Incidental Mutation 'IGL01952:Dnajb11'
ID181077
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajb11
Ensembl Gene ENSMUSG00000004460
Gene NameDnaJ heat shock protein family (Hsp40) member B11
SynonymsABBP-2, Dj9, ERdj3, 1810031F23Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.388) question?
Stock #IGL01952
Quality Score
Status
Chromosome16
Chromosomal Location22857845-22879634 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 22865500 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 91 (E91G)
Ref Sequence ENSEMBL: ENSMUSP00000137542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004574] [ENSMUST00000133013] [ENSMUST00000166487] [ENSMUST00000178320]
Predicted Effect probably damaging
Transcript: ENSMUST00000004574
AA Change: E91G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000004574
Gene: ENSMUSG00000004460
AA Change: E91G

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 benign
Transcript: ENSMUST00000133013
Predicted Effect probably damaging
Transcript: ENSMUST00000166487
AA Change: E91G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126828
Gene: ENSMUSG00000004460
AA Change: E91G

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: E91G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137542
Gene: ENSMUSG00000004460
AA Change: E91G

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
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astl T C 2: 127,342,478 probably null Het
Bod1l C T 5: 41,816,954 C2339Y possibly damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Celsr1 T A 15: 85,963,223 I1438F probably benign Het
Dbr1 T A 9: 99,582,412 N297K possibly damaging Het
Dmxl1 A G 18: 49,890,654 H1668R probably benign Het
Elmsan1 G A 12: 84,173,266 P305S probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Grin2d C A 7: 45,862,280 R247L probably benign Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Hacl1 C T 14: 31,641,122 probably benign Het
Hivep2 C A 10: 14,142,331 T1854K possibly damaging Het
Htr1d T C 4: 136,443,561 V367A probably benign Het
Ifi208 T C 1: 173,679,031 S127P possibly damaging Het
Ifngr2 C T 16: 91,559,988 P137S probably damaging Het
Lcn9 T C 2: 25,824,538 L138P probably damaging Het
Mdn1 T C 4: 32,723,657 V2531A possibly damaging Het
Meioc A T 11: 102,672,185 I70F possibly damaging Het
Mlph A C 1: 90,933,471 D276A probably benign Het
Myh1 T A 11: 67,220,392 probably null Het
Nlrp9a G A 7: 26,558,019 S265N probably benign Het
Ofcc1 G A 13: 40,280,861 A22V probably damaging Het
Olfr736 T A 14: 50,393,403 F216I probably benign Het
Pisd C A 5: 32,739,132 probably null Het
Prlr A G 15: 10,328,342 D301G possibly damaging Het
Ptk2 T C 15: 73,229,931 E810G probably damaging Het
Slco1b2 T G 6: 141,671,230 F430V probably benign Het
Supt6 T C 11: 78,225,760 K646R probably benign Het
Tmem260 C T 14: 48,472,476 A52V probably damaging Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Tulp1 G A 17: 28,356,424 T103M probably damaging Het
Vwa5b1 G A 4: 138,581,217 P770S probably benign Het
Wdr63 T C 3: 146,097,163 H91R probably damaging Het
Zfp639 A G 3: 32,515,347 Y18C probably damaging Het
Other mutations in Dnajb11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Dnajb11 APN 16 22862680 missense probably benign 0.02
IGL02581:Dnajb11 APN 16 22871018 missense probably benign 0.02
IGL03117:Dnajb11 APN 16 22869138 missense probably benign 0.04
R0054:Dnajb11 UTSW 16 22862619 missense probably damaging 1.00
R0054:Dnajb11 UTSW 16 22862619 missense probably damaging 1.00
R0765:Dnajb11 UTSW 16 22862568 missense probably damaging 1.00
R1174:Dnajb11 UTSW 16 22870673 missense probably damaging 1.00
R1175:Dnajb11 UTSW 16 22870673 missense probably damaging 1.00
R1415:Dnajb11 UTSW 16 22870621 missense probably benign 0.08
R4021:Dnajb11 UTSW 16 22869446 missense probably damaging 1.00
R4022:Dnajb11 UTSW 16 22869446 missense probably damaging 1.00
R6041:Dnajb11 UTSW 16 22868721 missense probably benign 0.00
R6403:Dnajb11 UTSW 16 22870941 missense probably damaging 1.00
Z1177:Dnajb11 UTSW 16 22865496 missense probably damaging 1.00
Z1177:Dnajb11 UTSW 16 22866961 missense probably benign
Posted On2014-05-07