Incidental Mutation 'R8049:Dnaja2'
ID 618933
Institutional Source Beutler Lab
Gene Symbol Dnaja2
Ensembl Gene ENSMUSG00000031701
Gene Name DnaJ heat shock protein family (Hsp40) member A2
Synonyms HIRIP4, PRO3015, mDj3, 2010206B19Rik, DNJ3, 1500017M13Rik
MMRRC Submission 067486-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.760) question?
Stock # R8049 (G1)
Quality Score 201.009
Status Validated
Chromosome 8
Chromosomal Location 86264262-86281973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86265876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 403 (H403L)
Ref Sequence ENSEMBL: ENSMUSP00000034138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034138]
AlphaFold Q9QYJ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000034138
AA Change: H403L

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034138
Gene: ENSMUSG00000031701
AA Change: H403L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (55/55)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A T 16: 88,555,992 (GRCm39) T69S probably benign Het
5730455P16Rik A G 11: 80,268,798 (GRCm39) S4P possibly damaging Het
Abca13 T A 11: 9,241,867 (GRCm39) N1243K probably damaging Het
Adgrg6 A T 10: 14,303,943 (GRCm39) S824T probably benign Het
Armh4 G T 14: 50,010,993 (GRCm39) A238E probably damaging Het
C3ar1 T A 6: 122,827,059 (GRCm39) Y386F probably damaging Het
Cdc14a T C 3: 116,087,577 (GRCm39) N527S probably benign Het
Cfap69 A T 5: 5,669,085 (GRCm39) probably benign Het
Col7a1 C T 9: 108,804,631 (GRCm39) P2279S unknown Het
Crb2 G A 2: 37,683,252 (GRCm39) G918D probably benign Het
Dcn C A 10: 97,349,479 (GRCm39) N250K probably damaging Het
Dctn5 G A 7: 121,732,466 (GRCm39) probably benign Het
Ddx55 T C 5: 124,694,821 (GRCm39) V83A probably damaging Het
Dpy19l4 T C 4: 11,303,982 (GRCm39) I143V probably benign Het
Efna5 G T 17: 62,957,977 (GRCm39) T93K probably benign Het
Eml6 A G 11: 29,843,201 (GRCm39) V171A possibly damaging Het
Esyt1 C G 10: 128,347,955 (GRCm39) V942L probably benign Het
Fam184a C A 10: 53,509,802 (GRCm39) E126* probably null Het
Fam78a C A 2: 31,973,035 (GRCm39) probably benign Het
Fat2 A G 11: 55,202,892 (GRCm39) Y61H probably benign Het
Fbxw14 A T 9: 109,105,211 (GRCm39) M318K probably damaging Het
Gm14295 A G 2: 176,500,871 (GRCm39) I120M probably benign Het
Gm14403 T A 2: 177,200,311 (GRCm39) Y86N probably benign Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gpr55 T C 1: 85,869,419 (GRCm39) D54G probably benign Het
Gtf2b T G 3: 142,483,975 (GRCm39) S50A probably damaging Het
Ifit3 A T 19: 34,565,480 (GRCm39) E342V possibly damaging Het
Iqgap3 T A 3: 88,011,609 (GRCm39) I798N probably damaging Het
Kplce A T 3: 92,776,202 (GRCm39) Y160* probably null Het
Lpin1 T C 12: 16,613,685 (GRCm39) D494G Het
Lsm12 T C 11: 102,056,235 (GRCm39) E149G possibly damaging Het
Mtfr2 T C 10: 20,228,603 (GRCm39) S50P possibly damaging Het
Ndnf T C 6: 65,680,414 (GRCm39) M231T probably benign Het
Noc3l A T 19: 38,800,873 (GRCm39) V203E probably benign Het
Or1e27-ps1 G T 11: 73,555,988 (GRCm39) K184N possibly damaging Het
Or52h2 C A 7: 103,839,017 (GRCm39) L132F probably damaging Het
Or5c1 A T 2: 37,222,346 (GRCm39) T196S probably damaging Het
Or9r7 A T 10: 129,962,469 (GRCm39) Y152* probably null Het
Pcnx1 C T 12: 81,965,593 (GRCm39) R59* probably null Het
Pde6b C T 5: 108,573,118 (GRCm39) P496L probably benign Het
Plppr1 A T 4: 49,300,942 (GRCm39) M92L probably benign Het
Pphln1-ps1 C T 16: 13,495,623 (GRCm39) R241C probably damaging Het
Ptprk C G 10: 28,259,565 (GRCm39) S335C possibly damaging Het
Rars2 T A 4: 34,650,217 (GRCm39) M334K probably benign Het
Rasl10a A T 11: 5,009,823 (GRCm39) I124F probably damaging Het
Rgs12 T A 5: 35,183,374 (GRCm39) V1007E possibly damaging Het
Rnf122 T A 8: 31,618,608 (GRCm39) C119S probably damaging Het
Scn11a T A 9: 119,584,149 (GRCm39) I1489F probably damaging Het
Setd6 C A 8: 96,443,316 (GRCm39) S186R probably benign Het
Tex19.1 A G 11: 121,038,148 (GRCm39) T169A probably benign Het
Th G A 7: 142,447,860 (GRCm39) P408S probably damaging Het
Trappc13 T C 13: 104,281,052 (GRCm39) M337V probably benign Het
Treml2 A T 17: 48,609,762 (GRCm39) K65* probably null Het
Ubxn4 T C 1: 128,183,933 (GRCm39) S98P probably damaging Het
Wrnip1 A G 13: 33,005,960 (GRCm39) S601G probably benign Het
Zfp1006 A T 8: 129,946,555 (GRCm39) L90H 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
IGL03310:Dnaja2 APN 8 86,275,534 (GRCm39) missense probably benign 0.00
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
R9653:Dnaja2 UTSW 8 86,265,982 (GRCm39) missense probably benign
Z1177:Dnaja2 UTSW 8 86,266,700 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATACACTCTGTGGATACGATACC -3'
(R):5'- TTTGCTCATTTGTGCACACATG -3'

Sequencing Primer
(F):5'- CTCTGTGGATACGATACCAATTTTAG -3'
(R):5'- CATCTCCTGTTTTTGTTTCATGAAGG -3'
Posted On 2020-01-23