Incidental Mutation 'IGL02338:Dnajc27'
ID 288953
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc27
Ensembl Gene ENSMUSG00000020657
Gene Name DnaJ heat shock protein family (Hsp40) member C27
Synonyms C330021A05Rik, Rbj, Rabj
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02338
Quality Score
Status
Chromosome 12
Chromosomal Location 4132583-4160606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4146229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 86 (Y86C)
Ref Sequence ENSEMBL: ENSMUSP00000151848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020986] [ENSMUST00000049584] [ENSMUST00000219923]
AlphaFold Q8CFP6
Predicted Effect probably damaging
Transcript: ENSMUST00000020986
AA Change: Y86C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020986
Gene: ENSMUSG00000020657
AA Change: Y86C

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 damaging
Transcript: ENSMUST00000049584
AA Change: Y86C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106803
Gene: ENSMUSG00000020657
AA Change: Y86C

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 damaging
Transcript: ENSMUST00000219923
AA Change: Y86C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220273
Coding Region Coverage
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G A 4: 132,789,860 (GRCm39) C367Y possibly damaging Het
AI182371 T A 2: 34,975,728 (GRCm39) I279L probably benign Het
Ambp A T 4: 63,061,934 (GRCm39) C332S probably damaging Het
App T C 16: 84,970,407 (GRCm39) T14A probably benign Het
Asap1 A T 15: 63,995,519 (GRCm39) probably null Het
Aurka T C 2: 172,201,778 (GRCm39) R242G probably benign Het
BC034090 G A 1: 155,093,217 (GRCm39) P747L probably damaging Het
Bcl6b T C 11: 70,119,918 (GRCm39) D23G probably damaging Het
Cabp2 A C 19: 4,134,154 (GRCm39) E42A possibly damaging Het
Ccdc14 G A 16: 34,542,173 (GRCm39) S557N probably benign Het
Ccdc146 G T 5: 21,524,604 (GRCm39) probably benign Het
Cenpf T A 1: 189,412,615 (GRCm39) Q216L probably damaging Het
Ces1b G A 8: 93,783,675 (GRCm39) P515L possibly damaging Het
Col6a5 A T 9: 105,755,829 (GRCm39) N2198K probably damaging Het
Csmd2 A G 4: 128,288,859 (GRCm39) S1133G possibly damaging Het
Cspg5 G A 9: 110,085,335 (GRCm39) R502H probably benign Het
Cyp2g1 A G 7: 26,514,229 (GRCm39) probably benign Het
Dnm1 T C 2: 32,202,783 (GRCm39) D715G probably damaging Het
Dock1 G T 7: 134,734,804 (GRCm39) L1317F possibly damaging Het
Fanci T A 7: 79,083,279 (GRCm39) Y727* probably null Het
Fbxw20 T A 9: 109,055,046 (GRCm39) T168S probably benign Het
Folh1 A T 7: 86,385,723 (GRCm39) probably benign Het
Gas7 A T 11: 67,573,557 (GRCm39) S379C probably damaging Het
Gbp2b A G 3: 142,309,987 (GRCm39) E259G probably benign Het
Gm8325 T C 3: 60,784,805 (GRCm39) noncoding transcript Het
Gpr75 A T 11: 30,841,730 (GRCm39) T212S probably benign Het
Itgb4 A G 11: 115,898,795 (GRCm39) T1711A probably damaging Het
Ly75 T C 2: 60,184,796 (GRCm39) S453G probably benign Het
Maneal A G 4: 124,754,276 (GRCm39) probably benign Het
Marco A T 1: 120,422,508 (GRCm39) I58N possibly damaging Het
Mtcl1 A G 17: 66,686,965 (GRCm39) I647T probably damaging Het
Mtfr1l A T 4: 134,258,054 (GRCm39) V56D probably damaging Het
Npy1r G A 8: 67,156,954 (GRCm39) V125I probably damaging Het
Or1j19 C T 2: 36,676,557 (GRCm39) Q7* probably null Het
Or52n20 T C 7: 104,320,888 (GRCm39) probably benign Het
Or7g25 A G 9: 19,159,960 (GRCm39) L245P probably damaging Het
Osmr A T 15: 6,867,210 (GRCm39) L362* probably null Het
Pdlim2 T C 14: 70,411,906 (GRCm39) D42G probably damaging Het
Plcb4 T A 2: 135,842,100 (GRCm39) I89N possibly damaging Het
Prrc2b T A 2: 32,104,047 (GRCm39) M1175K probably benign Het
Pzp T A 6: 128,463,133 (GRCm39) N1423I probably benign Het
Retnla G A 16: 48,664,561 (GRCm39) C105Y probably damaging Het
Samd8 T A 14: 21,825,544 (GRCm39) S167T possibly damaging Het
Scg2 A G 1: 79,414,210 (GRCm39) M171T possibly damaging Het
Slc30a5 A G 13: 100,939,941 (GRCm39) V658A probably damaging Het
Slc41a2 T C 10: 83,152,455 (GRCm39) R7G possibly damaging Het
Slc44a2 A G 9: 21,258,338 (GRCm39) T500A probably damaging Het
Slc44a4 G T 17: 35,142,786 (GRCm39) G396V possibly damaging Het
Smarca5 A G 8: 81,446,199 (GRCm39) probably benign Het
St8sia6 T A 2: 13,798,156 (GRCm39) R34W probably damaging Het
Stk-ps2 T A 1: 46,069,337 (GRCm39) noncoding transcript Het
Stn1 T C 19: 47,502,329 (GRCm39) Y235C probably damaging Het
Tbx15 A G 3: 99,259,800 (GRCm39) Y557C probably damaging Het
Tgfbr1 G A 4: 47,393,490 (GRCm39) probably null Het
Thsd7b G T 1: 129,523,508 (GRCm39) V181L probably damaging Het
Tmpo G A 10: 90,999,104 (GRCm39) R228C probably benign Het
Trpm4 T G 7: 44,976,422 (GRCm39) R51S probably damaging Het
Vmn1r91 A T 7: 19,835,671 (GRCm39) T197S probably damaging Het
Vmn2r-ps158 T C 7: 42,697,160 (GRCm39) I739T probably damaging Het
Xrn1 A G 9: 95,859,880 (GRCm39) D424G probably benign Het
Yap1 A G 9: 7,962,282 (GRCm39) probably null Het
Zer1 T C 2: 30,003,405 (GRCm39) D4G probably damaging Het
Zfp462 A T 4: 55,010,292 (GRCm39) I753F possibly damaging Het
Other mutations in Dnajc27
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7354:Dnajc27 UTSW 12 4,146,249 (GRCm39) missense probably benign
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
Posted On 2015-04-16