Incidental Mutation 'R4232:Dnaja3'
ID 320931
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 041051-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4232 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 4501934-4525559 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4517735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 322 (N322K)
Ref Sequence ENSEMBL: ENSMUSP00000155588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060067] [ENSMUST00000115854] [ENSMUST00000229529]
AlphaFold Q99M87
Predicted Effect possibly damaging
Transcript: ENSMUST00000060067
AA Change: N373K

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000053842
Gene: ENSMUSG00000004069
AA Change: N373K

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 possibly damaging
Transcript: ENSMUST00000115854
AA Change: N373K

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000111520
Gene: ENSMUSG00000004069
AA Change: N373K

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 possibly damaging
Transcript: ENSMUST00000229529
AA Change: N322K

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 92% (58/63)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Aven A G 2: 112,458,113 (GRCm39) D167G probably damaging Het
Celsr2 A G 3: 108,321,088 (GRCm39) F575L probably benign Het
Cflar A T 1: 58,780,152 (GRCm39) Q249L possibly damaging Het
Col7a1 G A 9: 108,801,881 (GRCm39) probably null Het
Dmxl2 T C 9: 54,327,193 (GRCm39) D944G possibly damaging Het
Dnah1 T C 14: 31,026,873 (GRCm39) N717S probably benign Het
Dnajb3 A G 1: 88,132,974 (GRCm39) S143P possibly damaging Het
Dtx3 A G 10: 127,029,058 (GRCm39) I60T possibly damaging Het
Dvl3 A G 16: 20,342,983 (GRCm39) probably benign Het
Fkbp7 A T 2: 76,493,661 (GRCm39) D177E possibly damaging Het
Galnt7 T C 8: 58,106,000 (GRCm39) I5V probably benign Het
Garin3 C A 11: 46,298,232 (GRCm39) T512K possibly damaging Het
Helz2 A T 2: 180,871,695 (GRCm39) L2639Q probably damaging Het
Hnrnpr T C 4: 136,066,500 (GRCm39) M394T probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kif14 T A 1: 136,444,101 (GRCm39) C1364* probably null Het
Macf1 T C 4: 123,326,185 (GRCm39) E5104G probably damaging Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Mrtfa T A 15: 80,907,796 (GRCm39) K29M probably damaging Het
Mtbp CATGA CATGAATGA 15: 55,484,073 (GRCm39) probably null Het
Nfkb1 A G 3: 135,309,531 (GRCm39) V521A probably damaging Het
Or2b7 T C 13: 21,739,631 (GRCm39) D187G probably damaging Het
Or7g32 G T 9: 19,389,022 (GRCm39) L175M probably damaging Het
P2rx6 T C 16: 17,388,631 (GRCm39) L335P probably damaging Het
Pcdhga5 A G 18: 37,829,001 (GRCm39) D483G possibly damaging Het
Pgpep1l T C 7: 67,886,827 (GRCm39) T161A probably benign Het
Prss40 A G 1: 34,599,873 (GRCm39) V38A probably benign Het
Ptk2 C A 15: 73,181,698 (GRCm39) R104L possibly damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rtp4 A G 16: 23,431,833 (GRCm39) N122D possibly damaging Het
Samd8 A G 14: 21,830,213 (GRCm39) Y213C probably benign Het
Shcbp1 T A 8: 4,786,372 (GRCm39) T577S probably benign Het
Tiprl A G 1: 165,050,156 (GRCm39) V153A probably damaging Het
Tmprss7 A T 16: 45,476,936 (GRCm39) D775E probably damaging Het
Tnr T C 1: 159,713,785 (GRCm39) S738P possibly damaging Het
Tsc22d4 T C 5: 137,749,632 (GRCm39) probably null Het
Ttc21a A T 9: 119,771,684 (GRCm39) H161L probably benign Het
Ubqln3 T A 7: 103,791,010 (GRCm39) E360V probably benign Het
Ugt1a10 C A 1: 87,983,932 (GRCm39) D243E probably benign Het
Vmn2r19 G A 6: 123,306,871 (GRCm39) V460I probably benign Het
Vmn2r58 T A 7: 41,487,011 (GRCm39) Y628F possibly damaging Het
Wnk1 A T 6: 119,926,222 (GRCm39) S1588T possibly damaging Het
Wscd2 A G 5: 113,699,045 (GRCm39) D200G probably benign Het
Zfp831 G C 2: 174,547,447 (GRCm39) W1543C possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- GTTAAAGTGTGTCAGGTTCCAAGG -3'
(R):5'- TGCACATGGATGCAAACCTAAC -3'

Sequencing Primer
(F):5'- AGACACATGGCTGGTGTCTAGC -3'
(R):5'- CCTAACACAGGGAAGGCAACTG -3'
Posted On 2015-06-12