Incidental Mutation 'IGL03117:Dnajb11'
ID 419461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajb11
Ensembl Gene ENSMUSG00000004460
Gene Name DnaJ heat shock protein family (Hsp40) member B11
Synonyms ERdj3, Dj9, ABBP-2, 1810031F23Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.544) question?
Stock # IGL03117
Quality Score
Status
Chromosome 16
Chromosomal Location 22676595-22698384 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 22687888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 206 (R206L)
Ref Sequence ENSEMBL: ENSMUSP00000137542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004574] [ENSMUST00000133013] [ENSMUST00000166487] [ENSMUST00000178320]
AlphaFold Q99KV1
Predicted Effect probably benign
Transcript: ENSMUST00000004574
AA Change: R206L

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000004574
Gene: ENSMUSG00000004460
AA Change: R206L

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 benign
Transcript: ENSMUST00000166487
AA Change: R206L

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000126828
Gene: ENSMUSG00000004460
AA Change: R206L

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 benign
Transcript: ENSMUST00000178320
AA Change: R206L

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000137542
Gene: ENSMUSG00000004460
AA Change: R206L

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d3 A G 14: 29,189,909 (GRCm39) L109P probably damaging Het
Caprin2 A T 6: 148,763,964 (GRCm39) S568T possibly damaging Het
Catip A G 1: 74,403,744 (GRCm39) T154A probably null Het
Ccdc187 A G 2: 26,177,980 (GRCm39) S270P possibly damaging Het
Ccdc88a A G 11: 29,324,559 (GRCm39) Y39C probably damaging Het
Chrdl2 A T 7: 99,676,787 (GRCm39) H203L possibly damaging Het
Chrnb2 A G 3: 89,670,552 (GRCm39) V62A probably damaging Het
Cklf T A 8: 104,984,055 (GRCm39) S73T possibly damaging Het
Clk1 A G 1: 58,456,166 (GRCm39) probably null Het
Ctdp1 T C 18: 80,492,716 (GRCm39) D593G probably damaging Het
Ctsc A T 7: 87,958,988 (GRCm39) I423F probably damaging Het
D130043K22Rik T A 13: 25,073,825 (GRCm39) V968E probably damaging Het
Dennd4c A G 4: 86,696,140 (GRCm39) S166G possibly damaging Het
Dnah2 G T 11: 69,327,117 (GRCm39) probably benign Het
Dsel A T 1: 111,786,908 (GRCm39) probably benign Het
Ehd2 T C 7: 15,684,396 (GRCm39) S468G possibly damaging Het
Ehmt2 T A 17: 35,125,787 (GRCm39) V640E possibly damaging Het
Elmo2 T A 2: 165,140,573 (GRCm39) E299D probably benign Het
Eps8l1 T C 7: 4,473,886 (GRCm39) L231P probably damaging Het
Esd A G 14: 74,978,686 (GRCm39) T83A probably damaging Het
Flt3 A G 5: 147,293,020 (GRCm39) F529L probably benign Het
Hnrnpu G A 1: 178,158,339 (GRCm39) probably benign Het
Hpx G T 7: 105,249,278 (GRCm39) A7E possibly damaging Het
Ighv6-5 C T 12: 114,380,320 (GRCm39) V85M possibly damaging Het
Itpr3 G A 17: 27,338,240 (GRCm39) V2503I probably damaging Het
Itprid1 A G 6: 55,875,114 (GRCm39) T355A probably benign Het
Matr3 G T 18: 35,705,710 (GRCm39) G212C probably damaging Het
Mrpl35 A T 6: 71,793,263 (GRCm39) Y129* probably null Het
Myh2 T C 11: 67,071,710 (GRCm39) I509T possibly damaging Het
Nat8l G T 5: 34,158,288 (GRCm39) A233S probably damaging Het
Nipbl A C 15: 8,361,936 (GRCm39) L1447W probably damaging Het
Paf1 T A 7: 28,094,481 (GRCm39) C31S possibly damaging Het
Parp4 A C 14: 56,840,313 (GRCm39) T573P probably benign Het
Phf12 A T 11: 77,913,846 (GRCm39) probably benign Het
Pi4k2b A G 5: 52,905,765 (GRCm39) E102G probably benign Het
Pou2f1 A G 1: 165,762,382 (GRCm39) C7R probably benign Het
Prpsap2 T C 11: 61,631,815 (GRCm39) R181G probably benign Het
Psd A G 19: 46,311,561 (GRCm39) probably benign Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Rab21 A T 10: 115,151,097 (GRCm39) probably null Het
Relb T C 7: 19,346,582 (GRCm39) D330G probably damaging Het
Rhoc A T 3: 104,700,236 (GRCm39) T100S probably benign Het
Ryr1 G T 7: 28,802,389 (GRCm39) H744N probably damaging Het
Sardh C T 2: 27,129,458 (GRCm39) G280D probably damaging Het
Scyl2 A C 10: 89,493,729 (GRCm39) N346K possibly damaging Het
Sec16b T C 1: 157,362,970 (GRCm39) F267S probably damaging Het
Slc44a5 T A 3: 153,956,714 (GRCm39) M322K probably benign Het
St8sia4 T A 1: 95,519,508 (GRCm39) N327Y probably benign Het
Tbl1xr1 T A 3: 22,257,323 (GRCm39) Y395* probably null Het
Unc13c A T 9: 73,441,307 (GRCm39) S1897R probably benign Het
Vangl2 A G 1: 171,840,415 (GRCm39) S58P probably damaging Het
Vmn1r17 A G 6: 57,337,501 (GRCm39) I288T probably benign Het
Vmn1r236 A G 17: 21,507,508 (GRCm39) I209V probably benign Het
Zfp809 A G 9: 22,149,950 (GRCm39) Y149C probably 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
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
R1174:Dnajb11 UTSW 16 22,689,423 (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
Posted On 2016-08-02