Incidental Mutation 'R7354:Dnajc27'
ID 570824
Institutional Source Beutler Lab
Gene Symbol Dnajc27
Ensembl Gene ENSMUSG00000020657
Gene Name DnaJ heat shock protein family (Hsp40) member C27
Synonyms C330021A05Rik, Rbj, Rabj
MMRRC Submission 045440-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7354 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 4132583-4160606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4146249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 93 (I93V)
Ref Sequence ENSEMBL: ENSMUSP00000020986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020986] [ENSMUST00000049584] [ENSMUST00000219923]
AlphaFold Q8CFP6
Predicted Effect probably benign
Transcript: ENSMUST00000020986
AA Change: I93V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020986
Gene: ENSMUSG00000020657
AA Change: I93V

DomainStartEndE-ValueType
Pfam:Arf 4 182 1.4e-15 PFAM
Pfam:GTP_EFTU 15 184 1.1e-5 PFAM
Pfam:Miro 18 137 6.6e-17 PFAM
Pfam:Ras 18 184 8e-44 PFAM
DnaJ 216 273 8.31e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000049584
AA Change: I93V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106803
Gene: ENSMUSG00000020657
AA Change: I93V

DomainStartEndE-ValueType
Pfam:Arf 4 182 1.4e-15 PFAM
Pfam:MMR_HSR1 18 135 5.9e-6 PFAM
Pfam:Roc 18 138 2.1e-24 PFAM
Pfam:Ras 18 184 9.5e-44 PFAM
Pfam:Gtr1_RagA 18 185 4.5e-6 PFAM
DnaJ 216 273 8.31e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000219923
AA Change: I93V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (82/82)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit decreased incidence, multiplicity and tumor burden in an AOM/DSS-induced colonic carcinogenesis model. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 T A 4: 126,311,099 (GRCm39) Q38L possibly damaging Het
Apon T A 10: 128,090,607 (GRCm39) I95N probably benign Het
Arid1a G T 4: 133,421,258 (GRCm39) P464Q unknown Het
Arid4b A G 13: 14,339,455 (GRCm39) D503G probably benign Het
Asxl2 T C 12: 3,505,637 (GRCm39) probably benign Het
Atp2a1 A T 7: 126,048,028 (GRCm39) V594D probably damaging Het
Begain A G 12: 108,999,215 (GRCm39) F519L possibly damaging Het
Bora A G 14: 99,284,794 (GRCm39) T15A probably damaging Het
Btbd7 A T 12: 102,804,464 (GRCm39) M192K probably benign Het
Ccdc125 T G 13: 100,814,382 (GRCm39) probably null Het
Cdcp3 G A 7: 130,858,458 (GRCm39) C1042Y possibly damaging Het
Cdcp3 G T 7: 130,873,762 (GRCm39) C1696F unknown Het
Cfap74 G T 4: 155,549,804 (GRCm39) V146L unknown Het
Crisp1 G A 17: 40,630,071 (GRCm39) probably benign Het
Ctbp1 A T 5: 33,407,732 (GRCm39) H292Q possibly damaging Het
Defb5 T A 8: 19,300,750 (GRCm39) M34K probably benign Het
Dqx1 T A 6: 83,037,957 (GRCm39) Y448* probably null Het
Dynap A T 18: 70,374,371 (GRCm39) C52S possibly damaging Het
Ehd4 C A 2: 119,932,613 (GRCm39) R271L probably damaging Het
Ercc2 T G 7: 19,127,579 (GRCm39) I619S possibly damaging Het
Etf1 A G 18: 35,039,040 (GRCm39) I409T probably damaging Het
Fam117a A G 11: 95,271,529 (GRCm39) D367G probably damaging Het
Fancd2 A G 6: 113,572,907 (GRCm39) D1447G unknown Het
Fbxw9 T C 8: 85,788,825 (GRCm39) S192P probably damaging Het
Frzb A T 2: 80,277,153 (GRCm39) L11Q probably damaging Het
Gm14496 T C 2: 181,642,479 (GRCm39) S717P probably damaging Het
Gm3250 A G 10: 77,618,367 (GRCm39) probably benign Het
Gm4353 C T 7: 115,683,146 (GRCm39) R145Q probably benign Het
Gpr12 A T 5: 146,520,772 (GRCm39) V50D probably damaging Het
Hes1 T C 16: 29,884,746 (GRCm39) probably null Het
Hmcn1 A T 1: 150,682,196 (GRCm39) C451* probably null Het
Iars1 T C 13: 49,857,796 (GRCm39) V347A probably benign Het
Igfn1 A G 1: 135,903,770 (GRCm39) S323P possibly damaging Het
Itga6 G A 2: 71,650,574 (GRCm39) A207T probably damaging Het
Lgi4 T A 7: 30,760,047 (GRCm39) L81H probably damaging Het
Lrp1 T C 10: 127,407,277 (GRCm39) E1888G probably damaging Het
Man2a1 C T 17: 65,059,539 (GRCm39) T1142M probably damaging Het
Mdfic2 T A 6: 98,215,242 (GRCm39) D127V probably damaging Het
Mgam A T 6: 40,721,732 (GRCm39) Y350F probably damaging Het
Miga1 T C 3: 151,996,137 (GRCm39) D351G probably damaging Het
Mro A G 18: 74,006,385 (GRCm39) T111A probably benign Het
Mtrr A T 13: 68,714,326 (GRCm39) V471E probably damaging Het
Myh3 C A 11: 66,987,708 (GRCm39) L1394I probably damaging Het
Myocd A G 11: 65,078,319 (GRCm39) V492A probably benign Het
Nbeal2 A G 9: 110,458,247 (GRCm39) F2115S probably damaging Het
Nlrp1b A T 11: 71,072,376 (GRCm39) M489K possibly damaging Het
Or12j5 A C 7: 140,084,099 (GRCm39) I91R probably damaging Het
Or14j7 A G 17: 38,235,284 (GRCm39) I276V probably benign Het
Or1e1c A T 11: 73,266,201 (GRCm39) I212F probably benign Het
Or4c122 T C 2: 89,079,031 (GRCm39) probably null Het
Or4k44 C T 2: 111,367,909 (GRCm39) A242T possibly damaging Het
Orc2 A G 1: 58,508,906 (GRCm39) S462P possibly damaging Het
Pcdh9 T C 14: 94,125,706 (GRCm39) T155A probably benign Het
Pcdhb16 G A 18: 37,611,177 (GRCm39) V46I possibly damaging Het
Pcdhb22 A G 18: 37,653,311 (GRCm39) D336G probably damaging Het
Pde4dip T A 3: 97,626,646 (GRCm39) R1297S probably damaging Het
Plin4 A G 17: 56,411,427 (GRCm39) M868T probably benign Het
Plxnb2 A G 15: 89,049,928 (GRCm39) M531T possibly damaging Het
Poc5 T C 13: 96,531,033 (GRCm39) V77A probably benign Het
Recql5 G A 11: 115,819,027 (GRCm39) R180C probably damaging Het
Rho C A 6: 115,912,464 (GRCm39) Y268* probably null Het
Riok1 A T 13: 38,231,288 (GRCm39) H182L probably benign Het
Rnf207 T C 4: 152,398,548 (GRCm39) D273G probably damaging Het
Serpinb11 A G 1: 107,305,263 (GRCm39) Y213C probably benign Het
Slc16a10 T C 10: 39,952,951 (GRCm39) Y181C probably damaging Het
Slc22a15 G A 3: 101,771,897 (GRCm39) H401Y probably benign Het
Slc5a5 C A 8: 71,342,247 (GRCm39) R268L probably damaging Het
Slc9a8 T C 2: 167,316,051 (GRCm39) F576S possibly damaging Het
Slx4 T C 16: 3,804,963 (GRCm39) E617G probably benign Het
Spata31d1e A T 13: 59,889,648 (GRCm39) L724* probably null Het
Top1 T C 2: 160,546,878 (GRCm39) I386T probably damaging Het
Tor1aip1 G T 1: 155,911,859 (GRCm39) D41E probably damaging Het
Tsc22d4 G A 5: 137,766,371 (GRCm39) R479Q probably benign Het
Unc79 C T 12: 103,108,961 (GRCm39) T2191I possibly damaging Het
Vmn2r109 A T 17: 20,761,043 (GRCm39) D771E probably damaging Het
Vmn2r82 A C 10: 79,192,464 (GRCm39) M14L probably benign Het
Zc3h7a C T 16: 10,966,378 (GRCm39) S583N probably damaging Het
Zfp518b G A 5: 38,840,122 (GRCm39) probably benign Het
Zswim4 A G 8: 84,955,478 (GRCm39) W314R probably damaging Het
Other mutations in Dnajc27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02338:Dnajc27 APN 12 4,146,229 (GRCm39) missense probably damaging 1.00
IGL02888:Dnajc27 APN 12 4,139,186 (GRCm39) missense possibly damaging 0.47
R0101:Dnajc27 UTSW 12 4,139,142 (GRCm39) missense probably benign 0.05
R0304:Dnajc27 UTSW 12 4,156,793 (GRCm39) splice site probably benign
R2005:Dnajc27 UTSW 12 4,147,317 (GRCm39) missense possibly damaging 0.83
R2912:Dnajc27 UTSW 12 4,146,280 (GRCm39) missense probably damaging 0.98
R6622:Dnajc27 UTSW 12 4,153,114 (GRCm39) missense probably benign 0.00
R6824:Dnajc27 UTSW 12 4,156,897 (GRCm39) missense possibly damaging 0.80
R7664:Dnajc27 UTSW 12 4,153,132 (GRCm39) missense possibly damaging 0.81
R7953:Dnajc27 UTSW 12 4,147,270 (GRCm39) missense possibly damaging 0.73
R8679:Dnajc27 UTSW 12 4,146,325 (GRCm39) missense possibly damaging 0.81
R9287:Dnajc27 UTSW 12 4,146,256 (GRCm39) missense possibly damaging 0.87
X0028:Dnajc27 UTSW 12 4,153,130 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AAGCCCTTGTTTCCTGCTAAAC -3'
(R):5'- GTGTCCTCAAAAGCACAACTGTTAG -3'

Sequencing Primer
(F):5'- TTTATACGAAGTCCTCTCAAAGCCAG -3'
(R):5'- TGTTAGCAAACCCATTCAGAGCAG -3'
Posted On 2019-09-13