Incidental Mutation 'IGL02080:Dnajc1'
ID186102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc1
Ensembl Gene ENSMUSG00000026740
Gene NameDnaJ heat shock protein family (Hsp40) member C1
Synonyms4733401K02Rik, MTJ1, Dnajl1, D230036H06Rik, ERdj1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.113) question?
Stock #IGL02080
Quality Score
Status
Chromosome2
Chromosomal Location18195654-18392830 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 18316348 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000028072] [ENSMUST00000091418] [ENSMUST00000166495]
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
SMART Domains Protein: ENSMUSP00000088980
Gene: ENSMUSG00000026740

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 noncoding transcript
Transcript: ENSMUST00000153055
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 noncoding transcript
Transcript: ENSMUST00000165793
Predicted Effect probably benign
Transcript: ENSMUST00000166495
SMART Domains Protein: ENSMUSP00000126321
Gene: ENSMUSG00000026740

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: ENSMUST00000168723
SMART Domains Protein: ENSMUSP00000126716
Gene: ENSMUSG00000026740

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
Coding Region Coverage
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd33 A G 7: 43,528,850 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dpysl2 A T 14: 66,829,945 D172E probably benign Het
Fbxw28 A G 9: 109,339,573 L17P probably damaging Het
Gprin3 C A 6: 59,354,191 R377M possibly damaging Het
Hectd4 T A 5: 121,366,606 probably benign Het
Kif26a G T 12: 112,157,566 A202S probably damaging Het
Lrig2 A T 3: 104,464,124 D754E probably damaging Het
Lrit2 A G 14: 37,069,074 K237E probably damaging Het
Med13 A G 11: 86,283,812 V1729A probably damaging Het
Mon2 A G 10: 123,052,190 S100P probably damaging Het
Mrnip A G 11: 50,197,675 D166G probably benign Het
Olfr1496 T C 19: 13,781,482 F288S probably damaging Het
Olfr728 A T 14: 50,140,122 N172K probably damaging Het
Pkd1l1 T A 11: 8,961,345 N311Y unknown Het
Ppara A G 15: 85,789,019 D137G possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Scube2 A G 7: 109,852,478 F156S probably damaging Het
Setd2 T G 9: 110,547,450 probably null Het
Slc24a2 A G 4: 87,227,146 C224R probably damaging Het
Snrnp48 A G 13: 38,216,490 D191G probably damaging Het
Spo11 A G 2: 172,989,395 Y266C probably damaging Het
Tmem144 G A 3: 79,822,759 probably benign Het
Tsacc A T 3: 88,295,389 probably null Het
Unc5d T C 8: 28,891,288 probably null Het
Unc79 A G 12: 103,001,975 I153M probably damaging Het
Vgll4 A G 6: 114,862,798 C178R probably damaging Het
Vmn2r90 T A 17: 17,712,858 S227T probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Dnajc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Dnajc1 APN 2 18308902 missense possibly damaging 0.80
IGL01301:Dnajc1 APN 2 18308834 missense probably damaging 0.99
IGL03058:Dnajc1 APN 2 18217321 missense possibly damaging 0.90
ANU18:Dnajc1 UTSW 2 18308834 missense probably damaging 0.99
R0537:Dnajc1 UTSW 2 18307956 missense possibly damaging 0.63
R0630:Dnajc1 UTSW 2 18231801 missense probably damaging 1.00
R1187:Dnajc1 UTSW 2 18284709 missense probably benign 0.01
R1511:Dnajc1 UTSW 2 18222727 missense possibly damaging 0.88
R1844:Dnajc1 UTSW 2 18294027 nonsense probably null
R1848:Dnajc1 UTSW 2 18219713 missense probably damaging 1.00
R2174:Dnajc1 UTSW 2 18307951 missense probably damaging 0.99
R2199:Dnajc1 UTSW 2 18308899 missense probably damaging 1.00
R2211:Dnajc1 UTSW 2 18392475 missense probably damaging 0.99
R2471:Dnajc1 UTSW 2 18219816 missense possibly damaging 0.75
R4758:Dnajc1 UTSW 2 18308946 nonsense probably null
R5790:Dnajc1 UTSW 2 18307087 intron probably benign
R5802:Dnajc1 UTSW 2 18284739 missense probably benign 0.41
R5950:Dnajc1 UTSW 2 18306941 intron probably benign
R6049:Dnajc1 UTSW 2 18231700 splice site probably null
R6770:Dnajc1 UTSW 2 18217271 unclassified probably benign
R7242:Dnajc1 UTSW 2 18293972 missense probably benign 0.06
R7462:Dnajc1 UTSW 2 18308899 missense probably damaging 0.99
R7716:Dnajc1 UTSW 2 18219873 missense probably benign 0.00
R7846:Dnajc1 UTSW 2 18219893 missense possibly damaging 0.56
R7929:Dnajc1 UTSW 2 18219893 missense possibly damaging 0.56
Posted On2014-05-07