Incidental Mutation 'R4546:Dnajc21'
ID 333790
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 041780-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # R4546 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 10446842-10470602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10447183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 522 (R522G)
Ref Sequence ENSEMBL: ENSMUSP00000116865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000136591]
AlphaFold E9Q8D0
Predicted Effect probably benign
Transcript: ENSMUST00000136591
AA Change: R522G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000116865
Gene: ENSMUSG00000044224
AA Change: R522G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145719
SMART Domains Protein: ENSMUSP00000116192
Gene: ENSMUSG00000044224

DomainStartEndE-ValueType
coiled coil region 26 131 N/A INTRINSIC
ZnF_U1 160 194 5.3e-8 SMART
ZnF_C2H2 163 187 1.67e-2 SMART
low complexity region 228 242 N/A INTRINSIC
low complexity region 301 319 N/A INTRINSIC
ZnF_C2H2 332 356 5.34e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150878
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (65/67)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik G A 14: 70,393,927 (GRCm39) S236L probably benign Het
Ahcyl C T 16: 45,974,330 (GRCm39) C349Y possibly damaging Het
Alg9 C T 9: 50,716,654 (GRCm39) T409M possibly damaging Het
Alpi T A 1: 87,026,839 (GRCm39) Y413F probably damaging Het
Asmt T C X: 169,110,230 (GRCm39) probably null Het
Atf7 A G 15: 102,442,762 (GRCm39) V449A probably benign Het
Bnc2 A G 4: 84,210,213 (GRCm39) F744L probably benign Het
Ccnyl1 G T 1: 64,762,735 (GRCm39) M347I probably benign Het
Cdk13 T C 13: 17,941,159 (GRCm39) K21R probably damaging Het
Cenpf A C 1: 189,386,847 (GRCm39) L1811R probably damaging Het
Cfap91 C T 16: 38,155,885 (GRCm39) V113I probably benign Het
Cr2 A G 1: 194,853,349 (GRCm39) I43T possibly damaging Het
Cspg4 T A 9: 56,795,913 (GRCm39) L1216Q possibly damaging Het
Cylc2 A T 4: 51,229,840 (GRCm39) D394V unknown Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Dcaf8 T C 1: 172,007,460 (GRCm39) probably benign Het
Dlec1 A T 9: 118,957,146 (GRCm39) I796F probably damaging Het
Dnah12 A T 14: 26,494,971 (GRCm39) Q1343L probably damaging Het
F2rl3 C T 8: 73,489,211 (GRCm39) A146V probably benign Het
Fastkd1 C T 2: 69,542,655 (GRCm39) E51K probably damaging Het
Glrb T C 3: 80,786,993 (GRCm39) S57G probably damaging Het
Gm5507 T A 18: 54,117,409 (GRCm39) noncoding transcript Het
Golga4 A G 9: 118,385,913 (GRCm39) K22E probably damaging Het
Hdac1-ps A T 17: 78,800,388 (GRCm39) T460S probably benign Het
Ift122 T A 6: 115,867,549 (GRCm39) L433Q probably damaging Het
Il21r A G 7: 125,228,071 (GRCm39) R181G probably damaging Het
Il5ra G T 6: 106,715,459 (GRCm39) S125* probably null Het
Kdm7a T C 6: 39,152,406 (GRCm39) R97G probably benign Het
Lepr T A 4: 101,671,838 (GRCm39) I954N probably benign Het
Lims1 T C 10: 58,254,612 (GRCm39) probably benign Het
Mest T C 6: 30,740,679 (GRCm39) W13R probably damaging Het
Mfn2 A G 4: 147,971,909 (GRCm39) V224A probably benign Het
Muc15 T C 2: 110,567,844 (GRCm39) S330P probably damaging Het
Ncapg T C 5: 45,828,554 (GRCm39) F102L probably damaging Het
Nkd2 T C 13: 73,971,475 (GRCm39) D187G probably benign Het
Nphp1 C T 2: 127,607,939 (GRCm39) probably null Het
Or10ag59 T C 2: 87,405,530 (GRCm39) F34S probably benign Het
Or1e19 T C 11: 73,316,012 (GRCm39) N266D probably benign Het
Or2a12 C T 6: 42,904,348 (GRCm39) S61L probably damaging Het
Osbpl6 T C 2: 76,414,836 (GRCm39) V409A possibly damaging Het
Pdhx A T 2: 102,903,742 (GRCm39) L18Q probably null Het
Pear1 C T 3: 87,661,968 (GRCm39) G469D probably damaging Het
Plec T C 15: 76,065,757 (GRCm39) T1506A probably benign Het
Plod3 T A 5: 137,017,801 (GRCm39) D192E possibly damaging Het
Rbks T C 5: 31,781,912 (GRCm39) N296S probably benign Het
Sema3c G A 5: 17,899,770 (GRCm39) V421I probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Slc7a8 C G 14: 54,973,247 (GRCm39) G240A possibly damaging Het
Tmem200c A G 17: 69,149,166 (GRCm39) D583G probably benign Het
Trpm6 A G 19: 18,809,841 (GRCm39) Y1079C probably damaging Het
Ttn T C 2: 76,652,932 (GRCm39) probably null Het
Vcp T C 4: 42,988,813 (GRCm39) probably benign Het
Vmn2r78 T C 7: 86,603,811 (GRCm39) V663A probably damaging Het
Vmn2r9 T G 5: 108,995,551 (GRCm39) M366L probably benign Het
Wdr11 A G 7: 129,230,729 (GRCm39) E878G probably damaging Het
Zan C G 5: 137,382,096 (GRCm39) M5150I unknown 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
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
R6614:Dnajc21 UTSW 15 10,470,349 (GRCm39) critical splice donor site probably null
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'- CTGTTCACATGAGAAATCCAGATAC -3'
(R):5'- AGCTTACCCTGTGCTCTGATG -3'

Sequencing Primer
(F):5'- ACATTCAAGTGAATTCAGATGGC -3'
(R):5'- ACCCTGTGCTCTGATGTCCTC -3'
Posted On 2015-08-18