Incidental Mutation 'R5379:Dnajb1'
ID 425752
Institutional Source Beutler Lab
Gene Symbol Dnajb1
Ensembl Gene ENSMUSG00000005483
Gene Name DnaJ heat shock protein family (Hsp40) member B1
Synonyms Hsp40, 0610007I11Rik
MMRRC Submission 042954-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5379 (G1)
Quality Score 162
Status Validated
Chromosome 8
Chromosomal Location 84334822-84339282 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84335135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 59 (R59C)
Ref Sequence ENSEMBL: ENSMUSP00000005620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005620] [ENSMUST00000212300]
AlphaFold Q9QYJ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000005620
AA Change: R59C

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000005620
Gene: ENSMUSG00000005483
AA Change: R59C

DomainStartEndE-ValueType
DnaJ 3 60 1.07e-31 SMART
low complexity region 68 91 N/A INTRINSIC
low complexity region 136 147 N/A INTRINSIC
Pfam:DnaJ_C 164 323 3e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211972
Predicted Effect probably benign
Transcript: ENSMUST00000212300
Meta Mutation Damage Score 0.1695 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: This gene encodes a member of the DnaJ or Hsp40 (heat shock protein 40 kD) family of proteins. The encoded protein is a molecular chaperone that stimulates the ATPase activity of Hsp70 heat-shock proteins in order to promote protein folding and prevent misfolded protein aggregation. The encoded protein may also inhibit apoptosis. Peritoneal macrophages derived from homozygous knockout mice for this gene exhibit impaired heat tolerance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, and overtly normal; however, homozygous null peritoneal macrophages display impaired thermotolerance in the early (but not in the late) phase after mild heat treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T A 11: 7,096,532 (GRCm39) L640Q probably damaging Het
Afap1l1 T C 18: 61,891,721 (GRCm39) E32G probably damaging Het
Atp1a1 T A 3: 101,489,411 (GRCm39) M734L probably benign Het
B4galt6 T C 18: 20,822,296 (GRCm39) D294G probably damaging Het
Baz1a T G 12: 54,941,133 (GRCm39) D1539A probably damaging Het
Bmper T A 9: 23,208,520 (GRCm39) S141T probably benign Het
Camkv T C 9: 107,822,545 (GRCm39) V20A probably damaging Het
Chst8 A G 7: 34,375,279 (GRCm39) Y187H probably damaging Het
Coro1c A G 5: 113,983,443 (GRCm39) Y362H probably damaging Het
Csmd3 C A 15: 47,499,846 (GRCm39) G3008* probably null Het
Dnah17 T C 11: 118,008,029 (GRCm39) probably benign Het
Dpf1 A G 7: 29,003,533 (GRCm39) K10E probably benign Het
Eif5 T C 12: 111,509,989 (GRCm39) L311P probably damaging Het
Eqtn A G 4: 94,795,825 (GRCm39) F251S probably damaging Het
Fancg A G 4: 43,002,998 (GRCm39) S620P probably benign Het
Farp1 T C 14: 121,494,169 (GRCm39) V550A possibly damaging Het
Fat2 T C 11: 55,194,767 (GRCm39) T1091A probably damaging Het
Fbxo33 A G 12: 59,266,246 (GRCm39) probably benign Het
Fndc5 A T 4: 129,035,887 (GRCm39) I175F probably damaging Het
Gtf2ird2 G C 5: 134,246,310 (GRCm39) R856P probably benign Het
Hc A T 2: 34,881,077 (GRCm39) F1481I probably damaging Het
Helz2 T A 2: 180,876,862 (GRCm39) T1211S probably benign Het
Hmcn2 G A 2: 31,299,023 (GRCm39) V2790M probably damaging Het
Ighv1-82 T C 12: 115,916,297 (GRCm39) Y71C probably damaging Het
Itgam A G 7: 127,711,560 (GRCm39) D725G probably damaging Het
Kif9 T C 9: 110,350,371 (GRCm39) V754A probably benign Het
Larp4b C A 13: 9,186,945 (GRCm39) T91K probably benign Het
Mki67 T C 7: 135,299,190 (GRCm39) E1948G possibly damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Mrgprb13 A T 7: 47,961,496 (GRCm39) noncoding transcript Het
Nlrc4 A T 17: 74,755,078 (GRCm39) L46* probably null Het
Or13c7c A G 4: 43,836,010 (GRCm39) I160T probably benign Het
Or7g21 A T 9: 19,032,373 (GRCm39) T38S probably damaging Het
Or8d1b T C 9: 38,887,151 (GRCm39) Y60H possibly damaging Het
Orm1 A G 4: 63,264,230 (GRCm39) probably null Het
Parva A T 7: 112,178,927 (GRCm39) H311L probably benign Het
Pramel25 A G 4: 143,521,493 (GRCm39) I370V probably benign Het
Proca1 C A 11: 78,096,092 (GRCm39) S154R probably damaging Het
R3hdm2 T C 10: 127,307,771 (GRCm39) V344A probably damaging Het
Rabep1 A T 11: 70,799,247 (GRCm39) K293N probably damaging Het
Ranbp6 A G 19: 29,789,083 (GRCm39) V423A probably damaging Het
Rnf20 T A 4: 49,652,639 (GRCm39) Y711N possibly damaging Het
Sf3b1 A T 1: 55,042,309 (GRCm39) M498K possibly damaging Het
Sin3a T C 9: 57,018,272 (GRCm39) M897T probably benign Het
Sp140 T A 1: 85,538,549 (GRCm39) D95E possibly damaging Het
Srbd1 A C 17: 86,308,964 (GRCm39) I738S possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Svep1 A G 4: 58,072,991 (GRCm39) V2106A possibly damaging Het
Tasor2 T C 13: 3,638,496 (GRCm39) R412G probably benign Het
Tex47 G A 5: 7,354,843 (GRCm39) R8Q probably null Het
Trpc7 A G 13: 56,952,363 (GRCm39) Y548H probably damaging Het
Vmn1r170 A T 7: 23,306,054 (GRCm39) H152L possibly damaging Het
Zfp184 A G 13: 22,144,051 (GRCm39) I586V probably damaging Het
Zfp454 T C 11: 50,774,629 (GRCm39) T15A probably damaging Het
Other mutations in Dnajb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03143:Dnajb1 APN 8 84,335,103 (GRCm39) missense probably damaging 0.99
R2381:Dnajb1 UTSW 8 84,336,971 (GRCm39) missense possibly damaging 0.95
R5027:Dnajb1 UTSW 8 84,336,732 (GRCm39) missense probably benign 0.00
R7014:Dnajb1 UTSW 8 84,336,884 (GRCm39) missense probably damaging 1.00
R7243:Dnajb1 UTSW 8 84,337,393 (GRCm39) missense probably damaging 0.99
R7386:Dnajb1 UTSW 8 84,336,932 (GRCm39) missense probably benign 0.24
R7594:Dnajb1 UTSW 8 84,336,473 (GRCm39) missense probably benign
R7733:Dnajb1 UTSW 8 84,335,006 (GRCm39) missense probably benign 0.11
R7852:Dnajb1 UTSW 8 84,336,834 (GRCm39) missense probably benign 0.00
R8145:Dnajb1 UTSW 8 84,336,944 (GRCm39) missense probably damaging 1.00
R9101:Dnajb1 UTSW 8 84,335,119 (GRCm39) missense probably benign
R9461:Dnajb1 UTSW 8 84,335,173 (GRCm39) critical splice donor site probably null
R9466:Dnajb1 UTSW 8 84,337,384 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGACTACTATCAGACGCTGG -3'
(R):5'- GTGCTAGAAGCTTCTGTGCC -3'

Sequencing Primer
(F):5'- TACTATCAGACGCTGGGCCTG -3'
(R):5'- TAGAAGCTTCTGTGCCAGCGG -3'
Posted On 2016-08-04