Incidental Mutation 'IGL03383:Dnajb9'
ID 420786
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajb9
Ensembl Gene ENSMUSG00000014905
Gene Name DnaJ heat shock protein family (Hsp40) member B9
Synonyms ERdj4, Mdg1, mDj7, microvascular endothelial differentiation gene
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.446) question?
Stock # IGL03383
Quality Score
Status
Chromosome 12
Chromosomal Location 44252680-44256851 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 44255096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015049] [ENSMUST00000220421]
AlphaFold Q9QYI6
Predicted Effect probably benign
Transcript: ENSMUST00000015049
SMART Domains Protein: ENSMUSP00000015049
Gene: ENSMUSG00000014905

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
DnaJ 25 82 2.55e-29 SMART
low complexity region 111 125 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177238
Predicted Effect probably benign
Transcript: ENSMUST00000220421
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized to the endoplasmic reticulum. This protein is induced by endoplasmic reticulum stress and plays a role in protecting stressed cells from apoptosis. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele show perinatal death, reduced birth size and liver glycogen levels, and hypoglycemia. Surviving adults show elevated ER stress in MEFs, lung, kidney, salivary gland and in pancreas, associated with beta cell loss, hypoinsulinemia, and glucose intolerance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl4 C T 4: 111,514,620 (GRCm39) probably benign Het
Cit T C 5: 116,011,904 (GRCm39) probably benign Het
Clmp A G 9: 40,685,737 (GRCm39) N211S probably damaging Het
Cnot2 A G 10: 116,330,722 (GRCm39) probably benign Het
Cntn6 A G 6: 104,753,418 (GRCm39) probably benign Het
Ece2 T A 16: 20,451,847 (GRCm39) N411K possibly damaging Het
Fshr A G 17: 89,354,127 (GRCm39) I77T possibly damaging Het
Fshr A G 17: 89,293,121 (GRCm39) M519T probably damaging Het
Gm10654 G A 8: 71,384,775 (GRCm39) noncoding transcript Het
Gm5093 A G 17: 46,750,517 (GRCm39) I170T probably benign Het
Meis3 A G 7: 15,917,744 (GRCm39) K299R probably damaging Het
Nxf1 T C 19: 8,741,061 (GRCm39) F15L probably damaging Het
Nxpe3 T C 16: 55,670,076 (GRCm39) D343G probably benign Het
Or4a73 A T 2: 89,420,656 (GRCm39) Y268N probably benign Het
Polr3k A G 2: 181,507,820 (GRCm39) T65A probably damaging Het
Preb A T 5: 31,115,665 (GRCm39) W222R probably damaging Het
Psmd11 T C 11: 80,360,671 (GRCm39) I56T probably damaging Het
Rtkn2 A G 10: 67,853,667 (GRCm39) T232A probably damaging Het
Scaf11 T C 15: 96,318,064 (GRCm39) probably null Het
Slc4a10 A T 2: 62,097,780 (GRCm39) K493M probably damaging Het
Stard10 A G 7: 100,991,777 (GRCm39) K112E probably damaging Het
Sugp1 A T 8: 70,522,217 (GRCm39) probably benign Het
Tasor A G 14: 27,163,918 (GRCm39) I235V possibly damaging Het
Tmem156 T C 5: 65,233,040 (GRCm39) E139G probably damaging Het
Tubd1 C T 11: 86,439,834 (GRCm39) probably benign Het
Uap1 G A 1: 169,986,460 (GRCm39) T174M probably damaging Het
Vmn2r13 T C 5: 109,304,398 (GRCm39) T678A probably damaging Het
Vmn2r84 A T 10: 130,222,556 (GRCm39) C555S probably damaging Het
Vps13d T C 4: 144,894,889 (GRCm39) probably null Het
Vps8 T C 16: 21,254,573 (GRCm39) probably null Het
Wee1 A G 7: 109,738,899 (GRCm39) N590S probably damaging Het
Zfp112 C A 7: 23,825,103 (GRCm39) S357Y probably damaging Het
Zfp423 T A 8: 88,586,080 (GRCm39) K48* probably null Het
Zscan4d A G 7: 10,896,692 (GRCm39) V226A probably benign Het
Other mutations in Dnajb9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01490:Dnajb9 APN 12 44,253,869 (GRCm39) missense possibly damaging 0.72
IGL02093:Dnajb9 APN 12 44,253,987 (GRCm39) missense probably damaging 0.99
R0355:Dnajb9 UTSW 12 44,253,987 (GRCm39) missense probably damaging 0.98
R0595:Dnajb9 UTSW 12 44,255,067 (GRCm39) missense probably benign 0.00
R2191:Dnajb9 UTSW 12 44,253,856 (GRCm39) missense probably benign
R4192:Dnajb9 UTSW 12 44,253,860 (GRCm39) missense probably benign 0.01
R7574:Dnajb9 UTSW 12 44,254,169 (GRCm39) missense probably damaging 1.00
R8213:Dnajb9 UTSW 12 44,253,916 (GRCm39) missense probably benign 0.18
X0067:Dnajb9 UTSW 12 44,254,116 (GRCm39) missense possibly damaging 0.63
Posted On 2016-08-02