Incidental Mutation 'R2321:Dnajc12'
ID 245647
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
MMRRC Submission 040313-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R2321 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 63218222-63244619 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 63242990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043317] [ENSMUST00000129625]
AlphaFold Q9R022
Predicted Effect probably benign
Transcript: ENSMUST00000043317
SMART Domains Protein: ENSMUSP00000041298
Gene: ENSMUSG00000036764

DomainStartEndE-ValueType
DnaJ 13 71 1.3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136832
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (39/39)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Abcf2 A T 5: 24,772,251 (GRCm39) Y492* probably null Het
Adcy9 A G 16: 4,106,132 (GRCm39) V994A probably damaging Het
Arhgef40 T C 14: 52,231,733 (GRCm39) probably benign Het
Bhlha15 T C 5: 144,128,014 (GRCm39) L42P probably damaging Het
Clca4b C A 3: 144,638,134 (GRCm39) A43S probably benign Het
Cpq A G 15: 33,594,291 (GRCm39) H434R probably benign Het
Crybg2 A G 4: 133,801,822 (GRCm39) E994G probably benign Het
Dcaf1 T C 9: 106,715,672 (GRCm39) L263S probably benign Het
Fbxo32 T C 15: 58,054,689 (GRCm39) I215V possibly damaging Het
Krtap17-1 T C 11: 99,884,746 (GRCm39) D7G unknown Het
Men1 A G 19: 6,389,868 (GRCm39) D466G possibly damaging Het
Myh15 T A 16: 48,933,436 (GRCm39) F624I possibly damaging Het
Ncam1 A C 9: 49,456,132 (GRCm39) probably benign Het
Or2y1d A G 11: 49,322,107 (GRCm39) N268S probably benign Het
Otol1 T A 3: 69,925,858 (GRCm39) L11* probably null Het
Plekhg4 T C 8: 106,104,172 (GRCm39) S447P probably benign Het
Pnma8b G T 7: 16,679,490 (GRCm39) R158L unknown Het
Ppp1r2 A T 16: 31,084,121 (GRCm39) probably null Het
Rad51ap2 G A 12: 11,507,058 (GRCm39) G327R probably damaging Het
Rbm26 T C 14: 105,390,863 (GRCm39) T208A unknown Het
Reln T C 5: 22,120,018 (GRCm39) Y2878C probably damaging Het
Rnps1 T A 17: 24,641,142 (GRCm39) F181I probably damaging Het
Senp6 A C 9: 80,031,022 (GRCm39) I575L possibly damaging Het
Serpinh1 T C 7: 98,995,592 (GRCm39) D330G probably damaging Het
Slamf9 G T 1: 172,304,980 (GRCm39) C198F probably damaging Het
Slc22a13 A T 9: 119,024,694 (GRCm39) V261D possibly damaging Het
Slc26a4 A G 12: 31,590,543 (GRCm39) V370A probably damaging Het
Tasp1 A G 2: 139,899,332 (GRCm39) M7T probably benign Het
Tet2 T C 3: 133,192,100 (GRCm39) N778S possibly damaging Het
Tm9sf4 T A 2: 153,046,506 (GRCm39) Y582N probably damaging Het
Tmem131l T A 3: 83,843,330 (GRCm39) H508L probably damaging Het
Tmem71 T G 15: 66,423,849 (GRCm39) D139A possibly damaging Het
Uroc1 A G 6: 90,324,229 (GRCm39) R418G possibly damaging Het
Wdr64 A C 1: 175,622,653 (GRCm39) K810T possibly damaging Het
Zgrf1 C A 3: 127,356,056 (GRCm39) Y427* probably null 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
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
R7010:Dnajc12 UTSW 10 63,233,059 (GRCm39) missense probably benign
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'- AAGGAAGTGGCCAGACGTTC -3'
(R):5'- GTCATCCTCTCACAAATTGGGAAC -3'

Sequencing Primer
(F):5'- AGACGTTCACCAGCTCAGTTC -3'
(R):5'- ACGCCTTTTATCGCAGAACTTGG -3'
Posted On 2014-10-30