Incidental Mutation 'IGL01976:Dnajb8'
ID 182679
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 # IGL01976
Quality Score
Status
Chromosome 6
Chromosomal Location 88199250-88200238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88199508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 15 (S15P)
Ref Sequence ENSEMBL: ENSMUSP00000056592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061866]
AlphaFold Q9QYI7
Predicted Effect probably damaging
Transcript: ENSMUST00000061866
AA Change: S15P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056592
Gene: ENSMUSG00000048206
AA Change: S15P

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T C 6: 85,599,647 (GRCm39) V1960A possibly damaging Het
Asph A T 4: 9,475,471 (GRCm39) N537K probably damaging Het
Bnip2 T C 9: 69,908,116 (GRCm39) probably benign Het
Cc2d2a C A 5: 43,840,457 (GRCm39) Q104K probably benign Het
Cd300ld A G 11: 114,878,270 (GRCm39) S81P probably damaging Het
Clec4a1 T C 6: 122,905,033 (GRCm39) probably benign Het
Erp27 C A 6: 136,896,987 (GRCm39) V72L probably damaging Het
Gpr156 A G 16: 37,799,395 (GRCm39) T131A probably damaging Het
Grk1 T C 8: 13,465,993 (GRCm39) V479A probably damaging Het
H2bc1 T A 13: 24,117,982 (GRCm39) D53V possibly damaging Het
Hspg2 A G 4: 137,289,237 (GRCm39) D3784G probably damaging Het
Irf2 A T 8: 47,260,260 (GRCm39) K26M probably damaging Het
Irx6 C A 8: 93,402,717 (GRCm39) C27* probably null Het
Izumo1r C T 9: 14,812,975 (GRCm39) C99Y probably damaging Het
Klrb1a T A 6: 128,595,072 (GRCm39) T132S probably benign Het
Mmp13 C T 9: 7,278,974 (GRCm39) probably benign Het
Myo5b G A 18: 74,831,348 (GRCm39) R766Q probably damaging Het
Myt1 T C 2: 181,437,532 (GRCm39) L81P probably damaging Het
Nfat5 G A 8: 108,094,191 (GRCm39) V793I probably damaging Het
Nup210 A G 6: 91,030,596 (GRCm39) V108A possibly damaging Het
Omd T A 13: 49,743,119 (GRCm39) Y56* probably null Het
Or4b1d A G 2: 89,969,268 (GRCm39) S72P probably damaging Het
Pramel27 A G 4: 143,579,363 (GRCm39) N316S probably benign Het
Psmd9 A G 5: 123,372,697 (GRCm39) E60G probably damaging Het
Rab11fip1 T C 8: 27,642,825 (GRCm39) E658G possibly damaging Het
Smchd1 T A 17: 71,701,720 (GRCm39) K1091* probably null Het
Supt16 A T 14: 52,419,764 (GRCm39) N111K possibly damaging Het
Trrap A G 5: 144,793,799 (GRCm39) T3666A probably benign Het
Ttn T C 2: 76,616,095 (GRCm39) D8289G probably damaging Het
Ush2a T A 1: 188,643,438 (GRCm39) S4267T probably benign Het
Usp50 T A 2: 126,551,386 (GRCm39) E31V probably benign Het
Other mutations in Dnajb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Dnajb8 APN 6 88,199,836 (GRCm39) missense possibly damaging 0.62
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
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 2014-05-07