Incidental Mutation 'IGL01531:Dnaja3'
ID89768
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnaja3
Ensembl Gene ENSMUSG00000004069
Gene NameDnaJ heat shock protein family (Hsp40) member A3
Synonyms1810053A11Rik, 1200003J13Rik, Tid-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01531
Quality Score
Status
Chromosome16
Chromosomal Location4639989-4707695 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 4694404 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 224 (V224G)
Ref Sequence ENSEMBL: ENSMUSP00000111520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060067] [ENSMUST00000115854] [ENSMUST00000229529]
Predicted Effect probably damaging
Transcript: ENSMUST00000060067
AA Change: V224G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053842
Gene: ENSMUSG00000004069
AA Change: V224G

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: V224G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111520
Gene: ENSMUSG00000004069
AA Change: V224G

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 noncoding transcript
Transcript: ENSMUST00000138495
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,466,958 probably null Het
Adcy1 T C 11: 7,169,414 V1019A possibly damaging Het
Blm A G 7: 80,474,071 Y1004H probably damaging Het
Btbd11 T C 10: 85,629,205 probably benign Het
Cachd1 A C 4: 100,953,034 I278L probably benign Het
Ddx18 T A 1: 121,564,586 T131S probably benign Het
Dgkd T C 1: 87,880,411 F67S probably damaging Het
Dlgap1 A G 17: 70,516,379 T120A probably damaging Het
Dntt A T 19: 41,053,238 R454* probably null Het
Dync2h1 T A 9: 7,071,111 T3083S probably benign Het
Eea1 C A 10: 96,031,677 T1045K probably damaging Het
Gpnmb T A 6: 49,047,458 probably benign Het
Hirip3 A G 7: 126,863,376 E108G possibly damaging Het
Il33 C A 19: 29,951,981 Q35K possibly damaging Het
Il6ra G A 3: 89,886,043 L267F probably damaging Het
Impact C T 18: 12,976,019 S69F probably benign Het
Klk9 G A 7: 43,792,251 G39D probably damaging Het
Ldah A G 12: 8,227,337 D91G probably benign Het
Lrp4 T C 2: 91,511,553 L1837P probably damaging Het
Mov10l1 T A 15: 89,054,352 H1204Q probably damaging Het
Nlrp4c A G 7: 6,060,656 E21G probably damaging Het
Olfr361 T C 2: 37,085,395 M118V possibly damaging Het
Olfr629 T A 7: 103,741,114 N42I probably damaging Het
Osbpl1a T G 18: 12,933,581 K40N probably damaging Het
Ptprd T C 4: 76,085,520 T1010A probably damaging Het
Rp1 A G 1: 4,348,945 V648A probably benign Het
Scn9a T C 2: 66,537,378 K654E probably benign Het
Sema3d A G 5: 12,541,080 I309V probably benign Het
Slc6a2 T C 8: 92,995,682 L519P probably damaging Het
Stard9 A G 2: 120,673,604 I211V possibly damaging Het
Stau2 T C 1: 16,345,698 *480W probably null Het
Svopl T C 6: 38,026,941 probably benign Het
Virma A G 4: 11,528,753 E1330G probably damaging Het
Zan G A 5: 137,424,612 T2713I unknown Het
Other mutations in Dnaja3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Dnaja3 APN 16 4694445 missense probably damaging 1.00
IGL01607:Dnaja3 APN 16 4693395 missense probably damaging 1.00
IGL01981:Dnaja3 APN 16 4701169 missense probably damaging 1.00
IGL02312:Dnaja3 APN 16 4694436 missense probably benign 0.02
IGL02473:Dnaja3 APN 16 4701240 nonsense probably null
IGL02795:Dnaja3 APN 16 4690073 splice site probably benign
R1334:Dnaja3 UTSW 16 4699794 missense probably damaging 1.00
R1700:Dnaja3 UTSW 16 4684165 missense probably null 0.02
R1733:Dnaja3 UTSW 16 4684165 missense probably null 0.02
R1854:Dnaja3 UTSW 16 4697269 missense probably damaging 1.00
R2330:Dnaja3 UTSW 16 4690016 missense probably benign 0.01
R4232:Dnaja3 UTSW 16 4699871 missense possibly damaging 0.80
R4357:Dnaja3 UTSW 16 4699867 missense probably damaging 0.96
R4434:Dnaja3 UTSW 16 4689995 nonsense probably null
R5072:Dnaja3 UTSW 16 4696425 missense probably damaging 0.96
R5073:Dnaja3 UTSW 16 4696425 missense probably damaging 0.96
R5074:Dnaja3 UTSW 16 4696425 missense probably damaging 0.96
R5160:Dnaja3 UTSW 16 4684288 missense probably benign 0.01
R5174:Dnaja3 UTSW 16 4684297 missense probably benign
R5347:Dnaja3 UTSW 16 4694482 missense possibly damaging 0.78
R7106:Dnaja3 UTSW 16 4705934 missense probably benign 0.13
R7214:Dnaja3 UTSW 16 4701182 missense possibly damaging 0.61
R7673:Dnaja3 UTSW 16 4694464 missense probably benign 0.25
R8069:Dnaja3 UTSW 16 4684267 missense probably benign
R8154:Dnaja3 UTSW 16 4699876 missense possibly damaging 0.53
R8477:Dnaja3 UTSW 16 4687348 missense probably null 0.68
R8811:Dnaja3 UTSW 16 4696519 missense probably benign 0.31
Posted On2013-12-03