Incidental Mutation 'IGL01313:Dnajc2'
ID 73758
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 Zrf1, Zrf2, MIDA1, Mida1
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # IGL01313
Quality Score
Status
Chromosome 5
Chromosomal Location 21962279-21990183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21979974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 177 (N177S)
Ref Sequence ENSEMBL: ENSMUSP00000110846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030771] [ENSMUST00000115192] [ENSMUST00000115193] [ENSMUST00000115195]
AlphaFold P54103
Predicted Effect probably benign
Transcript: ENSMUST00000030771
AA Change: N177S

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000030771
Gene: ENSMUSG00000029014
AA Change: N177S

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 possibly damaging
Transcript: ENSMUST00000115192
AA Change: N177S

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110846
Gene: ENSMUSG00000029014
AA Change: N177S

DomainStartEndE-ValueType
coiled coil region 39 67 N/A INTRINSIC
DnaJ 87 153 2.16e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115193
AA Change: N177S

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110847
Gene: ENSMUSG00000029014
AA Change: N177S

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
AA Change: N103S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000110849
Gene: ENSMUSG00000029014
AA Change: N103S

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: 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,621,969 (GRCm39) probably null Het
Abca7 T A 10: 79,838,957 (GRCm39) probably benign Het
Acvr1c T G 2: 58,205,986 (GRCm39) Q41H probably benign Het
Apob A T 12: 8,050,898 (GRCm39) N1041Y probably damaging Het
Asb5 A T 8: 55,038,798 (GRCm39) probably benign Het
Asxl3 A T 18: 22,650,516 (GRCm39) E835V probably benign Het
Ccdc73 A T 2: 104,737,972 (GRCm39) M23L probably benign Het
Cep170b G A 12: 112,702,086 (GRCm39) R293H probably damaging Het
Chd8 C A 14: 52,448,032 (GRCm39) L316F probably damaging Het
Cldn13 T C 5: 134,944,114 (GRCm39) S24G possibly damaging Het
Cnot10 A T 9: 114,460,923 (GRCm39) N82K probably benign Het
Colec10 G A 15: 54,323,157 (GRCm39) V127M probably damaging Het
Cyp2d40 T C 15: 82,645,478 (GRCm39) S130G unknown Het
Ddx60 T A 8: 62,435,560 (GRCm39) H904Q probably damaging Het
Dnaaf11 A T 15: 66,252,362 (GRCm39) S435T probably benign Het
F5 G T 1: 164,021,181 (GRCm39) V1219L probably benign Het
Fam47c G T X: 77,781,454 (GRCm39) R12L probably damaging Het
Fat4 T C 3: 39,061,350 (GRCm39) I4311T possibly damaging Het
Fbf1 A G 11: 116,041,907 (GRCm39) V545A probably benign Het
Fhod3 G A 18: 25,153,777 (GRCm39) E420K probably damaging Het
Ikzf2 T C 1: 69,578,589 (GRCm39) K162E probably damaging Het
Insl6 C A 19: 29,298,953 (GRCm39) S153I possibly damaging Het
Kcnh8 A G 17: 53,141,708 (GRCm39) Y317C probably damaging Het
Lzts1 C A 8: 69,591,759 (GRCm39) V130L probably benign Het
Mill1 T C 7: 17,998,558 (GRCm39) I256T possibly damaging Het
Mycbpap A C 11: 94,400,145 (GRCm39) probably null Het
Or6c65 A G 10: 129,603,464 (GRCm39) Y33C probably damaging Het
Pdia6 T A 12: 17,320,542 (GRCm39) probably benign Het
Pik3c2b C T 1: 132,999,369 (GRCm39) Q406* probably null Het
Pkhd1 C A 1: 20,271,248 (GRCm39) G3102C probably damaging Het
Polr3b T A 10: 84,561,607 (GRCm39) I1122N probably damaging Het
Ryr2 T A 13: 11,653,371 (GRCm39) probably null Het
Samhd1 A G 2: 156,958,321 (GRCm39) I300T probably damaging Het
Skint5 T A 4: 113,662,361 (GRCm39) I609F unknown Het
Slc27a3 G T 3: 90,293,861 (GRCm39) T541K probably damaging Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Sv2c C T 13: 96,224,797 (GRCm39) V171M probably damaging Het
Tenm2 A G 11: 35,915,075 (GRCm39) V2154A probably damaging Het
Thoc1 A T 18: 9,987,158 (GRCm39) I433F probably benign Het
Thoc2 A T X: 40,916,223 (GRCm39) V865D probably benign Het
Trdn C A 10: 33,076,216 (GRCm39) P282Q probably damaging Het
Twsg1 C A 17: 66,255,699 (GRCm39) C25F probably damaging Het
Usp34 T A 11: 23,423,206 (GRCm39) I3155N probably damaging Het
Vmn2r106 T A 17: 20,498,651 (GRCm39) Q420L probably damaging Het
Vmn2r109 C T 17: 20,770,419 (GRCm39) R523K probably damaging Het
Other mutations in Dnajc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01479:Dnajc2 APN 5 21,962,891 (GRCm39) missense probably damaging 1.00
IGL01804:Dnajc2 APN 5 21,962,361 (GRCm39) missense probably damaging 1.00
IGL02478:Dnajc2 APN 5 21,981,788 (GRCm39) missense probably damaging 1.00
IGL02552:Dnajc2 APN 5 21,988,061 (GRCm39) missense probably damaging 1.00
IGL02657:Dnajc2 APN 5 21,975,479 (GRCm39) splice site probably benign
IGL02832:Dnajc2 APN 5 21,965,408 (GRCm39) missense probably benign
IGL03177:Dnajc2 APN 5 21,980,079 (GRCm39) splice site probably benign
R1914:Dnajc2 UTSW 5 21,986,317 (GRCm39) critical splice donor site probably null
R1915:Dnajc2 UTSW 5 21,986,317 (GRCm39) critical splice donor site probably null
R2024:Dnajc2 UTSW 5 21,981,788 (GRCm39) missense probably damaging 1.00
R2437:Dnajc2 UTSW 5 21,965,389 (GRCm39) missense probably benign 0.06
R4177:Dnajc2 UTSW 5 21,962,394 (GRCm39) missense probably benign 0.28
R4451:Dnajc2 UTSW 5 21,962,792 (GRCm39) missense possibly damaging 0.93
R4812:Dnajc2 UTSW 5 21,968,484 (GRCm39) missense probably benign 0.03
R4916:Dnajc2 UTSW 5 21,962,338 (GRCm39) missense probably damaging 1.00
R5013:Dnajc2 UTSW 5 21,962,771 (GRCm39) nonsense probably null
R5094:Dnajc2 UTSW 5 21,981,730 (GRCm39) missense probably damaging 1.00
R5124:Dnajc2 UTSW 5 21,968,482 (GRCm39) missense probably benign
R5891:Dnajc2 UTSW 5 21,966,709 (GRCm39) missense possibly damaging 0.67
R6192:Dnajc2 UTSW 5 21,973,646 (GRCm39) missense probably damaging 1.00
R6567:Dnajc2 UTSW 5 21,971,676 (GRCm39) missense probably damaging 1.00
R7211:Dnajc2 UTSW 5 21,981,777 (GRCm39) missense probably damaging 1.00
R7216:Dnajc2 UTSW 5 21,981,777 (GRCm39) missense probably damaging 1.00
R7418:Dnajc2 UTSW 5 21,965,622 (GRCm39) critical splice donor site probably null
R7728:Dnajc2 UTSW 5 21,975,538 (GRCm39) missense possibly damaging 0.62
R7877:Dnajc2 UTSW 5 21,965,637 (GRCm39) missense possibly damaging 0.88
R8156:Dnajc2 UTSW 5 21,986,317 (GRCm39) critical splice donor site probably null
R8231:Dnajc2 UTSW 5 21,966,689 (GRCm39) missense probably benign 0.00
R8360:Dnajc2 UTSW 5 21,962,705 (GRCm39) missense unknown
R8880:Dnajc2 UTSW 5 21,973,670 (GRCm39) missense probably damaging 1.00
R9648:Dnajc2 UTSW 5 21,968,478 (GRCm39) missense probably damaging 0.98
RF040:Dnajc2 UTSW 5 21,962,695 (GRCm39) makesense probably null
X0027:Dnajc2 UTSW 5 21,978,809 (GRCm39) missense possibly damaging 0.82
Posted On 2013-10-07