Incidental Mutation 'IGL00495:Dnajb8'
ID 10244
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajb8
Ensembl Gene ENSMUSG00000048206
Gene Name DnaJ heat shock protein family (Hsp40) member B8
Synonyms mDj6, 1700016F14Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.654) question?
Stock # IGL00495
Quality Score
Status
Chromosome 6
Chromosomal Location 88199250-88200238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88199836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 124 (R124L)
Ref Sequence ENSEMBL: ENSMUSP00000056592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061866]
AlphaFold Q9QYI7
Predicted Effect possibly damaging
Transcript: ENSMUST00000061866
AA Change: R124L

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000056592
Gene: ENSMUSG00000048206
AA Change: R124L

DomainStartEndE-ValueType
DnaJ 2 61 5.41e-33 SMART
low complexity region 155 181 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151901
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156018
Predicted Effect probably benign
Transcript: ENSMUST00000203827
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the DNAJ/HSP40 family of proteins that regulate chaperone activity. This family member suppresses aggregation and toxicity of polyglutamine proteins, and the C-terminal tail is essential for this activity. It has been implicated as a cancer-testis antigen and as a cancer stem-like cell antigen involved in renal cell carcinoma. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,327,143 (GRCm39) T679A probably benign Het
Bhlhe40 T A 6: 108,638,139 (GRCm39) M33K probably benign Het
Cacna2d1 T C 5: 16,575,607 (GRCm39) S1059P probably benign Het
Cdkn1a C A 17: 29,317,494 (GRCm39) A38E possibly damaging Het
Chrm2 A T 6: 36,500,355 (GRCm39) I71F possibly damaging Het
Cntnap5c A G 17: 58,469,272 (GRCm39) Q618R probably benign Het
Cog5 T A 12: 31,887,308 (GRCm39) N476K probably benign Het
Dhx36 G A 3: 62,377,979 (GRCm39) probably benign Het
Dnajc16 A T 4: 141,490,874 (GRCm39) probably null Het
Dzip1 T C 14: 119,120,806 (GRCm39) D717G probably benign Het
Eps15 G T 4: 109,166,346 (GRCm39) V80L probably damaging Het
Fmn1 G A 2: 113,274,812 (GRCm39) probably benign Het
Gm12185 A G 11: 48,798,688 (GRCm39) S602P probably damaging Het
Gm28539 T G 16: 18,773,530 (GRCm39) probably benign Het
Grm3 T C 5: 9,562,290 (GRCm39) N520S probably benign Het
Hivep2 A G 10: 14,017,988 (GRCm39) N1825S probably damaging Het
Igfbp2 A G 1: 72,888,287 (GRCm39) H143R probably benign Het
Igsf8 T G 1: 172,145,111 (GRCm39) V146G possibly damaging Het
Kif13b T G 14: 64,951,562 (GRCm39) S68A probably benign Het
Lrrc15 T A 16: 30,092,848 (GRCm39) I164F possibly damaging Het
Mrrf G A 2: 36,031,643 (GRCm39) R53H possibly damaging Het
Ms4a6d G A 19: 11,579,249 (GRCm39) T76I probably damaging Het
Pkd1l1 T C 11: 8,818,493 (GRCm39) R1332G probably benign Het
Plekha1 A G 7: 130,479,569 (GRCm39) Y29C probably damaging Het
Pnliprp1 A T 19: 58,723,162 (GRCm39) H221L probably damaging Het
Pomt2 T C 12: 87,171,630 (GRCm39) D380G probably damaging Het
Ppm1f C A 16: 16,728,835 (GRCm39) T79N possibly damaging Het
Ppp4r3b A C 11: 29,161,782 (GRCm39) T719P possibly damaging Het
Socs4 G A 14: 47,527,709 (GRCm39) V215I probably benign Het
Spg11 A G 2: 121,924,937 (GRCm39) probably null Het
Stk31 T A 6: 49,414,377 (GRCm39) C459S probably benign Het
Ttn A G 2: 76,539,546 (GRCm39) V26153A possibly damaging Het
Twf1 C T 15: 94,478,817 (GRCm39) probably benign Het
Vrk3 A T 7: 44,419,071 (GRCm39) K383M probably damaging Het
Wdr83 A T 8: 85,806,443 (GRCm39) N118K probably damaging Het
Other mutations in Dnajb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01671:Dnajb8 APN 6 88,199,902 (GRCm39) missense probably benign 0.00
IGL01838:Dnajb8 APN 6 88,200,033 (GRCm39) missense possibly damaging 0.85
IGL01976:Dnajb8 APN 6 88,199,508 (GRCm39) missense probably damaging 0.99
IGL03135:Dnajb8 APN 6 88,200,013 (GRCm39) missense probably damaging 1.00
R0511:Dnajb8 UTSW 6 88,199,467 (GRCm39) start codon destroyed probably null 0.98
R0762:Dnajb8 UTSW 6 88,200,036 (GRCm39) missense probably damaging 1.00
R2519:Dnajb8 UTSW 6 88,199,857 (GRCm39) missense probably benign
R5861:Dnajb8 UTSW 6 88,200,088 (GRCm39) missense possibly damaging 0.80
R5946:Dnajb8 UTSW 6 88,199,575 (GRCm39) missense probably benign 0.37
R6575:Dnajb8 UTSW 6 88,200,057 (GRCm39) missense probably damaging 1.00
R6767:Dnajb8 UTSW 6 88,199,634 (GRCm39) missense probably damaging 0.97
R6814:Dnajb8 UTSW 6 88,200,022 (GRCm39) missense probably damaging 1.00
R6872:Dnajb8 UTSW 6 88,200,022 (GRCm39) missense probably damaging 1.00
R8189:Dnajb8 UTSW 6 88,199,940 (GRCm39) missense possibly damaging 0.87
R8190:Dnajb8 UTSW 6 88,199,940 (GRCm39) missense possibly damaging 0.87
R8191:Dnajb8 UTSW 6 88,199,940 (GRCm39) missense possibly damaging 0.87
R8192:Dnajb8 UTSW 6 88,199,940 (GRCm39) missense possibly damaging 0.87
R8193:Dnajb8 UTSW 6 88,199,940 (GRCm39) missense possibly damaging 0.87
R8210:Dnajb8 UTSW 6 88,199,940 (GRCm39) missense possibly damaging 0.87
R8219:Dnajb8 UTSW 6 88,199,940 (GRCm39) missense possibly damaging 0.87
R8221:Dnajb8 UTSW 6 88,199,940 (GRCm39) missense possibly damaging 0.87
R8224:Dnajb8 UTSW 6 88,199,940 (GRCm39) missense possibly damaging 0.87
R8225:Dnajb8 UTSW 6 88,199,940 (GRCm39) missense possibly damaging 0.87
R9244:Dnajb8 UTSW 6 88,199,884 (GRCm39) missense probably damaging 1.00
Z1088:Dnajb8 UTSW 6 88,199,827 (GRCm39) missense probably benign
Z1176:Dnajb8 UTSW 6 88,199,892 (GRCm39) missense possibly damaging 0.79
Posted On 2012-12-06