Incidental Mutation 'IGL02065:Dnajc16'
ID 185616
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 4732437J24Rik, 2900037O03Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.807) question?
Stock # IGL02065
Quality Score
Status
Chromosome 4
Chromosomal Location 141760189-141790931 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 141776933 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 239 (F239I)
Ref Sequence ENSEMBL: ENSMUSP00000048714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038014]
AlphaFold Q80TN4
PDB Structure Solution structure of the J domain of the pseudo DnaJ protein, mouse hypothetical mKIAA0962 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000038014
AA Change: F239I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048714
Gene: ENSMUSG00000040697
AA Change: F239I

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C T 17: 46,312,901 E770K possibly damaging Het
Abhd17a C A 10: 80,586,561 A22S probably benign Het
Actbl2 A G 13: 111,255,691 T187A probably benign Het
Adgrl3 G A 5: 81,512,217 G278R probably damaging Het
Apoh C A 11: 108,414,305 probably benign Het
Atp2b2 A G 6: 113,813,867 F192S probably damaging Het
Bdh1 T C 16: 31,449,936 I163T possibly damaging Het
Bmp1 G T 14: 70,486,220 N725K probably damaging Het
Bmp1 T A 14: 70,490,107 I679F probably damaging Het
Bmp2 T A 2: 133,560,924 F132I probably benign Het
Bpifb5 T C 2: 154,227,183 L140P probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Carmil3 T C 14: 55,493,822 probably benign Het
Ccdc57 T C 11: 120,873,760 T730A possibly damaging Het
Cdh10 G T 15: 19,013,256 K647N probably damaging Het
Cdh17 A C 4: 11,771,373 probably benign Het
Cep126 A G 9: 8,099,924 S870P probably benign Het
Col6a4 T C 9: 106,077,103 T346A probably damaging Het
Csmd3 A C 15: 47,666,628 V2592G probably damaging Het
F5 G A 1: 164,190,126 V591M probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fchsd2 T G 7: 101,177,222 probably null Het
Flad1 A T 3: 89,408,987 D89E probably damaging Het
Fsd1 C A 17: 55,996,499 P457Q probably damaging Het
Gm21985 A G 2: 112,357,584 D1012G possibly damaging Het
Gon4l A G 3: 88,857,210 D366G probably null Het
Hadha A G 5: 30,142,845 probably benign Het
Kdr A G 5: 75,961,853 probably benign Het
Kyat3 A G 3: 142,720,375 K24R probably benign Het
Map3k21 A G 8: 125,941,658 D661G probably benign Het
Mical1 A T 10: 41,484,411 K615N possibly damaging Het
Ncor1 T C 11: 62,419,609 K204E possibly damaging Het
Nmral1 T A 16: 4,716,482 I32F probably benign Het
Nrros T C 16: 32,144,674 D175G possibly damaging Het
Olfr1329 G A 4: 118,916,771 T232I probably benign Het
Olfr536 T C 7: 140,504,164 I98M probably benign Het
Ryr2 A G 13: 11,572,257 F4713L possibly damaging Het
Serpinb1b G A 13: 33,091,318 G142D possibly damaging Het
Slc10a1 A G 12: 80,960,474 S178P possibly damaging Het
Spint1 G A 2: 119,238,217 R144H probably benign Het
Sult6b1 C T 17: 78,889,075 G213R probably damaging Het
Themis3 G T 17: 66,555,905 H353N probably benign Het
Tpr T C 1: 150,413,774 S619P probably benign Het
Ttn A T 2: 76,814,790 V11161E probably damaging Het
Usp13 G A 3: 32,933,165 V837I probably damaging Het
Usp25 T C 16: 77,083,782 V677A probably benign Het
Wdr62 A G 7: 30,243,469 V1001A possibly damaging Het
Whrn A T 4: 63,418,585 I580N possibly damaging Het
Wls T A 3: 159,911,356 V344D probably damaging Het
Zan A T 5: 137,386,960 Y5070* probably null Het
Other mutations in Dnajc16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Dnajc16 APN 4 141763563 splice site probably null
IGL00840:Dnajc16 APN 4 141768003 missense probably damaging 1.00
IGL01503:Dnajc16 APN 4 141763697 missense possibly damaging 0.65
IGL01919:Dnajc16 APN 4 141774629 missense probably benign 0.06
IGL02544:Dnajc16 APN 4 141764647 missense probably damaging 1.00
IGL03028:Dnajc16 APN 4 141767732 nonsense probably null
PIT4418001:Dnajc16 UTSW 4 141770949 missense probably damaging 0.99
PIT4585001:Dnajc16 UTSW 4 141764685 missense probably damaging 1.00
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
R7062:Dnajc16 UTSW 4 141766690 missense probably damaging 1.00
R7441:Dnajc16 UTSW 4 141763813 missense probably damaging 1.00
R7684:Dnajc16 UTSW 4 141774568 missense probably benign 0.02
R8843:Dnajc16 UTSW 4 141764691 missense possibly damaging 0.87
R8924:Dnajc16 UTSW 4 141766707 nonsense probably null
R9005:Dnajc16 UTSW 4 141764634 missense possibly damaging 0.95
R9053:Dnajc16 UTSW 4 141783060 missense probably benign 0.28
R9550:Dnajc16 UTSW 4 141767747 missense possibly damaging 0.95
Posted On 2014-05-07