Incidental Mutation 'IGL00162:Dnajc6'
ID1719
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc6
Ensembl Gene ENSMUSG00000028528
Gene NameDnaJ heat shock protein family (Hsp40) member C6
Synonymsauxilin, 2810027M23Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.153) question?
Stock #IGL00162
Quality Score
Status
Chromosome4
Chromosomal Location101496648-101642799 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 101508089 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038207] [ENSMUST00000106929] [ENSMUST00000106930] [ENSMUST00000149047] [ENSMUST00000154120]
Predicted Effect unknown
Transcript: ENSMUST00000038207
AA Change: T2A
SMART Domains Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: T2A

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 benign
Transcript: ENSMUST00000106929
SMART Domains Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528

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: ENSMUST00000106930
SMART Domains Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528

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 noncoding transcript
Transcript: ENSMUST00000146489
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
Predicted Effect probably benign
Transcript: ENSMUST00000154120
SMART Domains Protein: ENSMUSP00000114840
Gene: ENSMUSG00000028528

DomainStartEndE-ValueType
PDB:3N0A|A 30 116 4e-54 PDB
SCOP:d1d5ra2 50 101 1e-4 SMART
Coding Region Coverage
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C330021F23Rik A G 8: 3,583,904 T2A probably benign Het
Cc2d1b T G 4: 108,627,378 L470R probably damaging Het
Cd96 A T 16: 46,071,799 N275K possibly damaging Het
Col22a1 A G 15: 71,860,958 probably null Het
Cyb561 T C 11: 105,935,836 H197R probably damaging Het
Dlgap1 T C 17: 70,516,085 S22P probably benign Het
Fgf6 A T 6: 127,024,085 K185N possibly damaging Het
Fshr T C 17: 88,986,191 N353S probably damaging Het
Gabbr1 T A 17: 37,048,443 Y103* probably null Het
Gm7247 G A 14: 51,523,505 C177Y possibly damaging Het
Hikeshi A G 7: 89,935,781 F72L probably damaging Het
Ikzf4 T C 10: 128,634,547 E368G probably benign Het
Kdm3b A G 18: 34,809,409 E851G probably benign Het
Kif3b A G 2: 153,317,131 D284G probably damaging Het
Kyat3 G A 3: 142,734,474 A320T probably benign Het
Mok C T 12: 110,808,197 probably benign Het
Mrgpra3 A G 7: 47,589,519 F220L probably benign Het
Nr4a1 T C 15: 101,270,899 V272A probably damaging Het
Olfr1124 A G 2: 87,435,063 H192R probably benign Het
Olfr703 A G 7: 106,845,367 Y252C possibly damaging Het
Pikfyve T A 1: 65,260,121 probably null Het
Plekhn1 T G 4: 156,223,363 T369P probably damaging Het
Ptpn12 T C 5: 21,029,850 E45G probably damaging Het
Ralgps1 A T 2: 33,137,682 *516R probably null Het
Senp6 A G 9: 80,116,610 D385G probably damaging Het
Siglech T C 7: 55,772,591 probably benign Het
Slit1 A G 19: 41,650,835 L212P probably damaging Het
Smchd1 T A 17: 71,465,673 probably benign Het
Snapc4 A T 2: 26,369,312 C609S probably benign Het
Strn3 T C 12: 51,661,196 T139A possibly damaging Het
Tcaf3 T C 6: 42,593,385 T478A probably benign Het
Tlr3 A G 8: 45,400,690 S198P probably damaging Het
Ttn C T 2: 76,890,479 probably benign Het
Vil1 G A 1: 74,423,875 E406K probably damaging Het
Zfp462 A G 4: 55,011,483 probably null Het
Zfyve9 A G 4: 108,642,107 V1338A possibly damaging Het
Other mutations in Dnajc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02336:Dnajc6 APN 4 101614286 unclassified probably null
IGL02551:Dnajc6 APN 4 101639353 missense probably damaging 1.00
IGL02801:Dnajc6 APN 4 101597813 missense probably benign 0.33
IGL02887:Dnajc6 APN 4 101639300 missense probably damaging 1.00
IGL03107:Dnajc6 APN 4 101616860 missense probably damaging 1.00
IGL03271:Dnajc6 APN 4 101508077 intron probably benign
R0091:Dnajc6 UTSW 4 101616777 splice site probably benign
R0384:Dnajc6 UTSW 4 101598956 missense probably damaging 1.00
R0546:Dnajc6 UTSW 4 101635191 missense probably damaging 0.99
R0689:Dnajc6 UTSW 4 101611253 missense possibly damaging 0.91
R1239:Dnajc6 UTSW 4 101635116 missense probably damaging 0.98
R1421:Dnajc6 UTSW 4 101611316 missense probably damaging 0.97
R1424:Dnajc6 UTSW 4 101639347 missense possibly damaging 0.92
R1563:Dnajc6 UTSW 4 101599137 missense probably damaging 1.00
R1608:Dnajc6 UTSW 4 101599167 missense probably damaging 1.00
R1757:Dnajc6 UTSW 4 101597831 missense probably damaging 1.00
R1856:Dnajc6 UTSW 4 101598988 missense probably damaging 1.00
R2032:Dnajc6 UTSW 4 101614238 missense probably benign 0.39
R2518:Dnajc6 UTSW 4 101612930 missense probably damaging 0.99
R4028:Dnajc6 UTSW 4 101616857 missense probably damaging 1.00
R4088:Dnajc6 UTSW 4 101639396 missense probably damaging 1.00
R4601:Dnajc6 UTSW 4 101611264 missense probably damaging 1.00
R4602:Dnajc6 UTSW 4 101611264 missense probably damaging 1.00
R4610:Dnajc6 UTSW 4 101611264 missense probably damaging 1.00
R4755:Dnajc6 UTSW 4 101550799 missense probably damaging 1.00
R4878:Dnajc6 UTSW 4 101599034 intron probably benign
R4938:Dnajc6 UTSW 4 101636813 missense probably damaging 1.00
R5373:Dnajc6 UTSW 4 101615627 missense probably damaging 0.99
R5391:Dnajc6 UTSW 4 101628158 critical splice donor site probably null
R5435:Dnajc6 UTSW 4 101606610 missense probably damaging 0.99
R5760:Dnajc6 UTSW 4 101618642 missense probably benign 0.39
R6044:Dnajc6 UTSW 4 101616577 missense probably benign 0.22
R6086:Dnajc6 UTSW 4 101597807 missense probably benign 0.45
R6460:Dnajc6 UTSW 4 101615598 missense probably damaging 1.00
R6495:Dnajc6 UTSW 4 101635065 nonsense probably null
R6956:Dnajc6 UTSW 4 101614273 missense probably damaging 0.97
R7072:Dnajc6 UTSW 4 101615615 missense not run
Z1088:Dnajc6 UTSW 4 101639329 missense probably damaging 1.00
Posted On2011-07-12