Incidental Mutation 'IGL02093:Dnajb9'
ID279504
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: 0.373) question?
Stock #IGL02093
Quality Score
Status
Chromosome12
Chromosomal Location44205559-44210326 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44207204 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 140 (H140R)
Ref Sequence ENSEMBL: ENSMUSP00000015049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015049] [ENSMUST00000220421]
Predicted Effect probably damaging
Transcript: ENSMUST00000015049
AA Change: H140R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000015049
Gene: ENSMUSG00000014905
AA Change: H140R

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 T A 1: 173,332,829 Y41F probably benign Het
Amigo1 T C 3: 108,187,898 Y238H probably benign Het
Ankrd17 A G 5: 90,242,963 S2283P possibly damaging Het
Apobec4 A G 1: 152,756,368 H49R possibly damaging Het
Arhgap44 T C 11: 65,074,534 K34R probably damaging Het
Arsg A G 11: 109,525,446 Y173C possibly damaging Het
Arv1 C A 8: 124,730,878 L56M probably damaging Het
B3glct A T 5: 149,732,685 R194S probably benign Het
Ccdc39 T A 3: 33,832,568 Y297F probably benign Het
Dnah8 A G 17: 30,717,880 E1552G probably damaging Het
Dock5 T G 14: 67,839,543 probably benign Het
Egr2 G A 10: 67,540,024 G92D probably damaging Het
Evi2a G A 11: 79,527,664 S40L probably benign Het
Fshr A G 17: 89,001,889 probably null Het
Glce G A 9: 62,070,539 T21I probably damaging Het
Gucy2d C A 7: 98,443,548 S44* probably null Het
Heatr5a T C 12: 51,916,075 E1014G possibly damaging Het
Hnrnpll A T 17: 80,044,504 H337Q probably benign Het
Jhy G T 9: 40,944,867 probably null Het
Kat5 A T 19: 5,603,875 M427K probably benign Het
Lama5 G A 2: 180,188,587 P1876S probably damaging Het
Lamc3 C A 2: 31,887,655 H104Q probably damaging Het
Lcn5 T C 2: 25,658,450 Y84H probably damaging Het
Mageb18 T A X: 92,120,266 K123N probably damaging Het
Mfhas1 T A 8: 35,589,344 N324K probably damaging Het
Nagk T C 6: 83,799,370 F189S probably damaging Het
Nbas T A 12: 13,560,962 M2218K probably benign Het
Nuak2 C A 1: 132,332,112 P543T probably benign Het
Olfr1323 C T X: 50,009,828 M136I possibly damaging Het
Olfr699 C T 7: 106,790,823 M59I probably benign Het
Prl8a9 T C 13: 27,559,453 Y123C probably damaging Het
Rapgef5 T C 12: 117,719,132 F220S probably damaging Het
Rexo4 T C 2: 26,962,518 D135G probably benign Het
Slc39a10 C T 1: 46,835,209 R311Q probably damaging Het
Slfn10-ps A T 11: 83,032,190 noncoding transcript Het
Tfrc A G 16: 32,630,194 E717G probably benign Het
Tg T A 15: 66,692,374 N1141K possibly damaging Het
Topors T C 4: 40,261,467 S606G probably damaging Het
Usp11 A G X: 20,719,352 D827G probably benign Het
Vmn2r1 A T 3: 64,104,709 M664L probably benign Het
Vmn2r14 A T 5: 109,220,409 M239K possibly damaging Het
Xiap T C X: 42,099,827 probably benign Het
Zfp2 G A 11: 50,901,004 P71S probably benign Het
Zhx1 T A 15: 58,052,868 T661S probably benign Het
Other mutations in Dnajb9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01490:Dnajb9 APN 12 44207086 missense possibly damaging 0.72
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
R8213:Dnajb9 UTSW 12 44207133 missense probably benign 0.18
X0067:Dnajb9 UTSW 12 44207333 missense possibly damaging 0.63
Posted On2015-04-16