Incidental Mutation 'IGL03265:Dnajc17'
ID415044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc17
Ensembl Gene ENSMUSG00000034278
Gene NameDnaJ heat shock protein family (Hsp40) member C17
SynonymsD9Bwg1371e, 1700025B16Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03265
Quality Score
Status
Chromosome2
Chromosomal Location119172500-119208795 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 119185718 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 91 (E91D)
Ref Sequence ENSEMBL: ENSMUSP00000041841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038439]
Predicted Effect probably benign
Transcript: ENSMUST00000038439
AA Change: E91D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000041841
Gene: ENSMUSG00000034278
AA Change: E91D

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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 37,047,991 D4777E probably benign Het
Abca8a C A 11: 110,053,103 M1113I probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Akr1a1 A G 4: 116,637,817 M286T probably benign Het
Anapc1 T C 2: 128,627,197 S1575G probably damaging Het
Apba2 A G 7: 64,695,323 D87G probably damaging Het
Arhgap21 A G 2: 20,849,628 F1641S probably benign Het
Atad2b T A 12: 5,024,628 H1062Q probably benign Het
Bivm A G 1: 44,141,845 R396G probably damaging Het
Bmi1 T A 2: 18,681,861 M17K possibly damaging Het
Bptf T C 11: 107,054,628 N2480S probably benign Het
Cacna2d3 T C 14: 28,952,286 E944G probably damaging Het
Ces2a C T 8: 104,737,443 H236Y possibly damaging Het
Dnah7a T C 1: 53,528,848 D1863G probably benign Het
Dus2 C A 8: 106,033,791 probably benign Het
Epha6 T C 16: 60,060,231 probably benign Het
Erap1 A T 13: 74,664,127 T354S probably damaging Het
Fbxo11 T C 17: 87,992,831 H851R probably damaging Het
Gm20532 G A 2: 26,632,684 C90Y unknown Het
Gpr21 T C 2: 37,518,074 Y211H probably damaging Het
Hectd4 A G 5: 121,259,939 probably benign Het
Hephl1 G A 9: 15,060,959 T895I probably benign Het
Hey1 T C 3: 8,664,914 Y161C probably benign Het
Kdr A G 5: 75,960,773 Y526H probably damaging Het
Lpp A G 16: 24,761,987 Y151C probably damaging Het
Macc1 A G 12: 119,446,976 N493S probably benign Het
Olfr1022 T A 2: 85,869,150 M186K possibly damaging Het
Olfr1101 T A 2: 86,989,080 Y32F probably damaging Het
Olfr315 T C 11: 58,778,871 V248A probably damaging Het
Olfr605 C A 7: 103,442,448 R225L probably benign Het
Olfr786 A T 10: 129,436,925 T38S possibly damaging Het
Pcdhb21 A G 18: 37,515,153 D445G probably damaging Het
Prkra T C 2: 76,640,270 N123D probably benign Het
Slc25a33 A C 4: 149,762,436 L56R probably damaging Het
Usp36 A G 11: 118,264,809 V714A possibly damaging Het
Vmn1r174 T A 7: 23,754,473 L188* probably null Het
Vmn2r12 A G 5: 109,092,070 V209A probably benign Het
Zfp809 A G 9: 22,243,043 Y352C probably benign Het
Other mutations in Dnajc17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Dnajc17 APN 2 119180960 missense probably benign 0.00
IGL02958:Dnajc17 APN 2 119185762 missense probably benign 0.03
R0142:Dnajc17 UTSW 2 119179934 missense probably benign 0.21
R1772:Dnajc17 UTSW 2 119183683 nonsense probably null
R2886:Dnajc17 UTSW 2 119179452 missense probably benign 0.13
R4274:Dnajc17 UTSW 2 119186385 missense probably benign 0.00
R4784:Dnajc17 UTSW 2 119179428 missense probably benign 0.00
R5961:Dnajc17 UTSW 2 119186046 missense possibly damaging 0.87
R6826:Dnajc17 UTSW 2 119180927 missense probably damaging 1.00
Posted On2016-08-02