Incidental Mutation 'IGL01571:Dnajb5'
ID 93315
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajb5
Ensembl Gene ENSMUSG00000036052
Gene Name DnaJ heat shock protein family (Hsp40) member B5
Synonyms Hsp40-3, 1110058L06Rik, Hsc40
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # IGL01571
Quality Score
Status
Chromosome 4
Chromosomal Location 42949866-42959425 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 42956516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037872] [ENSMUST00000084662] [ENSMUST00000098112] [ENSMUST00000107973]
AlphaFold O89114
Predicted Effect probably benign
Transcript: ENSMUST00000037872
SMART Domains Protein: ENSMUSP00000040451
Gene: ENSMUSG00000036052

DomainStartEndE-ValueType
DnaJ 37 94 8.21e-33 SMART
low complexity region 109 119 N/A INTRINSIC
low complexity region 159 171 N/A INTRINSIC
Pfam:DnaJ_C 205 364 1.3e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084662
SMART Domains Protein: ENSMUSP00000081712
Gene: ENSMUSG00000036052

DomainStartEndE-ValueType
DnaJ 3 60 8.21e-33 SMART
low complexity region 75 85 N/A INTRINSIC
low complexity region 125 137 N/A INTRINSIC
Pfam:CTDII 260 340 1.5e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098112
SMART Domains Protein: ENSMUSP00000095716
Gene: ENSMUSG00000036052

DomainStartEndE-ValueType
DnaJ 3 60 8.21e-33 SMART
low complexity region 75 85 N/A INTRINSIC
low complexity region 125 137 N/A INTRINSIC
Pfam:CTDII 260 340 1.5e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107973
SMART Domains Protein: ENSMUSP00000103607
Gene: ENSMUSG00000036052

DomainStartEndE-ValueType
DnaJ 3 60 8.21e-33 SMART
low complexity region 75 85 N/A INTRINSIC
low complexity region 125 137 N/A INTRINSIC
Pfam:CTDII 260 340 1.5e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153807
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNAJB5 belongs to the evolutionarily conserved DNAJ/HSP40 protein family. For background information on the DNAJ family, see MIM 608375.[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,450,377 (GRCm39) probably benign Het
Cep164 T C 9: 45,705,636 (GRCm39) Q127R possibly damaging Het
Ces1f T A 8: 93,984,996 (GRCm39) M444L probably benign Het
Chd5 T A 4: 152,468,572 (GRCm39) probably benign Het
Cpd T A 11: 76,673,122 (GRCm39) Y1341F probably damaging Het
Cryz T C 3: 154,327,380 (GRCm39) I268T probably damaging Het
Csnk2a1 G A 2: 152,117,326 (GRCm39) R278H probably damaging Het
Cyp4a12b A G 4: 115,295,354 (GRCm39) I487V probably benign Het
Dxo A T 17: 35,058,016 (GRCm39) H214L probably damaging Het
Etfb T C 7: 43,102,383 (GRCm39) probably null Het
G6pc2 G A 2: 69,053,311 (GRCm39) V122I probably damaging Het
Gm5431 A T 11: 48,785,540 (GRCm39) D278E probably benign Het
Gstt2 C T 10: 75,670,005 (GRCm39) probably benign Het
Hnf4g A C 3: 3,716,326 (GRCm39) probably benign Het
Ifi44 T C 3: 151,451,174 (GRCm39) D259G probably damaging Het
Klk1 T C 7: 43,878,020 (GRCm39) V92A probably damaging Het
Lypla1 T C 1: 4,915,211 (GRCm39) I222T probably benign Het
Nbeal2 T C 9: 110,461,826 (GRCm39) N1510D possibly damaging Het
Ndufaf7 A G 17: 79,251,281 (GRCm39) R229G probably damaging Het
Nphp4 G A 4: 152,640,839 (GRCm39) V1069M probably benign Het
Nsd2 A G 5: 34,022,031 (GRCm39) H528R probably benign Het
Or10p21 A T 10: 128,847,696 (GRCm39) I181F probably damaging Het
Or4k48 C A 2: 111,475,725 (GRCm39) V206L probably benign Het
Or7a39 A G 10: 78,715,671 (GRCm39) I222V possibly damaging Het
Pigh A C 12: 79,132,634 (GRCm39) probably benign Het
Prr14l A T 5: 32,986,150 (GRCm39) M1115K probably benign Het
Psg21 T C 7: 18,388,750 (GRCm39) D114G probably damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Pygb T C 2: 150,672,393 (GRCm39) S831P probably benign Het
Ryr2 T A 13: 11,736,647 (GRCm39) D2260V probably damaging Het
Sgo2a T C 1: 58,057,133 (GRCm39) S1106P probably damaging Het
Slc5a5 G A 8: 71,343,976 (GRCm39) probably benign Het
Tekt4 A G 17: 25,695,358 (GRCm39) D397G probably benign Het
Trrap T A 5: 144,770,097 (GRCm39) probably benign Het
Upf2 T C 2: 6,023,750 (GRCm39) probably benign Het
Usp17lb A T 7: 104,489,588 (GRCm39) N445K possibly damaging Het
Vmn2r111 A G 17: 22,790,373 (GRCm39) V211A probably damaging Het
Vmn2r23 A G 6: 123,681,366 (GRCm39) I91M probably damaging Het
Vps13b C T 15: 35,877,635 (GRCm39) probably benign Het
Zc3hc1 G A 6: 30,390,862 (GRCm39) T47I probably benign Het
Other mutations in Dnajb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4737:Dnajb5 UTSW 4 42,957,126 (GRCm39) frame shift probably null
R0522:Dnajb5 UTSW 4 42,957,083 (GRCm39) missense probably damaging 1.00
R0594:Dnajb5 UTSW 4 42,956,577 (GRCm39) missense probably damaging 0.96
R1831:Dnajb5 UTSW 4 42,957,333 (GRCm39) missense probably benign 0.15
R2884:Dnajb5 UTSW 4 42,957,355 (GRCm39) missense probably damaging 1.00
R4594:Dnajb5 UTSW 4 42,950,842 (GRCm39) unclassified probably benign
R4992:Dnajb5 UTSW 4 42,953,386 (GRCm39) critical splice donor site probably null
R5102:Dnajb5 UTSW 4 42,956,639 (GRCm39) missense possibly damaging 0.95
R6143:Dnajb5 UTSW 4 42,956,990 (GRCm39) missense probably damaging 1.00
R9113:Dnajb5 UTSW 4 42,953,233 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09