Incidental Mutation 'R5802:Dnajc1'
ID 448763
Institutional Source Beutler Lab
Gene Symbol Dnajc1
Ensembl Gene ENSMUSG00000026740
Gene Name DnaJ heat shock protein family (Hsp40) member C1
Synonyms MTJ1, Dnajl1, ERdj1, D230036H06Rik, 4733401K02Rik
MMRRC Submission 043391-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R5802 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 18210445-18402025 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18289550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 286 (Y286H)
Ref Sequence ENSEMBL: ENSMUSP00000126321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028072] [ENSMUST00000091418] [ENSMUST00000166495]
AlphaFold Q61712
Predicted Effect probably benign
Transcript: ENSMUST00000028072
SMART Domains Protein: ENSMUSP00000028072
Gene: ENSMUSG00000026740

DomainStartEndE-ValueType
signal peptide 1 43 N/A INTRINSIC
DnaJ 60 104 5.4e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000091418
AA Change: Y286H

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000088980
Gene: ENSMUSG00000026740
AA Change: Y286H

DomainStartEndE-ValueType
signal peptide 1 43 N/A INTRINSIC
DnaJ 60 117 5.73e-23 SMART
transmembrane domain 149 171 N/A INTRINSIC
low complexity region 177 194 N/A INTRINSIC
low complexity region 269 281 N/A INTRINSIC
SANT 324 375 2.06e-6 SMART
low complexity region 416 434 N/A INTRINSIC
low complexity region 438 451 N/A INTRINSIC
SANT 491 543 3.56e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163130
SMART Domains Protein: ENSMUSP00000129176
Gene: ENSMUSG00000026740

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
DnaJ 34 78 5.4e-10 SMART
Predicted Effect silent
Transcript: ENSMUST00000164835
Predicted Effect probably benign
Transcript: ENSMUST00000166495
AA Change: Y286H

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126321
Gene: ENSMUSG00000026740
AA Change: Y286H

DomainStartEndE-ValueType
signal peptide 1 43 N/A INTRINSIC
DnaJ 60 117 5.73e-23 SMART
transmembrane domain 149 171 N/A INTRINSIC
low complexity region 177 194 N/A INTRINSIC
low complexity region 269 281 N/A INTRINSIC
SANT 324 375 2.06e-6 SMART
low complexity region 416 434 N/A INTRINSIC
low complexity region 438 451 N/A INTRINSIC
SANT 491 543 3.56e-10 SMART
Predicted Effect unknown
Transcript: ENSMUST00000168723
AA Change: Y90H
SMART Domains Protein: ENSMUSP00000126716
Gene: ENSMUSG00000026740
AA Change: Y90H

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 74 86 N/A INTRINSIC
SANT 129 180 2.06e-6 SMART
low complexity region 221 239 N/A INTRINSIC
low complexity region 243 256 N/A INTRINSIC
SANT 296 348 3.56e-10 SMART
Meta Mutation Damage Score 0.0715 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (63/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane protein encoded by this gene is a DNAJ-like heat shock protein that binds the molecular chaperone BiP. In addition, the encoded protein contains two SANT domains that have been shown to bind serpin alpha1-antichymotrypsin and inter-alpha trypsin inhibitor heavy chain 4. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 12,021,188 (GRCm39) D383V probably damaging Het
AAdacl4fm3 T A 4: 144,430,206 (GRCm39) D261V probably damaging Het
Abca4 A T 3: 121,847,881 (GRCm39) L67F probably damaging Het
Abcc9 C A 6: 142,602,402 (GRCm39) probably null Het
Atp2a3 T C 11: 72,863,708 (GRCm39) V175A probably damaging Het
B3galt4 T A 17: 34,169,731 (GRCm39) D169V probably damaging Het
Bsn C T 9: 107,990,208 (GRCm39) R1848Q possibly damaging Het
Camkk2 T C 5: 122,872,307 (GRCm39) E90G probably damaging Het
Cdon T A 9: 35,365,716 (GRCm39) I155N probably damaging Het
Cep70 A G 9: 99,178,458 (GRCm39) N519D probably damaging Het
Clgn T C 8: 84,152,243 (GRCm39) S582P probably damaging Het
Cnga3 T C 1: 37,300,006 (GRCm39) F280S probably damaging Het
Dennd4c C T 4: 86,729,690 (GRCm39) T764M probably benign Het
Dis3 A T 14: 99,337,100 (GRCm39) S4T probably damaging Het
Dlgap1 T C 17: 71,073,086 (GRCm39) probably null Het
Dnah17 C T 11: 117,927,272 (GRCm39) V3839I possibly damaging Het
Dynap T A 18: 70,374,073 (GRCm39) D151V unknown Het
Ednrb A G 14: 104,059,150 (GRCm39) F292S probably damaging Het
Eef1a1 A G 9: 78,386,318 (GRCm39) S396P probably damaging Het
Fancg A G 4: 43,006,582 (GRCm39) F324S probably benign Het
Fbxw11 T A 11: 32,661,790 (GRCm39) S56T probably benign Het
Gm17535 G C 9: 3,035,758 (GRCm39) V209L probably benign Homo
Gm5592 C T 7: 40,868,529 (GRCm39) probably benign Het
Gpr137 C T 19: 6,919,373 (GRCm39) W51* probably null Het
H2-T9 A G 17: 36,422,179 (GRCm39) probably benign Het
Hbb-bs T C 7: 103,475,879 (GRCm39) Y146C probably damaging Het
Herc1 G T 9: 66,370,160 (GRCm39) C2982F probably damaging Het
Hnrnpa3 T A 2: 75,495,400 (GRCm39) N309K unknown Het
Hydin A T 8: 111,178,692 (GRCm39) I1096F possibly damaging Het
Klf12 A G 14: 100,260,330 (GRCm39) V133A probably benign Het
Lats2 A T 14: 57,931,875 (GRCm39) Y848N probably damaging Het
Loxl3 A G 6: 83,026,270 (GRCm39) T453A possibly damaging Het
Ltn1 T G 16: 87,212,569 (GRCm39) H664P probably benign Het
Lypd6 C T 2: 50,063,613 (GRCm39) T40I probably benign Het
Nbeal1 A T 1: 60,311,380 (GRCm39) T1817S probably benign Het
Nub1 A C 5: 24,907,439 (GRCm39) Y350S possibly damaging Het
Pbp2 A G 6: 135,286,874 (GRCm39) Y158H possibly damaging Het
Ptpru C T 4: 131,515,688 (GRCm39) E827K possibly damaging Het
Rap1a A G 3: 105,653,252 (GRCm39) Y32H probably damaging Het
Raph1 T C 1: 60,527,832 (GRCm39) N1143S possibly damaging Het
Rbl1 T C 2: 157,003,353 (GRCm39) T859A probably benign Het
Rom1 A G 19: 8,906,188 (GRCm39) L117P probably damaging Het
Senp6 T C 9: 80,025,926 (GRCm39) probably benign Het
Sirpb1c T C 3: 15,886,240 (GRCm39) M379V probably benign Het
Slc6a4 C T 11: 76,910,062 (GRCm39) T439M probably damaging Het
Srsf12 G T 4: 33,230,929 (GRCm39) R141L probably damaging Het
Stk10 C T 11: 32,546,748 (GRCm39) P335L probably benign Het
Tcstv2c G A 13: 120,616,449 (GRCm39) S96N possibly damaging Het
Tecpr1 A T 5: 144,143,364 (GRCm39) N670K probably benign Het
Tgds T C 14: 118,370,119 (GRCm39) E8G probably benign Het
Tmem129 A G 5: 33,815,060 (GRCm39) S38P probably damaging Het
Trappc9 T C 15: 72,557,188 (GRCm39) E812G probably damaging Het
Trmt10b T A 4: 45,314,236 (GRCm39) probably benign Het
Wapl A G 14: 34,414,277 (GRCm39) T380A probably damaging Het
Xylt1 A T 7: 117,255,914 (GRCm39) T829S probably benign Het
Zc3h6 C T 2: 128,857,479 (GRCm39) P666L possibly damaging Het
Zfp1010 T C 2: 176,957,049 (GRCm39) T150A possibly damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Dnajc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Dnajc1 APN 2 18,313,713 (GRCm39) missense possibly damaging 0.80
IGL01301:Dnajc1 APN 2 18,313,645 (GRCm39) missense probably damaging 0.99
IGL02080:Dnajc1 APN 2 18,321,159 (GRCm39) intron probably benign
IGL03058:Dnajc1 APN 2 18,222,132 (GRCm39) missense possibly damaging 0.90
ANU18:Dnajc1 UTSW 2 18,313,645 (GRCm39) missense probably damaging 0.99
R0537:Dnajc1 UTSW 2 18,312,767 (GRCm39) missense possibly damaging 0.63
R0630:Dnajc1 UTSW 2 18,236,612 (GRCm39) missense probably damaging 1.00
R1187:Dnajc1 UTSW 2 18,289,520 (GRCm39) missense probably benign 0.01
R1511:Dnajc1 UTSW 2 18,227,538 (GRCm39) missense possibly damaging 0.88
R1844:Dnajc1 UTSW 2 18,298,838 (GRCm39) nonsense probably null
R1848:Dnajc1 UTSW 2 18,224,524 (GRCm39) missense probably damaging 1.00
R2174:Dnajc1 UTSW 2 18,312,762 (GRCm39) missense probably damaging 0.99
R2199:Dnajc1 UTSW 2 18,313,710 (GRCm39) missense probably damaging 1.00
R2211:Dnajc1 UTSW 2 18,397,286 (GRCm39) missense probably damaging 0.99
R2471:Dnajc1 UTSW 2 18,224,627 (GRCm39) missense possibly damaging 0.75
R4758:Dnajc1 UTSW 2 18,313,757 (GRCm39) nonsense probably null
R5790:Dnajc1 UTSW 2 18,311,898 (GRCm39) intron probably benign
R5950:Dnajc1 UTSW 2 18,311,752 (GRCm39) intron probably benign
R6049:Dnajc1 UTSW 2 18,236,511 (GRCm39) splice site probably null
R6770:Dnajc1 UTSW 2 18,222,082 (GRCm39) unclassified probably benign
R7242:Dnajc1 UTSW 2 18,298,783 (GRCm39) missense probably benign 0.06
R7462:Dnajc1 UTSW 2 18,313,710 (GRCm39) missense probably damaging 0.99
R7716:Dnajc1 UTSW 2 18,224,684 (GRCm39) missense probably benign 0.00
R7846:Dnajc1 UTSW 2 18,224,704 (GRCm39) missense possibly damaging 0.56
R7963:Dnajc1 UTSW 2 18,227,535 (GRCm39) missense possibly damaging 0.66
R8750:Dnajc1 UTSW 2 18,313,645 (GRCm39) missense probably damaging 0.99
R8967:Dnajc1 UTSW 2 18,313,757 (GRCm39) nonsense probably null
R9344:Dnajc1 UTSW 2 18,289,586 (GRCm39) missense probably benign 0.01
Z1176:Dnajc1 UTSW 2 18,298,798 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- TGGACTCTGGATTTGATCTCCATG -3'
(R):5'- GCAGTGGTCAGTGAGCAATATTG -3'

Sequencing Primer
(F):5'- GGATTTGATCTCCATGCAGCTC -3'
(R):5'- CTTCAAAGATGGAGTCTACGA -3'
Posted On 2016-12-15