Incidental Mutation 'IGL02795:Dnaja3'
ID 359970
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnaja3
Ensembl Gene ENSMUSG00000004069
Gene Name DnaJ heat shock protein family (Hsp40) member A3
Synonyms 1810053A11Rik, 1200003J13Rik, Tid-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02795
Quality Score
Chromosome 16
Chromosomal Location 4639989-4707695 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 4690073 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060067] [ENSMUST00000115854] [ENSMUST00000229529]
AlphaFold Q99M87
Predicted Effect probably benign
Transcript: ENSMUST00000060067
SMART Domains Protein: ENSMUSP00000053842
Gene: ENSMUSG00000004069

low complexity region 20 36 N/A INTRINSIC
DnaJ 92 150 4.57e-31 SMART
Pfam:DnaJ_C 209 413 4.4e-23 PFAM
Pfam:DnaJ_CXXCXGXG 236 296 2.4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115854
SMART Domains Protein: ENSMUSP00000111520
Gene: ENSMUSG00000004069

low complexity region 20 36 N/A INTRINSIC
DnaJ 92 150 4.57e-31 SMART
Pfam:DnaJ_CXXCXGXG 236 296 3.9e-14 PFAM
Pfam:CTDII 345 423 1.5e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144815
Predicted Effect probably benign
Transcript: ENSMUST00000229529
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 encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimeric complex assembly. The encoded protein is localized to mitochondria and mediates several cellular processes including proliferation, survival and apoptotic signal transduction. The encoded protein also plays a critical role in tumor suppression through interactions with oncogenic proteins including ErbB2 and the p53 tumor suppressor protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Early embryonic development of homozygous null embryos is disrupted. Blastocysts develop and implant but die afterwards. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,288,748 (GRCm38) L1391P probably damaging Het
Abcc3 G A 11: 94,361,642 (GRCm38) probably benign Het
Acvr1 A G 2: 58,462,952 (GRCm38) I332T probably damaging Het
Atp8a2 C T 14: 60,033,742 (GRCm38) V247M probably damaging Het
Btn1a1 T C 13: 23,460,616 (GRCm38) probably null Het
Btnl9 A T 11: 49,174,867 (GRCm38) probably benign Het
Dbx1 T A 7: 49,636,577 (GRCm38) I47F probably benign Het
Dnmt1 T C 9: 20,927,111 (GRCm38) S220G probably benign Het
Dock9 A T 14: 121,639,978 (GRCm38) M451K probably benign Het
Eml3 A G 19: 8,933,778 (GRCm38) Y257C probably benign Het
Fbxw19 C A 9: 109,495,818 (GRCm38) M10I possibly damaging Het
Flg2 C T 3: 93,203,613 (GRCm38) R983W unknown Het
Galnt5 C A 2: 58,027,871 (GRCm38) P707H probably damaging Het
Gba2 G T 4: 43,578,331 (GRCm38) P6Q probably damaging Het
Gm13199 A G 2: 5,862,673 (GRCm38) probably benign Het
Gpr45 C T 1: 43,032,493 (GRCm38) R99C possibly damaging Het
Hecw1 G A 13: 14,322,517 (GRCm38) S302L probably damaging Het
Hrg T C 16: 22,957,553 (GRCm38) probably benign Het
Kdelc2 A G 9: 53,392,105 (GRCm38) D99G probably damaging Het
Lama1 A G 17: 67,738,894 (GRCm38) probably null Het
Lgr4 T C 2: 110,008,210 (GRCm38) probably benign Het
Lrrc9 C T 12: 72,478,768 (GRCm38) T830M probably damaging Het
Mdga2 T C 12: 66,689,432 (GRCm38) T341A probably benign Het
Mms19 C T 19: 41,952,406 (GRCm38) probably null Het
Nectin1 A G 9: 43,803,552 (GRCm38) S362G probably benign Het
Nlrc3 G T 16: 3,965,285 (GRCm38) H87N probably damaging Het
Oit1 T A 14: 8,355,497 (GRCm38) M113L probably benign Het
Olfr1018 T A 2: 85,823,512 (GRCm38) C180* probably null Het
Olfr142 A G 2: 90,252,562 (GRCm38) L142P probably damaging Het
Olfr183 G T 16: 59,000,277 (GRCm38) L197F possibly damaging Het
Olfr23 G A 11: 73,940,929 (GRCm38) V228I probably benign Het
Olfr243 T A 7: 103,716,883 (GRCm38) F96L probably benign Het
Pcsk1 G T 13: 75,112,620 (GRCm38) G321C probably damaging Het
Prrc2c G T 1: 162,714,299 (GRCm38) P374T probably benign Het
Rusc1 A T 3: 89,091,950 (GRCm38) L175Q probably damaging Het
Ryr2 T C 13: 11,595,190 (GRCm38) N4250S probably benign Het
Scara5 A C 14: 65,730,680 (GRCm38) N134T possibly damaging Het
Sema4d T C 13: 51,703,411 (GRCm38) K595R probably benign Het
Serpinb6a A C 13: 33,931,593 (GRCm38) L15R probably damaging Het
Setdb1 A T 3: 95,327,373 (GRCm38) N1006K probably damaging Het
Slc18a2 G A 19: 59,274,490 (GRCm38) probably benign Het
Slc22a30 C T 19: 8,400,895 (GRCm38) C139Y probably damaging Het
Slc25a27 T A 17: 43,647,112 (GRCm38) Y269F probably damaging Het
Slc9c1 A T 16: 45,575,419 (GRCm38) D611V probably benign Het
Spag6 G T 2: 18,733,083 (GRCm38) V255F probably benign Het
St5 T C 7: 109,556,364 (GRCm38) Y393C probably damaging Het
Svep1 C A 4: 58,123,223 (GRCm38) G698W probably damaging Het
Syne2 T C 12: 75,966,549 (GRCm38) L2839P probably damaging Het
Tfb2m T C 1: 179,545,959 (GRCm38) E58G possibly damaging Het
Trim24 A T 6: 37,919,389 (GRCm38) E260D probably damaging Het
Ugt2b1 T A 5: 86,917,701 (GRCm38) D493V probably damaging Het
Vmn1r27 A G 6: 58,215,302 (GRCm38) V189A possibly damaging Het
Vmn2r91 A G 17: 18,085,277 (GRCm38) Q74R probably benign Het
Vps25 A G 11: 101,256,090 (GRCm38) Y64C probably damaging Het
Xirp2 G A 2: 67,509,136 (GRCm38) G574S probably damaging Het
Ythdc2 A G 18: 44,837,438 (GRCm38) E273G possibly damaging Het
Other mutations in Dnaja3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Dnaja3 APN 16 4,694,445 (GRCm38) missense probably damaging 1.00
IGL01531:Dnaja3 APN 16 4,694,404 (GRCm38) missense probably damaging 1.00
IGL01607:Dnaja3 APN 16 4,693,395 (GRCm38) missense probably damaging 1.00
IGL01981:Dnaja3 APN 16 4,701,169 (GRCm38) missense probably damaging 1.00
IGL02312:Dnaja3 APN 16 4,694,436 (GRCm38) missense probably benign 0.02
IGL02473:Dnaja3 APN 16 4,701,240 (GRCm38) nonsense probably null
R1334:Dnaja3 UTSW 16 4,699,794 (GRCm38) missense probably damaging 1.00
R1700:Dnaja3 UTSW 16 4,684,165 (GRCm38) missense probably null 0.02
R1733:Dnaja3 UTSW 16 4,684,165 (GRCm38) missense probably null 0.02
R1854:Dnaja3 UTSW 16 4,697,269 (GRCm38) missense probably damaging 1.00
R2330:Dnaja3 UTSW 16 4,690,016 (GRCm38) missense probably benign 0.01
R4232:Dnaja3 UTSW 16 4,699,871 (GRCm38) missense possibly damaging 0.80
R4357:Dnaja3 UTSW 16 4,699,867 (GRCm38) missense probably damaging 0.96
R4434:Dnaja3 UTSW 16 4,689,995 (GRCm38) nonsense probably null
R5072:Dnaja3 UTSW 16 4,696,425 (GRCm38) missense probably damaging 0.96
R5073:Dnaja3 UTSW 16 4,696,425 (GRCm38) missense probably damaging 0.96
R5074:Dnaja3 UTSW 16 4,696,425 (GRCm38) missense probably damaging 0.96
R5160:Dnaja3 UTSW 16 4,684,288 (GRCm38) missense probably benign 0.01
R5174:Dnaja3 UTSW 16 4,684,297 (GRCm38) missense probably benign
R5347:Dnaja3 UTSW 16 4,694,482 (GRCm38) missense possibly damaging 0.78
R7106:Dnaja3 UTSW 16 4,705,934 (GRCm38) missense probably benign 0.13
R7214:Dnaja3 UTSW 16 4,701,182 (GRCm38) missense possibly damaging 0.61
R7673:Dnaja3 UTSW 16 4,694,464 (GRCm38) missense probably benign 0.25
R8069:Dnaja3 UTSW 16 4,684,267 (GRCm38) missense probably benign
R8154:Dnaja3 UTSW 16 4,699,876 (GRCm38) missense possibly damaging 0.53
R8477:Dnaja3 UTSW 16 4,687,348 (GRCm38) missense probably null 0.68
R8811:Dnaja3 UTSW 16 4,696,519 (GRCm38) missense probably benign 0.31
R9128:Dnaja3 UTSW 16 4,702,300 (GRCm38) missense possibly damaging 0.83
Posted On 2015-12-18