Incidental Mutation 'IGL03310:Dnaja2'
ID 416512
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnaja2
Ensembl Gene ENSMUSG00000031701
Gene Name DnaJ heat shock protein family (Hsp40) member A2
Synonyms HIRIP4, PRO3015, mDj3, 2010206B19Rik, DNJ3, 1500017M13Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.760) question?
Stock # IGL03310
Quality Score
Status
Chromosome 8
Chromosomal Location 86264262-86281973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86275534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 140 (N140K)
Ref Sequence ENSEMBL: ENSMUSP00000034138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034138]
AlphaFold Q9QYJ0
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: 70,685,371 (GRCm39) R749C probably damaging Het
Atp9a A G 2: 168,481,879 (GRCm39) F872L probably damaging Het
Cacna1e A C 1: 154,317,997 (GRCm39) Y1462D probably damaging Het
Ccna1 T C 3: 54,958,041 (GRCm39) T7A probably benign Het
Ces1d A G 8: 93,901,816 (GRCm39) probably benign Het
Cmtm8 A T 9: 114,619,794 (GRCm39) V117D probably benign Het
Cnot1 A G 8: 96,462,308 (GRCm39) probably benign Het
Col24a1 A T 3: 145,019,744 (GRCm39) probably benign Het
Crispld1 T C 1: 17,815,701 (GRCm39) probably benign Het
Fktn A T 4: 53,720,120 (GRCm39) K6* probably null Het
Fryl C A 5: 73,293,659 (GRCm39) probably benign Het
Gm5117 T A 8: 32,228,836 (GRCm39) noncoding transcript Het
Gucy2c A C 6: 136,728,044 (GRCm39) S319R probably benign Het
Helz2 G A 2: 180,873,597 (GRCm39) A2299V probably benign Het
Hivep2 T C 10: 14,019,411 (GRCm39) S2061P probably damaging Het
Irx4 A G 13: 73,415,850 (GRCm39) N213S possibly damaging Het
Mark3 A G 12: 111,614,104 (GRCm39) T649A probably benign Het
Nav3 C T 10: 109,660,433 (GRCm39) probably null Het
Npr1 C T 3: 90,363,298 (GRCm39) E861K probably benign Het
Or52a5 A C 7: 103,426,634 (GRCm39) V306G probably benign Het
Or5a3 T C 19: 12,400,291 (GRCm39) V206A probably benign Het
Pcdhb10 C T 18: 37,545,374 (GRCm39) T150I probably damaging Het
Sdk2 A G 11: 113,684,151 (GRCm39) C2009R possibly damaging Het
Trgv7 A G 13: 19,362,664 (GRCm39) probably benign Het
Ttc16 T C 2: 32,652,409 (GRCm39) probably benign Het
Ttc39b T A 4: 83,165,896 (GRCm39) Y230F probably benign Het
Ubr1 A T 2: 120,694,898 (GRCm39) I1678N probably damaging Het
Other mutations in Dnaja2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Dnaja2 APN 8 86,281,866 (GRCm39) missense probably damaging 0.98
IGL01479:Dnaja2 APN 8 86,280,580 (GRCm39) missense probably damaging 1.00
IGL01722:Dnaja2 APN 8 86,279,908 (GRCm39) missense probably benign 0.35
IGL01946:Dnaja2 APN 8 86,273,329 (GRCm39) missense probably damaging 1.00
R0689:Dnaja2 UTSW 8 86,273,347 (GRCm39) splice site probably benign
R1350:Dnaja2 UTSW 8 86,266,717 (GRCm39) missense probably damaging 1.00
R2332:Dnaja2 UTSW 8 86,266,765 (GRCm39) missense probably damaging 1.00
R3105:Dnaja2 UTSW 8 86,281,857 (GRCm39) missense probably damaging 1.00
R3693:Dnaja2 UTSW 8 86,273,249 (GRCm39) missense probably damaging 0.99
R3787:Dnaja2 UTSW 8 86,267,015 (GRCm39) missense probably damaging 1.00
R4803:Dnaja2 UTSW 8 86,280,029 (GRCm39) missense probably damaging 1.00
R5109:Dnaja2 UTSW 8 86,279,887 (GRCm39) missense possibly damaging 0.51
R5428:Dnaja2 UTSW 8 86,266,804 (GRCm39) missense probably benign
R5576:Dnaja2 UTSW 8 86,266,033 (GRCm39) missense possibly damaging 0.95
R7055:Dnaja2 UTSW 8 86,275,303 (GRCm39) missense probably benign 0.00
R7385:Dnaja2 UTSW 8 86,265,982 (GRCm39) missense probably benign
R7662:Dnaja2 UTSW 8 86,265,905 (GRCm39) missense probably benign 0.17
R7693:Dnaja2 UTSW 8 86,266,939 (GRCm39) missense probably damaging 1.00
R8049:Dnaja2 UTSW 8 86,265,876 (GRCm39) missense possibly damaging 0.63
R9653:Dnaja2 UTSW 8 86,265,982 (GRCm39) missense probably benign
Z1177:Dnaja2 UTSW 8 86,266,700 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02