Incidental Mutation 'R1174:Dnajb11'
ID 99855
Institutional Source Beutler Lab
Gene Symbol Dnajb11
Ensembl Gene ENSMUSG00000004460
Gene Name DnaJ heat shock protein family (Hsp40) member B11
Synonyms ERdj3, Dj9, ABBP-2, 1810031F23Rik
MMRRC Submission 039247-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.544) question?
Stock # R1174 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 22676595-22698384 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22689423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 281 (D281E)
Ref Sequence ENSEMBL: ENSMUSP00000137542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004574] [ENSMUST00000133013] [ENSMUST00000166487] [ENSMUST00000178320]
AlphaFold Q99KV1
Predicted Effect probably damaging
Transcript: ENSMUST00000004574
AA Change: D281E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004574
Gene: ENSMUSG00000004460
AA Change: D281E

DomainStartEndE-ValueType
DnaJ 24 82 4.04e-32 SMART
low complexity region 102 119 N/A INTRINSIC
Pfam:CTDII 257 338 3.4e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132105
Predicted Effect probably damaging
Transcript: ENSMUST00000133013
AA Change: D50E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000166487
AA Change: D281E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126828
Gene: ENSMUSG00000004460
AA Change: D281E

DomainStartEndE-ValueType
DnaJ 24 82 4.04e-32 SMART
low complexity region 102 119 N/A INTRINSIC
Pfam:CTDII 257 338 3.4e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178320
AA Change: D281E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137542
Gene: ENSMUSG00000004460
AA Change: D281E

DomainStartEndE-ValueType
DnaJ 24 82 4.04e-32 SMART
low complexity region 102 119 N/A INTRINSIC
Pfam:DnaJ_C 134 327 3e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231692
Meta Mutation Damage Score 0.7671 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a soluble glycoprotein of the endoplasmic reticulum (ER) lumen that functions as a co-chaperone of binding immunoglobulin protein, a 70 kilodalton heat shock protein chaperone required for the proper folding and assembly of proteins in the ER. The encoded protein contains a highly conserved J domain of about 70 amino acids with a characteristic His-Pro-Asp (HPD) motif and may regulate the activity of binding immunoglobulin protein by stimulating ATPase activity. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 16,935,446 (GRCm39) H214L probably benign Het
Actn3 A G 19: 4,914,784 (GRCm39) L477P probably damaging Het
Adamts12 T C 15: 11,071,843 (GRCm39) V129A probably benign Het
Agxt2 T C 15: 10,373,837 (GRCm39) F81S probably damaging Het
Alpk1 T A 3: 127,474,459 (GRCm39) S515C probably damaging Het
Aoc1l3 C A 6: 48,967,173 (GRCm39) P707H probably damaging Het
Bivm A G 1: 44,165,942 (GRCm39) T131A probably benign Het
Borcs5 T A 6: 134,687,096 (GRCm39) N150K probably damaging Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Cox4i1 C A 8: 121,400,789 (GRCm39) N151K probably benign Het
Cpeb4 T C 11: 31,870,472 (GRCm39) L432P probably damaging Het
Eml6 A G 11: 29,699,824 (GRCm39) S1771P possibly damaging Het
Fes A T 7: 80,027,699 (GRCm39) I815N probably damaging Het
Ghrhr T A 6: 55,365,254 (GRCm39) L416* probably null Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm1818 A G 12: 48,602,982 (GRCm39) noncoding transcript Het
Gpr149 A G 3: 62,511,888 (GRCm39) L37P probably damaging Het
Hdac1-ps A T 17: 78,799,507 (GRCm39) Y166F probably benign Het
Hoxa9 A G 6: 52,202,693 (GRCm39) I131T probably damaging Het
Idh1 G T 1: 65,200,319 (GRCm39) N348K probably benign Het
Klf6 A G 13: 5,911,711 (GRCm39) D25G probably benign Het
Laptm4a T C 12: 8,986,716 (GRCm39) V258A probably damaging Het
Lypd6b C T 2: 49,833,609 (GRCm39) A83V possibly damaging Het
Map3k19 A G 1: 127,751,617 (GRCm39) V578A probably benign Het
Mfsd13a T A 19: 46,363,125 (GRCm39) I511N probably benign Het
Mrm3 T C 11: 76,140,850 (GRCm39) V286A probably damaging Het
Muc6 C T 7: 141,234,368 (GRCm39) G708S probably damaging Het
Neurl4 T C 11: 69,794,547 (GRCm39) probably null Het
Pclo T C 5: 14,727,660 (GRCm39) probably benign Het
Pcnt A T 10: 76,228,878 (GRCm39) probably null Het
Pik3r4 G T 9: 105,540,373 (GRCm39) G754C probably damaging Het
Qtrt1 A G 9: 21,323,782 (GRCm39) T136A probably benign Het
Rgs12 T A 5: 35,123,809 (GRCm39) C531S probably benign Het
Rin1 C A 19: 5,105,231 (GRCm39) Q764K probably benign Het
Robo4 C T 9: 37,324,348 (GRCm39) R959W probably damaging Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Serpinb9d C T 13: 33,384,608 (GRCm39) P195L probably benign Het
Sos1 A C 17: 80,753,037 (GRCm39) Y323* probably null Het
Spmip4 T A 6: 50,566,121 (GRCm39) K118M probably damaging Het
Ssxb8 T G X: 8,556,062 (GRCm39) H88P probably damaging Het
Tas2r140 T C 6: 133,031,834 (GRCm39) E308G probably benign Het
Tdo2 A T 3: 81,881,683 (GRCm39) S40R probably damaging Het
Tle4 C T 19: 14,445,626 (GRCm39) V207I probably benign Het
Txlnb A G 10: 17,718,504 (GRCm39) N445S probably benign Het
Ubap2l A T 3: 89,930,807 (GRCm39) S413T probably benign Het
Vangl2 G T 1: 171,832,353 (GRCm39) T501N probably damaging Het
Vmn2r12 A T 5: 109,240,720 (GRCm39) I131N probably benign Het
Vwa1 C T 4: 155,857,723 (GRCm39) G25D probably damaging Het
Zfp185 A T X: 72,042,929 (GRCm39) E138D possibly damaging Het
Other mutations in Dnajb11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Dnajb11 APN 16 22,681,430 (GRCm39) missense probably benign 0.02
IGL01952:Dnajb11 APN 16 22,684,250 (GRCm39) missense probably damaging 1.00
IGL02581:Dnajb11 APN 16 22,689,768 (GRCm39) missense probably benign 0.02
IGL03117:Dnajb11 APN 16 22,687,888 (GRCm39) missense probably benign 0.04
R0054:Dnajb11 UTSW 16 22,681,369 (GRCm39) missense probably damaging 1.00
R0054:Dnajb11 UTSW 16 22,681,369 (GRCm39) missense probably damaging 1.00
R0765:Dnajb11 UTSW 16 22,681,318 (GRCm39) missense probably damaging 1.00
R1175:Dnajb11 UTSW 16 22,689,423 (GRCm39) missense probably damaging 1.00
R1415:Dnajb11 UTSW 16 22,689,371 (GRCm39) missense probably benign 0.08
R4021:Dnajb11 UTSW 16 22,688,196 (GRCm39) missense probably damaging 1.00
R4022:Dnajb11 UTSW 16 22,688,196 (GRCm39) missense probably damaging 1.00
R6041:Dnajb11 UTSW 16 22,687,471 (GRCm39) missense probably benign 0.00
R6403:Dnajb11 UTSW 16 22,689,691 (GRCm39) missense probably damaging 1.00
R8543:Dnajb11 UTSW 16 22,681,335 (GRCm39) missense probably benign
R9632:Dnajb11 UTSW 16 22,681,344 (GRCm39) missense probably damaging 1.00
Z1177:Dnajb11 UTSW 16 22,685,711 (GRCm39) missense probably benign
Z1177:Dnajb11 UTSW 16 22,684,246 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-01-15