Incidental Mutation 'IGL01490:Dnajb2'
ID88823
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajb2
Ensembl Gene ENSMUSG00000026203
Gene NameDnaJ heat shock protein family (Hsp40) member B2
SynonymsmDj8, 2700059H22Rik, Dnajb10
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01490
Quality Score
Status
Chromosome1
Chromosomal Location75236406-75245692 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75236890 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 3 (S3P)
Ref Sequence ENSEMBL: ENSMUSP00000140566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055223] [ENSMUST00000082158] [ENSMUST00000180101] [ENSMUST00000185403] [ENSMUST00000185654] [ENSMUST00000187058] [ENSMUST00000188290] [ENSMUST00000188346] [ENSMUST00000188931] [ENSMUST00000191271]
Predicted Effect probably damaging
Transcript: ENSMUST00000055223
AA Change: S3P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052520
Gene: ENSMUSG00000026203
AA Change: S3P

DomainStartEndE-ValueType
DnaJ 2 61 1.46e-29 SMART
low complexity region 67 78 N/A INTRINSIC
low complexity region 119 148 N/A INTRINSIC
UIM 189 208 3.05e1 SMART
UIM 232 251 5.19e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000082158
AA Change: S3P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080796
Gene: ENSMUSG00000026203
AA Change: S3P

DomainStartEndE-ValueType
DnaJ 2 61 2.1e-30 SMART
low complexity region 85 96 N/A INTRINSIC
low complexity region 137 166 N/A INTRINSIC
UIM 207 226 3.05e1 SMART
UIM 250 269 5.19e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180101
Predicted Effect probably damaging
Transcript: ENSMUST00000185403
AA Change: S3P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139982
Gene: ENSMUSG00000026203
AA Change: S3P

DomainStartEndE-ValueType
DnaJ 2 61 2.8e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185654
AA Change: S3P

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140456
Gene: ENSMUSG00000026203
AA Change: S3P

DomainStartEndE-ValueType
DnaJ 2 61 1.3e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186600
Predicted Effect probably damaging
Transcript: ENSMUST00000187058
AA Change: S3P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140637
Gene: ENSMUSG00000026203
AA Change: S3P

DomainStartEndE-ValueType
DnaJ 2 61 1.46e-29 SMART
low complexity region 67 78 N/A INTRINSIC
low complexity region 119 148 N/A INTRINSIC
UIM 189 208 3.05e1 SMART
UIM 232 251 5.19e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188290
AA Change: S3P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140634
Gene: ENSMUSG00000026203
AA Change: S3P

DomainStartEndE-ValueType
DnaJ 2 61 2.1e-30 SMART
low complexity region 85 96 N/A INTRINSIC
low complexity region 137 166 N/A INTRINSIC
UIM 207 226 3.05e1 SMART
UIM 250 269 5.19e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188346
AA Change: S3P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140588
Gene: ENSMUSG00000026203
AA Change: S3P

DomainStartEndE-ValueType
DnaJ 2 61 2.1e-30 SMART
low complexity region 85 96 N/A INTRINSIC
low complexity region 137 166 N/A INTRINSIC
UIM 207 226 3.05e1 SMART
UIM 250 269 5.19e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188628
Predicted Effect probably damaging
Transcript: ENSMUST00000188931
AA Change: S3P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140566
Gene: ENSMUSG00000026203
AA Change: S3P

DomainStartEndE-ValueType
DnaJ 2 61 2.1e-30 SMART
low complexity region 85 96 N/A INTRINSIC
low complexity region 137 166 N/A INTRINSIC
UIM 207 226 3.05e1 SMART
UIM 250 269 5.19e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190379
Predicted Effect probably benign
Transcript: ENSMUST00000190445
Predicted Effect probably benign
Transcript: ENSMUST00000191271
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 almost exclusively expressed in the brain, mainly in the neuronal layers. It encodes a protein that shows sequence similarity to bacterial DnaJ protein and the yeast homologs. In bacteria, this protein is implicated in protein folding and protein complex dissociation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]
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
Dnajb9 A T 12: 44,207,086 S179R possibly 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 Dnajb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0494:Dnajb2 UTSW 1 75239634 unclassified probably benign
R2118:Dnajb2 UTSW 1 75237477 missense probably damaging 1.00
R3837:Dnajb2 UTSW 1 75241480 critical splice donor site probably null
R3838:Dnajb2 UTSW 1 75241480 critical splice donor site probably null
R3839:Dnajb2 UTSW 1 75241480 critical splice donor site probably null
R4105:Dnajb2 UTSW 1 75236899 nonsense probably null
R4108:Dnajb2 UTSW 1 75236899 nonsense probably null
R4858:Dnajb2 UTSW 1 75243554 missense possibly damaging 0.96
R7115:Dnajb2 UTSW 1 75243662 missense
Posted On2013-11-18