Incidental Mutation 'IGL01490:Dnajb2'
ID 88823
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajb2
Ensembl Gene ENSMUSG00000026203
Gene Name DnaJ heat shock protein family (Hsp40) member B2
Synonyms mDj8, Dnajb10, 2700059H22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01490
Quality Score
Status
Chromosome 1
Chromosomal Location 75213050-75222336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75213534 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000188931] [ENSMUST00000188346] [ENSMUST00000191271]
AlphaFold Q9QYI5
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: 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 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: ENSMUST00000190379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188628
Predicted Effect probably benign
Transcript: ENSMUST00000191271
Predicted Effect probably benign
Transcript: ENSMUST00000190445
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
Abca2 A G 2: 25,336,023 (GRCm39) Y2131C probably damaging Het
Ano6 T A 15: 95,846,291 (GRCm39) S510T probably benign Het
Asb16 A T 11: 102,167,575 (GRCm39) N314Y probably damaging Het
Atp6v0b G A 4: 117,742,303 (GRCm39) Q150* probably null Het
Chct1 A G 11: 85,069,138 (GRCm39) D52G probably damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cmklr2 T C 1: 63,222,455 (GRCm39) Y260C probably damaging Het
Crim1 A G 17: 78,642,725 (GRCm39) D481G possibly damaging Het
Dnajb9 A T 12: 44,253,869 (GRCm39) S179R possibly damaging Het
Dock2 A T 11: 34,596,608 (GRCm39) I416N probably damaging Het
Dock7 G T 4: 98,833,355 (GRCm39) probably benign Het
Eif6 T C 2: 155,668,102 (GRCm39) I46V probably benign Het
Fcgr1 T C 3: 96,191,686 (GRCm39) D374G probably benign Het
Gatad2b A G 3: 90,259,385 (GRCm39) I374V possibly damaging Het
Gfpt2 T C 11: 49,717,954 (GRCm39) probably benign Het
H2-M10.2 G T 17: 36,596,377 (GRCm39) T156K probably damaging Het
Il20rb T A 9: 100,355,207 (GRCm39) I79F probably damaging Het
Kcnip3 C T 2: 127,352,799 (GRCm39) R44H probably benign Het
Lama1 A T 17: 68,057,579 (GRCm39) D551V possibly damaging Het
Mex3b C A 7: 82,519,035 (GRCm39) P450Q possibly damaging Het
Mmp20 T C 9: 7,628,330 (GRCm39) L26P probably benign Het
Msh3 G A 13: 92,436,813 (GRCm39) T499M probably damaging Het
Myo18b T C 5: 112,957,566 (GRCm39) S1466G possibly damaging Het
Myom3 A G 4: 135,538,089 (GRCm39) R1324G possibly damaging Het
Nxph3 A G 11: 95,401,919 (GRCm39) I165T possibly damaging Het
Prex2 G A 1: 11,254,769 (GRCm39) probably null Het
Ptpn6 T A 6: 124,705,307 (GRCm39) E208V probably damaging Het
Qpct T C 17: 79,397,169 (GRCm39) V354A probably benign Het
Rfx4 A G 10: 84,676,715 (GRCm39) I108V possibly damaging Het
Tmem67 A G 4: 12,057,422 (GRCm39) probably benign Het
Trappc12 A T 12: 28,796,914 (GRCm39) I206N probably damaging Het
Vmn1r173 A T 7: 23,402,132 (GRCm39) K122N probably benign Het
Wdr35 G T 12: 9,027,381 (GRCm39) G54V probably damaging Het
Zfyve26 A T 12: 79,291,147 (GRCm39) C2153S probably damaging Het
Other mutations in Dnajb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0494:Dnajb2 UTSW 1 75,216,278 (GRCm39) unclassified probably benign
R2118:Dnajb2 UTSW 1 75,214,121 (GRCm39) missense probably damaging 1.00
R3837:Dnajb2 UTSW 1 75,218,124 (GRCm39) critical splice donor site probably null
R3838:Dnajb2 UTSW 1 75,218,124 (GRCm39) critical splice donor site probably null
R3839:Dnajb2 UTSW 1 75,218,124 (GRCm39) critical splice donor site probably null
R4105:Dnajb2 UTSW 1 75,213,543 (GRCm39) nonsense probably null
R4108:Dnajb2 UTSW 1 75,213,543 (GRCm39) nonsense probably null
R4858:Dnajb2 UTSW 1 75,220,198 (GRCm39) missense possibly damaging 0.96
R7115:Dnajb2 UTSW 1 75,220,306 (GRCm39) missense
R7960:Dnajb2 UTSW 1 75,218,055 (GRCm39) missense
R8248:Dnajb2 UTSW 1 75,220,226 (GRCm39) missense
R8512:Dnajb2 UTSW 1 75,218,075 (GRCm39) missense
R8537:Dnajb2 UTSW 1 75,216,242 (GRCm39) missense probably damaging 1.00
R9066:Dnajb2 UTSW 1 75,217,874 (GRCm39) missense
Posted On 2013-11-18