Incidental Mutation 'R4703:Dnajc12'
ID 397183
Institutional Source Beutler Lab
Gene Symbol Dnajc12
Ensembl Gene ENSMUSG00000036764
Gene Name DnaJ heat shock protein family (Hsp40) member C12
Synonyms J domain protein 1, Jdp1, mJDP1
MMRRC Submission 041951-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R4703 (G1)
Quality Score 80
Status Validated
Chromosome 10
Chromosomal Location 63382443-63410576 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 63386650 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000041298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043317] [ENSMUST00000120239] [ENSMUST00000129625]
AlphaFold Q9R022
Predicted Effect probably null
Transcript: ENSMUST00000043317
SMART Domains Protein: ENSMUSP00000041298
Gene: ENSMUSG00000036764

DnaJ 13 71 1.3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120239
SMART Domains Protein: ENSMUSP00000112595
Gene: ENSMUSG00000020063

low complexity region 6 28 N/A INTRINSIC
low complexity region 46 94 N/A INTRINSIC
low complexity region 108 131 N/A INTRINSIC
low complexity region 136 148 N/A INTRINSIC
Pfam:SIR2 253 439 6.5e-64 PFAM
PDB:4KXQ|B 629 648 4e-6 PDB
low complexity region 649 667 N/A INTRINSIC
low complexity region 672 687 N/A INTRINSIC
low complexity region 702 713 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136832
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 97% (98/101)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik T A 13: 59,689,528 (GRCm38) T248S possibly damaging Het
AA986860 T C 1: 130,743,355 (GRCm38) V438A probably benign Het
Adam25 G T 8: 40,754,126 (GRCm38) C143F probably damaging Het
Aox2 T A 1: 58,358,957 (GRCm38) F1286I possibly damaging Het
Apobec4 A G 1: 152,756,250 (GRCm38) T10A probably benign Het
Arhgap5 C T 12: 52,517,583 (GRCm38) P446S probably damaging Het
Arhgef40 A G 14: 52,002,310 (GRCm38) N1327S probably damaging Het
Armc12 A G 17: 28,532,362 (GRCm38) D110G probably benign Het
Ascc1 A G 10: 60,049,802 (GRCm38) Y225C probably damaging Het
Aspscr1 A T 11: 120,688,945 (GRCm38) K39N possibly damaging Het
B4galnt1 G T 10: 127,167,525 (GRCm38) V172F possibly damaging Het
B4galt1 A G 4: 40,823,569 (GRCm38) V174A probably benign Het
Bcl11a C A 11: 24,163,725 (GRCm38) A356E possibly damaging Het
Bri3bp C T 5: 125,451,766 (GRCm38) L110F probably damaging Het
Cacna1b T C 2: 24,654,463 (GRCm38) D1231G probably damaging Het
Ccdc33 T A 9: 58,033,670 (GRCm38) I430F possibly damaging Het
Cgn A G 3: 94,776,095 (GRCm38) probably benign Het
Crbn T A 6: 106,782,922 (GRCm38) I317F possibly damaging Het
Cyp2d22 A C 15: 82,375,917 (GRCm38) L22R probably damaging Het
Dnah7a C T 1: 53,447,317 (GRCm38) probably null Het
Dntt T A 19: 41,039,803 (GRCm38) D179E probably benign Het
Enam T A 5: 88,503,791 (GRCm38) L1053* probably null Het
Epn1 T A 7: 5,095,148 (GRCm38) D319E probably damaging Het
Evpl C G 11: 116,222,505 (GRCm38) R1453P probably damaging Het
Focad T A 4: 88,342,321 (GRCm38) probably null Het
Foxp2 A T 6: 15,411,248 (GRCm38) M542L probably benign Het
Gak T A 5: 108,569,877 (GRCm38) Q1299L probably damaging Het
Galnt5 G T 2: 57,998,907 (GRCm38) R173I possibly damaging Het
Gli1 G T 10: 127,330,855 (GRCm38) P843Q possibly damaging Het
Gm5422 G T 10: 31,249,612 (GRCm38) noncoding transcript Het
Gna14 T G 19: 16,598,980 (GRCm38) V117G possibly damaging Het
Gpr6 T C 10: 41,071,041 (GRCm38) T182A probably damaging Het
Ifi204 C A 1: 173,760,361 (GRCm38) probably benign Het
Ifih1 A T 2: 62,598,876 (GRCm38) L906H probably benign Het
Ift88 A G 14: 57,480,850 (GRCm38) probably benign Het
Ighd A G 12: 113,416,041 (GRCm38) probably benign Het
Ighv11-1 A C 12: 113,982,002 (GRCm38) I77R possibly damaging Het
Il22 A T 10: 118,205,606 (GRCm38) I75F probably damaging Het
Il23r A T 6: 67,490,702 (GRCm38) I27K probably damaging Het
Inpp5a A C 7: 139,558,923 (GRCm38) N261T probably damaging Het
Ints8 T G 4: 11,223,785 (GRCm38) Q686P possibly damaging Het
Iqcf4 T C 9: 106,568,320 (GRCm38) probably null Het
Irf2bp1 C T 7: 19,005,571 (GRCm38) R379C possibly damaging Het
Iws1 C T 18: 32,080,013 (GRCm38) P165S probably benign Het
Kalrn T C 16: 34,203,957 (GRCm38) D610G probably damaging Het
Kcna10 A T 3: 107,194,610 (GRCm38) I186F probably benign Het
Limk2 C A 11: 3,347,586 (GRCm38) E329* probably null Het
Nadk C A 4: 155,585,227 (GRCm38) P157T probably benign Het
Notch1 T G 2: 26,471,158 (GRCm38) K1107Q probably benign Het
Nsd1 T A 13: 55,214,063 (GRCm38) D281E probably damaging Het
Olfml2a T A 2: 38,951,238 (GRCm38) L262Q probably damaging Het
Olfr1294 T A 2: 111,537,768 (GRCm38) I174L probably benign Het
Olfr231 A G 1: 174,117,398 (GRCm38) I206T possibly damaging Het
Olfr371 A G 8: 85,230,608 (GRCm38) T38A possibly damaging Het
Olfr374 T A 8: 72,110,200 (GRCm38) F211L probably damaging Het
Olfr557 A T 7: 102,698,270 (GRCm38) T11S probably benign Het
Otogl A C 10: 107,821,924 (GRCm38) D1048E probably damaging Het
Oxnad1 T C 14: 32,095,470 (GRCm38) W96R probably damaging Het
Pcdh15 A T 10: 74,450,163 (GRCm38) D743V probably damaging Het
Pclo A G 5: 14,676,480 (GRCm38) probably benign Het
Pcnx C T 12: 81,895,164 (GRCm38) T112I probably benign Het
Pctp T C 11: 89,987,273 (GRCm38) E145G possibly damaging Het
Pip5k1b T C 19: 24,355,153 (GRCm38) K389R probably damaging Het
Pla2g15 T A 8: 106,163,059 (GRCm38) M321K probably benign Het
Pnlip T A 19: 58,676,467 (GRCm38) D242E probably damaging Het
Ptpn21 T C 12: 98,679,392 (GRCm38) T1096A probably benign Het
Rims3 A T 4: 120,883,297 (GRCm38) probably benign Het
Rnf219 A G 14: 104,506,208 (GRCm38) L145P probably benign Het
Scfd2 T A 5: 74,519,595 (GRCm38) Q299L probably benign Het
Selplg T C 5: 113,819,033 (GRCm38) D404G probably benign Het
Slc15a5 T C 6: 138,055,645 (GRCm38) D237G probably benign Het
Slc16a12 T A 19: 34,674,891 (GRCm38) H285L possibly damaging Het
Sox2 C A 3: 34,650,713 (GRCm38) R100S probably damaging Het
Sspo G A 6: 48,500,453 (GRCm38) C4969Y probably damaging Het
Stxbp2 A G 8: 3,632,521 (GRCm38) S37G probably damaging Het
Tbxas1 T C 6: 39,083,857 (GRCm38) probably null Het
Tcf4 A G 18: 69,657,910 (GRCm38) Y307C probably damaging Het
Thsd7b A T 1: 130,049,909 (GRCm38) probably benign Het
Tnn G T 1: 160,116,245 (GRCm38) D999E possibly damaging Het
Trmt13 C A 3: 116,594,598 (GRCm38) W63L probably benign Het
Tsc2 T C 17: 24,604,909 (GRCm38) N915S probably benign Het
Tyrp1 T A 4: 80,840,806 (GRCm38) probably null Het
Uvrag A T 7: 98,989,587 (GRCm38) I315N probably damaging Het
Vmn1r31 C A 6: 58,471,968 (GRCm38) *304L probably null Het
Vmn2r59 T A 7: 42,012,262 (GRCm38) I710L probably benign Het
Vmn2r82 A T 10: 79,378,807 (GRCm38) H208L probably damaging Het
Wtap T C 17: 12,980,824 (GRCm38) T91A probably benign Het
Xirp1 A T 9: 120,017,027 (GRCm38) V930E probably damaging Het
Xpo4 T G 14: 57,590,108 (GRCm38) H877P probably benign Het
Other mutations in Dnajc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01969:Dnajc12 APN 10 63,395,830 (GRCm38) missense probably damaging 1.00
IGL02276:Dnajc12 APN 10 63,408,258 (GRCm38) missense probably damaging 1.00
IGL02669:Dnajc12 APN 10 63,397,292 (GRCm38) missense probably damaging 0.99
R1473:Dnajc12 UTSW 10 63,397,244 (GRCm38) missense probably benign 0.01
R2321:Dnajc12 UTSW 10 63,407,211 (GRCm38) splice site probably benign
R4391:Dnajc12 UTSW 10 63,407,059 (GRCm38) missense probably benign 0.02
R4726:Dnajc12 UTSW 10 63,397,308 (GRCm38) missense probably damaging 1.00
R5004:Dnajc12 UTSW 10 63,386,707 (GRCm38) missense probably benign 0.00
R6291:Dnajc12 UTSW 10 63,397,274 (GRCm38) missense probably benign 0.00
R6908:Dnajc12 UTSW 10 63,397,325 (GRCm38) missense probably benign 0.00
R7010:Dnajc12 UTSW 10 63,397,280 (GRCm38) missense probably benign
R7696:Dnajc12 UTSW 10 63,407,132 (GRCm38) missense probably benign
R7812:Dnajc12 UTSW 10 63,407,126 (GRCm38) missense probably benign 0.00
R9619:Dnajc12 UTSW 10 63,397,296 (GRCm38) missense probably damaging 1.00
Z1177:Dnajc12 UTSW 10 63,397,260 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-06-27