Incidental Mutation 'R8912:Dnajc6'
ID 678676
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 068765-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R8912 (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 G at 101468513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 251 (Y251C)
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: Y221C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: Y221C

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: Y183C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092560
Gene: ENSMUSG00000028528
AA Change: Y183C

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: Y183C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528
AA Change: Y183C

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: Y183C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528
AA Change: Y183C

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: Y251C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
AA Change: Y251C

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: Y183C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119542
Gene: ENSMUSG00000028528
AA Change: Y183C

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
Meta Mutation Damage Score 0.0977 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (68/69)
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
1700069L16Rik C T 5: 113,861,767 (GRCm39) W34* probably null Het
Adck5 T C 15: 76,477,435 (GRCm39) S90P probably damaging Het
Adgra3 C A 5: 50,118,273 (GRCm39) A1092S possibly damaging Het
Arhgap33 A T 7: 30,232,467 (GRCm39) probably benign Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Atp6ap1l T A 13: 91,046,979 (GRCm39) probably null Het
Brd2 A T 17: 34,332,458 (GRCm39) probably benign Het
Cfap46 A T 7: 139,260,097 (GRCm39) probably benign Het
Ciao1 A G 2: 127,088,599 (GRCm39) V108A possibly damaging Het
Clba1 T C 12: 112,779,323 (GRCm39) V320A possibly damaging Het
Dnah3 T A 7: 119,689,869 (GRCm39) H22L probably benign Het
Dsg2 T A 18: 20,715,878 (GRCm39) N273K probably damaging Het
Egf A G 3: 129,531,164 (GRCm39) V137A possibly damaging Het
Ercc6 C T 14: 32,248,211 (GRCm39) P254L probably benign Het
Erh G T 12: 80,684,282 (GRCm39) A65E probably benign Het
Fbln2 A G 6: 91,240,420 (GRCm39) E789G possibly damaging Het
Fbxl13 T G 5: 21,727,184 (GRCm39) D571A probably damaging Het
Fbxw26 T A 9: 109,561,717 (GRCm39) E159V probably damaging Het
Fndc1 T C 17: 8,019,778 (GRCm39) I134V probably null Het
Fsip2 A G 2: 82,810,938 (GRCm39) D2419G probably benign Het
Gm3371 T C 14: 44,641,238 (GRCm39) K109E Het
Gm5414 A G 15: 101,536,620 (GRCm39) S2P possibly damaging Het
Igkv1-110 G T 6: 68,247,950 (GRCm39) D20Y probably damaging Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Ippk A G 13: 49,603,513 (GRCm39) D422G probably damaging Het
Irs2 A T 8: 11,056,655 (GRCm39) D592E probably damaging Het
Klra9 A G 6: 130,159,368 (GRCm39) I215T probably damaging Het
Lrrc8b T A 5: 105,629,424 (GRCm39) L590Q probably damaging Het
Myh10 A G 11: 68,680,929 (GRCm39) probably null Het
Neto1 A G 18: 86,479,173 (GRCm39) D159G probably damaging Het
Nr1d2 T C 14: 18,220,030 (GRCm38) K104E probably damaging Het
Nrcam T C 12: 44,645,366 (GRCm39) V1256A probably damaging Het
Nufip2 T C 11: 77,632,554 (GRCm39) V690A unknown Het
Or13e8 T A 4: 43,697,017 (GRCm39) D52V probably benign Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or5h19 A G 16: 58,856,263 (GRCm39) V279A probably benign Het
Or9m1b C T 2: 87,836,661 (GRCm39) A145T possibly damaging Het
Patj A G 4: 98,385,565 (GRCm39) H444R Het
Pclo T C 5: 14,825,335 (GRCm39) L1356P Het
Pde4dip A G 3: 97,617,633 (GRCm39) S1732P probably damaging Het
Pi4ka A T 16: 17,207,230 (GRCm39) I25N Het
Pira13 A T 7: 3,825,818 (GRCm39) D350E unknown Het
Pou2f3 C A 9: 43,110,336 (GRCm39) V30L probably benign Het
Qrich2 GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG 11: 116,348,367 (GRCm39) probably benign Het
Reck T A 4: 43,938,802 (GRCm39) probably benign Het
Sdha A T 13: 74,475,323 (GRCm39) probably benign Het
Serinc1 A C 10: 57,400,075 (GRCm39) S191A probably benign Het
Sgo2a T C 1: 58,056,560 (GRCm39) S915P probably damaging Het
Sgsh T C 11: 119,243,486 (GRCm39) T79A probably damaging Het
Sik1 A G 17: 32,069,919 (GRCm39) V207A possibly damaging Het
Skap1 A T 11: 96,644,902 (GRCm39) I338F probably damaging Het
Skic3 T A 13: 76,305,361 (GRCm39) probably benign Het
Sowahc G T 10: 59,057,813 (GRCm39) probably benign Het
Spata31d1d T C 13: 59,875,136 (GRCm39) K800E possibly damaging Het
Spin1 T A 13: 51,298,433 (GRCm39) W151R probably damaging Het
Srfbp1 A G 18: 52,623,686 (GRCm39) T438A possibly damaging Het
Srrm2 A G 17: 24,038,575 (GRCm39) T1740A probably benign Het
Tacr1 A T 6: 82,534,014 (GRCm39) S347C probably damaging Het
Taf1b T C 12: 24,566,860 (GRCm39) S185P possibly damaging Het
Tanc2 C T 11: 105,758,153 (GRCm39) T638I probably benign Het
Tdrkh T C 3: 94,336,478 (GRCm39) Y472H probably damaging Het
Trav4-2 C G 14: 53,656,266 (GRCm39) Y89* probably null Het
Trpm1 G T 7: 63,918,628 (GRCm39) R1540L probably benign Het
Ttc21a T C 9: 119,770,367 (GRCm39) probably null Het
Tti1 A G 2: 157,851,188 (GRCm39) V17A probably benign Het
Vamp8 A G 6: 72,365,276 (GRCm39) L44P probably benign Het
Vmn1r63 G T 7: 5,806,131 (GRCm39) S167Y probably damaging Het
Xrn2 T C 2: 146,891,913 (GRCm39) V710A probably benign Het
Zfp518a A C 19: 40,901,870 (GRCm39) K600Q possibly damaging Het
Zfyve28 T C 5: 34,374,655 (GRCm39) D453G 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
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
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
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'- GCAATTCTGAAGTAAAAGGAAACTCGC -3'
(R):5'- GGTTCATGTGAAAACCCAACATTC -3'

Sequencing Primer
(F):5'- GGAAACTCGCAATTTGGAGTTCTCTC -3'
(R):5'- TCATGTGAAAACCCAACATTCTAATC -3'
Posted On 2021-08-02