Incidental Mutation 'R5961:Dnajc17'
ID 471813
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 043247-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5961 (G1)
Quality Score 198
Status Not validated
Chromosome 2
Chromosomal Location 119002981-119039276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119016527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 64 (T64A)
Ref Sequence ENSEMBL: ENSMUSP00000041841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038439]
AlphaFold Q91WT4
Predicted Effect possibly damaging
Transcript: ENSMUST00000038439
AA Change: T64A

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000041841
Gene: ENSMUSG00000034278
AA Change: T64A

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 noncoding transcript
Transcript: ENSMUST00000122061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125731
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141009
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.7%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 103,976,338 (GRCm39) L203P probably damaging Het
Aen C G 7: 78,556,907 (GRCm39) H252D probably damaging Het
Alkbh6 T A 7: 30,013,617 (GRCm39) probably null Het
Birc6 T C 17: 74,953,596 (GRCm39) V3286A probably damaging Het
Cacna1h A G 17: 25,596,246 (GRCm39) M1925T probably benign Het
Caprin2 A C 6: 148,765,038 (GRCm39) S554R probably damaging Het
Celsr3 T C 9: 108,708,993 (GRCm39) S1280P probably damaging Het
Cfap57 T C 4: 118,428,942 (GRCm39) E1008G probably benign Het
Csmd1 A G 8: 16,120,366 (GRCm39) I1813T probably damaging Het
Dnah10 A G 5: 124,888,546 (GRCm39) E3050G probably benign Het
Dnah2 A G 11: 69,321,974 (GRCm39) F3782S probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dvl3 T G 16: 20,349,729 (GRCm39) S567R possibly damaging Het
Epb41l1 T A 2: 156,363,706 (GRCm39) S738R probably benign Het
Exph5 T C 9: 53,288,555 (GRCm39) W1879R probably damaging Het
Fam83a T A 15: 57,872,992 (GRCm39) F274I possibly damaging Het
Ggt1 A G 10: 75,421,736 (GRCm39) probably null Het
Ido2 C T 8: 25,023,786 (GRCm39) V351M probably damaging Het
Kcnt2 A G 1: 140,435,440 (GRCm39) E469G possibly damaging Het
Kdm2b A G 5: 123,070,724 (GRCm39) S403P probably benign Het
Klhl2 C T 8: 65,202,818 (GRCm39) R460H probably damaging Het
Mfsd6l A G 11: 68,447,368 (GRCm39) Y73C possibly damaging Het
Mlec A T 5: 115,288,159 (GRCm39) C205* probably null Het
Mlx T C 11: 100,980,053 (GRCm39) Y129H probably damaging Het
Mmadhc T C 2: 50,181,421 (GRCm39) H83R probably damaging Het
Mmp16 T C 4: 17,853,842 (GRCm39) F41S probably benign Het
Mroh6 G A 15: 75,759,617 (GRCm39) Q187* probably null Het
Myh14 T A 7: 44,272,518 (GRCm39) E1437V probably damaging Het
Nrxn1 A C 17: 90,762,371 (GRCm39) L37R probably damaging Het
Or6c209 T C 10: 129,483,723 (GRCm39) M242T possibly damaging Het
Pkhd1l1 A C 15: 44,322,859 (GRCm39) R48S probably damaging Het
Prokr2 A G 2: 132,215,595 (GRCm39) Y128H possibly damaging Het
Prtg T C 9: 72,764,228 (GRCm39) V567A probably benign Het
Rbis T C 3: 14,676,124 (GRCm39) T26A possibly damaging Het
Srrm2 G A 17: 24,039,083 (GRCm39) probably benign Het
Stat4 A T 1: 52,104,543 (GRCm39) I115L possibly damaging Het
Tnxb G A 17: 34,937,609 (GRCm39) V3833M probably damaging Het
Ugt2b36 C T 5: 87,228,724 (GRCm39) probably null Het
Usp45 A C 4: 21,810,797 (GRCm39) D331A probably damaging Het
Usp47 T C 7: 111,652,523 (GRCm39) S47P probably damaging Het
Vps53 A G 11: 75,939,316 (GRCm39) Y696H probably damaging Het
Zfp384 T C 6: 125,000,997 (GRCm39) I23T probably damaging Het
Zfp804a A G 2: 82,088,346 (GRCm39) Y725C 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
R2886:Dnajc17 UTSW 2 119,009,933 (GRCm39) missense probably benign 0.13
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
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'- CCTTGTCATATGCAGCCTGAC -3'
(R):5'- AAGGGCTTGGCTTCACATGG -3'

Sequencing Primer
(F):5'- AGAGCTCCAGGCATCTTCC -3'
(R):5'- CTTCACATGGTGGGATATACAGTC -3'
Posted On 2017-03-31