Incidental Mutation 'R7010:Dnajc12'
ID 544972
Institutional Source Beutler Lab
Gene Symbol Dnajc12
Ensembl Gene ENSMUSG00000036764
Gene Name DnaJ heat shock protein family (Hsp40) member C12
Synonyms Jdp1, J domain protein 1, mJDP1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R7010 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 63218222-63244619 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63233059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 67 (C67S)
Ref Sequence ENSEMBL: ENSMUSP00000041298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043317] [ENSMUST00000129625]
AlphaFold Q9R022
Predicted Effect probably benign
Transcript: ENSMUST00000043317
AA Change: C67S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041298
Gene: ENSMUSG00000036764
AA Change: C67S

DomainStartEndE-ValueType
DnaJ 13 71 1.3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129625
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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 a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AL592187.3 A T 15: 77,486,797 (GRCm39) Y58F probably benign Het
Ano10 T C 9: 122,082,190 (GRCm39) T494A probably damaging Het
Asah2 A T 19: 32,031,954 (GRCm39) F72I probably benign Het
Atat1 T C 17: 36,219,522 (GRCm39) D114G probably damaging Het
Atp6v1e2 C T 17: 87,251,773 (GRCm39) M208I probably benign Het
Bicd1 A G 6: 149,396,113 (GRCm39) Y161C probably damaging Het
Camk2g T C 14: 20,791,512 (GRCm39) S410G probably benign Het
Car2 C T 3: 14,965,113 (GRCm39) P249L possibly damaging Het
Cdh23 T G 10: 60,366,770 (GRCm39) I237L probably benign Het
Dlat T A 9: 50,569,274 (GRCm39) K176N probably damaging Het
Fat1 G T 8: 45,406,386 (GRCm39) E1046* probably null Het
Gmip G A 8: 70,264,050 (GRCm39) A137T probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Grk6 A G 13: 55,598,113 (GRCm39) I62V possibly damaging Het
Hook1 G T 4: 95,903,048 (GRCm39) L512F probably damaging Het
Ighe T C 12: 113,236,761 (GRCm39) T36A Het
Il17rc A G 6: 113,456,249 (GRCm39) N338S possibly damaging Het
Itgb6 T C 2: 60,480,322 (GRCm39) Y338C probably damaging Het
Kcnd2 A G 6: 21,216,707 (GRCm39) Y137C probably damaging Het
L3mbtl3 T A 10: 26,158,759 (GRCm39) probably null Het
Lcn3 T C 2: 25,656,068 (GRCm39) F41S probably damaging Het
Map3k8 T C 18: 4,334,060 (GRCm39) H344R probably damaging Het
Marf1 A T 16: 13,954,865 (GRCm39) I884N probably damaging Het
Nalcn G A 14: 123,530,877 (GRCm39) T1387I probably damaging Het
Nrros T C 16: 31,962,398 (GRCm39) T540A probably damaging Het
Or5p63 A T 7: 107,811,349 (GRCm39) I129N probably damaging Het
Pank2 T C 2: 131,122,293 (GRCm39) Y273H probably benign Het
Pgrmc2 A G 3: 41,037,068 (GRCm39) V121A probably damaging Het
Phldb2 C T 16: 45,571,868 (GRCm39) V1175M probably damaging Het
Prss3b A C 6: 41,009,247 (GRCm39) S196A probably benign Het
Ranbp2 A G 10: 58,290,393 (GRCm39) probably null Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Syt7 A G 19: 10,395,354 (GRCm39) T55A probably benign Het
Tfcp2l1 T C 1: 118,581,457 (GRCm39) S137P probably damaging Het
Tom1 T A 8: 75,778,603 (GRCm39) V140D probably damaging Het
Ttc23l T G 15: 10,515,224 (GRCm39) I385L probably damaging Het
Vmn1r122 A G 7: 20,867,896 (GRCm39) V53A probably damaging Het
Vmn2r1 C T 3: 64,012,146 (GRCm39) T669I probably benign Het
Vmn2r86 A G 10: 130,291,726 (GRCm39) L13P probably benign Het
Zfp958 T C 8: 4,678,377 (GRCm39) I134T probably benign Het
Other mutations in Dnajc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01969:Dnajc12 APN 10 63,231,609 (GRCm39) missense probably damaging 1.00
IGL02276:Dnajc12 APN 10 63,244,037 (GRCm39) missense probably damaging 1.00
IGL02669:Dnajc12 APN 10 63,233,071 (GRCm39) missense probably damaging 0.99
R1473:Dnajc12 UTSW 10 63,233,023 (GRCm39) missense probably benign 0.01
R2321:Dnajc12 UTSW 10 63,242,990 (GRCm39) splice site probably benign
R4391:Dnajc12 UTSW 10 63,242,838 (GRCm39) missense probably benign 0.02
R4703:Dnajc12 UTSW 10 63,222,429 (GRCm39) splice site probably null
R4726:Dnajc12 UTSW 10 63,233,087 (GRCm39) missense probably damaging 1.00
R5004:Dnajc12 UTSW 10 63,222,486 (GRCm39) missense probably benign 0.00
R6291:Dnajc12 UTSW 10 63,233,053 (GRCm39) missense probably benign 0.00
R6908:Dnajc12 UTSW 10 63,233,104 (GRCm39) missense probably benign 0.00
R7696:Dnajc12 UTSW 10 63,242,911 (GRCm39) missense probably benign
R7812:Dnajc12 UTSW 10 63,242,905 (GRCm39) missense probably benign 0.00
R9619:Dnajc12 UTSW 10 63,233,075 (GRCm39) missense probably damaging 1.00
Z1177:Dnajc12 UTSW 10 63,233,039 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGAGGACACTAAAGCCTGACTAG -3'
(R):5'- ATGACTTACCACTAATTTCTCAGCC -3'

Sequencing Primer
(F):5'- CACTAAAGCCTGACTAGGGAGAC -3'
(R):5'- ACCACTAATTTCTCAGCCCCTTTC -3'
Posted On 2019-05-13