Incidental Mutation 'R6143:Dnajb5'
ID 488665
Institutional Source Beutler Lab
Gene Symbol Dnajb5
Ensembl Gene ENSMUSG00000036052
Gene Name DnaJ heat shock protein family (Hsp40) member B5
Synonyms Hsp40-3, 1110058L06Rik, Hsc40
MMRRC Submission 044290-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R6143 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 42949866-42959425 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 42956990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 226 (T226S)
Ref Sequence ENSEMBL: ENSMUSP00000103607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037872] [ENSMUST00000084662] [ENSMUST00000098112] [ENSMUST00000107973]
AlphaFold O89114
Predicted Effect probably damaging
Transcript: ENSMUST00000037872
AA Change: T260S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040451
Gene: ENSMUSG00000036052
AA Change: T260S

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: T226S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000081712
Gene: ENSMUSG00000036052
AA Change: T226S

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: T226S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095716
Gene: ENSMUSG00000036052
AA Change: T226S

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: T226S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103607
Gene: ENSMUSG00000036052
AA Change: T226S

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
Meta Mutation Damage Score 0.1363 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730061H03Rik A G 14: 55,797,736 (GRCm39) probably benign Het
Abcd2 A T 15: 91,075,150 (GRCm39) V221E possibly damaging Het
Arhgap39 T A 15: 76,614,606 (GRCm39) K853* probably null Het
Art2a T C 7: 101,204,430 (GRCm39) D36G possibly damaging Het
Atp13a1 C T 8: 70,258,010 (GRCm39) P922S probably benign Het
Brwd1 C T 16: 95,804,156 (GRCm39) G2005R probably benign Het
Bzw2 A T 12: 36,170,725 (GRCm39) M133K probably benign Het
Cacna1s T G 1: 136,004,496 (GRCm39) S346A probably damaging Het
Cebpb C A 2: 167,531,220 (GRCm39) D93E probably benign Het
Cep162 C A 9: 87,094,904 (GRCm39) probably null Het
Col9a2 A T 4: 120,911,060 (GRCm39) Y565F probably damaging Het
Csgalnact1 T A 8: 68,826,202 (GRCm39) N372I probably damaging Het
Csmd1 T C 8: 16,138,315 (GRCm39) D1579G probably damaging Het
Cyfip2 A C 11: 46,144,792 (GRCm39) Y687* probably null Het
Cyp2d34 G A 15: 82,504,977 (GRCm39) R28W probably benign Het
Dbndd2 C A 2: 164,330,206 (GRCm39) Q13K probably damaging Het
Dnah5 T A 15: 28,233,377 (GRCm39) S245R probably benign Het
Dnmt1 T C 9: 20,838,430 (GRCm39) E211G probably benign Het
Dnpep G A 1: 75,291,872 (GRCm39) H214Y probably damaging Het
Drc3 G A 11: 60,261,406 (GRCm39) V186M possibly damaging Het
Dvl3 A G 16: 20,345,789 (GRCm39) D413G possibly damaging Het
Dyrk4 C T 6: 126,863,614 (GRCm39) probably null Het
Edc4 T A 8: 106,612,506 (GRCm39) D181E probably damaging Het
Enthd1 T C 15: 80,393,487 (GRCm39) Y247C possibly damaging Het
Gm5622 A T 14: 51,892,372 (GRCm39) R50S possibly damaging Het
Gpbp1 G A 13: 111,603,389 (GRCm39) T20I probably damaging Het
Hnrnpdl A T 5: 100,184,410 (GRCm39) Y276* probably null Het
Hsd3b7 A C 7: 127,400,404 (GRCm39) E51A probably damaging Het
Ighv5-16 G T 12: 113,802,238 (GRCm39) F87L probably damaging Het
Iqsec1 C T 6: 90,786,666 (GRCm39) probably null Het
Irgm2 A T 11: 58,111,435 (GRCm39) E387D possibly damaging Het
Klhl23 C A 2: 69,664,040 (GRCm39) P463Q possibly damaging Het
Mast4 A T 13: 102,990,391 (GRCm39) N43K probably damaging Het
Mme T G 3: 63,207,532 (GRCm39) probably null Het
Mrps31 T G 8: 22,901,539 (GRCm39) S20A probably benign Het
Myo5c A G 9: 75,157,091 (GRCm39) R176G probably damaging Het
Naf1 T C 8: 67,330,347 (GRCm39) V291A possibly damaging Het
Nbeal1 A T 1: 60,290,466 (GRCm39) H1021L possibly damaging Het
Ncaph2 T C 15: 89,248,206 (GRCm39) probably null Het
Neurod4 T G 10: 130,106,869 (GRCm39) Y135S probably damaging Het
Nrp2 A T 1: 62,799,974 (GRCm39) N396I probably damaging Het
Nvl T G 1: 180,962,560 (GRCm39) T137P probably benign Het
Or5p59 A G 7: 107,703,335 (GRCm39) D273G probably damaging Het
Papola T C 12: 105,793,219 (GRCm39) V513A probably benign Het
Pcdhgc4 T A 18: 37,950,653 (GRCm39) S690T possibly damaging Het
Pck1 A T 2: 172,995,805 (GRCm39) D101V probably damaging Het
Pdilt T A 7: 119,094,265 (GRCm39) N329Y probably damaging Het
Pfkl T A 10: 77,825,447 (GRCm39) R648W probably damaging Het
Prtn3 T A 10: 79,716,382 (GRCm39) I63N probably damaging Het
Psg22 C T 7: 18,456,723 (GRCm39) A163V probably benign Het
Pten A G 19: 32,777,485 (GRCm39) T160A possibly damaging Het
Retreg2 A G 1: 75,123,530 (GRCm39) D449G probably damaging Het
Scn9a T C 2: 66,317,868 (GRCm39) Y1531C probably benign Het
Sgk2 T A 2: 162,841,174 (GRCm39) C195S probably damaging Het
Slc19a3 C T 1: 83,004,060 (GRCm39) V14I probably benign Het
Snai2 A T 16: 14,526,107 (GRCm39) R253* probably null Het
Speg G A 1: 75,391,031 (GRCm39) V1512I probably damaging Het
Srsf1 G A 11: 87,940,425 (GRCm39) probably benign Het
Tctn3 G T 19: 40,597,671 (GRCm39) T190N probably benign Het
Tmprss11f T A 5: 86,687,558 (GRCm39) I117L probably benign Het
Ttn G A 2: 76,682,413 (GRCm39) R959* probably null Het
Vmn2r118 G T 17: 55,899,871 (GRCm39) L678I possibly damaging Het
Vps13b T C 15: 35,668,884 (GRCm39) S1594P probably damaging Het
Vps13d G T 4: 144,875,135 (GRCm39) H1791N possibly damaging Het
Other mutations in Dnajb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01571:Dnajb5 APN 4 42,956,516 (GRCm39) splice site probably benign
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
R9113:Dnajb5 UTSW 4 42,953,233 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTTCAATGGGCTGAGTAGG -3'
(R):5'- TGGGAATGTTCACGGTGCAG -3'

Sequencing Primer
(F):5'- CAATGGGCTGAGTAGGGGTCC -3'
(R):5'- TTCACGGTGCAGCCACAC -3'
Posted On 2017-10-10