Incidental Mutation 'R6614:Dnajc21'
ID 523874
Institutional Source Beutler Lab
Gene Symbol Dnajc21
Ensembl Gene ENSMUSG00000044224
Gene Name DnaJ heat shock protein family (Hsp40) member C21
Synonyms 4930461P20Rik, 9930116P15Rik
MMRRC Submission 044737-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # R6614 (G1)
Quality Score 89.0249
Status Not validated
Chromosome 15
Chromosomal Location 10446842-10470602 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 10470349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022855] [ENSMUST00000136591]
AlphaFold E9Q8D0
Predicted Effect probably benign
Transcript: ENSMUST00000022855
SMART Domains Protein: ENSMUSP00000022855
Gene: ENSMUSG00000022247

DomainStartEndE-ValueType
Brix 63 243 3.62e-58 SMART
Predicted Effect probably null
Transcript: ENSMUST00000136591
SMART Domains Protein: ENSMUSP00000116865
Gene: ENSMUSG00000044224

DomainStartEndE-ValueType
DnaJ 2 61 7.2e-29 SMART
coiled coil region 178 283 N/A INTRINSIC
ZnF_U1 311 345 5.3e-8 SMART
ZnF_C2H2 314 338 1.67e-2 SMART
low complexity region 379 393 N/A INTRINSIC
low complexity region 452 470 N/A INTRINSIC
ZnF_C2H2 483 507 5.34e0 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.3%
Validation Efficiency 98% (46/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the precursor 45S ribosomal RNA and may be involved in early nuclear ribosomal RNA biogenesis and maturation of the 60S ribosomal subunit. Mutations in this gene result in Bone marrow failure syndrome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik T A 8: 125,587,986 (GRCm39) probably null Het
Abca13 A T 11: 9,244,371 (GRCm39) N2078I probably benign Het
Abcc2 A G 19: 43,807,800 (GRCm39) I814V probably benign Het
Adamts4 A G 1: 171,084,193 (GRCm39) R557G probably benign Het
Bltp3a T A 17: 28,095,899 (GRCm39) I70N probably benign Het
Bysl A T 17: 47,912,767 (GRCm39) L341Q probably damaging Het
Csmd1 C T 8: 17,266,803 (GRCm39) G41D probably damaging Het
Dnah11 T C 12: 117,850,411 (GRCm39) D4221G possibly damaging Het
Dnah7c C A 1: 46,688,500 (GRCm39) T1890K probably benign Het
Dnah7c A G 1: 46,688,511 (GRCm39) S1894G probably benign Het
Elavl1 C A 8: 4,339,818 (GRCm39) A255S probably damaging Het
Filip1 C T 9: 79,723,121 (GRCm39) G1166D probably damaging Het
Gnptg T C 17: 25,454,235 (GRCm39) Y184C probably damaging Het
Ifit3b A T 19: 34,588,919 (GRCm39) S32C probably benign Het
Kcnh7 T G 2: 62,607,940 (GRCm39) Y547S probably damaging Het
Lima1 G A 15: 99,681,461 (GRCm39) A243V probably damaging Het
Mast3 T A 8: 71,234,610 (GRCm39) I67F possibly damaging Het
Ncor1 A C 11: 62,221,645 (GRCm39) M1283R probably benign Het
Ndufv1 G A 19: 4,058,749 (GRCm39) T253I probably benign Het
Neurog1 G T 13: 56,399,637 (GRCm39) Q37K probably benign Het
Nol4 T G 18: 23,053,913 (GRCm39) K200Q probably damaging Het
Obscn T C 11: 58,903,627 (GRCm39) H7599R probably benign Het
Oog4 A G 4: 143,164,445 (GRCm39) V362A possibly damaging Het
Oosp1 T A 19: 11,668,314 (GRCm39) D23V probably damaging Het
Or11a4 T C 17: 37,536,790 (GRCm39) V258A probably benign Het
Or11g24 C T 14: 50,662,546 (GRCm39) T190I probably benign Het
Or4k1 T A 14: 50,377,821 (GRCm39) I92F probably damaging Het
Or4n4b T A 14: 50,536,494 (GRCm39) I91L probably benign Het
Or7a41 C A 10: 78,870,925 (GRCm39) C98* probably null Het
P2rx3 A G 2: 84,865,543 (GRCm39) I34T probably damaging Het
Pate7 A G 9: 35,688,421 (GRCm39) W55R probably damaging Het
Pla2g4a A T 1: 149,717,986 (GRCm39) V621E probably benign Het
Prpf39 T G 12: 65,089,337 (GRCm39) V25G probably benign Het
Psd T C 19: 46,301,851 (GRCm39) K913E probably benign Het
Ptx4 A T 17: 25,341,676 (GRCm39) R50S possibly damaging Het
Rex2 A T 4: 147,137,018 (GRCm39) M16L probably benign Het
Serac1 A T 17: 6,095,937 (GRCm39) V604E probably damaging Het
Sp140l2 A C 1: 85,179,781 (GRCm39) probably null Het
Spata31h1 T A 10: 82,127,482 (GRCm39) N1843Y probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Stxbp6 T A 12: 44,908,058 (GRCm39) T187S probably benign Het
Tg G A 15: 66,607,108 (GRCm39) C215Y probably damaging Het
Top2b A T 14: 16,407,142 (GRCm38) K671* probably null Het
Trmt1 G T 8: 85,415,962 (GRCm39) V7L probably benign Het
Ttn C T 2: 76,615,174 (GRCm39) R15102H probably benign Het
Unc79 A T 12: 102,957,689 (GRCm39) I35F probably damaging Het
Other mutations in Dnajc21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01321:Dnajc21 APN 15 10,447,188 (GRCm39) missense probably benign 0.01
IGL02797:Dnajc21 APN 15 10,461,441 (GRCm39) missense probably damaging 0.96
R0032:Dnajc21 UTSW 15 10,461,963 (GRCm39) missense probably benign 0.32
R0032:Dnajc21 UTSW 15 10,461,963 (GRCm39) missense probably benign 0.32
R1480:Dnajc21 UTSW 15 10,460,037 (GRCm39) splice site probably null
R1694:Dnajc21 UTSW 15 10,451,649 (GRCm39) missense probably benign 0.00
R1777:Dnajc21 UTSW 15 10,449,693 (GRCm39) missense probably benign 0.00
R2420:Dnajc21 UTSW 15 10,462,021 (GRCm39) missense probably benign 0.00
R2421:Dnajc21 UTSW 15 10,462,021 (GRCm39) missense probably benign 0.00
R2422:Dnajc21 UTSW 15 10,462,021 (GRCm39) missense probably benign 0.00
R4065:Dnajc21 UTSW 15 10,451,639 (GRCm39) critical splice donor site probably null
R4182:Dnajc21 UTSW 15 10,460,019 (GRCm39) splice site probably null
R4546:Dnajc21 UTSW 15 10,447,183 (GRCm39) missense probably benign 0.01
R4644:Dnajc21 UTSW 15 10,464,003 (GRCm39) missense possibly damaging 0.89
R4939:Dnajc21 UTSW 15 10,449,683 (GRCm39) missense probably damaging 0.96
R5075:Dnajc21 UTSW 15 10,461,963 (GRCm39) missense probably benign 0.32
R5187:Dnajc21 UTSW 15 10,464,050 (GRCm39) missense probably benign 0.21
R5273:Dnajc21 UTSW 15 10,454,893 (GRCm39) missense probably damaging 1.00
R5590:Dnajc21 UTSW 15 10,462,363 (GRCm39) missense possibly damaging 0.92
R5643:Dnajc21 UTSW 15 10,462,001 (GRCm39) missense probably benign
R5644:Dnajc21 UTSW 15 10,462,001 (GRCm39) missense probably benign
R5729:Dnajc21 UTSW 15 10,449,682 (GRCm39) missense probably benign 0.01
R6815:Dnajc21 UTSW 15 10,447,777 (GRCm39) splice site probably null
R7016:Dnajc21 UTSW 15 10,461,493 (GRCm39) nonsense probably null
R7076:Dnajc21 UTSW 15 10,449,717 (GRCm39) missense probably benign
R7584:Dnajc21 UTSW 15 10,462,381 (GRCm39) nonsense probably null
R7624:Dnajc21 UTSW 15 10,461,320 (GRCm39) missense probably damaging 0.98
R7624:Dnajc21 UTSW 15 10,461,318 (GRCm39) missense probably benign 0.07
R7676:Dnajc21 UTSW 15 10,462,430 (GRCm39) missense possibly damaging 0.95
R7788:Dnajc21 UTSW 15 10,460,133 (GRCm39) missense probably damaging 1.00
R7845:Dnajc21 UTSW 15 10,447,227 (GRCm39) missense probably damaging 1.00
R8552:Dnajc21 UTSW 15 10,464,005 (GRCm39) nonsense probably null
R9174:Dnajc21 UTSW 15 10,462,076 (GRCm39) nonsense probably null
R9416:Dnajc21 UTSW 15 10,462,048 (GRCm39) missense possibly damaging 0.82
R9566:Dnajc21 UTSW 15 10,464,019 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- GCCTGTTTAAAAGCCTGTCCCC -3'
(R):5'- TCACAATGACTCTCGGCGTG -3'

Sequencing Primer
(F):5'- TCCCCTCGGCGGTGCGGGCAgggccc -3'
(R):5'- GAGAGGACAGCCAGCGC -3'
Posted On 2018-06-22