Incidental Mutation 'IGL03143:Dnajb1'
ID410773
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajb1
Ensembl Gene ENSMUSG00000005483
Gene NameDnaJ heat shock protein family (Hsp40) member B1
Synonyms0610007I11Rik, Hsp40
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03143
Quality Score
Status
Chromosome8
Chromosomal Location83608193-83612653 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 83608474 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 48 (I48T)
Ref Sequence ENSEMBL: ENSMUSP00000005620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005620] [ENSMUST00000212300]
Predicted Effect probably damaging
Transcript: ENSMUST00000005620
AA Change: I48T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005620
Gene: ENSMUSG00000005483
AA Change: I48T

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
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 T G 9: 121,909,267 L236R probably damaging Het
Agbl1 C T 7: 76,420,045 Q442* probably null Het
Ahrr G A 13: 74,257,495 Q108* probably null Het
Ankrd23 T C 1: 36,531,645 probably benign Het
Art5 A G 7: 102,097,897 I225T probably damaging Het
Asxl3 T C 18: 22,522,974 V1347A probably benign Het
Birc6 A G 17: 74,598,999 M1326V possibly damaging Het
Bpifb6 A C 2: 153,902,735 N32T probably damaging Het
Brip1 T A 11: 86,061,827 T1043S possibly damaging Het
Cbx5 A T 15: 103,213,105 V35E probably damaging Het
Ccdc175 T A 12: 72,136,058 M396L probably benign Het
Ceacam3 G T 7: 17,158,120 E263* probably null Het
Cyp4a12a A G 4: 115,302,003 T157A probably benign Het
Derl3 T C 10: 75,894,490 V129A possibly damaging Het
Dopey2 G A 16: 93,759,655 E349K probably benign Het
E330009J07Rik A T 6: 40,422,894 probably benign Het
Fkbp10 A T 11: 100,422,754 I285F probably benign Het
Frrs1 A T 3: 116,899,187 T37S probably damaging Het
Gata2 A G 6: 88,204,695 Y377C probably damaging Het
Gm9789 T A 16: 89,157,995 probably benign Het
Itpkb T A 1: 180,333,368 V353D probably benign Het
Kcng4 T C 8: 119,625,770 E467G probably damaging Het
Kdm3a A T 6: 71,596,861 I906N probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lamc1 A T 1: 153,332,274 L89Q probably benign Het
Lef1 G T 3: 131,200,316 E314* probably null Het
Lpin3 T C 2: 160,903,598 probably benign Het
Mkl2 A G 16: 13,400,812 N452D possibly damaging Het
Naaladl1 C T 19: 6,114,866 T628I possibly damaging Het
Nell1 C T 7: 50,279,533 Q259* probably null Het
Neu2 G T 1: 87,596,976 E228* probably null Het
Olfr1051 T C 2: 86,276,236 N84D probably benign Het
Olfr1475 A T 19: 13,479,471 H242Q probably damaging Het
Olfr178 A G 16: 58,889,461 F253S probably damaging Het
Olfr935 T G 9: 38,995,436 probably benign Het
Osbpl6 T A 2: 76,548,372 D124E probably damaging Het
Palm T C 10: 79,816,783 probably benign Het
Parp8 C A 13: 116,910,961 probably benign Het
Pax7 A G 4: 139,829,487 probably benign Het
Pcnx3 G A 19: 5,685,395 R468W probably damaging Het
Pds5b T A 5: 150,779,257 V818D probably damaging Het
Piezo2 C T 18: 63,108,076 V694I probably damaging Het
Plk1 A G 7: 122,161,654 probably benign Het
Polb T C 8: 22,640,351 probably benign Het
Rad54b A G 4: 11,599,755 T320A probably damaging Het
Reg3b G A 6: 78,372,200 W103* probably null Het
Slc17a3 T G 13: 23,855,979 probably null Het
Snrnp200 C T 2: 127,230,042 probably benign Het
Stox2 T A 8: 47,193,804 H207L possibly damaging Het
Tbx15 A C 3: 99,352,198 M462L possibly damaging Het
Tcirg1 G A 19: 3,898,811 T458I probably damaging Het
Tnfrsf25 A G 4: 152,116,927 probably benign Het
Trank1 A G 9: 111,366,087 K1060E probably damaging Het
Ttc16 T C 2: 32,774,445 D3G possibly damaging Het
Vmn1r199 A C 13: 22,383,129 N155H probably damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Other mutations in Dnajb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2381:Dnajb1 UTSW 8 83610342 missense possibly damaging 0.95
R5027:Dnajb1 UTSW 8 83610103 missense probably benign 0.00
R5379:Dnajb1 UTSW 8 83608506 missense possibly damaging 0.87
R7014:Dnajb1 UTSW 8 83610255 missense probably damaging 1.00
R7243:Dnajb1 UTSW 8 83610764 missense probably damaging 0.99
Posted On2016-08-02