Incidental Mutation 'IGL01976:Dnajb8'
ID182679
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajb8
Ensembl Gene ENSMUSG00000048206
Gene NameDnaJ heat shock protein family (Hsp40) member B8
SynonymsmDj6, 1700016F14Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.685) question?
Stock #IGL01976
Quality Score
Status
Chromosome6
Chromosomal Location88222268-88254415 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 88222526 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 15 (S15P)
Ref Sequence ENSEMBL: ENSMUSP00000056592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061866]
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: 85,622,665 V1960A possibly damaging Het
Asph A T 4: 9,475,471 N537K probably damaging Het
Bnip2 T C 9: 70,000,834 probably benign Het
Cc2d2a C A 5: 43,683,115 Q104K probably benign Het
Cd300ld A G 11: 114,987,444 S81P probably damaging Het
Clec4a1 T C 6: 122,928,074 probably benign Het
Erp27 C A 6: 136,919,989 V72L probably damaging Het
Gm13103 A G 4: 143,852,793 N316S probably benign Het
Gpr156 A G 16: 37,979,033 T131A probably damaging Het
Grk1 T C 8: 13,415,993 V479A probably damaging Het
Hist1h2ba T A 13: 23,933,999 D53V possibly damaging Het
Hspg2 A G 4: 137,561,926 D3784G probably damaging Het
Irf2 A T 8: 46,807,225 K26M probably damaging Het
Irx6 C A 8: 92,676,089 C27* probably null Het
Izumo1r C T 9: 14,901,679 C99Y probably damaging Het
Klrb1a T A 6: 128,618,109 T132S probably benign Het
Mmp13 C T 9: 7,278,974 probably benign Het
Myo5b G A 18: 74,698,277 R766Q probably damaging Het
Myt1 T C 2: 181,795,739 L81P probably damaging Het
Nfat5 G A 8: 107,367,559 V793I probably damaging Het
Nup210 A G 6: 91,053,614 V108A possibly damaging Het
Olfr32 A G 2: 90,138,924 S72P probably damaging Het
Omd T A 13: 49,589,643 Y56* probably null Het
Psmd9 A G 5: 123,234,634 E60G probably damaging Het
Rab11fip1 T C 8: 27,152,797 E658G possibly damaging Het
Smchd1 T A 17: 71,394,725 K1091* probably null Het
Supt16 A T 14: 52,182,307 N111K possibly damaging Het
Trrap A G 5: 144,856,989 T3666A probably benign Het
Ttn T C 2: 76,785,751 D8289G probably damaging Het
Ush2a T A 1: 188,911,241 S4267T probably benign Het
Usp50 T A 2: 126,709,466 E31V probably benign Het
Other mutations in Dnajb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Dnajb8 APN 6 88222854 missense possibly damaging 0.62
IGL01671:Dnajb8 APN 6 88222920 missense probably benign 0.00
IGL01838:Dnajb8 APN 6 88223051 missense possibly damaging 0.85
IGL03135:Dnajb8 APN 6 88223031 missense probably damaging 1.00
R0511:Dnajb8 UTSW 6 88222485 start codon destroyed probably null 0.98
R0762:Dnajb8 UTSW 6 88223054 missense probably damaging 1.00
R2519:Dnajb8 UTSW 6 88222875 missense probably benign
R5861:Dnajb8 UTSW 6 88223106 missense possibly damaging 0.80
R5946:Dnajb8 UTSW 6 88222593 missense probably benign 0.37
R6575:Dnajb8 UTSW 6 88223075 missense probably damaging 1.00
R6767:Dnajb8 UTSW 6 88222652 missense probably damaging 0.97
R6814:Dnajb8 UTSW 6 88223040 missense probably damaging 1.00
R6872:Dnajb8 UTSW 6 88223040 missense probably damaging 1.00
R8189:Dnajb8 UTSW 6 88222958 missense possibly damaging 0.87
R8190:Dnajb8 UTSW 6 88222958 missense possibly damaging 0.87
R8191:Dnajb8 UTSW 6 88222958 missense possibly damaging 0.87
R8192:Dnajb8 UTSW 6 88222958 missense possibly damaging 0.87
R8193:Dnajb8 UTSW 6 88222958 missense possibly damaging 0.87
R8210:Dnajb8 UTSW 6 88222958 missense possibly damaging 0.87
R8219:Dnajb8 UTSW 6 88222958 missense possibly damaging 0.87
R8221:Dnajb8 UTSW 6 88222958 missense possibly damaging 0.87
R8224:Dnajb8 UTSW 6 88222958 missense possibly damaging 0.87
R8225:Dnajb8 UTSW 6 88222958 missense possibly damaging 0.87
Z1088:Dnajb8 UTSW 6 88222845 missense probably benign
Z1176:Dnajb8 UTSW 6 88222910 missense possibly damaging 0.79
Posted On2014-05-07