Incidental Mutation 'IGL02544:Dnajc16'
ID297757
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: 0.685) question?
Stock #IGL02544
Quality Score
Status
Chromosome4
Chromosomal Location141760189-141790931 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 141764647 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 622 (N622D)
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 damaging
Transcript: ENSMUST00000038014
AA Change: N622D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048714
Gene: ENSMUSG00000040697
AA Change: N622D

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931428F04Rik C T 8: 105,283,460 V286M probably benign Het
Aasdh A C 5: 76,902,114 S12A probably benign Het
Abcb5 A T 12: 118,906,268 probably benign Het
Acap3 G A 4: 155,892,410 E6K possibly damaging Het
Ano3 A T 2: 110,658,249 I946K possibly damaging Het
Arid1a A G 4: 133,681,748 V1816A unknown Het
Cacna1c C T 6: 118,751,479 G335R probably damaging Het
Ccnh C A 13: 85,202,341 Y118* probably null Het
Cep76 C T 18: 67,634,950 probably benign Het
Cyp2c65 T C 19: 39,090,638 V387A probably damaging Het
Dapk1 T G 13: 60,751,217 S834A probably benign Het
Ddx39 T C 8: 83,722,773 S367P probably benign Het
Dicer1 A G 12: 104,714,832 I474T probably damaging Het
Dnah10 G A 5: 124,799,005 R2579H probably benign Het
Eif3c G T 7: 126,547,612 S799* probably null Het
Fbxo9 A G 9: 78,087,259 Y259H probably damaging Het
Fpr-rs4 A T 17: 18,022,211 H160L probably benign Het
Galc A T 12: 98,231,442 V336D probably benign Het
Gm14548 T A 7: 3,897,186 Y139F probably damaging Het
Mfrp T C 9: 44,102,794 L153P probably damaging Het
Mtx1 C A 3: 89,210,396 W30L probably damaging Het
Mysm1 A T 4: 94,952,306 D624E probably damaging Het
Naa16 A G 14: 79,335,820 F837L probably damaging Het
Olfr1118 C T 2: 87,309,127 R113C possibly damaging Het
Olfr193 A T 16: 59,110,144 H155Q probably damaging Het
Olfr346 A G 2: 36,688,836 Y278C probably damaging Het
Olfr705 T C 7: 106,714,535 I49V probably benign Het
Pde4d G T 13: 109,740,523 D137Y probably damaging Het
Pik3r1 G T 13: 101,687,276 R534S probably damaging Het
Plekha5 A C 6: 140,589,728 E239A possibly damaging Het
Psap G T 10: 60,300,626 probably benign Het
Rap2b T C 3: 61,365,139 F28S probably damaging Het
Rfc5 A T 5: 117,386,866 probably benign Het
Ryr1 C T 7: 29,115,599 D175N probably benign Het
Sbno1 T G 5: 124,403,983 I370L probably damaging Het
Slc17a6 T A 7: 51,666,155 C390* probably null Het
Srsf7 A T 17: 80,204,191 probably benign Het
Tbc1d10c C T 19: 4,187,960 D272N probably benign Het
Tll2 A G 19: 41,135,965 F204L probably damaging Het
Tmc1 T A 19: 20,906,963 T38S probably benign Het
Tmem184b A T 15: 79,365,807 I256K probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trip11 G A 12: 101,893,521 R365W probably damaging Het
Ubr4 C T 4: 139,415,118 P1339S probably damaging Het
Vmn2r83 T A 10: 79,481,459 probably benign 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
IGL02065:Dnajc16 APN 4 141776933 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
Posted On2015-04-16