Incidental Mutation 'R5145:Ddx21'
ID 395087
Institutional Source Beutler Lab
Gene Symbol Ddx21
Ensembl Gene ENSMUSG00000020075
Gene Name DExD box helicase 21
Synonyms RH II/Gu, D10Wsu42e, RH-II/Gualpha, DEAD (Asp-Glu-Ala-Asp) box polypeptide 21, D10Ertd645e
MMRRC Submission 042729-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5145 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 62416030-62438060 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 62423318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000042691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045866]
AlphaFold Q9JIK5
PDB Structure Gu_alpha_helicase [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000045866
SMART Domains Protein: ENSMUSP00000042691
Gene: ENSMUSG00000020075

DomainStartEndE-ValueType
low complexity region 24 45 N/A INTRINSIC
low complexity region 87 98 N/A INTRINSIC
low complexity region 107 139 N/A INTRINSIC
internal_repeat_1 140 160 2.96e-8 PROSPERO
low complexity region 162 171 N/A INTRINSIC
low complexity region 199 208 N/A INTRINSIC
internal_repeat_1 214 234 2.96e-8 PROSPERO
DEXDc 277 484 2.76e-56 SMART
HELICc 524 604 1.55e-27 SMART
low complexity region 682 688 N/A INTRINSIC
Pfam:GUCT 692 787 1.6e-33 PFAM
low complexity region 827 843 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218393
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220060
Meta Mutation Damage Score 0.9595 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (37/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an antigen recognized by autoimmune antibodies from a patient with watermelon stomach disease. This protein unwinds double-stranded RNA, folds single-stranded RNA, and may play important roles in ribosomal RNA biogenesis, RNA editing, RNA transport, and general transcription. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 G A 15: 11,285,962 (GRCm39) G724R probably damaging Het
Adgrg7 T A 16: 56,562,682 (GRCm39) I552L probably benign Het
Ankrd11 A G 8: 123,617,943 (GRCm39) probably benign Het
Col12a1 T C 9: 79,613,582 (GRCm39) T88A probably benign Het
Col6a5 T G 9: 105,811,444 (GRCm39) I692L unknown Het
Cry2 T C 2: 92,243,405 (GRCm39) I479V probably benign Het
Efcab12 T A 6: 115,800,238 (GRCm39) I262F probably damaging Het
Eif2ak2 T C 17: 79,183,633 (GRCm39) D72G possibly damaging Het
Fry T C 5: 150,293,689 (GRCm39) F461L probably damaging Het
Gm38706 G A 6: 130,460,731 (GRCm39) noncoding transcript Het
Gm9772 C T 17: 22,226,107 (GRCm39) C59Y probably damaging Het
Meig1 T C 2: 3,410,263 (GRCm39) E79G probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Mfsd2b T A 12: 4,915,908 (GRCm39) probably benign Het
Nfatc2 A C 2: 168,431,987 (GRCm39) I42S probably benign Het
Nlgn3 G A X: 100,361,891 (GRCm39) V287I probably benign Het
Npy6r C T 18: 44,409,686 (GRCm39) T369I probably benign Het
Or7a36 A G 10: 78,820,143 (GRCm39) E173G probably benign Het
Ptprb A G 10: 116,179,820 (GRCm39) T1413A probably benign Het
Ptprc A G 1: 138,017,304 (GRCm39) S624P probably benign Het
Pum3 A G 19: 27,377,169 (GRCm39) V441A probably damaging Het
Ranbp2 T A 10: 58,315,860 (GRCm39) D2193E probably damaging Het
Rbl1 A T 2: 157,017,397 (GRCm39) probably benign Het
Rnf167 T C 11: 70,540,906 (GRCm39) probably benign Het
Sdr9c7 T C 10: 127,738,259 (GRCm39) V179A probably damaging Het
Sema3c A G 5: 17,932,615 (GRCm39) N706S possibly damaging Het
Stt3a T C 9: 36,646,762 (GRCm39) Y617C probably damaging Het
Tdrd6 T A 17: 43,936,966 (GRCm39) S1361C probably damaging Het
Tha1 A C 11: 117,760,502 (GRCm39) S241A probably damaging Het
Tti1 G A 2: 157,850,432 (GRCm39) A269V probably benign Het
Ugt2a1 A G 5: 87,633,886 (GRCm39) probably null Het
Vmn2r10 T C 5: 109,143,761 (GRCm39) T730A possibly damaging Het
Other mutations in Ddx21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00709:Ddx21 APN 10 62,434,181 (GRCm39) nonsense probably null
IGL01144:Ddx21 APN 10 62,434,329 (GRCm39) missense unknown
IGL01655:Ddx21 APN 10 62,423,270 (GRCm39) missense probably damaging 0.98
IGL01694:Ddx21 APN 10 62,434,430 (GRCm39) nonsense probably null
IGL01752:Ddx21 APN 10 62,423,286 (GRCm39) missense probably damaging 1.00
IGL02827:Ddx21 APN 10 62,434,153 (GRCm39) missense probably benign 0.04
IGL03140:Ddx21 APN 10 62,429,850 (GRCm39) missense probably damaging 1.00
IGL03248:Ddx21 APN 10 62,427,769 (GRCm39) missense possibly damaging 0.87
R0131:Ddx21 UTSW 10 62,420,531 (GRCm39) missense possibly damaging 0.96
R0555:Ddx21 UTSW 10 62,423,307 (GRCm39) missense probably damaging 1.00
R1437:Ddx21 UTSW 10 62,434,369 (GRCm39) missense unknown
R1780:Ddx21 UTSW 10 62,429,926 (GRCm39) splice site probably benign
R1875:Ddx21 UTSW 10 62,429,847 (GRCm39) missense probably damaging 1.00
R2696:Ddx21 UTSW 10 62,429,871 (GRCm39) missense possibly damaging 0.93
R4639:Ddx21 UTSW 10 62,427,616 (GRCm39) nonsense probably null
R4678:Ddx21 UTSW 10 62,429,782 (GRCm39) missense probably benign 0.06
R4767:Ddx21 UTSW 10 62,427,751 (GRCm39) missense probably damaging 1.00
R4799:Ddx21 UTSW 10 62,423,900 (GRCm39) missense probably damaging 0.98
R5243:Ddx21 UTSW 10 62,437,992 (GRCm39) start codon destroyed probably null 0.02
R6085:Ddx21 UTSW 10 62,429,866 (GRCm39) missense probably damaging 1.00
R6701:Ddx21 UTSW 10 62,426,470 (GRCm39) missense probably damaging 1.00
R7134:Ddx21 UTSW 10 62,427,634 (GRCm39) missense possibly damaging 0.95
R7517:Ddx21 UTSW 10 62,424,569 (GRCm39) missense probably damaging 0.98
R7555:Ddx21 UTSW 10 62,434,022 (GRCm39) missense probably benign 0.03
R7577:Ddx21 UTSW 10 62,426,449 (GRCm39) missense probably benign 0.19
R7704:Ddx21 UTSW 10 62,429,865 (GRCm39) missense probably damaging 1.00
R8902:Ddx21 UTSW 10 62,434,486 (GRCm39) missense probably benign 0.01
R9126:Ddx21 UTSW 10 62,424,479 (GRCm39) missense probably damaging 1.00
R9344:Ddx21 UTSW 10 62,428,825 (GRCm39) missense possibly damaging 0.66
R9412:Ddx21 UTSW 10 62,429,881 (GRCm39) missense possibly damaging 0.94
R9480:Ddx21 UTSW 10 62,434,652 (GRCm39) missense probably benign
Z1177:Ddx21 UTSW 10 62,423,317 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AACGAACTTCCTACTAAATCTTGGG -3'
(R):5'- AATCTCCCATTGTGGCTCAC -3'

Sequencing Primer
(F):5'- GGGTGATCATAGTTATCAGCCACC -3'
(R):5'- ATTGTGGCTCACCCTCAGC -3'
Posted On 2016-06-21