Incidental Mutation 'IGL02473:Dnaja3'
ID294815
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 #IGL02473
Quality Score
Status
Chromosome16
Chromosomal Location4639989-4707695 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 4701240 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 348 (Y348*)
Ref Sequence ENSEMBL: ENSMUSP00000155588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060067] [ENSMUST00000115854] [ENSMUST00000229529]
Predicted Effect probably null
Transcript: ENSMUST00000060067
AA Change: Y399*
SMART Domains Protein: ENSMUSP00000053842
Gene: ENSMUSG00000004069
AA Change: Y399*

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 null
Transcript: ENSMUST00000115854
AA Change: Y399*
SMART Domains Protein: ENSMUSP00000111520
Gene: ENSMUSG00000004069
AA Change: Y399*

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 null
Transcript: ENSMUST00000229529
AA Change: Y348*
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik G A 5: 48,388,098 probably benign Het
9030624G23Rik A G 12: 24,044,852 F106S probably benign Het
A930011G23Rik T C 5: 99,222,995 Y468C probably damaging Het
Abcd3 T C 3: 121,769,244 T515A possibly damaging Het
Acrbp A G 6: 125,054,698 T321A probably benign Het
Aldh2 T C 5: 121,572,078 Y398C probably damaging Het
Baz2b T A 2: 59,960,063 D602V probably benign Het
Ccdc105 A T 10: 78,750,594 S208T probably benign Het
Ccdc191 T C 16: 43,956,894 V714A probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cntn2 A G 1: 132,518,331 L839P probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp3a16 T C 5: 145,440,494 I428V possibly damaging Het
Dnah7b A T 1: 46,234,193 T2494S probably damaging Het
Dnajb3 C A 1: 88,205,382 E99D probably benign Het
Igf2bp3 A G 6: 49,094,229 F411L probably benign Het
L3mbtl4 A T 17: 68,559,777 Y337F possibly damaging Het
Lias A G 5: 65,405,402 T258A possibly damaging Het
Lipk T A 19: 34,039,148 C254S probably damaging Het
Map4k1 T C 7: 28,999,872 L596S probably damaging Het
Mdga2 T C 12: 66,550,611 E703G possibly damaging Het
Mreg A G 1: 72,162,336 Y166H probably damaging Het
Olfr1272 T C 2: 90,281,696 K293R probably null Het
Olfr38 A G 6: 42,762,706 Y218C probably damaging Het
Pcgf2 A G 11: 97,691,921 probably benign Het
Prdm15 T C 16: 97,837,605 probably null Het
Rnf111 A G 9: 70,440,858 V810A probably damaging Het
Rpl23a-ps1 A T 1: 45,981,791 noncoding transcript Het
Smc3 C A 19: 53,636,448 A779E probably benign Het
Smtn C T 11: 3,532,463 G140D probably damaging Het
Son T C 16: 91,658,795 S1477P probably damaging Het
Strn T C 17: 78,684,293 D20G possibly damaging Het
Tnxb T C 17: 34,717,762 L2798P probably damaging Het
Ttn A C 2: 76,945,552 N1715K probably damaging Het
Vps33a A T 5: 123,569,571 I111N probably damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zscan4d A T 7: 11,162,409 C345S probably benign Het
Other mutations in Dnaja3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Dnaja3 APN 16 4694445 missense probably damaging 1.00
IGL01531:Dnaja3 APN 16 4694404 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
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
Posted On2015-04-16