Incidental Mutation 'R5982:Dnajc13'
ID 481464
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 044163-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R5982 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 104028481-104140129 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 104061814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 1380 (T1380K)
Ref Sequence ENSEMBL: ENSMUSP00000139804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035170] [ENSMUST00000186788]
AlphaFold D4AFX7
Predicted Effect possibly damaging
Transcript: ENSMUST00000035170
AA Change: T1375K

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000035170
Gene: ENSMUSG00000032560
AA Change: T1375K

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: ENSMUST00000185503
Predicted Effect possibly damaging
Transcript: ENSMUST00000186788
AA Change: T1380K

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139804
Gene: ENSMUSG00000032560
AA Change: T1380K

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: ENSMUST00000191199
Meta Mutation Damage Score 0.1715 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 98% (81/83)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,844,423 (GRCm39) E931D possibly damaging Het
Aebp1 C T 11: 5,817,911 (GRCm39) T62I possibly damaging Het
Babam2 A T 5: 31,977,964 (GRCm39) E139V possibly damaging Het
Bclaf1 C T 10: 20,198,809 (GRCm39) R67* probably null Het
Bcr C A 10: 75,012,248 (GRCm39) T51K probably benign Het
Best3 T A 10: 116,840,322 (GRCm39) C251S probably damaging Het
Birc6 A G 17: 74,955,153 (GRCm39) M3457V probably benign Het
C87436 C A 6: 86,422,957 (GRCm39) T177K possibly damaging Het
Cabin1 T A 10: 75,561,394 (GRCm39) T1036S probably benign Het
Catsperg2 C A 7: 29,412,442 (GRCm39) V383L possibly damaging Het
Ccdc182 C T 11: 88,185,165 (GRCm39) Q82* probably null Het
Ccl9 T C 11: 83,466,700 (GRCm39) T76A probably damaging Het
Cdc16 G T 8: 13,831,399 (GRCm39) C544F possibly damaging Het
Cdh18 A C 15: 23,474,302 (GRCm39) D724A possibly damaging Het
Cdip1 G A 16: 4,587,946 (GRCm39) P6S probably damaging Het
Col12a1 A G 9: 79,537,842 (GRCm39) V2542A probably damaging Het
Dsg4 T A 18: 20,598,226 (GRCm39) S715T possibly damaging Het
Dync2h1 G T 9: 6,955,986 (GRCm39) T4132K probably benign Het
Egfem1 A T 3: 29,711,419 (GRCm39) probably null Het
Etl4 G T 2: 20,785,826 (GRCm39) V716L probably damaging Het
Exoc3l2 A G 7: 19,213,957 (GRCm39) E461G unknown Het
Fam135b A G 15: 71,320,518 (GRCm39) probably null Het
Flrt3 G T 2: 140,502,836 (GRCm39) P264Q possibly damaging Het
Fmn2 G C 1: 174,330,019 (GRCm39) E136D unknown Het
Fosl2 A G 5: 32,304,217 (GRCm39) I51V probably benign Het
Foxm1 A G 6: 128,347,998 (GRCm39) T307A probably damaging Het
Garem1 T C 18: 21,281,408 (GRCm39) D316G possibly damaging Het
Gm14403 A T 2: 177,200,345 (GRCm39) H97L probably damaging Het
Gm5616 A G 9: 48,361,890 (GRCm39) noncoding transcript Het
Hkdc1 T C 10: 62,229,589 (GRCm39) D696G probably benign Het
Igkv1-88 C A 6: 68,839,432 (GRCm39) W60L probably damaging Het
Iqgap3 G A 3: 87,998,899 (GRCm39) W333* probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnk3 G T 5: 30,780,014 (GRCm39) V355L probably benign Het
Kmt5c A C 7: 4,749,790 (GRCm39) K436T probably damaging Het
Lynx1 T C 15: 74,623,264 (GRCm39) Y56C possibly damaging Het
Lypd5 T C 7: 24,052,462 (GRCm39) S149P probably damaging Het
Map3k21 A T 8: 126,638,169 (GRCm39) N252Y probably damaging Het
Mgat2 T C 12: 69,232,454 (GRCm39) W343R probably damaging Het
Misp T G 10: 79,663,728 (GRCm39) Y567* probably null Het
Mrgprb1 A T 7: 48,097,568 (GRCm39) S115T probably benign Het
Muc16 A C 9: 18,558,442 (GRCm39) I2617R unknown Het
Myo19 T A 11: 84,790,226 (GRCm39) V394E probably damaging Het
Myo9b T A 8: 71,801,040 (GRCm39) L1065Q probably benign Het
Nap1l1 A G 10: 111,331,229 (GRCm39) D405G possibly damaging Het
Napb A T 2: 148,542,411 (GRCm39) probably null Het
Nbas A G 12: 13,443,431 (GRCm39) Y1162C probably benign Het
Nfam1 A T 15: 82,917,325 (GRCm39) L36Q probably damaging Het
Nrros T C 16: 31,963,411 (GRCm39) D202G probably damaging Het
Or51k1 T G 7: 103,661,117 (GRCm39) H264P probably damaging Het
Or7a39 T G 10: 78,715,787 (GRCm39) Y260* probably null Het
Osgin2 T C 4: 15,998,908 (GRCm39) E238G probably benign Het
Papss2 A G 19: 32,616,636 (GRCm39) T221A probably benign Het
Pcdhga12 A C 18: 37,901,084 (GRCm39) K639Q probably damaging Het
Pkhd1l1 T A 15: 44,352,900 (GRCm39) probably null Het
Pmepa1 A G 2: 173,076,105 (GRCm39) S83P possibly damaging Het
Pnp G A 14: 51,188,000 (GRCm39) V118M probably damaging Het
Ppat T C 5: 77,063,112 (GRCm39) T500A probably benign Het
Pramel22 C A 4: 143,381,034 (GRCm39) V330F probably damaging Het
Rab11fip4 A G 11: 79,581,601 (GRCm39) N532S probably benign Het
Rbm25 A G 12: 83,718,725 (GRCm39) D499G probably damaging Het
Rnf139 A G 15: 58,770,687 (GRCm39) I237M possibly damaging Het
Rrp15 C T 1: 186,471,952 (GRCm39) S85N possibly damaging Het
Sidt1 T C 16: 44,082,071 (GRCm39) Y568C probably damaging Het
Slirp A G 12: 87,490,784 (GRCm39) T29A probably damaging Het
Sltm G C 9: 70,494,086 (GRCm39) E828Q probably damaging Het
Spindoc A G 19: 7,351,960 (GRCm39) I129T probably damaging Het
Spire1 T A 18: 67,630,386 (GRCm39) probably null Het
Styx A G 14: 45,605,909 (GRCm39) T138A probably benign Het
Sv2c A T 13: 96,112,571 (GRCm39) L642* probably null Het
Taf7 T C 18: 37,776,498 (GRCm39) E23G probably damaging Het
Tcp10a A T 17: 7,612,425 (GRCm39) T406S possibly damaging Het
Tnrc6b T A 15: 80,765,017 (GRCm39) S840T probably benign Het
Tns3 A G 11: 8,442,245 (GRCm39) I706T probably damaging Het
Tpsab1 A G 17: 25,564,346 (GRCm39) V36A probably benign Het
Trafd1 T A 5: 121,511,342 (GRCm39) D492V probably damaging Het
Trp53 A G 11: 69,478,244 (GRCm39) E51G probably benign Het
Vdr C T 15: 97,755,477 (GRCm39) A349T probably benign Het
Vmn2r59 T C 7: 41,695,491 (GRCm39) D307G probably benign Het
Zfp365 C A 10: 67,733,437 (GRCm39) V252F probably damaging Het
Zfp830 T A 11: 82,655,803 (GRCm39) N202K probably benign 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
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'- GAAAACAACTGCTTTCCTGATCC -3'
(R):5'- ACCAGCTAGATGGCAATGGG -3'

Sequencing Primer
(F):5'- AACTGCTTTCCTGATCCCAAAC -3'
(R):5'- CTAGATGGCAATGGGAATGAATTC -3'
Posted On 2017-06-26