Incidental Mutation 'R8145:Dnajb1'
ID 632752
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 067573-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8145 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 84334822-84339282 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84336944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 238 (V238D)
Ref Sequence ENSEMBL: ENSMUSP00000005620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005620] [ENSMUST00000212300]
AlphaFold Q9QYJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000005620
AA Change: V238D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005620
Gene: ENSMUSG00000005483
AA Change: V238D

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 probably damaging
Transcript: ENSMUST00000212300
AA Change: V138D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 90.4%
Validation Efficiency 100% (79/79)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg6 A T 4: 99,634,564 (GRCm39) D273V probably damaging Het
Ankk1 T A 9: 49,327,097 (GRCm39) H694L possibly damaging Het
Asb7 G T 7: 66,309,696 (GRCm39) N173K probably benign Het
Atp10b A T 11: 43,092,949 (GRCm39) Q428L probably damaging Het
Bag3 A G 7: 128,147,612 (GRCm39) E409G possibly damaging Het
Bltp1 T C 3: 37,052,416 (GRCm39) S3039P probably damaging Het
Bpifb2 T A 2: 153,733,232 (GRCm39) V398E probably damaging Het
Btf3l4b A T 13: 96,217,649 (GRCm39) D63E probably benign Het
Ccr6 T C 17: 8,474,945 (GRCm39) V50A probably benign Het
Cdcp3 G T 7: 130,898,045 (GRCm39) V2088L unknown Het
Cdx1 T C 18: 61,152,995 (GRCm39) N204D probably damaging Het
Ciao1 T C 2: 127,087,726 (GRCm39) D203G possibly damaging Het
Cldn7 A T 11: 69,856,892 (GRCm39) Y47F possibly damaging Het
Col6a1 A T 10: 76,559,305 (GRCm39) D110E possibly damaging Het
Cpne6 C A 14: 55,752,025 (GRCm39) Q261K probably benign Het
Crebbp T C 16: 3,946,389 (GRCm39) T497A probably benign Het
Cyp2s1 A G 7: 25,507,467 (GRCm39) probably null Het
Ddx42 A T 11: 106,130,887 (GRCm39) I454F possibly damaging Het
Ddx5 G T 11: 106,672,911 (GRCm39) A538E probably benign Het
Dntt A G 19: 41,044,224 (GRCm39) Y463C probably damaging Het
Eif4b A G 15: 102,001,423 (GRCm39) T437A unknown Het
Eppk1 T C 15: 75,990,900 (GRCm39) T1994A possibly damaging Het
Fbxw15 A T 9: 109,384,658 (GRCm39) C381S probably benign Het
Fosl2 T A 5: 32,310,412 (GRCm39) V287D probably damaging Het
Gdpd4 A G 7: 97,690,077 (GRCm39) T590A probably benign Het
Gm49368 A G 7: 127,712,487 (GRCm39) E877G probably null Het
Grin2b C T 6: 135,709,497 (GRCm39) A1350T probably benign Het
Gzmk A G 13: 113,308,430 (GRCm39) L257P probably damaging Het
Has2 T A 15: 56,545,175 (GRCm39) K142N probably benign Het
Hectd1 T C 12: 51,831,016 (GRCm39) E944G possibly damaging Het
Hmcn1 T C 1: 150,629,411 (GRCm39) R949G probably benign Het
Hmcn2 A G 2: 31,313,117 (GRCm39) E3442G probably damaging Het
Irf9 T A 14: 55,843,255 (GRCm39) C152* probably null Het
Itga3 A G 11: 94,943,290 (GRCm39) W936R probably damaging Het
Klhl11 G T 11: 100,354,740 (GRCm39) D360E probably damaging Het
Lnx1 G A 5: 74,846,060 (GRCm39) T130I probably benign Het
Lrrc36 C T 8: 106,170,396 (GRCm39) P82L probably damaging Het
Map4k4 T C 1: 40,039,694 (GRCm39) C29R Het
Mki67 T C 7: 135,296,065 (GRCm39) K2990E probably benign Het
Mnt G A 11: 74,733,799 (GRCm39) A477T unknown Het
Mroh9 A G 1: 162,890,096 (GRCm39) S214P probably benign Het
Mrps18b C A 17: 36,225,293 (GRCm39) R94L possibly damaging Het
Myh6 T A 14: 55,191,382 (GRCm39) I820F probably benign Het
Nphp3 A G 9: 103,913,050 (GRCm39) T943A probably benign Het
Or51a25 C A 7: 102,372,937 (GRCm39) L253F probably damaging Het
Or52b4i A G 7: 102,191,830 (GRCm39) H229R probably benign Het
Papolb T C 5: 142,514,353 (GRCm39) D430G probably benign Het
Pdzd2 T C 15: 12,407,458 (GRCm39) H334R probably benign Het
Pkd1l2 T A 8: 117,781,742 (GRCm39) M768L probably benign Het
Pklr G T 3: 89,052,795 (GRCm39) R547L probably benign Het
Pla2g4a T C 1: 149,716,394 (GRCm39) Y697C probably benign Het
Prkcd T C 14: 30,324,019 (GRCm39) T435A probably benign Het
Rfx1 C T 8: 84,800,657 (GRCm39) P86L probably benign Het
Rnf19b C A 4: 128,977,862 (GRCm39) A693D probably benign Het
Scn9a A G 2: 66,317,754 (GRCm39) I1578T probably damaging Het
Slamf9 A G 1: 172,303,942 (GRCm39) S96G probably benign Het
Slc17a8 T C 10: 89,412,233 (GRCm39) D584G probably benign Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slc2a7 C A 4: 150,252,818 (GRCm39) T486K probably damaging Het
Slc6a20a G A 9: 123,466,065 (GRCm39) A592V probably damaging Het
Spz1 T C 13: 92,711,609 (GRCm39) D289G probably benign Het
Sspo G A 6: 48,444,683 (GRCm39) C2226Y possibly damaging Het
Taf4b T G 18: 14,963,085 (GRCm39) D608E probably damaging Het
Tagap1 A T 17: 7,223,526 (GRCm39) I390N probably damaging Het
Tcp11l2 A G 10: 84,444,480 (GRCm39) N430D probably damaging Het
Thsd7b T C 1: 129,688,036 (GRCm39) L649P probably damaging Het
Tmprss15 C T 16: 78,757,473 (GRCm39) G956R probably damaging Het
Tnc G T 4: 63,935,716 (GRCm39) Q407K probably benign Het
Tti1 C A 2: 157,849,509 (GRCm39) E577* probably null Het
Vmn2r79 A T 7: 86,686,862 (GRCm39) M748L probably benign Het
Zbtb37 C T 1: 160,847,654 (GRCm39) R451Q probably damaging Het
Zfp1002 T C 2: 150,096,455 (GRCm39) K325E probably benign Het
Zfp566 A T 7: 29,777,785 (GRCm39) I132N probably benign Het
Zik1 C T 7: 10,223,930 (GRCm39) G389E probably damaging Het
Zzef1 A T 11: 72,799,295 (GRCm39) K2382* probably null 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
R5379:Dnajb1 UTSW 8 84,335,135 (GRCm39) missense possibly damaging 0.87
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
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'- GAAGAGATCTACAGCGGCTG -3'
(R):5'- AGAAGGGTCAGGTCTACCAG -3'

Sequencing Primer
(F):5'- GATCTACAGCGGCTGTACCAAG -3'
(R):5'- TCTACCAGACCAGGCCCG -3'
Posted On 2020-06-30