Incidental Mutation 'IGL02489:Dnajb3'
ID 295554
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajb3
Ensembl Gene ENSMUSG00000081984
Gene Name DnaJ heat shock protein family (Hsp40) member B3
Synonyms Msj1, Hsj3, MSJ-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02489
Quality Score
Status
Chromosome 1
Chromosomal Location 88132454-88133470 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88133032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 123 (N123K)
Ref Sequence ENSEMBL: ENSMUSP00000112703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014263] [ENSMUST00000049289] [ENSMUST00000058237] [ENSMUST00000073772] [ENSMUST00000097659] [ENSMUST00000113134] [ENSMUST00000119972] [ENSMUST00000138182] [ENSMUST00000113139] [ENSMUST00000113135] [ENSMUST00000113142] [ENSMUST00000140092] [ENSMUST00000113137] [ENSMUST00000113138] [ENSMUST00000126203] [ENSMUST00000150634] [ENSMUST00000173325]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000014263
SMART Domains Protein: ENSMUSP00000014263
Gene: ENSMUSG00000054545

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UDPGT 27 522 1.2e-229 PFAM
Pfam:Glyco_tran_28_C 363 448 1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049289
SMART Domains Protein: ENSMUSP00000037258
Gene: ENSMUSG00000090171

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:UDPGT 28 524 2.2e-247 PFAM
Pfam:Glyco_tran_28_C 363 452 4.5e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058237
SMART Domains Protein: ENSMUSP00000058683
Gene: ENSMUSG00000090124

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 522 1.5e-234 PFAM
Pfam:Glyco_tran_28_C 361 450 4.5e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000073772
SMART Domains Protein: ENSMUSP00000073444
Gene: ENSMUSG00000090175

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UDPGT 24 519 2.3e-232 PFAM
Pfam:Glyco_tran_28_C 358 447 4.5e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097659
SMART Domains Protein: ENSMUSP00000095263
Gene: ENSMUSG00000089943

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:UDPGT 25 520 6.7e-246 PFAM
Pfam:Glyco_tran_28_C 359 448 1.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113134
SMART Domains Protein: ENSMUSP00000108759
Gene: ENSMUSG00000054545

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UDPGT 27 522 2.7e-232 PFAM
Pfam:Glyco_tran_28_C 361 450 4.5e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119972
AA Change: N123K

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112703
Gene: ENSMUSG00000081984
AA Change: N123K

DomainStartEndE-ValueType
DnaJ 2 61 6.22e-33 SMART
low complexity region 69 81 N/A INTRINSIC
low complexity region 104 119 N/A INTRINSIC
low complexity region 126 138 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124852
Predicted Effect probably benign
Transcript: ENSMUST00000138182
SMART Domains Protein: ENSMUSP00000119985
Gene: ENSMUSG00000090165

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 62 7e-11 PFAM
Pfam:UDPGT 58 207 1.9e-90 PFAM
Pfam:Glyco_tran_28_C 137 207 4.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113139
SMART Domains Protein: ENSMUSP00000108764
Gene: ENSMUSG00000089675

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 521 3.6e-237 PFAM
Pfam:Glyco_tran_28_C 360 449 1.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113135
SMART Domains Protein: ENSMUSP00000108760
Gene: ENSMUSG00000090124

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UDPGT 27 522 1.2e-229 PFAM
Pfam:Glyco_tran_28_C 363 448 1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113142
SMART Domains Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 521 7.3e-231 PFAM
Pfam:Glyco_tran_28_C 360 449 1.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140092
SMART Domains Protein: ENSMUSP00000115642
Gene: ENSMUSG00000054545

DomainStartEndE-ValueType
Pfam:UDPGT 1 166 9.3e-98 PFAM
Pfam:Glyco_tran_28_C 96 166 4.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113137
SMART Domains Protein: ENSMUSP00000108762
Gene: ENSMUSG00000090145

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UDPGT 27 522 1.3e-231 PFAM
Pfam:Glyco_tran_28_C 361 450 2.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113138
SMART Domains Protein: ENSMUSP00000108763
Gene: ENSMUSG00000090145

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UDPGT 27 522 7.3e-229 PFAM
Pfam:Glyco_tran_28_C 363 448 6.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126203
SMART Domains Protein: ENSMUSP00000116653
Gene: ENSMUSG00000090124

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 62 4.6e-11 PFAM
Pfam:UDPGT 59 127 8.9e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150634
SMART Domains Protein: ENSMUSP00000123452
Gene: ENSMUSG00000090124

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 62 9.5e-11 PFAM
Pfam:UDPGT 58 207 2e-90 PFAM
Pfam:Glyco_tran_28_C 137 207 4.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173325
SMART Domains Protein: ENSMUSP00000134443
Gene: ENSMUSG00000090165

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 61 3.4e-10 PFAM
Pfam:UDPGT 59 210 8.9e-92 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,780,847 (GRCm39) probably benign Het
Aldh6a1 T C 12: 84,480,746 (GRCm39) T430A possibly damaging Het
Ankrd6 T C 4: 32,810,298 (GRCm39) D426G probably damaging Het
Arhgef37 A G 18: 61,639,540 (GRCm39) S280P possibly damaging Het
Bicd1 T C 6: 149,414,535 (GRCm39) L416P probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cenpp T C 13: 49,803,594 (GRCm39) probably null Het
Col5a2 T C 1: 45,431,971 (GRCm39) probably null Het
Ctsa A G 2: 164,680,565 (GRCm39) Y402C probably damaging Het
Dnah7a A G 1: 53,686,481 (GRCm39) V223A possibly damaging Het
Fhad1 G T 4: 141,684,931 (GRCm39) N469K probably damaging Het
Fmo3 G T 1: 162,781,856 (GRCm39) T499K possibly damaging Het
Gm10100 G A 10: 77,562,645 (GRCm39) C109Y probably benign Het
Lrrc27 G T 7: 138,805,977 (GRCm39) R214L probably benign Het
Mc5r T A 18: 68,472,597 (GRCm39) C319S probably damaging Het
Nwd2 A C 5: 63,962,570 (GRCm39) Y718S probably damaging Het
Or8h7 T G 2: 86,721,339 (GRCm39) Y60S probably damaging Het
Ppa1 T A 10: 61,501,223 (GRCm39) D163E probably damaging Het
Ptprk G T 10: 28,259,468 (GRCm39) G303W probably damaging Het
Rnf182 T C 13: 43,821,779 (GRCm39) L110P probably damaging Het
Slc12a2 T C 18: 58,045,074 (GRCm39) F659S probably damaging Het
Slc5a3 T A 16: 91,874,593 (GRCm39) Y217N possibly damaging Het
Ttc41 G T 10: 86,596,778 (GRCm39) E1008* probably null Het
Unc80 T C 1: 66,564,860 (GRCm39) M849T probably benign Het
Vmn2r76 A T 7: 85,878,071 (GRCm39) I442N probably benign Het
Other mutations in Dnajb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02473:Dnajb3 APN 1 88,133,104 (GRCm39) missense probably benign 0.00
IGL02726:Dnajb3 APN 1 88,133,372 (GRCm39) missense probably damaging 1.00
IGL02733:Dnajb3 APN 1 88,132,662 (GRCm39) intron probably benign
IGL02867:Dnajb3 APN 1 88,133,249 (GRCm39) missense probably benign 0.43
R1235:Dnajb3 UTSW 1 88,133,201 (GRCm39) missense probably benign 0.03
R3154:Dnajb3 UTSW 1 88,132,773 (GRCm39) missense probably benign 0.22
R4232:Dnajb3 UTSW 1 88,132,974 (GRCm39) missense possibly damaging 0.75
R4718:Dnajb3 UTSW 1 88,133,061 (GRCm39) missense probably benign 0.13
R5033:Dnajb3 UTSW 1 88,132,745 (GRCm39) missense possibly damaging 0.94
R6393:Dnajb3 UTSW 1 88,133,384 (GRCm39) missense possibly damaging 0.64
R6980:Dnajb3 UTSW 1 88,132,736 (GRCm39) missense probably damaging 1.00
R7789:Dnajb3 UTSW 1 88,133,399 (GRCm39) start codon destroyed probably null 1.00
R8961:Dnajb3 UTSW 1 88,132,998 (GRCm39) nonsense probably null
Posted On 2015-04-16