Incidental Mutation 'R1438:Dnajc3'
ID 160808
Institutional Source Beutler Lab
Gene Symbol Dnajc3
Ensembl Gene ENSMUSG00000022136
Gene Name DnaJ heat shock protein family (Hsp40) member C3
Synonyms Dnajc3, Dnajc3a, mp58, Dnajc3b, Prkri, p58IPK
MMRRC Submission 039493-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.511) question?
Stock # R1438 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 119175388-119219109 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119205518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 171 (T171A)
Ref Sequence ENSEMBL: ENSMUSP00000022734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022734]
AlphaFold Q91YW3
PDB Structure Crystal Structure of P58(IPK) TPR Domain at 2.5 A [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000022734
AA Change: T171A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022734
Gene: ENSMUSG00000022136
AA Change: T171A

DomainStartEndE-ValueType
TPR 37 70 2.02e1 SMART
TPR 71 104 2.52e-1 SMART
TPR 105 138 4.99e-5 SMART
TPR 188 221 1.16e0 SMART
TPR 222 255 4.96e0 SMART
TPR 306 339 4.1e1 SMART
TPR 340 373 6.58e-5 SMART
DnaJ 393 454 6.88e-26 SMART
Meta Mutation Damage Score 0.0749 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.3%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of the interferon-induced, dsRNA-activated protein kinase (PKR). [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous null mice are smaller in size, have a lower percentage of body fat and develop a gradual onset of glucosuria and hyperglycemia associated with increasing apoptosis of pancreatic islet cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A T 5: 137,552,871 (GRCm39) I67F probably damaging Het
Adam24 A T 8: 41,134,431 (GRCm39) N633I probably benign Het
Adgrg6 T C 10: 14,344,585 (GRCm39) S123G possibly damaging Het
Afdn T A 17: 14,075,652 (GRCm39) F940L probably damaging Het
Ahrr A T 13: 74,372,987 (GRCm39) Y26* probably null Het
Akap1 C A 11: 88,735,577 (GRCm39) G362* probably null Het
Aox3 A T 1: 58,192,337 (GRCm39) T536S probably benign Het
Boc A T 16: 44,309,109 (GRCm39) probably null Het
Cchcr1 T C 17: 35,841,457 (GRCm39) probably null Het
Cct2 A T 10: 116,890,897 (GRCm39) probably benign Het
Cd84 A T 1: 171,679,685 (GRCm39) Y121F probably damaging Het
Cecr2 T A 6: 120,738,433 (GRCm39) C275* probably null Het
Chchd3 C A 6: 32,985,503 (GRCm39) probably benign Het
Ckmt2 A T 13: 92,007,971 (GRCm39) probably benign Het
Col5a3 T C 9: 20,691,253 (GRCm39) K1131E probably damaging Het
Dek A T 13: 47,241,647 (GRCm39) S306T probably benign Het
Dhx32 T C 7: 133,339,069 (GRCm39) E322G possibly damaging Het
Dlg5 T A 14: 24,204,673 (GRCm39) D941V possibly damaging Het
Dnah10 A G 5: 124,876,009 (GRCm39) N2559S probably benign Het
Eftud2 G T 11: 102,750,868 (GRCm39) F308L probably damaging Het
Elp6 T C 9: 110,143,123 (GRCm39) F95S probably damaging Het
Emsy C T 7: 98,270,613 (GRCm39) V450I possibly damaging Het
Exoc3 A T 13: 74,338,298 (GRCm39) M362K probably damaging Het
Fat2 A T 11: 55,178,637 (GRCm39) D1474E probably damaging Het
Fcgbp T A 7: 27,803,158 (GRCm39) C1587* probably null Het
Fosl2 T A 5: 32,304,329 (GRCm39) L88Q probably damaging Het
Fsd2 T C 7: 81,198,621 (GRCm39) D381G probably benign Het
Golim4 A C 3: 75,863,440 (GRCm39) S56A probably damaging Het
Gpr39 T C 1: 125,800,093 (GRCm39) probably benign Het
Gucy1b2 T C 14: 62,651,770 (GRCm39) I409V probably damaging Het
Hivep1 A G 13: 42,311,596 (GRCm39) T1279A probably benign Het
Ifit1bl2 T A 19: 34,596,569 (GRCm39) Q349L possibly damaging Het
Kcnc1 A T 7: 46,077,691 (GRCm39) I498F possibly damaging Het
Kctd21 T A 7: 96,996,704 (GRCm39) I59N probably damaging Het
Lama5 T A 2: 179,824,593 (GRCm39) T2577S probably benign Het
Mief2 G T 11: 60,621,140 (GRCm39) R9M possibly damaging Het
Mmp3 T C 9: 7,453,705 (GRCm39) V442A probably benign Het
Nkapd1 C A 9: 50,518,972 (GRCm39) K213N possibly damaging Het
Nrxn3 C T 12: 90,298,909 (GRCm39) R477W probably damaging Het
Or12e7 A G 2: 87,288,336 (GRCm39) T276A probably benign Het
Or7a41 T A 10: 78,871,122 (GRCm39) V164E possibly damaging Het
Parp1 A G 1: 180,418,807 (GRCm39) T656A probably benign Het
Pcdhb19 A G 18: 37,631,015 (GRCm39) D270G probably damaging Het
Phlpp1 A G 1: 106,101,142 (GRCm39) D470G possibly damaging Het
Prdm1 T C 10: 44,318,124 (GRCm39) E248G probably benign Het
Prtg C T 9: 72,818,032 (GRCm39) probably benign Het
Ptpn1 T C 2: 167,818,529 (GRCm39) Y424H probably damaging Het
Ptprr T C 10: 116,092,109 (GRCm39) V369A probably damaging Het
Rai1 T G 11: 60,076,221 (GRCm39) V95G probably benign Het
Rasal3 T A 17: 32,612,509 (GRCm39) probably null Het
Rbm19 A G 5: 120,260,961 (GRCm39) E195G probably benign Het
Rhbdd3 T A 11: 5,053,332 (GRCm39) L44Q probably damaging Het
Ripply2 T C 9: 86,901,713 (GRCm39) W80R probably damaging Het
Rnf183 A G 4: 62,346,760 (GRCm39) C13R probably damaging Het
Rorb A G 19: 18,932,417 (GRCm39) L367P probably damaging Het
Rpl7a-ps5 C T 17: 58,146,135 (GRCm39) probably benign Het
Rreb1 A G 13: 38,114,581 (GRCm39) N647D probably benign Het
Rtn1 A T 12: 72,351,187 (GRCm39) S341T probably damaging Het
Ryr3 T C 2: 112,588,046 (GRCm39) S2632G probably benign Het
Scube1 A G 15: 83,499,227 (GRCm39) C633R possibly damaging Het
Sdk1 A T 5: 142,024,078 (GRCm39) I723F probably damaging Het
Sec23a A T 12: 59,048,796 (GRCm39) C109S probably damaging Het
Septin11 T C 5: 93,296,287 (GRCm39) F60L probably damaging Het
Sgf29 G A 7: 126,271,063 (GRCm39) probably null Het
Skint5 A G 4: 113,413,308 (GRCm39) probably benign Het
Smo G A 6: 29,755,482 (GRCm39) V385I possibly damaging Het
Tada2a G A 11: 84,000,837 (GRCm39) T76I probably damaging Het
Tas2r118 T A 6: 23,969,422 (GRCm39) H213L possibly damaging Het
Thoc5 A T 11: 4,861,427 (GRCm39) probably benign Het
Tmem33 T A 5: 67,424,634 (GRCm39) probably null Het
Top1mt A G 15: 75,546,247 (GRCm39) L78P probably damaging Het
Uvssa T A 5: 33,571,228 (GRCm39) probably benign Het
Vmn2r50 A T 7: 9,784,062 (GRCm39) C137* probably null Het
Vmn2r81 A G 10: 79,129,691 (GRCm39) T861A probably benign Het
Wnt3 A T 11: 103,699,077 (GRCm39) N61I probably damaging Het
Zswim9 A G 7: 13,011,144 (GRCm39) I68T possibly damaging Het
Zzef1 T C 11: 72,803,771 (GRCm39) I2535T probably damaging Het
Other mutations in Dnajc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Dnajc3 APN 14 119,198,274 (GRCm39) critical splice donor site probably null
ghostly UTSW 14 119,208,192 (GRCm39) nonsense probably null
vanishing UTSW 14 119,209,799 (GRCm39) nonsense probably null
R1712:Dnajc3 UTSW 14 119,195,307 (GRCm39) missense probably damaging 1.00
R2257:Dnajc3 UTSW 14 119,210,114 (GRCm39) missense probably benign
R2261:Dnajc3 UTSW 14 119,198,232 (GRCm39) missense probably damaging 0.98
R2262:Dnajc3 UTSW 14 119,198,232 (GRCm39) missense probably damaging 0.98
R2307:Dnajc3 UTSW 14 119,190,633 (GRCm39) critical splice donor site probably null
R4963:Dnajc3 UTSW 14 119,215,585 (GRCm39) missense probably benign 0.06
R4996:Dnajc3 UTSW 14 119,209,839 (GRCm39) missense probably benign
R5398:Dnajc3 UTSW 14 119,209,799 (GRCm39) nonsense probably null
R5539:Dnajc3 UTSW 14 119,208,159 (GRCm39) missense probably damaging 0.98
R5988:Dnajc3 UTSW 14 119,195,376 (GRCm39) missense possibly damaging 0.54
R6032:Dnajc3 UTSW 14 119,205,443 (GRCm39) missense possibly damaging 0.69
R6032:Dnajc3 UTSW 14 119,205,443 (GRCm39) missense possibly damaging 0.69
R7361:Dnajc3 UTSW 14 119,175,576 (GRCm39) missense probably benign 0.01
R7486:Dnajc3 UTSW 14 119,209,816 (GRCm39) missense probably benign 0.01
R8086:Dnajc3 UTSW 14 119,208,192 (GRCm39) nonsense probably null
R8092:Dnajc3 UTSW 14 119,207,994 (GRCm39) splice site probably null
R8517:Dnajc3 UTSW 14 119,190,589 (GRCm39) nonsense probably null
R9685:Dnajc3 UTSW 14 119,209,775 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- TGCTGGTGTGGAATGAATCACCC -3'
(R):5'- GCTAAGAGCACAAAGGTCAGACTGC -3'

Sequencing Primer
(F):5'- tgtgtgtgtgtgtgtCATAGG -3'
(R):5'- AGGTCAGACTGCACCCTCTC -3'
Posted On 2014-03-14