Incidental Mutation 'IGL01301:Dnajc1'
ID 73237
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc1
Ensembl Gene ENSMUSG00000026740
Gene Name DnaJ heat shock protein family (Hsp40) member C1
Synonyms MTJ1, Dnajl1, ERdj1, D230036H06Rik, 4733401K02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # IGL01301
Quality Score
Status
Chromosome 2
Chromosomal Location 18210445-18402025 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18313645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 159 (T159A)
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 damaging
Transcript: ENSMUST00000091418
AA Change: T159A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088980
Gene: ENSMUSG00000026740
AA Change: T159A

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: ENSMUST00000164606
Predicted Effect probably benign
Transcript: ENSMUST00000164835
Predicted Effect probably damaging
Transcript: ENSMUST00000166495
AA Change: T159A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126321
Gene: ENSMUSG00000026740
AA Change: T159A

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik C T 17: 15,164,181 (GRCm39) probably null Het
Acacb A T 5: 114,384,559 (GRCm39) I2238L probably benign Het
Aldh1l2 T C 10: 83,358,710 (GRCm39) Y95C probably damaging Het
Asxl2 A G 12: 3,551,425 (GRCm39) T1056A probably damaging Het
B4galnt1 A G 10: 127,005,648 (GRCm39) T250A possibly damaging Het
Cela3b A T 4: 137,151,154 (GRCm39) probably null Het
Chst3 T C 10: 60,021,654 (GRCm39) T398A probably damaging Het
Cngb3 A G 4: 19,425,625 (GRCm39) T478A probably damaging Het
Cyp4a10 T C 4: 115,375,652 (GRCm39) L45P probably damaging Het
Defb21 A G 2: 152,416,671 (GRCm39) E49G possibly damaging Het
Dnmbp A G 19: 43,890,793 (GRCm39) S325P probably benign Het
Fam91a1 T C 15: 58,314,720 (GRCm39) F534L probably damaging Het
Fermt2 T C 14: 45,702,320 (GRCm39) E488G probably damaging Het
Filip1 T C 9: 79,726,462 (GRCm39) D719G possibly damaging Het
Gad1-ps A G 10: 99,281,013 (GRCm39) noncoding transcript Het
Glra3 C A 8: 56,393,997 (GRCm39) A36E probably benign Het
Gm9884 T A 1: 25,869,729 (GRCm39) probably benign Het
Hectd2 T C 19: 36,546,770 (GRCm39) probably benign Het
Hnrnpm C T 17: 33,888,142 (GRCm39) probably null Het
Lrrk2 T A 15: 91,651,542 (GRCm39) Y1733N probably damaging Het
Mindy1 T C 3: 95,195,701 (GRCm39) L148P probably damaging Het
Mkrn2 C A 6: 115,588,750 (GRCm39) Y164* probably null Het
Msra T C 14: 64,447,884 (GRCm39) Y135C probably damaging Het
Ndst3 C T 3: 123,342,565 (GRCm39) A749T probably damaging Het
Ngdn G T 14: 55,254,571 (GRCm39) A41S probably benign Het
Nlrp12 A T 7: 3,288,722 (GRCm39) S597T probably damaging Het
Or5b99 A T 19: 12,976,781 (GRCm39) I144F probably damaging Het
Pabpc6 A G 17: 9,886,899 (GRCm39) S551P probably benign Het
Plekhg5 C T 4: 152,197,010 (GRCm39) A752V probably benign Het
Prpf4b T C 13: 35,068,274 (GRCm39) S368P probably benign Het
Pus7 A G 5: 23,951,422 (GRCm39) probably null Het
Rad23b T C 4: 55,366,774 (GRCm39) probably benign Het
Rgs13 T C 1: 144,047,152 (GRCm39) probably benign Het
Sfpq T C 4: 126,920,553 (GRCm39) probably benign Het
Slc9a9 T A 9: 94,937,512 (GRCm39) S455T probably benign Het
Slco1a1 A G 6: 141,878,256 (GRCm39) probably benign Het
Tmem26 A T 10: 68,614,436 (GRCm39) N284Y probably damaging Het
Tmem87a T C 2: 120,211,250 (GRCm39) I232V probably benign Het
Trpm2 A G 10: 77,759,818 (GRCm39) L1106P probably damaging Het
Vmn1r18 T C 6: 57,366,652 (GRCm39) probably benign Het
Zfp213 G T 17: 23,780,391 (GRCm39) A43D probably benign Het
Zfp365 A G 10: 67,745,184 (GRCm39) V198A probably damaging Het
Zfp395 T A 14: 65,632,200 (GRCm39) probably null Het
Zfp618 G A 4: 63,051,063 (GRCm39) V615M probably damaging Het
Other mutations in Dnajc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Dnajc1 APN 2 18,313,713 (GRCm39) missense possibly damaging 0.80
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
R5802:Dnajc1 UTSW 2 18,289,550 (GRCm39) missense probably benign 0.41
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
Posted On 2013-10-07