Incidental Mutation 'IGL01919:Dnajc16'
ID180057
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc16
Ensembl Gene ENSMUSG00000040697
Gene NameDnaJ heat shock protein family (Hsp40) member C16
Synonyms4732437J24Rik, 2900037O03Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.625) question?
Stock #IGL01919
Quality Score
Status
Chromosome4
Chromosomal Location141760189-141790931 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 141774629 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 297 (S297P)
Ref Sequence ENSEMBL: ENSMUSP00000048714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038014]
PDB Structure
Solution structure of the J domain of the pseudo DnaJ protein, mouse hypothetical mKIAA0962 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000038014
AA Change: S297P

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000048714
Gene: ENSMUSG00000040697
AA Change: S297P

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 noncoding transcript
Transcript: ENSMUST00000138654
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,475,523 probably null Het
Alms1 T C 6: 85,628,004 F2212S possibly damaging Het
Anpep T C 7: 79,825,350 I155V possibly damaging Het
Aoc1 G A 6: 48,908,289 V653M probably damaging Het
Arl8b T C 6: 108,821,557 probably benign Het
Bax A C 7: 45,466,128 probably null Het
Cpne7 G A 8: 123,125,643 E195K probably damaging Het
Csmd3 A G 15: 47,675,772 I2330T possibly damaging Het
Farp2 A G 1: 93,576,433 K311E probably damaging Het
Fhad1 A G 4: 141,964,595 L410P probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm12185 T C 11: 48,908,059 T536A possibly damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hydin C T 8: 110,519,174 T2173I possibly damaging Het
Kpnb1 A G 11: 97,164,730 V783A probably benign Het
Krt1 A G 15: 101,846,376 V509A unknown Het
Lrwd1 A T 5: 136,135,875 L26* probably null Het
Mal2 T A 15: 54,588,332 W50R probably damaging Het
Map3k21 A T 8: 125,942,132 E819V probably damaging Het
Mrgprx3-ps T C 7: 47,310,211 T11A probably benign Het
Mroh2b T C 15: 4,923,688 F635L probably benign Het
Mylip G A 13: 45,408,702 E327K probably damaging Het
Nfix T C 8: 84,726,474 D308G probably damaging Het
Olfr355 G A 2: 36,927,812 Q101* probably null Het
Olfr857 G A 9: 19,713,342 V172I probably benign Het
Psma6 A G 12: 55,407,469 E26G probably damaging Het
Rgs16 T A 1: 153,742,058 S105T probably damaging Het
Slc25a23 T A 17: 57,047,291 N372Y possibly damaging Het
Slc35e2 A G 4: 155,612,730 M234V probably benign Het
Tbc1d8 A G 1: 39,392,253 V346A probably damaging Het
Tgfb1i1 C T 7: 128,248,482 probably benign Het
Triml2 A C 8: 43,190,312 T177P probably damaging Het
Uba6 T C 5: 86,119,386 T959A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Dnajc16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Dnajc16 APN 4 141763563 unclassified probably null
IGL00840:Dnajc16 APN 4 141768003 missense probably damaging 1.00
IGL01503:Dnajc16 APN 4 141763697 missense possibly damaging 0.65
IGL02065:Dnajc16 APN 4 141776933 missense probably damaging 1.00
IGL02544:Dnajc16 APN 4 141764647 missense probably damaging 1.00
IGL03028:Dnajc16 APN 4 141767732 nonsense probably null
R0071:Dnajc16 UTSW 4 141768007 missense probably benign
R0415:Dnajc16 UTSW 4 141789048 nonsense probably null
R0532:Dnajc16 UTSW 4 141789009 missense probably damaging 1.00
R1418:Dnajc16 UTSW 4 141767741 nonsense probably null
R2959:Dnajc16 UTSW 4 141766545 nonsense probably null
R3025:Dnajc16 UTSW 4 141774611 missense probably benign
R3796:Dnajc16 UTSW 4 141767737 missense probably benign
R3854:Dnajc16 UTSW 4 141763653 nonsense probably null
R3856:Dnajc16 UTSW 4 141763653 nonsense probably null
R4661:Dnajc16 UTSW 4 141763548 missense probably damaging 1.00
R4841:Dnajc16 UTSW 4 141774625 missense probably damaging 1.00
R4842:Dnajc16 UTSW 4 141774625 missense probably damaging 1.00
R5116:Dnajc16 UTSW 4 141767969 nonsense probably null
R5126:Dnajc16 UTSW 4 141774509 missense probably benign 0.01
R5140:Dnajc16 UTSW 4 141764683 missense possibly damaging 0.85
R5275:Dnajc16 UTSW 4 141767928 missense possibly damaging 0.82
R5295:Dnajc16 UTSW 4 141767928 missense possibly damaging 0.82
R5891:Dnajc16 UTSW 4 141775392 missense probably benign
R6888:Dnajc16 UTSW 4 141776992 missense probably benign 0.24
Posted On2014-05-07