Incidental Mutation 'R2884:Dnajb5'
ID260955
Institutional Source Beutler Lab
Gene Symbol Dnajb5
Ensembl Gene ENSMUSG00000036052
Gene NameDnaJ heat shock protein family (Hsp40) member B5
Synonyms1110058L06Rik, Hsc40, Hsp40-3
MMRRC Submission 040472-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.148) question?
Stock #R2884 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location42949814-42959425 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 42957355 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 284 (D284V)
Ref Sequence ENSEMBL: ENSMUSP00000103607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037872] [ENSMUST00000084662] [ENSMUST00000098112] [ENSMUST00000107973]
Predicted Effect probably damaging
Transcript: ENSMUST00000037872
AA Change: D318V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040451
Gene: ENSMUSG00000036052
AA Change: D318V

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 damaging
Transcript: ENSMUST00000084662
AA Change: D284V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081712
Gene: ENSMUSG00000036052
AA Change: D284V

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 damaging
Transcript: ENSMUST00000098112
AA Change: D284V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095716
Gene: ENSMUSG00000036052
AA Change: D284V

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 damaging
Transcript: ENSMUST00000107973
AA Change: D284V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103607
Gene: ENSMUSG00000036052
AA Change: D284V

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik G T 8: 120,145,511 E59D possibly damaging Het
Arhgap27 T C 11: 103,360,843 probably null Het
BC061237 A G 14: 44,501,170 R9G possibly damaging Het
BC067074 G T 13: 113,369,191 A2285S probably benign Het
BC067074 A T 13: 113,320,682 Q1087H probably damaging Het
Brsk1 A G 7: 4,691,123 probably benign Het
Col1a2 G A 6: 4,518,822 probably benign Het
Dnmt3a A G 12: 3,896,132 D329G probably damaging Het
Ecd C T 14: 20,320,773 G626D probably damaging Het
Exoc3l4 A G 12: 111,428,522 D551G possibly damaging Het
Fam227b A T 2: 126,100,926 I317N probably benign Het
Fam3c G A 6: 22,329,582 R49C probably damaging Het
Fcrl5 A G 3: 87,457,391 Y566C probably damaging Het
Fras1 A G 5: 96,700,268 N1779S probably benign Het
Gm19965 T A 1: 116,821,583 N331K probably benign Het
Grm7 G T 6: 110,646,348 V161F probably damaging Het
H2-DMa A G 17: 34,137,147 N41S probably damaging Het
Habp4 A T 13: 64,182,266 R328S probably benign Het
Hexb C T 13: 97,183,700 G272D probably damaging Het
Hist1h2ae A G 13: 23,570,873 I79T probably damaging Het
Lilrb4a A T 10: 51,491,613 N84Y probably benign Het
Mtnr1a A G 8: 45,087,268 T89A probably benign Het
Myh13 T A 11: 67,337,643 N336K probably benign Het
Naca T C 10: 128,041,678 probably benign Het
Naif1 C T 2: 32,454,875 P197L probably benign Het
Nprl3 A G 11: 32,248,163 L179P probably damaging Het
Nup93 A G 8: 94,303,638 Y375C probably damaging Het
Olfr547 A G 7: 102,535,232 I162V probably benign Het
Pcdha12 G A 18: 37,020,704 D159N probably damaging Het
Plekhs1 G A 19: 56,470,826 G39R probably benign Het
Ppp4r3a T C 12: 101,068,677 E53G probably damaging Het
Prss48 A T 3: 85,997,255 M212K probably benign Het
Pth A T 7: 113,386,028 L46Q probably damaging Het
Rin2 A T 2: 145,860,991 T536S probably benign Het
Setx T G 2: 29,148,625 C1707W probably damaging Het
Stau2 A T 1: 16,231,066 F519Y possibly damaging Het
Syne2 T G 12: 75,963,759 V2481G probably benign Het
Tpte C T 8: 22,335,423 Q331* probably null Het
Ttn G T 2: 76,900,252 probably benign Het
Utrn A T 10: 12,739,361 probably null Het
Vmn2r82 A G 10: 79,396,248 I694V probably benign Het
Vmn2r88 G A 14: 51,413,934 C235Y probably damaging Het
Xrn2 T A 2: 147,047,656 V653E probably damaging Het
Znrf3 A T 11: 5,289,693 D58E probably damaging Het
Other mutations in Dnajb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01571:Dnajb5 APN 4 42956516 splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GACATTGTCTTCGTGCTCAAAG -3'
(R):5'- CTTAAGGATCTGCCGTGTCTG -3'

Sequencing Primer
(F):5'- GTCTTCGTGCTCAAAGACAAG -3'
(R):5'- CCGTGTCTGTGGGGTTAATC -3'
Posted On2015-01-23