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 1110058L06Rik, Hsc40, Hsp40-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock # IGL01571
Quality Score
Status
Chromosome 4
Chromosomal Location 42949814-42959425 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 42956516 bp (GRCm38)
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: 21,539,081 probably benign Het
Cep164 T C 9: 45,794,338 Q127R possibly damaging Het
Ces1f T A 8: 93,258,368 M444L probably benign Het
Chd5 T A 4: 152,384,115 probably benign Het
Cpd T A 11: 76,782,296 Y1341F probably damaging Het
Cryz T C 3: 154,621,743 I268T probably damaging Het
Csnk2a1 G A 2: 152,275,406 R278H probably damaging Het
Cyp4a12b A G 4: 115,438,157 I487V probably benign Het
Dxo A T 17: 34,839,040 H214L probably damaging Het
Etfb T C 7: 43,452,959 probably null Het
G6pc2 G A 2: 69,222,967 V122I probably damaging Het
Gm5431 A T 11: 48,894,713 D278E probably benign Het
Gstt2 C T 10: 75,834,171 probably benign Het
Hnf4g A C 3: 3,651,266 probably benign Het
Ifi44 T C 3: 151,745,537 D259G probably damaging Het
Klk1 T C 7: 44,228,596 V92A probably damaging Het
Lypla1 T C 1: 4,844,988 I222T probably benign Het
Nbeal2 T C 9: 110,632,758 N1510D possibly damaging Het
Ndufaf7 A G 17: 78,943,852 R229G probably damaging Het
Nphp4 G A 4: 152,556,382 V1069M probably benign Het
Nsd2 A G 5: 33,864,687 H528R probably benign Het
Olfr1298 C A 2: 111,645,380 V206L probably benign Het
Olfr1355 A G 10: 78,879,837 I222V possibly damaging Het
Olfr763 A T 10: 129,011,827 I181F probably damaging Het
Pigh A C 12: 79,085,860 probably benign Het
Prr14l A T 5: 32,828,806 M1115K probably benign Het
Psg21 T C 7: 18,654,825 D114G probably damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Pygb T C 2: 150,830,473 S831P probably benign Het
Ryr2 T A 13: 11,721,761 D2260V probably damaging Het
Sgo2a T C 1: 58,017,974 S1106P probably damaging Het
Slc5a5 G A 8: 70,891,332 probably benign Het
Tekt4 A G 17: 25,476,384 D397G probably benign Het
Trrap T A 5: 144,833,287 probably benign Het
Upf2 T C 2: 6,018,939 probably benign Het
Usp17lb A T 7: 104,840,381 N445K possibly damaging Het
Vmn2r111 A G 17: 22,571,392 V211A probably damaging Het
Vmn2r23 A G 6: 123,704,407 I91M probably damaging Het
Vps13b C T 15: 35,877,489 probably benign Het
Zc3hc1 G A 6: 30,390,863 T47I probably benign Het
Other mutations in Dnajb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4737:Dnajb5 UTSW 4 42957126 frame shift probably null
R0522:Dnajb5 UTSW 4 42957083 missense probably damaging 1.00
R0594:Dnajb5 UTSW 4 42956577 missense probably damaging 0.96
R1831:Dnajb5 UTSW 4 42957333 missense probably benign 0.15
R2884:Dnajb5 UTSW 4 42957355 missense probably damaging 1.00
R4594:Dnajb5 UTSW 4 42950842 unclassified probably benign
R4992:Dnajb5 UTSW 4 42953386 critical splice donor site probably null
R5102:Dnajb5 UTSW 4 42956639 missense possibly damaging 0.95
R6143:Dnajb5 UTSW 4 42956990 missense probably damaging 1.00
R9113:Dnajb5 UTSW 4 42953233 missense probably damaging 1.00
Posted On 2013-12-09