Incidental Mutation 'IGL01503:Dnajc16'
ID 88953
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc16
Ensembl Gene ENSMUSG00000040697
Gene Name DnaJ heat shock protein family (Hsp40) member C16
Synonyms 2900037O03Rik, 4732437J24Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.724) question?
Stock # IGL01503
Quality Score
Status
Chromosome 4
Chromosomal Location 141487500-141518242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 141491008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 714 (T714I)
Ref Sequence ENSEMBL: ENSMUSP00000048714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038014] [ENSMUST00000038161]
AlphaFold Q80TN4
PDB Structure Solution structure of the J domain of the pseudo DnaJ protein, mouse hypothetical mKIAA0962 [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000038014
AA Change: T714I

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000048714
Gene: ENSMUSG00000040697
AA Change: T714I

DomainStartEndE-ValueType
DnaJ 28 85 4.5e-30 SMART
Pfam:Thioredoxin 142 243 4.4e-8 PFAM
low complexity region 537 549 N/A INTRINSIC
low complexity region 730 750 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000038161
SMART Domains Protein: ENSMUSP00000040853
Gene: ENSMUSG00000040706

DomainStartEndE-ValueType
low complexity region 44 62 N/A INTRINSIC
Pfam:Arginase 77 351 9.8e-85 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T A 16: 88,971,757 (GRCm39) Y26* probably null Het
Aadacl4fm4 T A 4: 144,401,137 (GRCm39) I116F probably damaging Het
Arpc1a T C 5: 145,032,964 (GRCm39) V91A probably damaging Het
Atp2a1 T A 7: 126,047,750 (GRCm39) I687F probably damaging Het
B3gnt5 A C 16: 19,588,531 (GRCm39) Y250S probably damaging Het
Brip1 A G 11: 85,952,703 (GRCm39) V1026A probably benign Het
C1s2 T C 6: 124,602,612 (GRCm39) D527G probably damaging Het
Chrna5 T A 9: 54,905,455 (GRCm39) probably benign Het
Cltc C A 11: 86,586,526 (GRCm39) probably benign Het
Dgkh T G 14: 78,853,710 (GRCm39) I439L possibly damaging Het
Fam13a A T 6: 58,933,065 (GRCm39) I349N probably damaging Het
Fig4 C T 10: 41,132,514 (GRCm39) D431N probably benign Het
Gabra4 A T 5: 71,798,429 (GRCm39) N183K possibly damaging Het
Ggt5 C T 10: 75,445,944 (GRCm39) probably benign Het
Hdac6 A G X: 7,798,418 (GRCm39) L798P probably damaging Het
Hectd4 T C 5: 121,456,714 (GRCm39) V2030A probably benign Het
Hecw2 A G 1: 53,866,120 (GRCm39) Y1514H probably damaging Het
Hmcn1 T C 1: 150,480,823 (GRCm39) D4451G probably benign Het
Krtcap3 T C 5: 31,409,167 (GRCm39) probably benign Het
Ltn1 A T 16: 87,217,695 (GRCm39) probably benign Het
Mapkapk2 T C 1: 130,986,499 (GRCm39) M1V probably null Het
Mical3 A T 6: 120,935,537 (GRCm39) I1663N probably benign Het
Mvp G T 7: 126,601,133 (GRCm39) probably benign Het
Myo5c A G 9: 75,170,324 (GRCm39) I485V probably damaging Het
N4bp2 T A 5: 65,960,890 (GRCm39) C520* probably null Het
Nos2 A G 11: 78,836,689 (GRCm39) probably benign Het
Ogdh G A 11: 6,305,069 (GRCm39) V925M probably damaging Het
Pde2a T A 7: 101,151,143 (GRCm39) probably benign Het
Plpp6 A G 19: 28,942,279 (GRCm39) *293W probably null Het
Pole T A 5: 110,451,750 (GRCm39) I864K probably damaging Het
Rexo4 A T 2: 26,850,645 (GRCm39) I239N probably benign Het
Scn1a T A 2: 66,152,687 (GRCm39) I748F probably damaging Het
Sfmbt2 A T 2: 10,584,165 (GRCm39) R841* probably null Het
Sh3bp5l A G 11: 58,228,827 (GRCm39) N100S probably damaging Het
Spic T A 10: 88,511,623 (GRCm39) D211V probably damaging Het
Stab2 A G 10: 86,776,477 (GRCm39) probably benign Het
Tshr A G 12: 91,478,708 (GRCm39) Y83C probably damaging Het
Vsir A G 10: 60,204,373 (GRCm39) E172G probably damaging Het
Wwp2 T C 8: 108,276,413 (GRCm39) S508P probably damaging Het
Other mutations in Dnajc16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Dnajc16 APN 4 141,490,874 (GRCm39) splice site probably null
IGL00840:Dnajc16 APN 4 141,495,314 (GRCm39) missense probably damaging 1.00
IGL01919:Dnajc16 APN 4 141,501,940 (GRCm39) missense probably benign 0.06
IGL02065:Dnajc16 APN 4 141,504,244 (GRCm39) missense probably damaging 1.00
IGL02544:Dnajc16 APN 4 141,491,958 (GRCm39) missense probably damaging 1.00
IGL03028:Dnajc16 APN 4 141,495,043 (GRCm39) nonsense probably null
PIT4418001:Dnajc16 UTSW 4 141,498,260 (GRCm39) missense probably damaging 0.99
PIT4585001:Dnajc16 UTSW 4 141,491,996 (GRCm39) missense probably damaging 1.00
R0071:Dnajc16 UTSW 4 141,495,318 (GRCm39) missense probably benign
R0415:Dnajc16 UTSW 4 141,516,359 (GRCm39) nonsense probably null
R0532:Dnajc16 UTSW 4 141,516,320 (GRCm39) missense probably damaging 1.00
R1418:Dnajc16 UTSW 4 141,495,052 (GRCm39) nonsense probably null
R2959:Dnajc16 UTSW 4 141,493,856 (GRCm39) nonsense probably null
R3025:Dnajc16 UTSW 4 141,501,922 (GRCm39) missense probably benign
R3796:Dnajc16 UTSW 4 141,495,048 (GRCm39) missense probably benign
R3854:Dnajc16 UTSW 4 141,490,964 (GRCm39) nonsense probably null
R3856:Dnajc16 UTSW 4 141,490,964 (GRCm39) nonsense probably null
R4661:Dnajc16 UTSW 4 141,490,859 (GRCm39) missense probably damaging 1.00
R4841:Dnajc16 UTSW 4 141,501,936 (GRCm39) missense probably damaging 1.00
R4842:Dnajc16 UTSW 4 141,501,936 (GRCm39) missense probably damaging 1.00
R5116:Dnajc16 UTSW 4 141,495,280 (GRCm39) nonsense probably null
R5126:Dnajc16 UTSW 4 141,501,820 (GRCm39) missense probably benign 0.01
R5140:Dnajc16 UTSW 4 141,491,994 (GRCm39) missense possibly damaging 0.85
R5275:Dnajc16 UTSW 4 141,495,239 (GRCm39) missense possibly damaging 0.82
R5295:Dnajc16 UTSW 4 141,495,239 (GRCm39) missense possibly damaging 0.82
R5891:Dnajc16 UTSW 4 141,502,703 (GRCm39) missense probably benign
R6888:Dnajc16 UTSW 4 141,504,303 (GRCm39) missense probably benign 0.24
R7062:Dnajc16 UTSW 4 141,494,001 (GRCm39) missense probably damaging 1.00
R7441:Dnajc16 UTSW 4 141,491,124 (GRCm39) missense probably damaging 1.00
R7684:Dnajc16 UTSW 4 141,501,879 (GRCm39) missense probably benign 0.02
R8843:Dnajc16 UTSW 4 141,492,002 (GRCm39) missense possibly damaging 0.87
R8924:Dnajc16 UTSW 4 141,494,018 (GRCm39) nonsense probably null
R9005:Dnajc16 UTSW 4 141,491,945 (GRCm39) missense possibly damaging 0.95
R9053:Dnajc16 UTSW 4 141,510,371 (GRCm39) missense probably benign 0.28
R9550:Dnajc16 UTSW 4 141,495,058 (GRCm39) missense possibly damaging 0.95
Posted On 2013-12-03