Incidental Mutation 'R4151:Dnajb6'
ID 500509
Institutional Source Beutler Lab
Gene Symbol Dnajb6
Ensembl Gene ENSMUSG00000029131
Gene Name DnaJ heat shock protein family (Hsp40) member B6
Synonyms Mrj, mDj4
MMRRC Submission 040861-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4151 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 29940896-29991476 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 29961234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 118 (L118V)
Ref Sequence ENSEMBL: ENSMUSP00000012734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008733] [ENSMUST00000012734] [ENSMUST00000114839] [ENSMUST00000196528] [ENSMUST00000198694]
AlphaFold O54946
Predicted Effect probably benign
Transcript: ENSMUST00000008733
SMART Domains Protein: ENSMUSP00000008733
Gene: ENSMUSG00000029131

DomainStartEndE-ValueType
DnaJ 2 61 4.64e-32 SMART
low complexity region 109 124 N/A INTRINSIC
low complexity region 125 158 N/A INTRINSIC
low complexity region 166 185 N/A INTRINSIC
low complexity region 249 261 N/A INTRINSIC
low complexity region 272 293 N/A INTRINSIC
low complexity region 339 363 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000012734
AA Change: L118V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000012734
Gene: ENSMUSG00000029131
AA Change: L118V

DomainStartEndE-ValueType
DnaJ 2 61 4.64e-32 SMART
low complexity region 111 124 N/A INTRINSIC
low complexity region 192 205 N/A INTRINSIC
coiled coil region 223 244 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114839
SMART Domains Protein: ENSMUSP00000110488
Gene: ENSMUSG00000029131

DomainStartEndE-ValueType
DnaJ 2 61 4.64e-32 SMART
low complexity region 109 124 N/A INTRINSIC
low complexity region 125 158 N/A INTRINSIC
low complexity region 166 185 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149553
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151976
Predicted Effect probably benign
Transcript: ENSMUST00000196528
SMART Domains Protein: ENSMUSP00000142878
Gene: ENSMUSG00000029131

DomainStartEndE-ValueType
DnaJ 2 61 3e-34 SMART
low complexity region 109 124 N/A INTRINSIC
low complexity region 125 158 N/A INTRINSIC
low complexity region 166 185 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198694
SMART Domains Protein: ENSMUSP00000142783
Gene: ENSMUSG00000029131

DomainStartEndE-ValueType
DnaJ 2 61 1.4e-23 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants died at mid-gestation due to a failure of chorioallantoic fusion at embryonic day 8.5, and thus preventing the formation of a mature placenta. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano10 C T 9: 122,090,601 (GRCm39) W237* probably null Het
Armc9 C T 1: 86,092,497 (GRCm39) T87M probably damaging Het
Astn2 C T 4: 65,647,557 (GRCm39) probably null Het
Atxn7l1 G A 12: 33,414,481 (GRCm39) V506M probably damaging Het
Cenpe A G 3: 134,920,914 (GRCm39) N36D probably benign Het
Cfap45 T A 1: 172,359,788 (GRCm39) I96N probably damaging Het
Cyp8b1 A T 9: 121,745,134 (GRCm39) V66D probably damaging Het
Dpy19l4 A G 4: 11,309,485 (GRCm39) S44P possibly damaging Het
Dync2li1 A G 17: 84,935,763 (GRCm39) H20R probably benign Het
Ecpas A T 4: 58,836,254 (GRCm39) S695R possibly damaging Het
Eif3g T C 9: 20,806,429 (GRCm39) D220G probably benign Het
Fbxo38 GTGCTGCTGCTGCTGCTGCTGC GTGCTGCTGCTGCTGCTGC 18: 62,648,399 (GRCm39) probably benign Het
Gata2 T A 6: 88,176,620 (GRCm39) H26Q probably damaging Het
Gle1 T C 2: 29,834,056 (GRCm39) I434T probably damaging Het
Gm5145 A G 17: 20,791,360 (GRCm39) E246G probably damaging Het
Ints10 T A 8: 69,247,250 (GRCm39) probably null Het
Kdr G T 5: 76,117,761 (GRCm39) A664E possibly damaging Het
Klhl1 A C 14: 96,755,752 (GRCm39) M1R probably null Het
Lama4 T A 10: 38,881,424 (GRCm39) F71Y probably benign Het
Madd C A 2: 90,973,428 (GRCm39) R1410L probably benign Het
Magi2 T C 5: 19,432,290 (GRCm39) S2P probably damaging Het
Map4k3 T C 17: 80,951,963 (GRCm39) K228R probably damaging Het
Mrpl43 A G 19: 44,994,175 (GRCm39) L148P possibly damaging Het
Msi2 G C 11: 88,608,870 (GRCm39) S16C probably damaging Het
Myo1e G T 9: 70,204,633 (GRCm39) G78* probably null Het
Notch2 T C 3: 98,054,387 (GRCm39) L2350S possibly damaging Het
Nptn G T 9: 58,550,825 (GRCm39) S168I probably benign Het
Nsmce2 A G 15: 59,473,214 (GRCm39) T244A probably benign Het
Or5aq6 C T 2: 86,923,514 (GRCm39) V76I probably benign Het
Ostn T A 16: 27,140,152 (GRCm39) S22T probably benign Het
Plekhb2 T G 1: 34,903,564 (GRCm39) F102V probably benign Het
Prkdc A G 16: 15,634,637 (GRCm39) D3594G probably benign Het
Psmd6 G C 14: 14,120,157 (GRCm38) L61V probably benign Het
Rbm33 C T 5: 28,592,938 (GRCm39) P573S probably damaging Het
Rfk A C 19: 17,372,672 (GRCm39) I65L probably benign Het
Rnf141 A T 7: 110,436,406 (GRCm39) D7E probably benign Het
Shank2 A T 7: 143,608,565 (GRCm39) K153M probably damaging Het
Slc30a2 A T 4: 134,071,359 (GRCm39) I31F probably benign Het
Slco3a1 G T 7: 74,009,586 (GRCm39) A243E probably damaging Het
Stab2 G A 10: 86,838,847 (GRCm39) T73I probably benign Het
Sufu G A 19: 46,438,411 (GRCm39) probably null Het
Sync C T 4: 129,187,519 (GRCm39) Q184* probably null Het
Tnfrsf25 G T 4: 152,204,258 (GRCm39) A376S probably damaging Het
Tnpo1 A T 13: 98,989,407 (GRCm39) I765N probably damaging Het
Ube2d2b A T 5: 107,978,747 (GRCm39) K133* probably null Het
Ulk3 C T 9: 57,499,650 (GRCm39) S217L possibly damaging Het
Upf2 C A 2: 5,966,516 (GRCm39) Q379K unknown Het
Vegfc T A 8: 54,530,824 (GRCm39) L4Q unknown Het
Vmn2r104 A T 17: 20,250,147 (GRCm39) I708N probably damaging Het
Other mutations in Dnajb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02282:Dnajb6 APN 5 29,957,416 (GRCm39) missense probably damaging 1.00
IGL02706:Dnajb6 APN 5 29,957,421 (GRCm39) missense probably damaging 1.00
R0211:Dnajb6 UTSW 5 29,990,077 (GRCm39) intron probably benign
R0829:Dnajb6 UTSW 5 29,990,020 (GRCm39) intron probably benign
R0925:Dnajb6 UTSW 5 29,957,398 (GRCm39) missense probably damaging 0.98
R1776:Dnajb6 UTSW 5 29,990,091 (GRCm39) intron probably benign
R2357:Dnajb6 UTSW 5 29,958,638 (GRCm39) missense probably damaging 0.98
R3979:Dnajb6 UTSW 5 29,956,006 (GRCm39) missense possibly damaging 0.88
R6243:Dnajb6 UTSW 5 29,986,131 (GRCm39) missense probably benign 0.08
R6671:Dnajb6 UTSW 5 29,953,418 (GRCm39) missense probably damaging 0.98
R7206:Dnajb6 UTSW 5 29,986,335 (GRCm39) missense possibly damaging 0.94
R7440:Dnajb6 UTSW 5 29,962,857 (GRCm39) missense possibly damaging 0.85
R7536:Dnajb6 UTSW 5 29,962,804 (GRCm39) missense possibly damaging 0.72
R8334:Dnajb6 UTSW 5 29,986,238 (GRCm39) missense unknown
R9485:Dnajb6 UTSW 5 29,986,517 (GRCm39) nonsense probably null
R9665:Dnajb6 UTSW 5 29,971,374 (GRCm39) missense probably damaging 1.00
Z1176:Dnajb6 UTSW 5 29,957,443 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- TCAAGTGCTTGTTCTCCTTGAG -3'
(R):5'- TTACAAGGGCTCTGGATACTGC -3'

Sequencing Primer
(F):5'- GAATCTGTCACTCTAGTCTAGACAG -3'
(R):5'- GGCTCTGGATACTGCTGACTATACAC -3'
Posted On 2017-12-01