Incidental Mutation 'R2886:Dnajc17'
ID 261038
Institutional Source Beutler Lab
Gene Symbol Dnajc17
Ensembl Gene ENSMUSG00000034278
Gene Name DnaJ heat shock protein family (Hsp40) member C17
Synonyms D9Bwg1371e, 1700025B16Rik
MMRRC Submission 040474-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2886 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 119002981-119039276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119009933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 231 (V231A)
Ref Sequence ENSEMBL: ENSMUSP00000041841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038439] [ENSMUST00000069711]
AlphaFold Q91WT4
Predicted Effect probably benign
Transcript: ENSMUST00000038439
AA Change: V231A

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000041841
Gene: ENSMUSG00000034278
AA Change: V231A

DomainStartEndE-ValueType
DnaJ 10 68 3.66e-21 SMART
coiled coil region 112 151 N/A INTRINSIC
low complexity region 172 181 N/A INTRINSIC
Pfam:RRM_1 187 243 1.8e-6 PFAM
Pfam:RRM_5 194 246 1.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125731
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141009
Meta Mutation Damage Score 0.1290 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (38/38)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele die before implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,035,712 (GRCm39) probably benign Het
Bicdl2 G A 17: 23,885,732 (GRCm39) probably null Het
Cables1 A G 18: 12,072,789 (GRCm39) D448G possibly damaging Het
Casq2 A T 3: 102,051,534 (GRCm39) N338I probably damaging Het
Ccr1l1 T C 9: 123,777,553 (GRCm39) N298S probably damaging Het
Ell2 T C 13: 75,911,904 (GRCm39) S397P probably damaging Het
Gm9966 T C 7: 95,607,753 (GRCm39) C25R unknown Het
H2-DMa A G 17: 34,356,121 (GRCm39) N41S probably damaging Het
Helz2 A G 2: 180,882,535 (GRCm39) M86T probably benign Het
Il17rd T A 14: 26,821,510 (GRCm39) I268N probably damaging Het
Ipcef1 C T 10: 6,850,641 (GRCm39) V317M probably damaging Het
Itgae A T 11: 73,031,513 (GRCm39) E1076D probably benign Het
Kcnq5 A T 1: 21,539,771 (GRCm39) Y382* probably null Het
Kif21b G A 1: 136,075,612 (GRCm39) probably benign Het
Lilrb4a A T 10: 51,367,709 (GRCm39) N84Y probably benign Het
Mdga2 A G 12: 66,553,044 (GRCm39) probably benign Het
Naca T C 10: 127,877,547 (GRCm39) probably benign Het
Naif1 C T 2: 32,344,887 (GRCm39) P197L probably benign Het
Nrk T C X: 137,876,197 (GRCm39) L466P probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Pkn1 G A 8: 84,407,867 (GRCm39) A421V probably benign Het
Rusc2 A G 4: 43,415,456 (GRCm39) Q254R probably benign Het
Ryr1 G T 7: 28,774,223 (GRCm39) R2404S probably damaging Het
Selenon T C 4: 134,270,380 (GRCm39) D324G probably null Het
Serpinh1 T C 7: 98,998,228 (GRCm39) Y134C probably damaging Het
Serpini2 T C 3: 75,166,921 (GRCm39) Y112C probably damaging Het
Setx T G 2: 29,038,637 (GRCm39) C1707W probably damaging Het
Sit1 C T 4: 43,483,314 (GRCm39) R50H possibly damaging Het
Slc27a5 T A 7: 12,723,487 (GRCm39) probably benign Het
Slc5a4b C T 10: 75,910,907 (GRCm39) V310M probably damaging Het
Smc6 T C 12: 11,326,294 (GRCm39) V97A probably damaging Het
Ube2frt A G 12: 36,140,574 (GRCm39) probably benign Het
Usp42 T C 5: 143,707,384 (GRCm39) probably benign Het
Utrn A T 10: 12,615,105 (GRCm39) probably null Het
Vmn2r82 A G 10: 79,232,082 (GRCm39) I694V probably benign Het
Vmn2r-ps69 T C 7: 84,956,832 (GRCm39) noncoding transcript Het
Zfpm2 A G 15: 40,965,719 (GRCm39) T603A probably benign Het
Other mutations in Dnajc17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Dnajc17 APN 2 119,011,441 (GRCm39) missense probably benign 0.00
IGL02958:Dnajc17 APN 2 119,016,243 (GRCm39) missense probably benign 0.03
IGL03265:Dnajc17 APN 2 119,016,199 (GRCm39) missense probably benign 0.00
R0142:Dnajc17 UTSW 2 119,010,415 (GRCm39) missense probably benign 0.21
R1772:Dnajc17 UTSW 2 119,014,164 (GRCm39) nonsense probably null
R4274:Dnajc17 UTSW 2 119,016,866 (GRCm39) missense probably benign 0.00
R4784:Dnajc17 UTSW 2 119,009,909 (GRCm39) missense probably benign 0.00
R5961:Dnajc17 UTSW 2 119,016,527 (GRCm39) missense possibly damaging 0.87
R6826:Dnajc17 UTSW 2 119,011,408 (GRCm39) missense probably damaging 1.00
R8858:Dnajc17 UTSW 2 119,011,445 (GRCm39) missense probably benign
R9173:Dnajc17 UTSW 2 119,009,894 (GRCm39) missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- AACAGGGAGTCAGCCTTCTG -3'
(R):5'- CCACTGGGTCAGAACTTTAGTG -3'

Sequencing Primer
(F):5'- CTTCTGCCTGAGCTGGTGAAC -3'
(R):5'- CTGGGTCAGAACTTTAGTGTACCAC -3'
Posted On 2015-01-23