damaging Het
Ssc4d A G 5: 135,991,775 (GRCm39) probably null Het
Sugct G T 13: 17,032,606 (GRCm39) probably null Het
Taok2 C A 7: 126,466,088 (GRCm39) probably null Het
Tbx20 A G 9: 24,681,036 (GRCm39) V152A probably damaging Het
Tbx4 A G 11: 85,781,085 (GRCm39) E66G probably benign Het
Thbs2 T C 17: 14,902,082 (GRCm39) E382G probably benign Het
Ticrr T G 7: 79,315,645 (GRCm39) S300A possibly damaging Het
Trim46 A G 3: 89,146,303 (GRCm39) L396P probably damaging Het
Trim56 A G 5: 137,141,501 (GRCm39) F672L probably damaging Het
Ttf2 A G 3: 100,858,453 (GRCm39) L712S probably damaging Het
Unc93b1 T G 19: 3,986,303 (GRCm39) D112E possibly damaging Het
Usp17lc T C 7: 103,068,118 (GRCm39) L471P probably benign Het
Vmn2r85 A G 10: 130,261,452 (GRCm39) I295T probably damaging Het
Vmn2r96 T G 17: 18,818,283 (GRCm39) I812S probably damaging Het
Wdr7 G A 18: 63,998,359 (GRCm39) C1102Y possibly damaging Het
Wnt9b G T 11: 103,624,515 (GRCm39) Q92K probably null Het
Zbtb26 A T 2: 37,326,106 (GRCm39) M310K possibly damaging Het
Zdhhc1 T C 8: 106,210,279 (GRCm39) H46R probably damaging Het
Zfp628 G T 7: 4,922,549 (GRCm39) R257L probably benign Het
Zfp747l1 A T 7: 126,983,487 (GRCm39) D538E possibly damaging Het
Zmat4 A G 8: 24,392,181 (GRCm39) T46A probably benign Het
Zmiz2 T A 11: 6,352,455 (GRCm39) W637R 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
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'- TTTGTGTGCCAGGATAGGAAC -3'
(R):5'- ATTAAGCATCGTCTCCCATCTG -3'

Sequencing Primer
(F):5'- GGATAGGAACAAACCCGATCATGTAC -3'
(R):5'- TCCCATCTGTGCTGATGTG -3'
Posted On 2018-11-28