Incidental Mutation 'R7216:Dnajc2'
ID 561450
Institutional Source Beutler Lab
Gene Symbol Dnajc2
Ensembl Gene ENSMUSG00000029014
Gene Name DnaJ heat shock protein family (Hsp40) member C2
Synonyms Zrf1, Zrf2, MIDA1, Mida1
MMRRC Submission 045288-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R7216 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 21962279-21990183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 21981777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 123 (R123Q)
Ref Sequence ENSEMBL: ENSMUSP00000030771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030771] [ENSMUST00000115192] [ENSMUST00000115193] [ENSMUST00000115195]
AlphaFold P54103
Predicted Effect probably damaging
Transcript: ENSMUST00000030771
AA Change: R123Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000030771
Gene: ENSMUSG00000029014
AA Change: R123Q

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 damaging
Transcript: ENSMUST00000115192
AA Change: R123Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110846
Gene: ENSMUSG00000029014
AA Change: R123Q

DomainStartEndE-ValueType
coiled coil region 39 67 N/A INTRINSIC
DnaJ 87 153 2.16e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115193
AA Change: R123Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110847
Gene: ENSMUSG00000029014
AA Change: R123Q

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 damaging
Transcript: ENSMUST00000115195
AA Change: R49Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110849
Gene: ENSMUSG00000029014
AA Change: R49Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 53,187,240 (GRCm39) N1551K probably benign Het
Amy2a1 T C 3: 113,324,090 (GRCm39) D150G possibly damaging Het
Atp2b1 T A 10: 98,822,839 (GRCm39) C165S probably benign Het
Atp2c1 A T 9: 105,344,930 (GRCm39) D102E probably benign Het
Capn8 C A 1: 182,426,363 (GRCm39) R233S possibly damaging Het
Cd48 T C 1: 171,523,390 (GRCm39) S78P probably damaging Het
Clasp1 T A 1: 118,475,648 (GRCm39) D944E probably benign Het
Clip2 A G 5: 134,531,771 (GRCm39) M678T probably benign Het
Clmp T C 9: 40,672,205 (GRCm39) Y12H possibly damaging Het
Col22a1 A T 15: 71,845,694 (GRCm39) V356D probably damaging Het
Copg2 A T 6: 30,862,535 (GRCm39) D101E probably damaging Het
Cpsf6 G A 10: 117,197,928 (GRCm39) P229S unknown Het
Dgke T C 11: 88,941,163 (GRCm39) D340G probably benign Het
Dlg1 TAAA TAA 16: 31,615,736 (GRCm39) probably null Het
Dlg5 G A 14: 24,186,706 (GRCm39) Q1865* probably null Het
Efcab3 A T 11: 104,771,375 (GRCm39) K2633N possibly damaging Het
Egln2 T C 7: 26,859,254 (GRCm39) D365G probably damaging Het
Epha4 T C 1: 77,421,621 (GRCm39) D287G probably damaging Het
Fat4 A G 3: 38,945,192 (GRCm39) T1362A probably damaging Het
Flt4 A G 11: 49,525,508 (GRCm39) T685A possibly damaging Het
Fras1 T C 5: 96,887,173 (GRCm39) Y2652H probably damaging Het
Gas2 A G 7: 51,547,005 (GRCm39) E52G possibly damaging Het
Gm5093 A T 17: 46,751,014 (GRCm39) D4E not run Het
Gm6370 A T 5: 146,430,723 (GRCm39) T303S probably benign Het
Gpr161 A G 1: 165,134,115 (GRCm39) I126V probably benign Het
Gpr63 T C 4: 25,008,038 (GRCm39) L254P probably damaging Het
H2-M9 C T 17: 36,951,594 (GRCm39) V294I probably benign Het
Insr T A 8: 3,253,034 (GRCm39) N375I possibly damaging Het
Ints1 T C 5: 139,754,739 (GRCm39) N600S possibly damaging Het
Ints10 A G 8: 69,274,809 (GRCm39) N628S probably damaging Het
Irf2 A G 8: 47,246,591 (GRCm39) T20A probably benign Het
Irs1 T A 1: 82,267,476 (GRCm39) T247S probably damaging Het
Islr C T 9: 58,064,250 (GRCm39) S419N unknown Het
Kcna2 T A 3: 107,012,109 (GRCm39) I230N probably damaging Het
Kif3c C A 12: 3,416,126 (GRCm39) A49E probably benign Het
Kifap3 A T 1: 163,623,558 (GRCm39) K108N probably damaging Het
Lama3 T A 18: 12,563,057 (GRCm39) F527I probably damaging Het
Layn A G 9: 50,988,352 (GRCm39) probably benign Het
Lims2 G T 18: 32,090,315 (GRCm39) W276L probably damaging Het
Lsp1 T C 7: 142,042,179 (GRCm39) L133S probably damaging Het
Map3k6 T G 4: 132,974,211 (GRCm39) V536G probably damaging Het
Med7 T A 11: 46,331,681 (GRCm39) L92H probably damaging Het
Mllt1 A G 17: 57,234,042 (GRCm39) V48A probably damaging Het
Mtcl2 T C 2: 156,860,290 (GRCm39) R1650G possibly damaging Het
Neurl4 T A 11: 69,801,088 (GRCm39) V1153E probably damaging Het
Nkx2-1 A C 12: 56,581,587 (GRCm39) C87G probably damaging Het
Nsun7 T C 5: 66,436,000 (GRCm39) S291P probably damaging Het
Or10n1 A T 9: 39,525,790 (GRCm39) Q309L probably benign Het
Or13a18 A T 7: 140,190,373 (GRCm39) N90I possibly damaging Het
Or1p1c A T 11: 74,160,550 (GRCm39) I112F probably damaging Het
Or4e1 G A 14: 52,700,945 (GRCm39) P174S probably damaging Het
Or7g17 T A 9: 18,768,632 (GRCm39) M237K probably benign Het
Pals1 G A 12: 78,844,006 (GRCm39) R70H probably damaging Het
Pbrm1 A G 14: 30,767,379 (GRCm39) Y331C possibly damaging Het
Pirb T A 7: 3,719,273 (GRCm39) T539S probably benign Het
Plch2 T G 4: 155,068,685 (GRCm39) T1314P probably benign Het
Polk T C 13: 96,644,728 (GRCm39) S133G probably benign Het
Pramel27 A G 4: 143,578,399 (GRCm39) I220V probably damaging Het
Prdm5 A T 6: 65,904,967 (GRCm39) K533* probably null Het
Prmt1 T A 7: 44,632,997 (GRCm39) Q35H probably benign Het
Pum3 A T 19: 27,401,625 (GRCm39) W142R probably damaging Het
Rest G A 5: 77,430,455 (GRCm39) R958H probably benign Het
Rictor C T 15: 6,798,782 (GRCm39) T343M probably damaging Het
Ripor2 G A 13: 24,855,886 (GRCm39) G109R probably damaging Het
Sec62 C T 3: 30,872,978 (GRCm39) Q354* probably null Het
Snx14 T C 9: 88,263,844 (GRCm39) Y847C probably damaging Het
Sox7 A T 14: 64,185,438 (GRCm39) D158V probably benign Het
Spag8 A G 4: 43,652,034 (GRCm39) V350A possibly damaging Het
Syngr1 A T 15: 79,995,934 (GRCm39) I158F probably damaging Het
Tacstd2 C A 6: 67,511,979 (GRCm39) V238L probably benign Het
Tex15 T C 8: 34,063,014 (GRCm39) S815P possibly damaging Het
Tmem117 A T 15: 94,612,793 (GRCm39) T110S possibly damaging Het
Tnrc6a T C 7: 122,770,718 (GRCm39) I836T probably benign Het
Trim30b C A 7: 104,006,569 (GRCm39) V96L probably benign Het
Tssk3 TGCTATCATGGGG TG 4: 129,383,106 (GRCm39) probably null Het
Tyk2 G T 9: 21,031,822 (GRCm39) H418N probably benign Het
Uap1 G T 1: 169,986,472 (GRCm39) T170K probably damaging Het
Vmn1r40 T C 6: 89,691,606 (GRCm39) V141A not run Het
Vmn1r54 T A 6: 90,246,647 (GRCm39) I187K probably damaging Het
Vmp1 C T 11: 86,492,859 (GRCm39) V317M probably damaging Het
Wnt8b A G 19: 44,500,511 (GRCm39) K366R probably benign Het
Zfp207 C T 11: 80,286,004 (GRCm39) P415L unknown Het
Zfp263 A G 16: 3,562,435 (GRCm39) E66G probably damaging Het
Zfp764l1 A G 7: 126,990,695 (GRCm39) S431P probably benign Het
Zfp985 T A 4: 147,667,913 (GRCm39) H260Q probably damaging Het
Zmiz1 GCC GC 14: 25,576,624 (GRCm39) probably null Het
Zmiz1 A G 14: 25,576,633 (GRCm39) R47G probably damaging Het
Zmiz1 A C 14: 25,576,631 (GRCm39) Q46P probably damaging Het
Other mutations in Dnajc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Dnajc2 APN 5 21,979,974 (GRCm39) missense possibly damaging 0.83
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
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
Predicted Primers PCR Primer
(F):5'- AACCTTGCTGTAGTGAAGCTC -3'
(R):5'- CAAATTTTATATGCCCCAGTACAGG -3'

Sequencing Primer
(F):5'- CTGTAGTGAAGCTCTGCAGAAACTAC -3'
(R):5'- CCAGTACAGGGGAATGCC -3'
Posted On 2019-06-26