Incidental Mutation 'R5156:Dnajb12'
ID 396738
Institutional Source Beutler Lab
Gene Symbol Dnajb12
Ensembl Gene ENSMUSG00000020109
Gene Name DnaJ heat shock protein family (Hsp40) member B12
Synonyms mDj10
MMRRC Submission 042738-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R5156 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 59715405-59735118 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59728782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 223 (N223K)
Ref Sequence ENSEMBL: ENSMUSP00000116577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020309] [ENSMUST00000131810] [ENSMUST00000142819] [ENSMUST00000146590] [ENSMUST00000147914]
AlphaFold Q9QYI4
Predicted Effect probably damaging
Transcript: ENSMUST00000020309
AA Change: N223K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020309
Gene: ENSMUSG00000020109
AA Change: N223K

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 damaging
Transcript: ENSMUST00000142819
AA Change: N223K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118088
Gene: ENSMUSG00000020109
AA Change: N223K

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 damaging
Transcript: ENSMUST00000146590
AA Change: N223K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122056
Gene: ENSMUSG00000020109
AA Change: N223K

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 damaging
Transcript: ENSMUST00000147914
AA Change: N223K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116577
Gene: ENSMUSG00000020109
AA Change: N223K

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik G T 17: 79,935,638 (GRCm39) probably benign Het
Apeh C T 9: 107,971,486 (GRCm39) A29T probably damaging Het
Arap2 A T 5: 62,826,524 (GRCm39) Y1013* probably null Het
Arhgef4 A G 1: 34,762,355 (GRCm39) E537G unknown Het
Asf1b T C 8: 84,682,540 (GRCm39) F28S probably damaging Het
Cd46 T A 1: 194,767,693 (GRCm39) I123L possibly damaging Het
Cdca7 A T 2: 72,309,370 (GRCm39) T48S probably damaging Het
Cfap53 T A 18: 74,492,838 (GRCm39) probably benign Het
Clca3a2 T A 3: 144,511,599 (GRCm39) T599S probably benign Het
Csf1 T A 3: 107,656,252 (GRCm39) T148S probably benign Het
Dmbt1 T C 7: 130,699,400 (GRCm39) probably null Het
Dmpk A G 7: 18,818,050 (GRCm39) D44G probably damaging Het
Dync1h1 T A 12: 110,595,264 (GRCm39) M1392K probably benign Het
Edrf1 C T 7: 133,261,908 (GRCm39) A867V probably damaging Het
Efemp2 T A 19: 5,527,706 (GRCm39) C94S possibly damaging Het
Epha8 C T 4: 136,666,037 (GRCm39) S373N probably benign Het
Foxk1 A G 5: 142,434,588 (GRCm39) D284G possibly damaging Het
Fzd10 C A 5: 128,678,366 (GRCm39) R29S possibly damaging Het
Gm13991 T C 2: 116,358,665 (GRCm39) noncoding transcript Het
Gm6818 A T 7: 38,101,471 (GRCm39) noncoding transcript Het
Hydin T A 8: 111,336,333 (GRCm39) C5037S probably benign Het
Ikzf1 T A 11: 11,719,448 (GRCm39) M492K probably damaging Het
Krt20 G T 11: 99,320,879 (GRCm39) S394R possibly damaging Het
Lrrc71 T A 3: 87,653,094 (GRCm39) R107S probably benign Het
Mia2 A G 12: 59,219,323 (GRCm39) T436A possibly damaging Het
Muc19 T A 15: 91,784,614 (GRCm39) noncoding transcript Het
Neu4 T C 1: 93,952,177 (GRCm39) V182A probably damaging Het
Notch2 T G 3: 98,031,626 (GRCm39) F1167V possibly damaging Het
Nrap A G 19: 56,360,277 (GRCm39) M189T possibly damaging Het
Nt5m A T 11: 59,765,487 (GRCm39) I172F probably damaging Het
Or5b118 G T 19: 13,449,037 (GRCm39) K234N probably damaging Het
Or5w15 G A 2: 87,568,119 (GRCm39) P183L possibly damaging Het
Or8k41 A T 2: 86,313,362 (GRCm39) C241* probably null Het
Plekha5 C T 6: 140,372,254 (GRCm39) T68M probably damaging Het
Ppef2 A G 5: 92,392,461 (GRCm39) probably null Het
Ppp1r37 T C 7: 19,295,900 (GRCm39) probably benign Het
Rfx4 T C 10: 84,704,218 (GRCm39) Y238H probably damaging Het
Sanbr A G 11: 23,543,424 (GRCm39) probably null Het
Sec13 G A 6: 113,707,837 (GRCm39) A161V probably benign Het
Serhl G A 15: 82,986,895 (GRCm39) probably benign Het
Slco4a1 T C 2: 180,114,572 (GRCm39) V588A probably benign Het
Slitrk3 T C 3: 72,956,592 (GRCm39) T727A probably benign Het
Sp100 T A 1: 85,601,404 (GRCm39) D241E probably damaging Het
Spata2 G T 2: 167,325,494 (GRCm39) H442N probably damaging Het
Speg T C 1: 75,404,731 (GRCm39) V2588A probably damaging Het
Tnfsf12 A G 11: 69,578,155 (GRCm39) S141P probably damaging Het
Trank1 A G 9: 111,219,762 (GRCm39) I2166M probably damaging Het
Trim10 T A 17: 37,187,948 (GRCm39) V388E probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r10 A G 5: 109,143,466 (GRCm39) V828A probably benign Het
Vmn2r75 T A 7: 85,813,436 (GRCm39) L455F possibly damaging Het
Vwa8 T A 14: 79,221,666 (GRCm39) S541T 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
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'- TGATGACAAGAGCCAGGCTG -3'
(R):5'- CTTGGCCTAAGAATGCTGGG -3'

Sequencing Primer
(F):5'- GACTTCCACCGAGGCTTTGAG -3'
(R):5'- GGGGGTCTTAAGTGGATCAAGACTC -3'
Posted On 2016-06-21