Incidental Mutation 'R6767:Dnajb8'
ID 531974
Institutional Source Beutler Lab
Gene Symbol Dnajb8
Ensembl Gene ENSMUSG00000048206
Gene Name DnaJ heat shock protein family (Hsp40) member B8
Synonyms mDj6, 1700016F14Rik
MMRRC Submission 044883-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.654) question?
Stock # R6767 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 88199250-88200238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88199634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 57 (S57P)
Ref Sequence ENSEMBL: ENSMUSP00000056592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061866]
AlphaFold Q9QYI7
Predicted Effect probably damaging
Transcript: ENSMUST00000061866
AA Change: S57P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056592
Gene: ENSMUSG00000048206
AA Change: S57P

DomainStartEndE-ValueType
DnaJ 2 61 5.41e-33 SMART
low complexity region 155 181 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203827
Meta Mutation Damage Score 0.7169 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 100% (67/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l G A 8: 44,079,951 (GRCm39) T91I probably damaging Het
Ak7 A G 12: 105,732,866 (GRCm39) N537D probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Atp8a2 A G 14: 60,284,171 (GRCm39) F47S probably damaging Het
Cadps T A 14: 12,550,888 (GRCm38) T449S probably damaging Het
Ccdc33 C G 9: 57,940,527 (GRCm39) Q489H possibly damaging Het
Cd163 T G 6: 124,281,738 (GRCm39) S14A possibly damaging Het
Cemip G A 7: 83,647,832 (GRCm39) L83F probably damaging Het
Chrd C T 16: 20,557,376 (GRCm39) P665L probably benign Het
Cib4 T A 5: 30,691,589 (GRCm39) H44L probably benign Het
Clic1 T A 17: 35,272,029 (GRCm39) L99Q probably benign Het
Cnst C T 1: 179,437,519 (GRCm39) T361I possibly damaging Het
Dnah6 C A 6: 73,110,591 (GRCm39) V1613L probably benign Het
Dyrk3 T C 1: 131,057,327 (GRCm39) H282R probably damaging Het
Fasn T C 11: 120,708,313 (GRCm39) I651V possibly damaging Het
Gas6 A G 8: 13,515,784 (GRCm39) S663P probably damaging Het
Gbp8 T C 5: 105,166,478 (GRCm39) M284V probably benign Het
Gm12695 T C 4: 96,650,933 (GRCm39) probably null Het
Gm6034 T A 17: 36,354,023 (GRCm39) M1K probably null Het
Gm9376 A G 14: 118,504,648 (GRCm39) T27A unknown Het
Grid2 A G 6: 63,907,999 (GRCm39) D213G probably benign Het
Gsdma3 A T 11: 98,528,710 (GRCm39) D388V possibly damaging Het
H4c2 T A 13: 23,941,005 (GRCm39) M1K probably null Het
Hdac9 T A 12: 34,337,528 (GRCm39) H716L probably damaging Het
Hivep1 T C 13: 42,308,203 (GRCm39) S148P probably damaging Het
Kctd1 T C 18: 15,195,232 (GRCm39) T464A possibly damaging Het
Kera A G 10: 97,445,034 (GRCm39) D131G possibly damaging Het
Kif2c C T 4: 117,035,385 (GRCm39) R21Q probably benign Het
Luc7l3 G T 11: 94,183,779 (GRCm39) D453E probably damaging Het
Mrpl9 A G 3: 94,357,528 (GRCm39) probably benign Het
Mtss1 T C 15: 58,825,430 (GRCm39) S257G probably benign Het
N4bp2 T C 5: 65,974,530 (GRCm39) F1467L probably damaging Het
Naa25 T C 5: 121,577,928 (GRCm39) V945A probably damaging Het
Nrg1 T C 8: 32,407,923 (GRCm39) I103M probably damaging Het
Or2w1b C T 13: 21,300,227 (GRCm39) R122C probably benign Het
Orm3 C T 4: 63,274,531 (GRCm39) T32I probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Plch1 A T 3: 63,662,765 (GRCm39) M246K probably damaging Het
Pld4 A C 12: 112,730,549 (GRCm39) D144A possibly damaging Het
Prelp C A 1: 133,840,448 (GRCm39) V345L probably benign Het
Rnf121 A G 7: 101,672,619 (GRCm39) F238L probably damaging Het
Rnf40 A G 7: 127,195,757 (GRCm39) K667R possibly damaging Het
Scgb1b12 A T 7: 32,033,920 (GRCm39) N60I probably damaging Het
Serpina3n T G 12: 104,375,321 (GRCm39) V131G probably benign Het
Slc22a21 T C 11: 53,870,328 (GRCm39) Y119C probably damaging Het
Slc22a28 A G 19: 8,094,409 (GRCm39) F204S probably damaging Het
Smc6 T A 12: 11,321,821 (GRCm39) D29E possibly damaging Het
Smgc T A 15: 91,725,601 (GRCm39) F40Y possibly damaging Het
Sorcs3 G T 19: 48,702,010 (GRCm39) L630F probably damaging Het
Sphk1 A G 11: 116,426,982 (GRCm39) K306E possibly damaging Het
Spmip2 A T 3: 79,337,330 (GRCm39) D46V probably benign Het
Spsb1 C T 4: 149,991,301 (GRCm39) G89D probably damaging Het
Stat4 G T 1: 52,115,742 (GRCm39) M227I probably benign Het
Syngr4 A G 7: 45,536,915 (GRCm39) V116A possibly damaging Het
Tacc1 T C 8: 25,730,816 (GRCm39) M1V probably null Het
Tcf7l1 T G 6: 72,608,275 (GRCm39) K355Q probably damaging Het
Tmem192 T C 8: 65,416,888 (GRCm39) S36P probably damaging Het
Top3a G T 11: 60,641,579 (GRCm39) N368K possibly damaging Het
Tpk1 T A 6: 43,323,727 (GRCm39) I241F possibly damaging Het
Trappc10 A G 10: 78,029,345 (GRCm39) I1064T possibly damaging Het
Vmn1r18 T A 6: 57,367,206 (GRCm39) K116M probably damaging Het
Vmn2r40 A T 7: 8,923,139 (GRCm39) H407Q unknown Het
Vmn2r91 T A 17: 18,327,807 (GRCm39) L467H probably damaging Het
Wdr59 G T 8: 112,202,733 (GRCm39) S603R probably damaging Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zfp324 A C 7: 12,704,527 (GRCm39) K74N probably null Het
Zfyve16 A G 13: 92,644,707 (GRCm39) L1165P probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- ATGGCCAACTACTATGAAGTGC -3'
(R):5'- AAGGGAAGACTCTGTGTAAACC -3'

Sequencing Primer
(F):5'- CAACTACTATGAAGTGCTGGGTGTAC -3'
(R):5'- CTGAACGGAGTGTCCCAGAATTC -3'
Posted On 2018-08-29