Incidental Mutation 'R2032:Dnajc6'
ID 221333
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 040039-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R2032 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 101353828-101499996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 101471435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 284 (I284S)
Ref Sequence ENSEMBL: ENSMUSP00000102543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038207] [ENSMUST00000094953] [ENSMUST00000106929] [ENSMUST00000106930] [ENSMUST00000106933] [ENSMUST00000149047]
AlphaFold Q80TZ3
Predicted Effect probably benign
Transcript: ENSMUST00000038207
AA Change: I322S

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: I322S

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: ENSMUST00000094953
AA Change: I284S

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000092560
Gene: ENSMUSG00000028528
AA Change: I284S

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: ENSMUST00000106929
AA Change: I284S

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528
AA Change: I284S

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
AA Change: I284S

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528
AA Change: I284S

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: I352S

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
AA Change: I352S

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (54/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,585,056 (GRCm39) probably benign Het
Abca7 C T 10: 79,844,071 (GRCm39) T1359M probably damaging Het
Acox2 A G 14: 8,246,400 (GRCm38) S464P probably benign Het
Adgrf1 C T 17: 43,622,166 (GRCm39) T801I probably damaging Het
Akap11 T A 14: 78,747,477 (GRCm39) I1637L possibly damaging Het
Akap12 C A 10: 4,306,673 (GRCm39) A1161D possibly damaging Het
Ankrd36 T A 11: 5,578,616 (GRCm39) V635D possibly damaging Het
Ankrd44 C T 1: 54,762,168 (GRCm39) probably null Het
Atl2 A G 17: 80,203,373 (GRCm39) V28A probably benign Het
Atxn3 A T 12: 101,908,453 (GRCm39) L133* probably null Het
Bmp2 T C 2: 133,403,216 (GRCm39) S256P probably benign Het
Ccdc121rt3 G A 5: 112,502,978 (GRCm39) T242I possibly damaging Het
Ccdc138 T A 10: 58,348,984 (GRCm39) Y177N possibly damaging Het
Ccdc168 C A 1: 44,100,900 (GRCm39) C66F possibly damaging Het
Cdcp3 G A 7: 130,844,781 (GRCm39) G674E probably damaging Het
Cep164 C T 9: 45,682,898 (GRCm39) V931M probably damaging Het
Cfhr4 T A 1: 139,660,993 (GRCm39) probably benign Het
CK137956 T C 4: 127,839,069 (GRCm39) T450A probably benign Het
Col23a1 G A 11: 51,450,835 (GRCm39) G215D unknown Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dennd6a T C 14: 26,325,904 (GRCm39) M5T probably benign Het
Dolpp1 C T 2: 30,282,453 (GRCm39) A2V probably damaging Het
Eml2 C T 7: 18,936,480 (GRCm39) T711I probably benign Het
Evi5l T C 8: 4,260,622 (GRCm39) D1065G probably damaging Het
Fam110b G T 4: 5,799,460 (GRCm39) A293S probably benign Het
Fap A G 2: 62,372,581 (GRCm39) V266A probably benign Het
Fgf10 A T 13: 118,852,131 (GRCm39) Y71F probably damaging Het
Gm3443 G T 19: 21,533,164 (GRCm39) G43C probably damaging Het
Gpr146 T C 5: 139,364,902 (GRCm39) probably benign Het
Hif3a A T 7: 16,785,104 (GRCm39) L172H probably damaging Het
Mas1 T C 17: 13,061,457 (GRCm39) probably benign Het
Nlrp5 G A 7: 23,120,937 (GRCm39) R717Q probably damaging Het
Nop14 A G 5: 34,817,283 (GRCm39) V36A possibly damaging Het
Or10v5 C T 19: 11,805,664 (GRCm39) C242Y probably damaging Het
Or51a39 A T 7: 102,363,083 (GRCm39) I179N probably benign Het
Or7a41 T A 10: 78,871,163 (GRCm39) F178I possibly damaging Het
Parp4 T A 14: 56,866,553 (GRCm39) I1039K possibly damaging Het
Pate12 T C 9: 36,344,195 (GRCm39) probably null Het
Pold2 A T 11: 5,826,757 (GRCm39) I59N probably benign Het
Prr36 T C 8: 4,264,304 (GRCm39) probably benign Het
Pyroxd2 T C 19: 42,716,088 (GRCm39) probably benign Het
Recql C T 6: 142,313,009 (GRCm39) G403R probably damaging Het
Serpina3m T A 12: 104,355,928 (GRCm39) D198E probably benign Het
Sik2 A T 9: 50,906,947 (GRCm39) Y93N probably damaging Het
Slc27a3 C T 3: 90,294,704 (GRCm39) R389H probably damaging Het
Slc29a1 A T 17: 45,897,035 (GRCm39) M417K probably damaging Het
Syt13 A G 2: 92,783,746 (GRCm39) K339E probably damaging Het
Tmem237 A T 1: 59,148,265 (GRCm39) H163Q probably benign Het
Tram2 C T 1: 21,074,180 (GRCm39) G253R probably null Het
Trpv1 A G 11: 73,129,211 (GRCm39) T43A probably benign Het
Ugt2b34 A G 5: 87,039,131 (GRCm39) I510T probably damaging Het
Vmn1r224 C A 17: 20,639,658 (GRCm39) D78E probably benign Het
Vmn1r78 A T 7: 11,887,210 (GRCm39) I274L probably benign Het
Wdfy4 C T 14: 32,868,946 (GRCm39) V361I probably benign Het
Zpbp2 A T 11: 98,445,534 (GRCm39) K165N probably 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
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'- GTCCATACCGGCATCATTCC -3'
(R):5'- TGGACATCAACAAGCCATCAGG -3'

Sequencing Primer
(F):5'- AGGAAGGAGCTTCTATGTCTAAGTC -3'
(R):5'- AGGCTCTTTCTCACTCCAAAC -3'
Posted On 2014-08-25