Incidental Mutation 'R2276:Dnajb12'
ID 242818
Institutional Source Beutler Lab
Gene Symbol Dnajb12
Ensembl Gene ENSMUSG00000020109
Gene Name DnaJ heat shock protein family (Hsp40) member B12
Synonyms mDj10
MMRRC Submission 040275-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R2276 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 59715405-59735118 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 59728799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 229 (T229I)
Ref Sequence ENSEMBL: ENSMUSP00000116577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020309] [ENSMUST00000131810] [ENSMUST00000142819] [ENSMUST00000146590] [ENSMUST00000147914]
AlphaFold Q9QYI4
Predicted Effect probably benign
Transcript: ENSMUST00000020309
AA Change: T229I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000020309
Gene: ENSMUSG00000020109
AA Change: T229I

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 benign
Transcript: ENSMUST00000142819
AA Change: T229I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000118088
Gene: ENSMUSG00000020109
AA Change: T229I

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: ENSMUST00000146590
AA Change: T229I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000122056
Gene: ENSMUSG00000020109
AA Change: T229I

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: ENSMUST00000147914
AA Change: T229I

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116577
Gene: ENSMUSG00000020109
AA Change: T229I

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 0.0860 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (65/65)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T A 14: 78,747,477 (GRCm39) I1637L possibly damaging Het
Ankrd27 T C 7: 35,315,265 (GRCm39) probably benign Het
Anxa3 T C 5: 96,978,349 (GRCm39) probably null Het
Arfgef2 G C 2: 166,707,679 (GRCm39) G1025A probably benign Het
Arhgap21 T C 2: 20,868,037 (GRCm39) I829V possibly damaging Het
Arhgap42 T C 9: 9,035,512 (GRCm39) M277V probably benign Het
Cep112 A T 11: 108,746,671 (GRCm39) R176S probably damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cpped1 A C 16: 11,712,745 (GRCm39) probably null Het
Cr2 T C 1: 194,839,676 (GRCm39) R960G possibly damaging Het
Dbf4 T C 5: 8,471,333 (GRCm39) N36S possibly damaging Het
Dnah6 G A 6: 73,090,564 (GRCm39) S2210L probably benign Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Epb41l2 T C 10: 25,364,842 (GRCm39) probably benign Het
Fam178b A G 1: 36,671,539 (GRCm39) L194P probably damaging Het
Fam50b C T 13: 34,930,823 (GRCm39) Q100* probably null Het
Gimap9 A G 6: 48,654,812 (GRCm39) H133R probably benign Het
Gpbp1 A T 13: 111,603,512 (GRCm39) probably null Het
Gpr89 A G 3: 96,804,743 (GRCm39) Y38H probably damaging Het
Gsdmc3 T A 15: 63,732,105 (GRCm39) Y307F probably benign Het
H4c16 T A 6: 136,781,299 (GRCm39) I27F probably damaging Het
Hip1 C T 5: 135,485,900 (GRCm39) R101K probably damaging Het
Hsf4 G A 8: 105,996,628 (GRCm39) D18N probably null Het
Igfn1 T C 1: 135,892,479 (GRCm39) K2214E probably damaging Het
Itgal A T 7: 126,927,919 (GRCm39) E1038V probably null Het
Kank2 C A 9: 21,681,080 (GRCm39) M816I probably damaging Het
Kctd15 T C 7: 34,344,366 (GRCm39) D95G possibly damaging Het
Kif1a A T 1: 92,996,199 (GRCm39) probably benign Het
Lgi4 T G 7: 30,760,037 (GRCm39) L78V probably damaging Het
Lrrc7 A G 3: 157,885,429 (GRCm39) F432L probably damaging Het
Madd A T 2: 90,974,028 (GRCm39) C1419S possibly damaging Het
Nisch T C 14: 30,898,803 (GRCm39) probably benign Het
Or2h1b A T 17: 37,462,145 (GRCm39) C239* probably null Het
Osbpl2 G A 2: 179,790,319 (GRCm39) G198S possibly damaging Het
Pclo T A 5: 14,764,287 (GRCm39) D4253E unknown Het
Phactr1 A T 13: 43,231,265 (GRCm39) S244C possibly damaging Het
Pja2 T C 17: 64,599,865 (GRCm39) S478G probably damaging Het
Prex1 A T 2: 166,419,875 (GRCm39) I79N probably benign Het
Ptpn4 T C 1: 119,612,321 (GRCm39) D24G probably damaging Het
Rars2 T C 4: 34,656,835 (GRCm39) S495P probably damaging Het
Rhebl1 A T 15: 98,776,167 (GRCm39) D162E probably benign Het
Rhou T C 8: 124,382,258 (GRCm39) V100A probably damaging Het
Rpn2 A G 2: 157,152,208 (GRCm39) T394A possibly damaging Het
Ryr3 A T 2: 112,479,664 (GRCm39) M4386K possibly damaging Het
Scmh1 G T 4: 120,340,869 (GRCm39) C185F probably damaging Het
Sema3d A T 5: 12,592,549 (GRCm39) Q326L possibly damaging Het
Sis T A 3: 72,821,934 (GRCm39) K1376* probably null Het
Slc25a29 T C 12: 108,792,852 (GRCm39) E242G probably benign Het
Slc26a5 A G 5: 22,028,545 (GRCm39) V304A probably benign Het
Slc39a7 C T 17: 34,250,241 (GRCm39) probably benign Het
Slco1a4 A G 6: 141,761,308 (GRCm39) V435A possibly damaging Het
Syne2 A G 12: 75,974,240 (GRCm39) E1146G possibly damaging Het
Tgm5 T A 2: 120,879,304 (GRCm39) probably benign Het
Tgm7 A G 2: 120,929,045 (GRCm39) S284P probably damaging Het
Tmem132d G A 5: 127,872,987 (GRCm39) R541W probably damaging Het
Tmem170 C A 8: 112,596,349 (GRCm39) V59L probably benign Het
Tpbgl G T 7: 99,275,233 (GRCm39) A208E possibly damaging Het
Ttc23l A G 15: 10,523,678 (GRCm39) I347T possibly damaging Het
Ulk1 T C 5: 110,936,028 (GRCm39) E827G probably benign Het
Vps13a A G 19: 16,687,790 (GRCm39) V886A possibly damaging Het
Wrn A T 8: 33,814,584 (GRCm39) C44S probably benign Het
Zscan22 T A 7: 12,640,750 (GRCm39) C331* probably null 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
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
R5455:Dnajb12 UTSW 10 59,728,574 (GRCm39) frame shift probably null
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'- TTGGTGATGACAAGAGCCAG -3'
(R):5'- TGGTGTCCCTAGGCAGAATG -3'

Sequencing Primer
(F):5'- ACTTCCACCGAGGCTTTGAG -3'
(R):5'- TCCCTAGGCAGAATGGCACTG -3'
Posted On 2014-10-16