Incidental Mutation 'IGL02657:Dnajc2'
ID 302411
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc2
Ensembl Gene ENSMUSG00000029014
Gene Name DnaJ heat shock protein family (Hsp40) member C2
Synonyms MIDA1, Zrf1, Mida1, Zrf2
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # IGL02657
Quality Score
Status
Chromosome 5
Chromosomal Location 21757267-21785251 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 21770481 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030771] [ENSMUST00000115192] [ENSMUST00000115193] [ENSMUST00000115195]
AlphaFold P54103
Predicted Effect probably benign
Transcript: ENSMUST00000030771
SMART Domains Protein: ENSMUSP00000030771
Gene: ENSMUSG00000029014

DomainStartEndE-ValueType
coiled coil region 39 67 N/A INTRINSIC
DnaJ 87 153 2.16e-18 SMART
low complexity region 231 245 N/A INTRINSIC
low complexity region 281 319 N/A INTRINSIC
Pfam:RAC_head 339 430 2.8e-24 PFAM
SANT 450 509 6.64e-10 SMART
SANT 550 602 2.4e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115192
SMART Domains Protein: ENSMUSP00000110846
Gene: ENSMUSG00000029014

DomainStartEndE-ValueType
coiled coil region 39 67 N/A INTRINSIC
DnaJ 87 153 2.16e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115193
SMART Domains Protein: ENSMUSP00000110847
Gene: ENSMUSG00000029014

DomainStartEndE-ValueType
coiled coil region 39 67 N/A INTRINSIC
DnaJ 87 153 2.16e-18 SMART
coiled coil region 230 358 N/A INTRINSIC
coiled coil region 404 445 N/A INTRINSIC
SANT 450 509 6.64e-10 SMART
SANT 550 602 1.34e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115195
SMART Domains Protein: ENSMUSP00000110849
Gene: ENSMUSG00000029014

DomainStartEndE-ValueType
DnaJ 13 79 2.16e-18 SMART
coiled coil region 156 284 N/A INTRINSIC
coiled coil region 330 371 N/A INTRINSIC
SANT 376 435 6.64e-10 SMART
SANT 476 528 2.4e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147987
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the M-phase phosphoprotein (MPP) family. The gene encodes a phosphoprotein with a J domain and a Myb DNA-binding domain which localizes to both the nucleus and the cytosol. The protein is capable of forming a heterodimeric complex that associates with ribosomes, acting as a molecular chaperone for nascent polypeptide chains as they exit the ribosome. This protein was identified as a leukemia-associated antigen and expression of the gene is upregulated in leukemic blasts. Also, chromosomal aberrations involving this gene are associated with primary head and neck squamous cell tumors. This gene has a pseudogene on chromosome 6. Alternatively spliced variants which encode different protein isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,834,822 V120M possibly damaging Het
Aldh1l1 T C 6: 90,590,794 L680P probably damaging Het
Alox12 A T 11: 70,247,278 D410E probably benign Het
Amt T A 9: 108,301,380 V365E probably damaging Het
Ano9 A G 7: 141,107,440 S321P probably damaging Het
Atp2c2 A T 8: 119,753,032 I767F probably damaging Het
Bag1 A T 4: 40,936,643 Y338N probably benign Het
Bcr T A 10: 75,154,964 D767E probably benign Het
Chfr A T 5: 110,154,839 Q350L probably damaging Het
Cops3 A T 11: 59,830,217 L124H probably damaging Het
Ddx60 T C 8: 61,984,115 Y988H probably benign Het
Dym C T 18: 75,082,456 Q238* probably null Het
Fam126b A T 1: 58,535,402 W327R probably damaging Het
Fbn1 A T 2: 125,352,025 C1341S possibly damaging Het
Fryl G T 5: 73,054,860 N2308K probably benign Het
Gbp2b G T 3: 142,604,112 R221L probably damaging Het
Gm4070 T C 7: 105,896,765 K2360R probably damaging Het
Gpat2 A G 2: 127,427,331 N8S probably benign Het
Ift52 A G 2: 163,045,215 D379G probably damaging Het
Inhbe C A 10: 127,350,776 L178F probably damaging Het
Ipo5 T C 14: 120,943,800 Y913H possibly damaging Het
Kif21b T A 1: 136,172,230 D1507E possibly damaging Het
Lnx2 A G 5: 147,028,174 V413A probably damaging Het
Lrrc40 C A 3: 158,036,773 F16L probably damaging Het
Magi2 A G 5: 19,227,583 K99E probably damaging Het
Me3 A G 7: 89,846,253 I357M probably benign Het
Med30 A G 15: 52,719,365 Y66C probably benign Het
Mief2 A T 11: 60,730,957 S118C probably damaging Het
Mylip A G 13: 45,391,246 S49G probably benign Het
Ncoa7 T A 10: 30,652,976 D107V probably damaging Het
Nvl C A 1: 181,106,976 V655F probably damaging Het
Olfml2b C T 1: 170,681,076 T501I probably benign Het
Ormdl2 T C 10: 128,820,317 I40V probably benign Het
Pde6b G T 5: 108,420,276 probably benign Het
Ralgapa1 A C 12: 55,673,507 L1785W probably damaging Het
Rnf112 A T 11: 61,450,252 probably null Het
Sema3c T A 5: 17,662,974 Y128N probably damaging Het
Sema3c A T 5: 17,576,868 M1L possibly damaging Het
Sema4b G A 7: 80,217,041 G255D probably damaging Het
Setd1a C T 7: 127,795,825 probably benign Het
Sirpb1a A C 3: 15,417,051 S72R possibly damaging Het
Slu7 T A 11: 43,442,022 probably null Het
Spata19 T C 9: 27,397,980 V59A probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Suclg1 T A 6: 73,260,521 V83E probably damaging Het
Syncrip G T 9: 88,456,404 R536S probably benign Het
Tap2 T C 17: 34,205,458 V55A probably damaging Het
Tekt4 T C 17: 25,473,758 I186T possibly damaging Het
Trpc6 C A 9: 8,643,601 D462E possibly damaging Het
Ubqln3 T G 7: 104,141,963 T307P probably damaging Het
Vmn1r64 A T 7: 5,883,728 I272K probably benign Het
Xpr1 T C 1: 155,290,280 T574A probably benign Het
Zfc3h1 A G 10: 115,411,954 T1021A possibly damaging Het
Zfp512 A T 5: 31,471,157 H159L probably damaging Het
Other mutations in Dnajc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Dnajc2 APN 5 21774976 missense possibly damaging 0.83
IGL01479:Dnajc2 APN 5 21757893 missense probably damaging 1.00
IGL01804:Dnajc2 APN 5 21757363 missense probably damaging 1.00
IGL02478:Dnajc2 APN 5 21776790 missense probably damaging 1.00
IGL02552:Dnajc2 APN 5 21783063 missense probably damaging 1.00
IGL02832:Dnajc2 APN 5 21760410 missense probably benign
IGL03177:Dnajc2 APN 5 21775081 splice site probably benign
R1914:Dnajc2 UTSW 5 21781319 critical splice donor site probably null
R1915:Dnajc2 UTSW 5 21781319 critical splice donor site probably null
R2024:Dnajc2 UTSW 5 21776790 missense probably damaging 1.00
R2437:Dnajc2 UTSW 5 21760391 missense probably benign 0.06
R4177:Dnajc2 UTSW 5 21757396 missense probably benign 0.28
R4451:Dnajc2 UTSW 5 21757794 missense possibly damaging 0.93
R4812:Dnajc2 UTSW 5 21763486 missense probably benign 0.03
R4916:Dnajc2 UTSW 5 21757340 missense probably damaging 1.00
R5013:Dnajc2 UTSW 5 21757773 nonsense probably null
R5094:Dnajc2 UTSW 5 21776732 missense probably damaging 1.00
R5124:Dnajc2 UTSW 5 21763484 missense probably benign
R5891:Dnajc2 UTSW 5 21761711 missense possibly damaging 0.67
R6192:Dnajc2 UTSW 5 21768648 missense probably damaging 1.00
R6567:Dnajc2 UTSW 5 21766678 missense probably damaging 1.00
R7211:Dnajc2 UTSW 5 21776779 missense probably damaging 1.00
R7216:Dnajc2 UTSW 5 21776779 missense probably damaging 1.00
R7418:Dnajc2 UTSW 5 21760624 critical splice donor site probably null
R7728:Dnajc2 UTSW 5 21770540 missense possibly damaging 0.62
R7877:Dnajc2 UTSW 5 21760639 missense possibly damaging 0.88
R8156:Dnajc2 UTSW 5 21781319 critical splice donor site probably null
R8231:Dnajc2 UTSW 5 21761691 missense probably benign 0.00
R8360:Dnajc2 UTSW 5 21757707 missense unknown
R8880:Dnajc2 UTSW 5 21768672 missense probably damaging 1.00
R9648:Dnajc2 UTSW 5 21763480 missense probably damaging 0.98
RF040:Dnajc2 UTSW 5 21757697 makesense probably null
X0027:Dnajc2 UTSW 5 21773811 missense possibly damaging 0.82
Posted On 2015-04-16