Incidental Mutation 'IGL01981:Dnaja3'
ID 183494
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, Tid-1, 1200003J13Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01981
Quality Score
Status
Chromosome 16
Chromosomal Location 4501934-4525559 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4519033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 325 (I325F)
Ref Sequence ENSEMBL: ENSMUSP00000155588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060067] [ENSMUST00000115854] [ENSMUST00000229529]
AlphaFold Q99M87
Predicted Effect probably damaging
Transcript: ENSMUST00000060067
AA Change: I376F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053842
Gene: ENSMUSG00000004069
AA Change: I376F

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000115854
AA Change: I376F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111520
Gene: ENSMUSG00000004069
AA Change: I376F

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000229529
AA Change: I325F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A C 7: 27,337,499 (GRCm39) D417A probably benign Het
Ap1b1 T A 11: 4,969,336 (GRCm39) S231T possibly damaging Het
Arhgap31 G A 16: 38,421,935 (GRCm39) T1377I probably damaging Het
Cdkl3 A G 11: 51,895,896 (GRCm39) T48A probably benign Het
Chd3 T C 11: 69,251,501 (GRCm39) Y510C probably damaging Het
Chml A G 1: 175,515,751 (GRCm39) S57P probably damaging Het
Cpxm1 G T 2: 130,236,060 (GRCm39) C367* probably null Het
D930020B18Rik A G 10: 121,528,319 (GRCm39) T428A probably damaging Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Erbb3 A G 10: 128,407,519 (GRCm39) V943A probably benign Het
Fam110b A G 4: 5,799,481 (GRCm39) I300V probably benign Het
Fam193a A G 5: 34,588,537 (GRCm39) E76G probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Furin A G 7: 80,042,647 (GRCm39) L380P probably damaging Het
Fxr2 A C 11: 69,541,328 (GRCm39) I354L possibly damaging Het
Garnl3 G T 2: 32,887,741 (GRCm39) N756K probably damaging Het
Gimap1 A G 6: 48,720,258 (GRCm39) Y290C probably damaging Het
Gm5592 G A 7: 40,935,795 (GRCm39) W99* probably null Het
Hexd G T 11: 121,107,819 (GRCm39) S183I possibly damaging Het
Hmg20a C T 9: 56,384,514 (GRCm39) P95S probably damaging Het
Jhy A T 9: 40,806,842 (GRCm39) I769N probably damaging Het
Lrrd1 G T 5: 3,901,267 (GRCm39) C524F probably damaging Het
Musk C A 4: 58,296,629 (GRCm39) S76R probably damaging Het
Myom3 C T 4: 135,513,160 (GRCm39) R613* probably null Het
Naa16 T A 14: 79,618,956 (GRCm39) E172D probably benign Het
Obox6 A T 7: 15,568,846 (GRCm39) M10K possibly damaging Het
Or5al5 A T 2: 85,961,174 (GRCm39) Y278N probably benign Het
Pam C T 1: 97,762,166 (GRCm39) V700M probably damaging Het
Phf8-ps C T 17: 33,286,628 (GRCm39) G58E probably damaging Het
Pkd1l2 C A 8: 117,743,655 (GRCm39) R1978L probably benign Het
Pkhd1 T A 1: 20,593,791 (GRCm39) T1441S possibly damaging Het
Plg A G 17: 12,621,934 (GRCm39) probably benign Het
Pot1a A G 6: 25,750,099 (GRCm39) L521P probably damaging Het
Pramel14 G A 4: 143,720,924 (GRCm39) P6S probably damaging Het
Ptprj A T 2: 90,270,256 (GRCm39) V1280E probably damaging Het
Rcbtb2 T C 14: 73,402,222 (GRCm39) S136P possibly damaging Het
Rtl1 C T 12: 109,558,369 (GRCm39) E1157K possibly damaging Het
Sell G A 1: 163,893,195 (GRCm39) R137Q probably benign Het
Shisa9 A T 16: 12,062,522 (GRCm39) M248L probably benign Het
Spag17 A G 3: 99,966,149 (GRCm39) E1144G probably benign Het
Sphk2 G T 7: 45,360,157 (GRCm39) Q616K probably benign Het
Tecrl T C 5: 83,442,453 (GRCm39) T207A probably benign Het
Ubr5 T C 15: 37,996,842 (GRCm39) T1885A probably benign Het
Usp24 T C 4: 106,232,965 (GRCm39) probably benign Het
Usp32 A G 11: 84,927,350 (GRCm39) M622T probably benign Het
Vangl1 A G 3: 102,091,607 (GRCm39) F160L probably damaging Het
Vps13d T C 4: 144,813,317 (GRCm39) S3289G probably damaging Het
Wdfy4 A G 14: 32,855,673 (GRCm39) F647S probably damaging Het
Wdhd1 A G 14: 47,498,907 (GRCm39) L509P probably damaging Het
Zcchc2 A G 1: 105,955,229 (GRCm39) E640G probably damaging Het
Zfp563 T A 17: 33,324,383 (GRCm39) I326N probably benign Het
Other mutations in Dnaja3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Dnaja3 APN 16 4,512,309 (GRCm39) missense probably damaging 1.00
IGL01531:Dnaja3 APN 16 4,512,268 (GRCm39) missense probably damaging 1.00
IGL01607:Dnaja3 APN 16 4,511,259 (GRCm39) missense probably damaging 1.00
IGL02312:Dnaja3 APN 16 4,512,300 (GRCm39) missense probably benign 0.02
IGL02473:Dnaja3 APN 16 4,519,104 (GRCm39) nonsense probably null
IGL02795:Dnaja3 APN 16 4,507,937 (GRCm39) splice site probably benign
R1334:Dnaja3 UTSW 16 4,517,658 (GRCm39) missense probably damaging 1.00
R1700:Dnaja3 UTSW 16 4,502,029 (GRCm39) missense probably null 0.02
R1733:Dnaja3 UTSW 16 4,502,029 (GRCm39) missense probably null 0.02
R1854:Dnaja3 UTSW 16 4,515,133 (GRCm39) missense probably damaging 1.00
R2330:Dnaja3 UTSW 16 4,507,880 (GRCm39) missense probably benign 0.01
R4232:Dnaja3 UTSW 16 4,517,735 (GRCm39) missense possibly damaging 0.80
R4357:Dnaja3 UTSW 16 4,517,731 (GRCm39) missense probably damaging 0.96
R4434:Dnaja3 UTSW 16 4,507,859 (GRCm39) nonsense probably null
R5072:Dnaja3 UTSW 16 4,514,289 (GRCm39) missense probably damaging 0.96
R5073:Dnaja3 UTSW 16 4,514,289 (GRCm39) missense probably damaging 0.96
R5074:Dnaja3 UTSW 16 4,514,289 (GRCm39) missense probably damaging 0.96
R5160:Dnaja3 UTSW 16 4,502,152 (GRCm39) missense probably benign 0.01
R5174:Dnaja3 UTSW 16 4,502,161 (GRCm39) missense probably benign
R5347:Dnaja3 UTSW 16 4,512,346 (GRCm39) missense possibly damaging 0.78
R7106:Dnaja3 UTSW 16 4,523,798 (GRCm39) missense probably benign 0.13
R7214:Dnaja3 UTSW 16 4,519,046 (GRCm39) missense possibly damaging 0.61
R7673:Dnaja3 UTSW 16 4,512,328 (GRCm39) missense probably benign 0.25
R8069:Dnaja3 UTSW 16 4,502,131 (GRCm39) missense probably benign
R8154:Dnaja3 UTSW 16 4,517,740 (GRCm39) missense possibly damaging 0.53
R8477:Dnaja3 UTSW 16 4,505,212 (GRCm39) missense probably null 0.68
R8811:Dnaja3 UTSW 16 4,514,383 (GRCm39) missense probably benign 0.31
R9128:Dnaja3 UTSW 16 4,520,164 (GRCm39) missense possibly damaging 0.83
Posted On 2014-05-07