Incidental Mutation 'IGL03211:Dnajc8'
ID413305
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc8
Ensembl Gene ENSMUSG00000054405
Gene NameDnaJ heat shock protein family (Hsp40) member C8
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03211
Quality Score
Status
Chromosome4
Chromosomal Location132535550-132553742 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 132544737 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 95 (Y95N)
Ref Sequence ENSEMBL: ENSMUSP00000101559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067467] [ENSMUST00000094657] [ENSMUST00000105939] [ENSMUST00000105940] [ENSMUST00000138334] [ENSMUST00000139074] [ENSMUST00000144073]
Predicted Effect probably benign
Transcript: ENSMUST00000067467
SMART Domains Protein: ENSMUSP00000068069
Gene: ENSMUSG00000054405

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
SCOP:d1repc1 23 79 4e-5 SMART
Blast:DnaJ 56 79 6e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083689
Predicted Effect probably benign
Transcript: ENSMUST00000094657
AA Change: Y129N

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000092242
Gene: ENSMUSG00000054405
AA Change: Y129N

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
DnaJ 56 115 2.65e-18 SMART
low complexity region 135 146 N/A INTRINSIC
coiled coil region 164 210 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000105938
Predicted Effect possibly damaging
Transcript: ENSMUST00000105939
AA Change: Y95N

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101559
Gene: ENSMUSG00000054405
AA Change: Y95N

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
DnaJ 22 81 2.09e-16 SMART
low complexity region 101 112 N/A INTRINSIC
coiled coil region 130 176 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105940
AA Change: Y110N

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000101560
Gene: ENSMUSG00000054405
AA Change: Y110N

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
DnaJ 56 96 2.15e-1 SMART
low complexity region 116 127 N/A INTRINSIC
coiled coil region 145 191 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138334
SMART Domains Protein: ENSMUSP00000130135
Gene: ENSMUSG00000054405

DomainStartEndE-ValueType
DnaJ 38 84 4.42e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139074
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142281
Predicted Effect probably benign
Transcript: ENSMUST00000144073
SMART Domains Protein: ENSMUSP00000131575
Gene: ENSMUSG00000054405

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000150207
AA Change: Y104N
SMART Domains Protein: ENSMUSP00000121009
Gene: ENSMUSG00000054405
AA Change: Y104N

DomainStartEndE-ValueType
DnaJ 32 91 2.65e-18 SMART
low complexity region 111 122 N/A INTRINSIC
low complexity region 178 190 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156385
SMART Domains Protein: ENSMUSP00000125885
Gene: ENSMUSG00000054405

DomainStartEndE-ValueType
coiled coil region 23 69 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmp7 C T 2: 172,872,883 V378I possibly damaging Het
Cd209b G T 8: 3,918,830 probably benign Het
Cilp A T 9: 65,280,175 Q1184L probably benign Het
Cysltr2 A T 14: 73,029,715 M185K possibly damaging Het
Dcaf6 A G 1: 165,422,933 F121L possibly damaging Het
Ebf3 A G 7: 137,231,304 V214A probably benign Het
Elavl3 A G 9: 22,018,678 V310A probably damaging Het
Emc2 C T 15: 43,507,672 R131* probably null Het
Hcn4 G A 9: 58,858,151 V639M unknown Het
Kif21a T G 15: 90,997,963 D46A possibly damaging Het
Kitl T C 10: 100,080,859 S175P probably benign Het
Klhl32 C T 4: 24,792,616 probably null Het
Plcg1 C T 2: 160,759,691 T972I possibly damaging Het
Prdm13 T C 4: 21,678,492 H666R probably damaging Het
Rap1gap G A 4: 137,715,846 probably null Het
Rdh7 T C 10: 127,887,623 N121S probably benign Het
Ric8b T A 10: 85,001,793 I488N probably damaging Het
Slc38a2 A T 15: 96,698,272 probably null Het
Slc9a9 G A 9: 95,137,990 probably benign Het
Tk2 T A 8: 104,243,441 I64F probably damaging Het
Virma G A 4: 11,548,770 W1776* probably null Het
Vrk1 C T 12: 106,036,588 A15V probably benign Het
Wdfy3 T C 5: 101,844,912 probably benign Het
Wfdc10 T C 2: 164,657,252 V94A probably benign Het
Zfp780b A T 7: 27,963,175 C652S possibly damaging Het
Other mutations in Dnajc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
pith UTSW 4 132544720 missense probably damaging 0.98
R2130:Dnajc8 UTSW 4 132544059 missense possibly damaging 0.95
R3077:Dnajc8 UTSW 4 132544663 missense probably damaging 1.00
R5621:Dnajc8 UTSW 4 132553252 unclassified probably benign
R6921:Dnajc8 UTSW 4 132544720 missense probably damaging 0.98
R6925:Dnajc8 UTSW 4 132544113 missense probably damaging 0.99
R7255:Dnajc8 UTSW 4 132551573 missense probably benign 0.20
R8054:Dnajc8 UTSW 4 132544757 unclassified probably benign
R8243:Dnajc8 UTSW 4 132551464 splice site probably null
Posted On2016-08-02