Incidental Mutation 'R5455:Dnajb12'
ID 432722
Institutional Source Beutler Lab
Gene Symbol Dnajb12
Ensembl Gene ENSMUSG00000020109
Gene Name DnaJ heat shock protein family (Hsp40) member B12
Synonyms mDj10
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R5455 (G1)
Quality Score 217
Status Not validated
Chromosome 10
Chromosomal Location 59715405-59735118 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) GC to G at 59728574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020309] [ENSMUST00000131810] [ENSMUST00000142819] [ENSMUST00000146590] [ENSMUST00000147914]
AlphaFold Q9QYI4
Predicted Effect probably null
Transcript: ENSMUST00000020309
SMART Domains Protein: ENSMUSP00000020309
Gene: ENSMUSG00000020109

DomainStartEndE-ValueType
low complexity region 57 80 N/A INTRINSIC
low complexity region 81 94 N/A INTRINSIC
DnaJ 110 167 3.18e-30 SMART
low complexity region 231 244 N/A INTRINSIC
Pfam:DUF1977 262 370 2.8e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131810
SMART Domains Protein: ENSMUSP00000116244
Gene: ENSMUSG00000020109

DomainStartEndE-ValueType
SCOP:d1a17__ 2 40 4e-3 SMART
low complexity region 57 80 N/A INTRINSIC
low complexity region 81 94 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000142819
SMART Domains Protein: ENSMUSP00000118088
Gene: ENSMUSG00000020109

DomainStartEndE-ValueType
low complexity region 57 80 N/A INTRINSIC
low complexity region 81 94 N/A INTRINSIC
DnaJ 110 167 3.18e-30 SMART
low complexity region 231 244 N/A INTRINSIC
Pfam:DUF1977 262 370 2.8e-44 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000146590
SMART Domains Protein: ENSMUSP00000122056
Gene: ENSMUSG00000020109

DomainStartEndE-ValueType
low complexity region 57 80 N/A INTRINSIC
low complexity region 81 94 N/A INTRINSIC
DnaJ 110 167 3.18e-30 SMART
low complexity region 231 244 N/A INTRINSIC
Pfam:DUF1977 262 370 2.8e-44 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000147914
SMART Domains Protein: ENSMUSP00000116577
Gene: ENSMUSG00000020109

DomainStartEndE-ValueType
low complexity region 57 80 N/A INTRINSIC
low complexity region 81 94 N/A INTRINSIC
DnaJ 110 167 3.18e-30 SMART
low complexity region 231 244 N/A INTRINSIC
Pfam:DUF1977 263 369 9.2e-31 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 T A 17: 43,632,034 (GRCm39) probably null Het
Ascc3 T C 10: 50,725,679 (GRCm39) V2134A probably benign Het
Cct6b T G 11: 82,645,943 (GRCm39) I80L probably benign Het
Cfap20dc A T 14: 8,536,516 (GRCm38) probably null Het
Crebbp C A 16: 3,903,831 (GRCm39) V1765L probably benign Het
Cul9 C T 17: 46,821,772 (GRCm39) probably null Het
Cyp2c40 A G 19: 39,792,236 (GRCm39) I236T possibly damaging Het
Dbndd2 C A 2: 164,332,113 (GRCm39) T112K possibly damaging Het
Dmrtc2 A C 7: 24,571,916 (GRCm39) S4R probably benign Het
Dnah6 C T 6: 73,052,717 (GRCm39) V2988I probably benign Het
Ercc3 T C 18: 32,400,262 (GRCm39) S705P possibly damaging Het
Gm10306 T G 4: 94,445,077 (GRCm39) probably benign Het
H2-Q6 T C 17: 35,643,860 (GRCm39) L3P unknown Het
Kcnn4 T C 7: 24,076,978 (GRCm39) S176P probably damaging Het
Maml2 T A 9: 13,617,039 (GRCm39) Y128* probably null Het
Map2 G A 1: 66,438,550 (GRCm39) E25K probably damaging Het
Morc2b T A 17: 33,357,584 (GRCm39) M63L probably benign Het
Mthfd1 A G 12: 76,348,062 (GRCm39) I569V probably benign Het
Myh8 G A 11: 67,192,244 (GRCm39) R1399H possibly damaging Het
Nop2 T C 6: 125,117,606 (GRCm39) I424T probably benign Het
Olfm5 T C 7: 103,803,669 (GRCm39) R265G probably damaging Het
Opalin T C 19: 41,058,392 (GRCm39) T14A probably benign Het
Or10j7 A G 1: 173,011,818 (GRCm39) F61S probably damaging Het
Or7a36 C T 10: 78,820,371 (GRCm39) S249F possibly damaging Het
Pced1b C A 15: 97,282,274 (GRCm39) S104R probably benign Het
Pdia2 T G 17: 26,416,137 (GRCm39) Q310P probably null Het
Ppil6 A G 10: 41,374,541 (GRCm39) T141A probably benign Het
Prrc2b A G 2: 32,111,355 (GRCm39) probably null Het
Stxbp5 A G 10: 9,684,252 (GRCm39) S573P probably benign Het
Synpo2l C A 14: 20,712,360 (GRCm39) A87S probably damaging Het
Tor1b GGACG GG 2: 30,846,957 (GRCm39) probably benign Het
Vmn1r89 A T 7: 12,954,194 (GRCm39) H121L probably benign Het
Vmn2r99 T A 17: 19,614,408 (GRCm39) C709* probably null Het
Vstm4 A G 14: 32,585,835 (GRCm39) H134R possibly damaging Het
Zan C T 5: 137,452,262 (GRCm39) C1569Y unknown Het
Zdhhc13 A G 7: 48,455,323 (GRCm39) T122A possibly damaging Het
Zpbp2 G T 11: 98,448,429 (GRCm39) V249L probably benign Het
Other mutations in Dnajb12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02616:Dnajb12 APN 10 59,728,685 (GRCm39) splice site probably null
IGL03412:Dnajb12 APN 10 59,725,895 (GRCm39) missense probably benign 0.44
PIT4382001:Dnajb12 UTSW 10 59,728,508 (GRCm39) missense probably damaging 1.00
R0496:Dnajb12 UTSW 10 59,715,623 (GRCm39) nonsense probably null
R1692:Dnajb12 UTSW 10 59,732,199 (GRCm39) missense probably damaging 1.00
R2087:Dnajb12 UTSW 10 59,726,667 (GRCm39) missense possibly damaging 0.82
R2276:Dnajb12 UTSW 10 59,728,799 (GRCm39) missense probably benign 0.31
R4110:Dnajb12 UTSW 10 59,730,136 (GRCm39) missense possibly damaging 0.78
R4113:Dnajb12 UTSW 10 59,730,136 (GRCm39) missense possibly damaging 0.78
R4365:Dnajb12 UTSW 10 59,715,588 (GRCm39) missense probably damaging 1.00
R4382:Dnajb12 UTSW 10 59,733,321 (GRCm39) missense probably benign
R4757:Dnajb12 UTSW 10 59,728,592 (GRCm39) missense probably benign
R5156:Dnajb12 UTSW 10 59,728,782 (GRCm39) missense probably damaging 1.00
R5484:Dnajb12 UTSW 10 59,728,574 (GRCm39) frame shift probably null
R5486:Dnajb12 UTSW 10 59,728,574 (GRCm39) frame shift probably null
R5487:Dnajb12 UTSW 10 59,728,574 (GRCm39) frame shift probably null
R5504:Dnajb12 UTSW 10 59,728,574 (GRCm39) frame shift probably null
R5506:Dnajb12 UTSW 10 59,728,574 (GRCm39) frame shift probably null
R5507:Dnajb12 UTSW 10 59,728,574 (GRCm39) frame shift probably null
R5560:Dnajb12 UTSW 10 59,728,574 (GRCm39) frame shift probably null
R5561:Dnajb12 UTSW 10 59,728,574 (GRCm39) frame shift probably null
R5601:Dnajb12 UTSW 10 59,728,574 (GRCm39) frame shift probably null
R5603:Dnajb12 UTSW 10 59,728,574 (GRCm39) frame shift probably null
R5604:Dnajb12 UTSW 10 59,728,574 (GRCm39) frame shift probably null
R6013:Dnajb12 UTSW 10 59,730,163 (GRCm39) critical splice donor site probably null
R6724:Dnajb12 UTSW 10 59,728,602 (GRCm39) missense possibly damaging 0.92
R6935:Dnajb12 UTSW 10 59,732,325 (GRCm39) critical splice donor site probably null
R8044:Dnajb12 UTSW 10 59,732,172 (GRCm39) missense possibly damaging 0.88
R8073:Dnajb12 UTSW 10 59,726,001 (GRCm39) nonsense probably null
R9235:Dnajb12 UTSW 10 59,728,799 (GRCm39) missense probably benign 0.31
X0022:Dnajb12 UTSW 10 59,728,798 (GRCm39) missense probably null 0.00
Z1088:Dnajb12 UTSW 10 59,725,876 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- TTAGCCTTGCCTAGAGGTGC -3'
(R):5'- CATGAACGTTACCTGAAACATGGAG -3'

Sequencing Primer
(F):5'- TCTGGATTGCCTGCCCAACAG -3'
(R):5'- TTACCTGAAACATGGAGATAGAGTC -3'
Posted On 2016-10-06