Incidental Mutation 'IGL03211:Dnajc8'
ID 413305
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc8
Ensembl Gene ENSMUSG00000054405
Gene Name DnaJ heat shock protein family (Hsp40) member C8
Synonyms 1110021D09Rik, 2010009J04Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03211
Quality Score
Status
Chromosome 4
Chromosomal Location 132262861-132281053 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 132272048 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q6NZB0
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 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 noncoding transcript
Transcript: ENSMUST00000142281
Predicted Effect probably benign
Transcript: ENSMUST00000156385
SMART Domains Protein: ENSMUSP00000125885
Gene: ENSMUSG00000054405

DomainStartEndE-ValueType
coiled coil region 23 69 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 probably benign
Transcript: ENSMUST00000144073
SMART Domains Protein: ENSMUSP00000131575
Gene: ENSMUSG00000054405

DomainStartEndE-ValueType
low complexity region 2 19 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: 172,714,676 (GRCm39) V378I possibly damaging Het
Cd209b G T 8: 3,968,830 (GRCm39) probably benign Het
Cilp A T 9: 65,187,457 (GRCm39) Q1184L probably benign Het
Cysltr2 A T 14: 73,267,155 (GRCm39) M185K possibly damaging Het
Dcaf6 A G 1: 165,250,502 (GRCm39) F121L possibly damaging Het
Ebf3 A G 7: 136,833,033 (GRCm39) V214A probably benign Het
Elavl3 A G 9: 21,929,974 (GRCm39) V310A probably damaging Het
Emc2 C T 15: 43,371,068 (GRCm39) R131* probably null Het
Hcn4 G A 9: 58,765,434 (GRCm39) V639M unknown Het
Kif21a T G 15: 90,882,166 (GRCm39) D46A possibly damaging Het
Kitl T C 10: 99,916,721 (GRCm39) S175P probably benign Het
Klhl32 C T 4: 24,792,616 (GRCm39) probably null Het
Plcg1 C T 2: 160,601,611 (GRCm39) T972I possibly damaging Het
Prdm13 T C 4: 21,678,492 (GRCm39) H666R probably damaging Het
Rap1gap G A 4: 137,443,157 (GRCm39) probably null Het
Rdh7 T C 10: 127,723,492 (GRCm39) N121S probably benign Het
Ric8b T A 10: 84,837,657 (GRCm39) I488N probably damaging Het
Slc38a2 A T 15: 96,596,153 (GRCm39) probably null Het
Slc9a9 G A 9: 95,020,043 (GRCm39) probably benign Het
Tk2 T A 8: 104,970,073 (GRCm39) I64F probably damaging Het
Virma G A 4: 11,548,770 (GRCm39) W1776* probably null Het
Vrk1 C T 12: 106,002,847 (GRCm39) A15V probably benign Het
Wdfy3 T C 5: 101,992,778 (GRCm39) probably benign Het
Wfdc10 T C 2: 164,499,172 (GRCm39) V94A probably benign Het
Zfp780b A T 7: 27,662,600 (GRCm39) C652S possibly damaging Het
Other mutations in Dnajc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
pith UTSW 4 132,272,031 (GRCm39) missense probably damaging 0.98
R2130:Dnajc8 UTSW 4 132,271,370 (GRCm39) missense possibly damaging 0.95
R3077:Dnajc8 UTSW 4 132,271,974 (GRCm39) missense probably damaging 1.00
R5621:Dnajc8 UTSW 4 132,280,563 (GRCm39) unclassified probably benign
R6921:Dnajc8 UTSW 4 132,272,031 (GRCm39) missense probably damaging 0.98
R6925:Dnajc8 UTSW 4 132,271,424 (GRCm39) missense probably damaging 0.99
R7255:Dnajc8 UTSW 4 132,278,884 (GRCm39) missense probably benign 0.20
R8054:Dnajc8 UTSW 4 132,272,068 (GRCm39) unclassified probably benign
R8243:Dnajc8 UTSW 4 132,278,775 (GRCm39) splice site probably null
R9779:Dnajc8 UTSW 4 132,277,737 (GRCm39) missense possibly damaging 0.89
Posted On 2016-08-02