Incidental Mutation 'R5373:Dnajc6'
ID 428854
Institutional Source Beutler Lab
Gene Symbol Dnajc6
Ensembl Gene ENSMUSG00000028528
Gene Name DnaJ heat shock protein family (Hsp40) member C6
Synonyms auxilin, 2810027M23Rik
MMRRC Submission 042949-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R5373 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 101353828-101499996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101472824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 317 (I317T)
Ref Sequence ENSEMBL: ENSMUSP00000102543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038207] [ENSMUST00000094953] [ENSMUST00000106929] [ENSMUST00000106930] [ENSMUST00000106933] [ENSMUST00000149047]
AlphaFold Q80TZ3
Predicted Effect probably damaging
Transcript: ENSMUST00000038207
AA Change: I355T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: I355T

DomainStartEndE-ValueType
SCOP:d1d5ra2 88 244 1e-20 SMART
PTEN_C2 251 390 5.95e-42 SMART
low complexity region 502 521 N/A INTRINSIC
low complexity region 554 569 N/A INTRINSIC
low complexity region 679 694 N/A INTRINSIC
low complexity region 719 735 N/A INTRINSIC
low complexity region 829 840 N/A INTRINSIC
DnaJ 873 934 2e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000094953
AA Change: I317T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092560
Gene: ENSMUSG00000028528
AA Change: I317T

DomainStartEndE-ValueType
SCOP:d1d5ra2 50 206 2e-20 SMART
PTEN_C2 213 352 5.95e-42 SMART
low complexity region 464 483 N/A INTRINSIC
low complexity region 516 531 N/A INTRINSIC
low complexity region 641 656 N/A INTRINSIC
low complexity region 681 697 N/A INTRINSIC
low complexity region 791 802 N/A INTRINSIC
DnaJ 835 896 2e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106929
AA Change: I317T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528
AA Change: I317T

DomainStartEndE-ValueType
SCOP:d1d5ra2 50 206 2e-20 SMART
PTEN_C2 213 352 5.95e-42 SMART
low complexity region 464 483 N/A INTRINSIC
low complexity region 516 531 N/A INTRINSIC
low complexity region 641 656 N/A INTRINSIC
low complexity region 681 697 N/A INTRINSIC
low complexity region 791 802 N/A INTRINSIC
DnaJ 835 896 2e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106930
AA Change: I317T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528
AA Change: I317T

DomainStartEndE-ValueType
SCOP:d1d5ra2 50 206 2e-20 SMART
PTEN_C2 213 352 5.95e-42 SMART
low complexity region 464 483 N/A INTRINSIC
low complexity region 516 531 N/A INTRINSIC
low complexity region 641 656 N/A INTRINSIC
low complexity region 681 697 N/A INTRINSIC
low complexity region 791 802 N/A INTRINSIC
DnaJ 835 896 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106933
AA Change: I385T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
AA Change: I385T

DomainStartEndE-ValueType
low complexity region 30 44 N/A INTRINSIC
SCOP:d1d5ra2 118 274 1e-20 SMART
PTEN_C2 281 420 5.95e-42 SMART
low complexity region 532 551 N/A INTRINSIC
low complexity region 584 599 N/A INTRINSIC
low complexity region 709 724 N/A INTRINSIC
low complexity region 749 765 N/A INTRINSIC
low complexity region 859 870 N/A INTRINSIC
DnaJ 903 964 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149047
SMART Domains Protein: ENSMUSP00000119542
Gene: ENSMUSG00000028528

DomainStartEndE-ValueType
PDB:3N0A|A 30 194 1e-118 PDB
SCOP:d1d5ra2 50 187 2e-17 SMART
Meta Mutation Damage Score 0.3711 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (74/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous and heterozygous for a knock-out allele exhibit postnatal lethality and decreased body weight with homozygotes exhibiting decreased synpatic vesicle recycling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,396 (GRCm39) S862G probably benign Het
Abcb5 G T 12: 118,850,912 (GRCm39) T887K probably damaging Het
Adgrf1 G A 17: 43,601,896 (GRCm39) probably benign Het
Adss2 T G 1: 177,623,954 (GRCm39) I3L probably benign Het
Anapc7 T A 5: 122,576,280 (GRCm39) D302E probably benign Het
Ank3 A G 10: 69,789,306 (GRCm39) probably null Het
Arpp21 T G 9: 111,896,336 (GRCm39) M687L probably benign Het
Camkv T C 9: 107,824,088 (GRCm39) S221P probably benign Het
Ccdc88a C T 11: 29,413,409 (GRCm39) T649M possibly damaging Het
Cdh12 A C 15: 21,583,998 (GRCm39) S613R probably damaging Het
Chsy1 C T 7: 65,759,824 (GRCm39) Q56* probably null Het
Cisd2 A G 3: 135,114,596 (GRCm39) V125A probably benign Het
Cntnap2 T A 6: 47,084,903 (GRCm39) H1121Q probably benign Het
Corin A T 5: 72,462,296 (GRCm39) C876S probably damaging Het
Cplane1 T C 15: 8,300,287 (GRCm39) V3198A unknown Het
Cspp1 T G 1: 10,204,351 (GRCm39) L1038R probably damaging Het
Cwc15 A G 9: 14,416,234 (GRCm39) K147E possibly damaging Het
Dlgap2 A G 8: 14,873,614 (GRCm39) D739G probably benign Het
Dmxl2 A G 9: 54,276,473 (GRCm39) probably benign Het
Dpysl3 T C 18: 43,494,101 (GRCm39) Y193C probably damaging Het
Dtna T C 18: 23,784,670 (GRCm39) Y730H probably damaging Het
Dusp3 A G 11: 101,875,451 (GRCm39) Y38H possibly damaging Het
Eif3m A T 2: 104,843,277 (GRCm39) I151N probably damaging Het
Eml2 A T 7: 18,913,188 (GRCm39) D62V possibly damaging Het
Epb41l3 C A 17: 69,593,795 (GRCm39) H810N probably damaging Het
Evc2 C T 5: 37,535,554 (GRCm39) R410W probably damaging Het
Fam169b T C 7: 67,950,586 (GRCm39) Y13H probably damaging Het
Fcrl5 A G 3: 87,353,698 (GRCm39) T348A probably benign Het
Fezf2 A T 14: 12,344,803 (GRCm38) V128E possibly damaging Het
Ighv3-5 A G 12: 114,226,573 (GRCm39) S18P probably damaging Het
Kcnq5 T A 1: 22,031,795 (GRCm39) H4L unknown Het
Kdm5d C T Y: 927,995 (GRCm39) P756S probably benign Het
Lig1 AG A 7: 13,039,849 (GRCm39) probably null Het
Ly75 A T 2: 60,142,115 (GRCm39) L1332M possibly damaging Het
Med1 T A 11: 98,054,789 (GRCm39) K378N probably damaging Het
Mn1 A G 5: 111,569,752 (GRCm39) probably null Het
Mpo T C 11: 87,694,437 (GRCm39) probably null Het
Mtfr2 G T 10: 20,228,598 (GRCm39) C48F probably benign Het
Nt5c G A 11: 115,381,643 (GRCm39) probably null Het
Pcdhga4 T C 18: 37,818,649 (GRCm39) V66A probably damaging Het
Pik3c3 T C 18: 30,445,614 (GRCm39) S534P probably benign Het
Pla2g4e A T 2: 120,016,876 (GRCm39) C222S probably benign Het
Plch1 A C 3: 63,605,499 (GRCm39) H1468Q probably benign Het
Psd2 T A 18: 36,140,556 (GRCm39) W610R probably damaging Het
Ptgs1 A T 2: 36,141,198 (GRCm39) K548N probably damaging Het
Ptpn14 T C 1: 189,583,160 (GRCm39) M669T probably benign Het
Ptprf G T 4: 118,083,238 (GRCm39) T923K possibly damaging Het
Ptprg A G 14: 12,213,665 (GRCm38) N1011S probably benign Het
Ptprz1 T A 6: 23,007,354 (GRCm39) V1639E probably damaging Het
Rgsl1 C T 1: 153,666,053 (GRCm39) V986I probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rxfp2 A G 5: 149,993,725 (GRCm39) T596A probably benign Het
Serpina3j A G 12: 104,280,986 (GRCm39) D53G probably damaging Het
Slc26a7 A T 4: 14,546,447 (GRCm39) I294N probably damaging Het
Slirp T C 12: 87,496,192 (GRCm39) S96P possibly damaging Het
Snx6 T C 12: 54,817,513 (GRCm39) E128G probably damaging Het
Spata6 T A 4: 111,680,031 (GRCm39) probably null Het
Stap1 A G 5: 86,238,787 (GRCm39) T152A possibly damaging Het
Susd5 G A 9: 113,911,653 (GRCm39) G188R probably damaging Het
Thap2 A T 10: 115,208,744 (GRCm39) Y125* probably null Het
Tnrc18 G A 5: 142,725,911 (GRCm39) R1793C unknown Het
Ugt1a10 T A 1: 87,983,632 (GRCm39) D143E probably damaging Het
Vmn1r85 A T 7: 12,818,255 (GRCm39) Y296* probably null Het
Vmn2r71 C T 7: 85,267,750 (GRCm39) T68I possibly damaging Het
Zc3h6 A T 2: 128,844,076 (GRCm39) I207F possibly damaging Het
Zfp518a T C 19: 40,901,954 (GRCm39) S628P probably benign Het
Zfp85 T C 13: 67,897,577 (GRCm39) Y165C probably damaging Het
Zup1 T C 10: 33,803,462 (GRCm39) N541D possibly damaging Het
Other mutations in Dnajc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Dnajc6 APN 4 101,365,286 (GRCm39) intron probably benign
IGL02336:Dnajc6 APN 4 101,471,483 (GRCm39) splice site probably null
IGL02551:Dnajc6 APN 4 101,496,550 (GRCm39) missense probably damaging 1.00
IGL02801:Dnajc6 APN 4 101,455,010 (GRCm39) missense probably benign 0.33
IGL02887:Dnajc6 APN 4 101,496,497 (GRCm39) missense probably damaging 1.00
IGL03107:Dnajc6 APN 4 101,474,057 (GRCm39) missense probably damaging 1.00
IGL03271:Dnajc6 APN 4 101,365,274 (GRCm39) intron probably benign
R0091:Dnajc6 UTSW 4 101,473,974 (GRCm39) splice site probably benign
R0384:Dnajc6 UTSW 4 101,456,153 (GRCm39) missense probably damaging 1.00
R0546:Dnajc6 UTSW 4 101,492,388 (GRCm39) missense probably damaging 0.99
R0689:Dnajc6 UTSW 4 101,468,450 (GRCm39) missense possibly damaging 0.91
R1239:Dnajc6 UTSW 4 101,492,313 (GRCm39) missense probably damaging 0.98
R1421:Dnajc6 UTSW 4 101,468,513 (GRCm39) missense probably damaging 0.97
R1424:Dnajc6 UTSW 4 101,496,544 (GRCm39) missense possibly damaging 0.92
R1563:Dnajc6 UTSW 4 101,456,334 (GRCm39) missense probably damaging 1.00
R1608:Dnajc6 UTSW 4 101,456,364 (GRCm39) missense probably damaging 1.00
R1757:Dnajc6 UTSW 4 101,455,028 (GRCm39) missense probably damaging 1.00
R1856:Dnajc6 UTSW 4 101,456,185 (GRCm39) missense probably damaging 1.00
R2032:Dnajc6 UTSW 4 101,471,435 (GRCm39) missense probably benign 0.39
R2518:Dnajc6 UTSW 4 101,470,127 (GRCm39) missense probably damaging 0.99
R4028:Dnajc6 UTSW 4 101,474,054 (GRCm39) missense probably damaging 1.00
R4088:Dnajc6 UTSW 4 101,496,593 (GRCm39) missense probably damaging 1.00
R4601:Dnajc6 UTSW 4 101,468,461 (GRCm39) missense probably damaging 1.00
R4602:Dnajc6 UTSW 4 101,468,461 (GRCm39) missense probably damaging 1.00
R4610:Dnajc6 UTSW 4 101,468,461 (GRCm39) missense probably damaging 1.00
R4755:Dnajc6 UTSW 4 101,407,996 (GRCm39) missense probably damaging 1.00
R4878:Dnajc6 UTSW 4 101,456,231 (GRCm39) intron probably benign
R4938:Dnajc6 UTSW 4 101,494,010 (GRCm39) missense probably damaging 1.00
R5391:Dnajc6 UTSW 4 101,485,355 (GRCm39) critical splice donor site probably null
R5435:Dnajc6 UTSW 4 101,463,807 (GRCm39) missense probably damaging 0.99
R5760:Dnajc6 UTSW 4 101,475,839 (GRCm39) missense probably benign 0.39
R6044:Dnajc6 UTSW 4 101,473,774 (GRCm39) missense probably benign 0.22
R6086:Dnajc6 UTSW 4 101,455,004 (GRCm39) missense probably benign 0.45
R6460:Dnajc6 UTSW 4 101,472,795 (GRCm39) missense probably damaging 1.00
R6495:Dnajc6 UTSW 4 101,492,262 (GRCm39) nonsense probably null
R6956:Dnajc6 UTSW 4 101,471,470 (GRCm39) missense probably damaging 0.97
R7072:Dnajc6 UTSW 4 101,472,812 (GRCm39) missense probably damaging 1.00
R7155:Dnajc6 UTSW 4 101,470,142 (GRCm39) missense probably damaging 1.00
R7192:Dnajc6 UTSW 4 101,455,000 (GRCm39) missense probably benign 0.02
R7226:Dnajc6 UTSW 4 101,496,569 (GRCm39) missense probably damaging 1.00
R7298:Dnajc6 UTSW 4 101,463,808 (GRCm39) missense probably benign 0.09
R7612:Dnajc6 UTSW 4 101,455,123 (GRCm39) missense probably benign 0.40
R7622:Dnajc6 UTSW 4 101,497,688 (GRCm39) missense probably damaging 1.00
R7652:Dnajc6 UTSW 4 101,463,874 (GRCm39) missense probably damaging 0.98
R7789:Dnajc6 UTSW 4 101,475,729 (GRCm39) missense possibly damaging 0.82
R8010:Dnajc6 UTSW 4 101,475,611 (GRCm39) missense probably benign 0.01
R8201:Dnajc6 UTSW 4 101,475,960 (GRCm39) missense probably benign 0.08
R8305:Dnajc6 UTSW 4 101,480,984 (GRCm39) missense probably damaging 1.00
R8912:Dnajc6 UTSW 4 101,468,513 (GRCm39) missense probably damaging 1.00
R9012:Dnajc6 UTSW 4 101,470,156 (GRCm39) missense probably damaging 1.00
R9052:Dnajc6 UTSW 4 101,496,617 (GRCm39) missense probably damaging 0.97
R9091:Dnajc6 UTSW 4 101,496,559 (GRCm39) missense possibly damaging 0.80
R9160:Dnajc6 UTSW 4 101,470,258 (GRCm39) unclassified probably benign
R9258:Dnajc6 UTSW 4 101,475,813 (GRCm39) missense probably benign 0.07
R9270:Dnajc6 UTSW 4 101,496,559 (GRCm39) missense possibly damaging 0.80
R9294:Dnajc6 UTSW 4 101,408,054 (GRCm39) critical splice donor site probably null
R9386:Dnajc6 UTSW 4 101,494,098 (GRCm39) critical splice donor site probably null
R9664:Dnajc6 UTSW 4 101,475,821 (GRCm39) missense probably benign 0.04
Z1088:Dnajc6 UTSW 4 101,496,526 (GRCm39) missense probably damaging 1.00
Z1177:Dnajc6 UTSW 4 101,496,625 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- ACTGATGAGTAAGGAAATGTCTTGC -3'
(R):5'- ACCTGCATAGCCTCTCTAAGTG -3'

Sequencing Primer
(F):5'- CTTGCTTTCATGGAGAGAAGC -3'
(R):5'- CATAGCCTCTCTAAGTGATGGAGC -3'
Posted On 2016-09-06