Incidental Mutation 'IGL01490:Dnajb9'
ID88834
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajb9
Ensembl Gene ENSMUSG00000014905
Gene NameDnaJ heat shock protein family (Hsp40) member B9
SynonymsmDj7, Mdg1, microvascular endothelial differentiation gene, ERdj4
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.303) question?
Stock #IGL01490
Quality Score
Status
Chromosome12
Chromosomal Location44205559-44210326 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 44207086 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 179 (S179R)
Ref Sequence ENSEMBL: ENSMUSP00000015049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015049] [ENSMUST00000220421]
Predicted Effect possibly damaging
Transcript: ENSMUST00000015049
AA Change: S179R

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000015049
Gene: ENSMUSG00000014905
AA Change: S179R

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 noncoding transcript
Transcript: ENSMUST00000219471
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
1700125H20Rik A G 11: 85,178,312 D52G probably damaging Het
Abca2 A G 2: 25,446,011 Y2131C probably damaging Het
Ano6 T A 15: 95,948,410 S510T probably benign Het
Asb16 A T 11: 102,276,749 N314Y probably damaging Het
Atp6v0b G A 4: 117,885,106 Q150* probably null Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Crim1 A G 17: 78,335,296 D481G possibly damaging Het
Dnajb2 T C 1: 75,236,890 S3P probably damaging Het
Dock2 A T 11: 34,705,781 I416N probably damaging Het
Dock7 G T 4: 98,945,118 probably benign Het
Eif6 T C 2: 155,826,182 I46V probably benign Het
Fcgr1 T C 3: 96,284,370 D374G probably benign Het
Gatad2b A G 3: 90,352,078 I374V possibly damaging Het
Gfpt2 T C 11: 49,827,127 probably benign Het
Gpr1 T C 1: 63,183,296 Y260C probably damaging Het
H2-M10.2 G T 17: 36,285,485 T156K probably damaging Het
Il20rb T A 9: 100,473,154 I79F probably damaging Het
Kcnip3 C T 2: 127,510,879 R44H probably benign Het
Lama1 A T 17: 67,750,584 D551V possibly damaging Het
Mex3b C A 7: 82,869,827 P450Q possibly damaging Het
Mmp20 T C 9: 7,628,329 L26P probably benign Het
Msh3 G A 13: 92,300,305 T499M probably damaging Het
Myo18b T C 5: 112,809,700 S1466G possibly damaging Het
Myom3 A G 4: 135,810,778 R1324G possibly damaging Het
Nxph3 A G 11: 95,511,093 I165T possibly damaging Het
Prex2 G A 1: 11,184,545 probably null Het
Ptpn6 T A 6: 124,728,344 E208V probably damaging Het
Qpct T C 17: 79,089,740 V354A probably benign Het
Rfx4 A G 10: 84,840,851 I108V possibly damaging Het
Tmem67 A G 4: 12,057,422 probably benign Het
Trappc12 A T 12: 28,746,915 I206N probably damaging Het
Vmn1r173 A T 7: 23,702,707 K122N probably benign Het
Wdr35 G T 12: 8,977,381 G54V probably damaging Het
Zfyve26 A T 12: 79,244,373 C2153S probably damaging Het
Other mutations in Dnajb9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02093:Dnajb9 APN 12 44207204 missense probably damaging 0.99
IGL03383:Dnajb9 APN 12 44208313 splice site probably benign
R0355:Dnajb9 UTSW 12 44207204 missense probably damaging 0.98
R0595:Dnajb9 UTSW 12 44208284 missense probably benign 0.00
R2191:Dnajb9 UTSW 12 44207073 missense probably benign
R4192:Dnajb9 UTSW 12 44207077 missense probably benign 0.01
R7574:Dnajb9 UTSW 12 44207386 missense probably damaging 1.00
X0067:Dnajb9 UTSW 12 44207333 missense possibly damaging 0.63
Posted On2013-11-18