Incidental Mutation 'IGL02888:Dnajc27'
ID363070
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc27
Ensembl Gene ENSMUSG00000020657
Gene NameDnaJ heat shock protein family (Hsp40) member C27
SynonymsRabj, Rbj, C330021A05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.141) question?
Stock #IGL02888
Quality Score
Status
Chromosome12
Chromosomal Location4082583-4110606 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 4089186 bp
ZygosityHeterozygous
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]
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: 43,651,573 H345R probably damaging Het
Afap1l1 T A 18: 61,748,808 Y272F probably damaging Het
AI661453 C A 17: 47,467,404 probably benign Het
Ajap1 T G 4: 153,432,261 I208L probably benign Het
Aldh3b2 G A 19: 3,980,083 V356M probably benign Het
Angptl7 T A 4: 148,496,331 probably benign Het
Atp2a3 G A 11: 72,977,128 probably benign Het
Birc2 T C 9: 7,819,558 D451G probably benign Het
Brpf3 G A 17: 28,828,391 R1043H probably damaging Het
Cd177 A G 7: 24,758,437 L132P probably damaging Het
Chsy3 A G 18: 59,409,995 D735G probably benign Het
Cldn8 A T 16: 88,562,383 I218K probably benign Het
Cltc T C 11: 86,757,297 probably benign Het
Col22a1 T C 15: 71,846,219 H619R unknown Het
Crxos G A 7: 15,902,930 E143K possibly damaging Het
Dcp1b A G 6: 119,220,087 probably benign Het
Ddc A G 11: 11,822,297 probably benign Het
Dnajc13 A T 9: 104,180,062 probably benign Het
Fgd3 C T 13: 49,281,816 probably null Het
Gcc2 A G 10: 58,294,828 D1414G probably damaging Het
Gtf3c2 G A 5: 31,173,825 P169L probably damaging Het
Ighv1-76 T A 12: 115,847,946 S96C probably damaging Het
Lmbrd1 T A 1: 24,714,972 I206K possibly damaging Het
Lypd5 A G 7: 24,352,619 S120G probably damaging Het
Mgat4b T A 11: 50,232,332 Y249N probably damaging Het
Msh4 A T 3: 153,896,913 L32* probably null Het
Muc4 A G 16: 32,755,282 probably benign Het
Myo6 A G 9: 80,269,731 probably benign Het
Nenf T C 1: 191,309,921 T113A probably benign Het
Nup85 A G 11: 115,578,800 D75G possibly damaging Het
Nutm1 A T 2: 112,250,635 L438Q probably damaging Het
Oas1h A T 5: 120,861,547 I32F probably benign Het
Oasl1 G A 5: 114,937,182 V434M probably damaging Het
Olfr1412 T C 1: 92,589,203 L291P probably damaging Het
Olfr448 A G 6: 42,897,329 N293D probably damaging Het
Pde2a C A 7: 101,505,069 H549Q probably damaging Het
Phkb G T 8: 85,935,472 probably null Het
Pigm T C 1: 172,377,647 C317R probably damaging Het
Ppl A T 16: 5,100,407 S470R possibly damaging Het
Pramef17 G A 4: 143,994,099 R91W probably benign Het
Slc13a4 A T 6: 35,268,840 D623E probably benign Het
Stx11 A G 10: 12,941,615 S122P possibly damaging Het
Sytl3 A G 17: 6,733,084 T218A probably benign Het
Tango6 A G 8: 106,720,665 D565G probably damaging Het
Tex14 T C 11: 87,527,912 probably null Het
Tinag T C 9: 77,031,713 D161G probably benign Het
Vcpip1 T C 1: 9,724,786 D1120G probably damaging Het
Zfp446 G A 7: 12,979,328 A98T probably damaging Het
Other mutations in Dnajc27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02338:Dnajc27 APN 12 4096229 missense probably damaging 1.00
R0101:Dnajc27 UTSW 12 4089142 missense probably benign 0.05
R0304:Dnajc27 UTSW 12 4106793 splice site probably benign
R2005:Dnajc27 UTSW 12 4097317 missense possibly damaging 0.83
R2912:Dnajc27 UTSW 12 4096280 missense probably damaging 0.98
R6622:Dnajc27 UTSW 12 4103114 missense probably benign 0.00
R6824:Dnajc27 UTSW 12 4106897 missense possibly damaging 0.80
X0028:Dnajc27 UTSW 12 4103130 missense probably damaging 0.99
Posted On2015-12-18