Incidental Mutation 'IGL00495:Dnajb8'
ID10244
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: 0.571) question?
Stock #IGL00495
Quality Score
Status
Chromosome6
Chromosomal Location88222268-88254415 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 88222854 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 124 (R124L)
Ref Sequence ENSEMBL: ENSMUSP00000056592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061866]
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: 49,415,843 T679A probably benign Het
Bhlhe40 T A 6: 108,661,178 M33K probably benign Het
Cacna2d1 T C 5: 16,370,609 S1059P probably benign Het
Cdkn1a C A 17: 29,098,520 A38E possibly damaging Het
Chrm2 A T 6: 36,523,420 I71F possibly damaging Het
Cntnap5c A G 17: 58,162,277 Q618R probably benign Het
Cog5 T A 12: 31,837,309 N476K probably benign Het
Dhx36 G A 3: 62,470,558 probably benign Het
Dnajc16 A T 4: 141,763,563 probably null Het
Dzip1 T C 14: 118,883,394 D717G probably benign Het
Eps15 G T 4: 109,309,149 V80L probably damaging Het
Fmn1 G A 2: 113,444,467 probably benign Het
Gm12185 A G 11: 48,907,861 S602P probably damaging Het
Gm28539 T G 16: 18,954,780 probably benign Het
Grm3 T C 5: 9,512,290 N520S probably benign Het
Hivep2 A G 10: 14,142,244 N1825S probably damaging Het
Igfbp2 A G 1: 72,849,128 H143R probably benign Het
Igsf8 T G 1: 172,317,544 V146G possibly damaging Het
Kif13b T G 14: 64,714,113 S68A probably benign Het
Lrrc15 T A 16: 30,274,030 I164F possibly damaging Het
Mrrf G A 2: 36,141,631 R53H possibly damaging Het
Ms4a6d G A 19: 11,601,885 T76I probably damaging Het
Pkd1l1 T C 11: 8,868,493 R1332G probably benign Het
Plekha1 A G 7: 130,877,839 Y29C probably damaging Het
Pnliprp1 A T 19: 58,734,730 H221L probably damaging Het
Pomt2 T C 12: 87,124,856 D380G probably damaging Het
Ppm1f C A 16: 16,910,971 T79N possibly damaging Het
Ppp4r3b A C 11: 29,211,782 T719P possibly damaging Het
Socs4 G A 14: 47,290,252 V215I probably benign Het
Spg11 A G 2: 122,094,456 probably null Het
Stk31 T A 6: 49,437,443 C459S probably benign Het
Ttn A G 2: 76,709,202 V26153A possibly damaging Het
Twf1 C T 15: 94,580,936 probably benign Het
Vrk3 A T 7: 44,769,647 K383M probably damaging Het
Wdr83 A T 8: 85,079,814 N118K probably damaging Het
Other mutations in Dnajb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01671:Dnajb8 APN 6 88222920 missense probably benign 0.00
IGL01838:Dnajb8 APN 6 88223051 missense possibly damaging 0.85
IGL01976:Dnajb8 APN 6 88222526 missense probably damaging 0.99
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 On2012-12-06