Incidental Mutation 'IGL03310:Dnaja2'
ID416512
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnaja2
Ensembl Gene ENSMUSG00000031701
Gene NameDnaJ heat shock protein family (Hsp40) member A2
Synonyms2010206B19Rik, mDj3, HIRIP4, 1500017M13Rik, PRO3015, DNJ3
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.674) question?
Stock #IGL03310
Quality Score
Status
Chromosome8
Chromosomal Location85537633-85555344 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 85548905 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 140 (N140K)
Ref Sequence ENSEMBL: ENSMUSP00000034138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034138]
Predicted Effect probably benign
Transcript: ENSMUST00000034138
AA Change: N140K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000034138
Gene: ENSMUSG00000031701
AA Change: N140K

DomainStartEndE-ValueType
DnaJ 7 62 8.53e-31 SMART
low complexity region 70 83 N/A INTRINSIC
low complexity region 101 113 N/A INTRINSIC
Pfam:DnaJ_C 116 338 8.5e-36 PFAM
Pfam:DnaJ_CXXCXGXG 143 209 3.4e-18 PFAM
low complexity region 393 403 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211630
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain. The product of this gene works as a cochaperone of Hsp70s in protein folding and mitochondrial protein import in vitro. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 C T 9: 70,778,089 R749C probably damaging Het
Atp9a A G 2: 168,639,959 F872L probably damaging Het
Cacna1e A C 1: 154,442,251 Y1462D probably damaging Het
Ccna1 T C 3: 55,050,620 T7A probably benign Het
Ces1d A G 8: 93,175,188 probably benign Het
Cmtm8 A T 9: 114,790,726 V117D probably benign Het
Cnot1 A G 8: 95,735,680 probably benign Het
Col24a1 A T 3: 145,313,983 probably benign Het
Crispld1 T C 1: 17,745,477 probably benign Het
Fktn A T 4: 53,720,120 K6* probably null Het
Fryl C A 5: 73,136,316 probably benign Het
Gm5117 T A 8: 31,738,808 noncoding transcript Het
Gucy2c A C 6: 136,751,046 S319R probably benign Het
Helz2 G A 2: 181,231,804 A2299V probably benign Het
Hivep2 T C 10: 14,143,667 S2061P probably damaging Het
Irx4 A G 13: 73,267,731 N213S possibly damaging Het
Mark3 A G 12: 111,647,670 T649A probably benign Het
Nav3 C T 10: 109,824,572 probably null Het
Npr1 C T 3: 90,455,991 E861K probably benign Het
Olfr1441 T C 19: 12,422,927 V206A probably benign Het
Olfr68 A C 7: 103,777,427 V306G probably benign Het
Pcdhb10 C T 18: 37,412,321 T150I probably damaging Het
Sdk2 A G 11: 113,793,325 C2009R possibly damaging Het
Tcrg-V7 A G 13: 19,178,494 probably benign Het
Ttc16 T C 2: 32,762,397 probably benign Het
Ttc39b T A 4: 83,247,659 Y230F probably benign Het
Ubr1 A T 2: 120,864,417 I1678N probably damaging Het
Other mutations in Dnaja2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Dnaja2 APN 8 85555237 missense probably damaging 0.98
IGL01479:Dnaja2 APN 8 85553951 missense probably damaging 1.00
IGL01722:Dnaja2 APN 8 85553279 missense probably benign 0.35
IGL01946:Dnaja2 APN 8 85546700 missense probably damaging 1.00
R0689:Dnaja2 UTSW 8 85546718 splice site probably benign
R1350:Dnaja2 UTSW 8 85540088 missense probably damaging 1.00
R2332:Dnaja2 UTSW 8 85540136 missense probably damaging 1.00
R3105:Dnaja2 UTSW 8 85555228 missense probably damaging 1.00
R3693:Dnaja2 UTSW 8 85546620 missense probably damaging 0.99
R3787:Dnaja2 UTSW 8 85540386 missense probably damaging 1.00
R4803:Dnaja2 UTSW 8 85553400 missense probably damaging 1.00
R5109:Dnaja2 UTSW 8 85553258 missense possibly damaging 0.51
R5428:Dnaja2 UTSW 8 85540175 missense probably benign
R5576:Dnaja2 UTSW 8 85539404 missense possibly damaging 0.95
R7055:Dnaja2 UTSW 8 85548674 missense probably benign 0.00
R7385:Dnaja2 UTSW 8 85539353 missense probably benign
R7662:Dnaja2 UTSW 8 85539276 missense probably benign 0.17
R7693:Dnaja2 UTSW 8 85540310 missense probably damaging 1.00
R8049:Dnaja2 UTSW 8 85539247 missense not run
Z1177:Dnaja2 UTSW 8 85540071 missense not run
Posted On2016-08-02