Incidental Mutation 'R4365:Dnajb12'
ID 325712
Institutional Source Beutler Lab
Gene Symbol Dnajb12
Ensembl Gene ENSMUSG00000020109
Gene Name DnaJ heat shock protein family (Hsp40) member B12
Synonyms mDj10
MMRRC Submission 041113-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R4365 (G1)
Quality Score 119
Status Not validated
Chromosome 10
Chromosomal Location 59715405-59735118 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59715588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 30 (F30S)
Ref Sequence ENSEMBL: ENSMUSP00000116244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020309] [ENSMUST00000131810] [ENSMUST00000142819] [ENSMUST00000146590] [ENSMUST00000147914]
AlphaFold Q9QYI4
Predicted Effect probably benign
Transcript: ENSMUST00000020309
AA Change: F30S

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020309
Gene: ENSMUSG00000020109
AA Change: F30S

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: ENSMUST00000131810
AA Change: F30S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116244
Gene: ENSMUSG00000020109
AA Change: F30S

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: F30S

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118088
Gene: ENSMUSG00000020109
AA Change: F30S

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: F30S

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000122056
Gene: ENSMUSG00000020109
AA Change: F30S

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 possibly damaging
Transcript: ENSMUST00000147914
AA Change: F30S

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116577
Gene: ENSMUSG00000020109
AA Change: F30S

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob A T 12: 8,066,083 (GRCm39) I4318F possibly damaging Het
Btrc G A 19: 45,501,919 (GRCm39) D213N probably damaging Het
C4b T A 17: 34,953,717 (GRCm39) I964F possibly damaging Het
Cacna1f G T X: 7,476,213 (GRCm39) A123S probably damaging Het
Ccdc153 G A 9: 44,154,889 (GRCm39) A71T probably damaging Het
Celsr3 C A 9: 108,707,046 (GRCm39) D1176E possibly damaging Het
Cfap46 A C 7: 139,230,868 (GRCm39) V920G probably damaging Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Emilin3 T C 2: 160,750,406 (GRCm39) R401G probably benign Het
F5 A G 1: 164,012,519 (GRCm39) T478A probably damaging Het
Hspa4l C A 3: 40,721,241 (GRCm39) probably null Het
Il1rl2 G T 1: 40,390,951 (GRCm39) R298L probably benign Het
Lipo2 A T 19: 33,699,108 (GRCm39) S307R probably damaging Het
Lrit2 T A 14: 36,794,076 (GRCm39) L380Q probably damaging Het
Ncan A G 8: 70,567,861 (GRCm39) S84P probably damaging Het
Ncoa2 T C 1: 13,250,771 (GRCm39) I304V probably damaging Het
Nfe2l2 T C 2: 75,509,772 (GRCm39) D16G probably damaging Het
Nt5dc1 T C 10: 34,186,377 (GRCm39) D397G probably benign Het
Obsl1 A C 1: 75,464,693 (GRCm39) L1576R possibly damaging Het
Or5p1 A T 7: 107,916,313 (GRCm39) I71F probably benign Het
Or5v1 T C 17: 37,810,270 (GRCm39) S243P probably damaging Het
Or6c212 A G 10: 129,559,281 (GRCm39) I44T probably damaging Het
Pcdh17 A G 14: 84,685,726 (GRCm39) E731G probably damaging Het
Rag1 T A 2: 101,473,288 (GRCm39) K618M probably damaging Het
Ripor2 C T 13: 24,905,694 (GRCm39) P947S probably benign Het
Rnf150 A G 8: 83,590,744 (GRCm39) K36E probably benign Het
S100a9 T C 3: 90,600,081 (GRCm39) H105R unknown Het
Spindoc T C 19: 7,351,219 (GRCm39) D246G possibly damaging Het
St8sia4 A T 1: 95,519,517 (GRCm39) Y324N possibly damaging Het
Tlr11 T A 14: 50,598,926 (GRCm39) I304N probably damaging Het
Trpm3 A G 19: 22,955,694 (GRCm39) T1090A probably benign Het
Ube4a T C 9: 44,871,379 (GRCm39) N7D probably damaging 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
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'- AGGAGACATACGGTAGGGCTTC -3'
(R):5'- TGGACTACGAATCCCAGCAG -3'

Sequencing Primer
(F):5'- CGGAGGGTTATGTCATCCTTCC -3'
(R):5'- GAATCCCAGCAGCACCCG -3'
Posted On 2015-07-06