Incidental Mutation 'IGL02888:Dnajc27'
ID 363070
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 # IGL02888
Quality Score
Status
Chromosome 12
Chromosomal Location 4132583-4160606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4139186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 75 (H75Y)
Ref Sequence ENSEMBL: ENSMUSP00000151848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020986] [ENSMUST00000049584] [ENSMUST00000219923]
AlphaFold Q8CFP6
Predicted Effect possibly damaging
Transcript: ENSMUST00000020986
AA Change: H75Y

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020986
Gene: ENSMUSG00000020657
AA Change: H75Y

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 possibly damaging
Transcript: ENSMUST00000049584
AA Change: H75Y

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106803
Gene: ENSMUSG00000020657
AA Change: H75Y

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 possibly damaging
Transcript: ENSMUST00000219923
AA Change: H75Y

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,104,610 (GRCm39) H345R probably damaging Het
Afap1l1 T A 18: 61,881,879 (GRCm39) Y272F probably damaging Het
AI661453 C A 17: 47,778,329 (GRCm39) probably benign Het
Ajap1 T G 4: 153,516,718 (GRCm39) I208L probably benign Het
Aldh3b2 G A 19: 4,030,083 (GRCm39) V356M probably benign Het
Angptl7 T A 4: 148,580,788 (GRCm39) probably benign Het
Atp2a3 G A 11: 72,867,954 (GRCm39) probably benign Het
Birc2 T C 9: 7,819,559 (GRCm39) D451G probably benign Het
Brpf3 G A 17: 29,047,365 (GRCm39) R1043H probably damaging Het
Cd177 A G 7: 24,457,862 (GRCm39) L132P probably damaging Het
Chsy3 A G 18: 59,543,067 (GRCm39) D735G probably benign Het
Cldn8 A T 16: 88,359,271 (GRCm39) I218K probably benign Het
Cltc T C 11: 86,648,123 (GRCm39) probably benign Het
Col22a1 T C 15: 71,718,068 (GRCm39) H619R unknown Het
Crxos G A 7: 15,636,855 (GRCm39) E143K possibly damaging Het
Dcp1b A G 6: 119,197,048 (GRCm39) probably benign Het
Ddc A G 11: 11,772,297 (GRCm39) probably benign Het
Dnajc13 A T 9: 104,057,261 (GRCm39) probably benign Het
Fgd3 C T 13: 49,435,292 (GRCm39) probably null Het
Gcc2 A G 10: 58,130,650 (GRCm39) D1414G probably damaging Het
Gtf3c2 G A 5: 31,331,169 (GRCm39) P169L probably damaging Het
Ighv1-76 T A 12: 115,811,566 (GRCm39) S96C probably damaging Het
Lmbrd1 T A 1: 24,754,053 (GRCm39) I206K possibly damaging Het
Lypd5 A G 7: 24,052,044 (GRCm39) S120G probably damaging Het
Mgat4b T A 11: 50,123,159 (GRCm39) Y249N probably damaging Het
Msh4 A T 3: 153,602,550 (GRCm39) L32* probably null Het
Muc4 A G 16: 32,575,656 (GRCm39) probably benign Het
Myo6 A G 9: 80,177,013 (GRCm39) probably benign Het
Nenf T C 1: 191,042,118 (GRCm39) T113A probably benign Het
Nup85 A G 11: 115,469,626 (GRCm39) D75G possibly damaging Het
Nutm1 A T 2: 112,080,980 (GRCm39) L438Q probably damaging Het
Oas1h A T 5: 120,999,610 (GRCm39) I32F probably benign Het
Oasl1 G A 5: 115,075,241 (GRCm39) V434M probably damaging Het
Or2a5 A G 6: 42,874,263 (GRCm39) N293D probably damaging Het
Or9s27 T C 1: 92,516,925 (GRCm39) L291P probably damaging Het
Pde2a C A 7: 101,154,276 (GRCm39) H549Q probably damaging Het
Phkb G T 8: 86,662,101 (GRCm39) probably null Het
Pigm T C 1: 172,205,214 (GRCm39) C317R probably damaging Het
Ppl A T 16: 4,918,271 (GRCm39) S470R possibly damaging Het
Pramel14 G A 4: 143,720,669 (GRCm39) R91W probably benign Het
Slc13a4 A T 6: 35,245,775 (GRCm39) D623E probably benign Het
Stx11 A G 10: 12,817,359 (GRCm39) S122P possibly damaging Het
Sytl3 A G 17: 7,000,483 (GRCm39) T218A probably benign Het
Tango6 A G 8: 107,447,297 (GRCm39) D565G probably damaging Het
Tex14 T C 11: 87,418,738 (GRCm39) probably null Het
Tinag T C 9: 76,938,995 (GRCm39) D161G probably benign Het
Vcpip1 T C 1: 9,795,011 (GRCm39) D1120G probably damaging Het
Zfp446 G A 7: 12,713,255 (GRCm39) A98T probably damaging Het
Other mutations in Dnajc27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02338:Dnajc27 APN 12 4,146,229 (GRCm39) missense probably damaging 1.00
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 2015-12-18