Incidental Mutation 'R4357:Dnaja3'
ID 324632
Institutional Source Beutler Lab
Gene Symbol Dnaja3
Ensembl Gene ENSMUSG00000004069
Gene Name DnaJ heat shock protein family (Hsp40) member A3
Synonyms 1810053A11Rik, Tid-1, 1200003J13Rik
MMRRC Submission 041109-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4357 (G1)
Quality Score 199
Status Not validated
Chromosome 16
Chromosomal Location 4501934-4525559 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4517731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 321 (I321T)
Ref Sequence ENSEMBL: ENSMUSP00000155588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060067] [ENSMUST00000115854] [ENSMUST00000229529]
AlphaFold Q99M87
Predicted Effect probably benign
Transcript: ENSMUST00000060067
AA Change: I372T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000053842
Gene: ENSMUSG00000004069
AA Change: I372T

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 benign
Transcript: ENSMUST00000115854
AA Change: I372T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000111520
Gene: ENSMUSG00000004069
AA Change: I372T

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: I321T

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 41,248,084 (GRCm39) T65A possibly damaging Het
Alpk1 C T 3: 127,523,022 (GRCm39) V7M probably damaging Het
Ap4m1 A G 5: 138,171,311 (GRCm39) E125G probably damaging Het
Atp13a2 C A 4: 140,729,215 (GRCm39) D599E probably benign Het
Brme1 T C 8: 84,886,221 (GRCm39) L59P probably benign Het
Camkv G A 9: 107,825,145 (GRCm39) G354E probably benign Het
Casp8ap2 T A 4: 32,646,150 (GRCm39) M1741K probably benign Het
Chtf18 T C 17: 25,938,106 (GRCm39) D119G probably benign Het
Cnga1 T A 5: 72,775,595 (GRCm39) D42V probably damaging Het
Cysltr2 T C 14: 73,267,084 (GRCm39) I209V probably benign Het
Defa27 A T 8: 21,805,608 (GRCm39) Q16L probably null Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Eif2ak3 T A 6: 70,861,859 (GRCm39) I467N probably damaging Het
Eif5b T A 1: 38,089,339 (GRCm39) V1105E probably damaging Het
Gfod2 T C 8: 106,444,177 (GRCm39) N122S possibly damaging Het
Gm10803 A G 2: 93,394,350 (GRCm39) R41G unknown Het
Gm38392 A T 3: 88,154,741 (GRCm39) I221N probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Hsd17b6 G T 10: 127,829,637 (GRCm39) probably null Het
Ids C A X: 69,389,950 (GRCm39) G506C probably damaging Het
Ifna15 G T 4: 88,476,079 (GRCm39) T135N probably benign Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Kif24 A G 4: 41,413,827 (GRCm39) probably null Het
Lats2 A G 14: 57,936,840 (GRCm39) S550P probably damaging Het
Lmo7 A G 14: 102,125,091 (GRCm39) R406G probably null Het
Lpcat2 C A 8: 93,599,734 (GRCm39) P234Q probably benign Het
Lrp10 C T 14: 54,705,823 (GRCm39) R338C probably damaging Het
Lrrfip2 A G 9: 111,028,755 (GRCm39) E326G probably damaging Het
Megf8 T A 7: 25,055,174 (GRCm39) I1969N probably benign Het
Mib1 A G 18: 10,751,844 (GRCm39) N242S probably benign Het
Ngf A G 3: 102,427,521 (GRCm39) E94G probably benign Het
Oas2 C T 5: 120,876,734 (GRCm39) probably null Het
Odf2 A G 2: 29,782,256 (GRCm39) T75A probably benign Het
Or4f60 A G 2: 111,902,583 (GRCm39) L115P probably damaging Het
Or5w11 T A 2: 87,458,810 (GRCm39) M1K probably null Het
Pi4ka T A 16: 17,185,303 (GRCm39) I266F probably benign Het
Prps2 T A X: 166,146,545 (GRCm39) K176* probably null Het
Psmd2 T G 16: 20,475,402 (GRCm39) D393E probably benign Het
Rabep2 A G 7: 126,047,397 (GRCm39) I753T probably damaging Het
Rara A C 11: 98,858,937 (GRCm39) I129L probably damaging Het
Rasgrf2 C A 13: 92,038,796 (GRCm39) D1017Y probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Spmip4 T C 6: 50,551,190 (GRCm39) T420A probably benign Het
Spsb1 T C 4: 149,991,232 (GRCm39) H112R probably damaging Het
Sptlc1 A T 13: 53,528,068 (GRCm39) I32K probably damaging Het
Srd5a3 T A 5: 76,295,547 (GRCm39) F79Y probably damaging Het
Ssrp1 A T 2: 84,871,495 (GRCm39) M306L probably benign Het
Sulf2 T C 2: 165,919,497 (GRCm39) E817G probably benign Het
Tiam2 C A 17: 3,501,128 (GRCm39) D922E probably damaging Het
Tle4 A G 19: 14,445,625 (GRCm39) V207A probably benign Het
Ttll12 A T 15: 83,465,958 (GRCm39) C413S probably damaging Het
Usp45 T A 4: 21,834,350 (GRCm39) Y809* probably null Het
Vmn2r59 G A 7: 41,661,644 (GRCm39) P724S probably damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M 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
IGL01981:Dnaja3 APN 16 4,519,033 (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
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
Predicted Primers PCR Primer
(F):5'- GTGTGTCAGGTTCCAAGGTC -3'
(R):5'- CATGCACATGGATGCAAACC -3'

Sequencing Primer
(F):5'- AGACACATGGCTGGTGTCTAGC -3'
(R):5'- CCTAACACAGGGAAGGCAACTG -3'
Posted On 2015-06-24