Incidental Mutation 'R0384:Dnajc6'
ID 31154
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 038590-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R0384 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 101353828-101499996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101456153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 47 (T47I)
Ref Sequence ENSEMBL: ENSMUSP00000102543 (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: T85I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: T85I

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: T47I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092560
Gene: ENSMUSG00000028528
AA Change: T47I

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: T47I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528
AA Change: T47I

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: T47I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528
AA Change: T47I

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: T115I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
AA Change: T115I

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 noncoding transcript
Transcript: ENSMUST00000146489
Predicted Effect possibly damaging
Transcript: ENSMUST00000149047
AA Change: T47I

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119542
Gene: ENSMUSG00000028528
AA Change: T47I

DomainStartEndE-ValueType
PDB:3N0A|A 30 194 1e-118 PDB
SCOP:d1d5ra2 50 187 2e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000154120
AA Change: T47I

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114840
Gene: ENSMUSG00000028528
AA Change: T47I

DomainStartEndE-ValueType
PDB:3N0A|A 30 116 4e-54 PDB
SCOP:d1d5ra2 50 101 1e-4 SMART
Meta Mutation Damage Score 0.1186 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.7%
Validation Efficiency 100% (72/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 T A 7: 139,566,725 (GRCm39) probably benign Het
Akr1b8 T C 6: 34,341,265 (GRCm39) probably benign Het
Arhgef39 A G 4: 43,498,613 (GRCm39) L117P probably damaging Het
Atp13a1 A T 8: 70,249,974 (GRCm39) Q356L possibly damaging Het
Bmp2k T A 5: 97,178,984 (GRCm39) probably benign Het
Ccdc141 A G 2: 76,857,992 (GRCm39) V1063A probably damaging Het
Col20a1 T C 2: 180,640,955 (GRCm39) Y568H probably benign Het
Crabp2 T C 3: 87,860,328 (GRCm39) V134A possibly damaging Het
Cyp19a1 T C 9: 54,080,025 (GRCm39) K265E probably benign Het
Cyp2j9 T C 4: 96,474,122 (GRCm39) H106R probably benign Het
Dcps T C 9: 35,087,239 (GRCm39) K9R probably damaging Het
Dnhd1 T G 7: 105,369,321 (GRCm39) S4315A possibly damaging Het
Dnmt3l A T 10: 77,888,571 (GRCm39) I158F possibly damaging Het
Dock3 A G 9: 106,779,094 (GRCm39) probably benign Het
Eefsec A G 6: 88,258,632 (GRCm39) probably null Het
Fam204a T C 19: 60,209,728 (GRCm39) M1V probably null Het
Fam98b T C 2: 117,098,328 (GRCm39) V266A possibly damaging Het
Fat2 A T 11: 55,160,291 (GRCm39) I3274N possibly damaging Het
Fbh1 A G 2: 11,754,389 (GRCm39) I198T probably damaging Het
Fer T C 17: 64,231,179 (GRCm39) probably benign Het
Fhad1 T A 4: 141,729,737 (GRCm39) M89L probably benign Het
Fjx1 C A 2: 102,281,452 (GRCm39) C161F probably damaging Het
Fkbp7 T A 2: 76,496,168 (GRCm39) probably benign Het
Gm42669 T A 5: 107,656,664 (GRCm39) C976S probably benign Het
Gm4845 T C 1: 141,184,823 (GRCm39) noncoding transcript Het
Herc1 T A 9: 66,388,332 (GRCm39) probably benign Het
Hook3 C T 8: 26,534,263 (GRCm39) probably null Het
Idh2 C T 7: 79,748,005 (GRCm39) A232T probably damaging Het
Itga2b A T 11: 102,356,188 (GRCm39) probably null Het
Klk1b21 T C 7: 43,754,917 (GRCm39) Y71H probably benign Het
Kndc1 A T 7: 139,490,515 (GRCm39) N339I possibly damaging Het
Ky C T 9: 102,419,289 (GRCm39) T432I probably benign Het
Map4 C T 9: 109,863,696 (GRCm39) T307I probably damaging Het
Matn1 T C 4: 130,671,787 (GRCm39) L18P probably benign Het
Mindy4 G A 6: 55,193,669 (GRCm39) D121N probably damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Msto1 G A 3: 88,817,646 (GRCm39) Q441* probably null Het
Muc5ac A G 7: 141,365,988 (GRCm39) H2048R possibly damaging Het
Musk T C 4: 58,373,711 (GRCm39) *879Q probably null Het
Nat8f2 T C 6: 85,845,350 (GRCm39) Y4C possibly damaging Het
Ncaph2 T A 15: 89,253,594 (GRCm39) I282N probably benign Het
Nid1 A G 13: 13,638,421 (GRCm39) T114A probably benign Het
Npr1 C A 3: 90,372,474 (GRCm39) G113C probably damaging Het
Nrxn1 G A 17: 90,515,775 (GRCm39) P193S probably damaging Het
Nwd2 T C 5: 63,963,025 (GRCm39) F870L probably benign Het
Or10h1b A G 17: 33,395,522 (GRCm39) I45V probably damaging Het
Or4c122 A G 2: 89,079,414 (GRCm39) I208T possibly damaging Het
Or6c5c T A 10: 129,298,909 (GRCm39) Y121* probably null Het
Or8k30 T A 2: 86,339,727 (GRCm39) I308K possibly damaging Het
Phf14 A G 6: 11,997,019 (GRCm39) probably benign Het
Pnpla5 G T 15: 84,004,920 (GRCm39) L144M probably damaging Het
Prdm2 T C 4: 142,862,258 (GRCm39) E344G probably benign Het
Psmd12 T C 11: 107,376,547 (GRCm39) V61A probably benign Het
Relt T C 7: 100,496,712 (GRCm39) D385G probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Scg2 T A 1: 79,413,266 (GRCm39) I446F probably benign Het
Sema3b G A 9: 107,478,165 (GRCm39) L407F probably damaging Het
Slc25a13 A T 6: 6,042,600 (GRCm39) Y601* probably null Het
Sun5 C T 2: 153,700,885 (GRCm39) V270I probably benign Het
Tex52 A G 6: 128,356,496 (GRCm39) Y63C probably damaging Het
Tmem138 A G 19: 10,552,186 (GRCm39) probably benign Het
Tnpo3 A G 6: 29,582,163 (GRCm39) probably null Het
Tspoap1 A T 11: 87,657,280 (GRCm39) Q364L probably damaging Het
Ttc41 T C 10: 86,599,811 (GRCm39) L1037P probably damaging Het
Ugcg T A 4: 59,220,387 (GRCm39) D393E possibly damaging Het
Vmn1r184 T C 7: 25,967,076 (GRCm39) I274T probably benign Het
Vmn2r27 A G 6: 124,200,871 (GRCm39) V362A probably benign Het
Vmn2r87 T A 10: 130,307,712 (GRCm39) Y842F probably benign Het
Vps8 T A 16: 21,325,575 (GRCm39) probably benign 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
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
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'- ACATGGCAGGCAGTTCTATTCCAAG -3'
(R):5'- AGGACATCACTAGGAGAGGTCACAC -3'

Sequencing Primer
(F):5'- TCCAAGACTGATAGTGCTCG -3'
(R):5'- CACAGACAGAAAGCAGGTTAC -3'
Posted On 2013-04-24