Incidental Mutation 'R7652:Dnajc6'
ID 590899
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 045729-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R7652 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 101353828-101499996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101463874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 209 (Q209L)
Ref Sequence ENSEMBL: ENSMUSP00000102546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038207] [ENSMUST00000094953] [ENSMUST00000106929] [ENSMUST00000106930] [ENSMUST00000106933] [ENSMUST00000149047] [ENSMUST00000154120]
AlphaFold Q80TZ3
Predicted Effect probably damaging
Transcript: ENSMUST00000038207
AA Change: Q179L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: Q179L

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: Q141L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000092560
Gene: ENSMUSG00000028528
AA Change: Q141L

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: Q141L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528
AA Change: Q141L

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: Q141L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528
AA Change: Q141L

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: ENSMUST00000106933
AA Change: Q209L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
AA Change: Q209L

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 damaging
Transcript: ENSMUST00000149047
AA Change: Q141L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119542
Gene: ENSMUSG00000028528
AA Change: Q141L

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (66/66)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A G 4: 156,253,675 (GRCm39) probably null Het
Alb G C 5: 90,615,214 (GRCm39) R242P probably damaging Het
Anxa2r2 A T 13: 120,488,529 (GRCm39) S7T possibly damaging Het
Aph1b T C 9: 66,691,823 (GRCm39) T195A probably benign Het
Apoe G T 7: 19,430,535 (GRCm39) R236S possibly damaging Het
Arap3 G T 18: 38,111,505 (GRCm39) T1137K probably damaging Het
Arhgap45 C T 10: 79,864,672 (GRCm39) A908V probably benign Het
Atp13a1 T C 8: 70,258,209 (GRCm39) C965R probably damaging Het
C7 A G 15: 5,041,587 (GRCm39) Y440H probably damaging Het
Cacna2d2 T C 9: 107,401,397 (GRCm39) probably null Het
Ddah2 C A 17: 35,280,026 (GRCm39) R173S possibly damaging Het
Dnajc11 T C 4: 152,058,682 (GRCm39) Y337H probably damaging Het
Dnajc25 A G 4: 59,020,483 (GRCm39) K302R probably benign Het
Drosha G A 15: 12,859,522 (GRCm39) V577I probably benign Het
Ebf2 G T 14: 67,628,016 (GRCm39) probably null Het
Epx A G 11: 87,766,160 (GRCm39) probably null Het
Eqtn T C 4: 94,816,574 (GRCm39) Y73C probably damaging Het
Fam107b A G 2: 3,773,884 (GRCm39) N21S probably benign Het
Fasn G A 11: 120,707,154 (GRCm39) S857F probably damaging Het
Fat1 A G 8: 45,406,336 (GRCm39) N1029S probably damaging Het
Gas8 A G 8: 124,253,275 (GRCm39) I208V probably benign Het
Gm3269 T C 14: 16,026,209 (GRCm39) I88T probably benign Het
Gm8005 C A 14: 42,258,919 (GRCm39) L136F Het
Grid2ip C A 5: 143,368,393 (GRCm39) P743Q probably damaging Het
H2-T15 A T 17: 36,367,675 (GRCm39) V221D probably damaging Het
Hbs1l C T 10: 21,240,659 (GRCm39) T626I probably benign Het
Hdac3 T A 18: 38,087,972 (GRCm39) probably benign Het
Hnrnpab T C 11: 51,496,400 (GRCm39) Y94C probably damaging Het
Homer2 T C 7: 81,299,414 (GRCm39) D17G probably damaging Het
Ikbke C T 1: 131,199,569 (GRCm39) R308Q probably damaging Het
Ints10 A G 8: 69,277,771 (GRCm39) T682A possibly damaging Het
Klhl3 G A 13: 58,261,146 (GRCm39) probably benign Het
Klk1b9 A T 7: 43,445,514 (GRCm39) T235S probably benign Het
Kmt2c T C 5: 25,520,717 (GRCm39) T1798A probably benign Het
Kri1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTC 9: 21,192,352 (GRCm39) probably benign Het
Krtap4-6 T C 11: 99,556,440 (GRCm39) I96V unknown Het
Lef1 A C 3: 130,994,003 (GRCm39) R354S probably damaging Het
Lrp6 A T 6: 134,488,208 (GRCm39) L296* probably null Het
Maml2 T C 9: 13,532,945 (GRCm39) Y720H Het
Mmrn1 A G 6: 60,954,490 (GRCm39) N924D probably benign Het
Myh7b A G 2: 155,474,156 (GRCm39) K1624E probably damaging Het
Nos3 T A 5: 24,588,610 (GRCm39) V1112D probably damaging Het
Or2y14 T C 11: 49,404,512 (GRCm39) F16L probably damaging Het
Or4c111 C T 2: 88,843,893 (GRCm39) V172I probably benign Het
Or5an1b C A 19: 12,299,651 (GRCm39) C180F probably damaging Het
Or5w13 A G 2: 87,523,704 (GRCm39) I174T probably damaging Het
Or6c70 A T 10: 129,710,346 (GRCm39) N93K probably damaging Het
Phospho1 T C 11: 95,721,645 (GRCm39) L105S probably damaging Het
Prss35 T A 9: 86,638,023 (GRCm39) N264K probably benign Het
Ptpn13 A G 5: 103,677,578 (GRCm39) D732G probably benign Het
Rab18 A T 18: 6,783,123 (GRCm39) T64S possibly damaging Het
Rft1 A G 14: 30,399,773 (GRCm39) Q319R probably benign Het
Rgs7 T A 1: 174,921,396 (GRCm39) M220L probably benign Het
Rnf13 A G 3: 57,671,772 (GRCm39) N28S probably benign Het
Setd3 A T 12: 108,078,548 (GRCm39) I311N probably damaging Het
Setd5 G A 6: 113,098,725 (GRCm39) R786H probably damaging Het
Slc26a6 T C 9: 108,733,143 (GRCm39) probably null Het
Slc26a9 A T 1: 131,691,634 (GRCm39) T626S probably benign Het
Stambp A T 6: 83,540,910 (GRCm39) probably null Het
Stom A T 2: 35,206,041 (GRCm39) N229K probably benign Het
Tlr1 A T 5: 65,084,130 (GRCm39) L149* probably null Het
Trpc3 C A 3: 36,692,677 (GRCm39) V772F probably benign Het
Ube3a A G 7: 58,893,102 (GRCm39) probably benign Het
Ugt2b35 T A 5: 87,149,369 (GRCm39) F207I probably damaging Het
Usp53 A T 3: 122,746,884 (GRCm39) D360E possibly damaging Het
Vmn2r96 T G 17: 18,793,832 (GRCm39) S59A probably benign Het
Wdr70 A G 15: 8,108,700 (GRCm39) C149R probably benign Het
Wnt3 A G 11: 103,703,290 (GRCm39) T258A possibly damaging Het
Zfp729b T C 13: 67,739,371 (GRCm39) T965A probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null 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
R5373:Dnajc6 UTSW 4 101,472,824 (GRCm39) missense probably damaging 0.99
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
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'- CGGAGAGACGACAGGATACC -3'
(R):5'- TCTTTAGGGGATTAGGGAGGGAA -3'

Sequencing Primer
(F):5'- GAGAGACGACAGGATACCACTTC -3'
(R):5'- GGATTAGGGAGGGAAAGGCC -3'
Posted On 2019-10-24