Incidental Mutation 'R4939:Dnajc21'
ID 382951
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 042538-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # R4939 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 10446842-10470602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 10449683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 446 (D446V)
Ref Sequence ENSEMBL: ENSMUSP00000116865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000136591]
AlphaFold E9Q8D0
Predicted Effect probably damaging
Transcript: ENSMUST00000136591
AA Change: D446V

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116865
Gene: ENSMUSG00000044224
AA Change: D446V

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: ENSMUST00000147224
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150878
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,161,962 (GRCm39) Y365F possibly damaging Het
Atp2a1 T C 7: 126,049,288 (GRCm39) M585V probably benign Het
Brca1 A G 11: 101,398,876 (GRCm39) V1572A probably benign Het
C1ql4 A T 15: 98,985,521 (GRCm39) M30K probably damaging Het
Ccdc73 A G 2: 104,822,502 (GRCm39) probably null Het
Cdk6 A T 5: 3,394,377 (GRCm39) D4V probably null Het
Celf3 ACAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCA 3: 94,395,537 (GRCm39) probably benign Het
Clic4 T C 4: 134,950,852 (GRCm39) E113G probably benign Het
Creld1 C A 6: 113,465,140 (GRCm39) H122Q probably benign Het
Cyp4a29 G A 4: 115,104,873 (GRCm39) probably null Het
Dnaaf3 A T 7: 4,530,144 (GRCm39) S246R probably damaging Het
Dnah12 A T 14: 26,613,481 (GRCm39) T3925S probably damaging Het
Dock8 A T 19: 25,099,764 (GRCm39) Y629F probably damaging Het
Duxf4 T C 10: 58,071,425 (GRCm39) N263S probably benign Het
E2f8 A T 7: 48,521,886 (GRCm39) N405K probably benign Het
Flg A G 3: 93,187,154 (GRCm39) N202S probably benign Het
Glyatl3 A G 17: 41,220,914 (GRCm39) probably null Het
Gm38999 A G 7: 43,077,885 (GRCm39) T63A possibly damaging Het
Grap A G 11: 61,551,124 (GRCm39) Y52C probably damaging Het
Haus2 T A 2: 120,449,517 (GRCm39) I187K probably damaging Het
Heatr5b T C 17: 79,069,689 (GRCm39) E1686G probably benign Het
Herc2 A G 7: 55,856,484 (GRCm39) D3944G probably damaging Het
Hexd A T 11: 121,098,542 (GRCm39) M9L probably benign Het
Hoxa3 T C 6: 52,147,656 (GRCm39) probably benign Het
Hspg2 A T 4: 137,235,342 (GRCm39) I126F probably damaging Het
Itpr1 T A 6: 108,417,519 (GRCm39) C123* probably null Het
Jmjd1c T A 10: 67,081,916 (GRCm39) N2346K possibly damaging Het
Kctd9 A G 14: 67,967,135 (GRCm39) Y37C probably damaging Het
Kmt5b A C 19: 3,865,245 (GRCm39) S747R possibly damaging Het
Krt26 T C 11: 99,225,522 (GRCm39) M320V probably benign Het
Lama1 T G 17: 68,044,470 (GRCm39) V123G possibly damaging Het
Lamc2 T C 1: 153,002,582 (GRCm39) D1103G probably damaging Het
Lepr A T 4: 101,590,635 (GRCm39) K71I possibly damaging Het
Llgl1 A T 11: 60,600,805 (GRCm39) probably null Het
Mcoln2 A T 3: 145,897,996 (GRCm39) H39L probably benign Het
Mtrex T C 13: 113,046,426 (GRCm39) D308G possibly damaging Het
Myh11 T A 16: 14,057,371 (GRCm39) T315S probably benign Het
Ncapd3 T C 9: 26,975,165 (GRCm39) probably null Het
Nlrp9b G T 7: 19,758,421 (GRCm39) V553F probably damaging Het
Nubpl A G 12: 52,227,878 (GRCm39) N129S probably damaging Het
Nup214 C A 2: 31,873,171 (GRCm39) T255K probably benign Het
Or10j3 T C 1: 173,031,030 (GRCm39) Y36H possibly damaging Het
Or2t46 G T 11: 58,472,037 (GRCm39) M122I probably damaging Het
Or2y17 A G 11: 49,231,376 (GRCm39) T6A probably benign Het
Or4d1 G T 11: 87,804,950 (GRCm39) P261T probably damaging Het
Or52z14 T C 7: 103,253,458 (GRCm39) V199A probably benign Het
Or5b3 T A 19: 13,388,219 (GRCm39) N95K probably benign Het
Orc3 G A 4: 34,593,126 (GRCm39) Q256* probably null Het
Pbrm1 A G 14: 30,783,580 (GRCm39) M566V probably damaging Het
Pde6b A G 5: 108,569,363 (GRCm39) I357V probably benign Het
Pkdrej A G 15: 85,704,484 (GRCm39) I484T possibly damaging Het
Plvap A G 8: 71,964,083 (GRCm39) V93A probably benign Het
Plxna4 T C 6: 32,142,697 (GRCm39) Y1586C probably damaging Het
Ppfia4 A T 1: 134,255,817 (GRCm39) L196Q possibly damaging Het
Ptpn13 T G 5: 103,665,335 (GRCm39) probably null Het
Ranbp17 T C 11: 33,169,223 (GRCm39) N997S probably benign Het
Rpap2 G T 5: 107,751,491 (GRCm39) probably null Het
Rrm1 T C 7: 102,116,131 (GRCm39) V683A probably benign Het
Ruvbl1 A G 6: 88,460,021 (GRCm39) probably null Het
Sh3pxd2a A G 19: 47,266,843 (GRCm39) Y277H probably damaging Het
Shank1 C T 7: 43,975,586 (GRCm39) P477S unknown Het
Shtn1 T C 19: 59,010,633 (GRCm39) E278G probably benign Het
Skap2 T A 6: 51,899,303 (GRCm39) I109F possibly damaging Het
Slc28a3 A C 13: 58,706,395 (GRCm39) I615M probably benign Het
Slc4a11 A G 2: 130,526,788 (GRCm39) L780P probably damaging Het
Slc5a4b T C 10: 75,917,301 (GRCm39) E245G probably benign Het
Slfn8 C T 11: 82,894,111 (GRCm39) A843T probably benign Het
Sncaip A T 18: 53,040,335 (GRCm39) Q843L possibly damaging Het
Spidr T A 16: 15,958,610 (GRCm39) K51* probably null Het
Spopfm2 A T 3: 94,083,540 (GRCm39) Y90* probably null Het
Tas2r123 T C 6: 132,824,808 (GRCm39) V235A probably benign Het
Tgfbr3 T C 5: 107,278,335 (GRCm39) D757G probably benign Het
Tmem132d A T 5: 127,873,139 (GRCm39) V490D probably damaging Het
Top2a T A 11: 98,900,918 (GRCm39) H557L probably damaging Het
Trafd1 A G 5: 121,513,254 (GRCm39) I328T probably benign Het
Trappc11 G A 8: 47,972,700 (GRCm39) A291V probably damaging Het
Tuba1c A G 15: 98,935,835 (GRCm39) Y432C probably damaging Het
Utp11 T G 4: 124,577,043 (GRCm39) R109S possibly damaging Het
Vmn1r159 T G 7: 22,542,316 (GRCm39) T239P probably damaging Het
Vwce A T 19: 10,622,414 (GRCm39) N239Y probably damaging Het
Yes1 T C 5: 32,802,457 (GRCm39) probably null Het
Zfand6 A C 7: 84,265,030 (GRCm39) *224G probably null Het
Zfp408 A T 2: 91,475,450 (GRCm39) I668N probably damaging Het
Zfp647 TGCACG TGCACGCACG 15: 76,795,244 (GRCm39) probably null Het
Zfp946 T C 17: 22,674,418 (GRCm39) F391L 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
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'- GCACAATGTCACCTCACATCT -3'
(R):5'- TCTCATTCCACATATTGACTTACCA -3'

Sequencing Primer
(F):5'- CATCTGTGTGTGATTGTGTGGCTAC -3'
(R):5'- GAGGAAAGATTGCTCCAGAA -3'
Posted On 2016-04-27