Incidental Mutation 'IGL01694:Ddx21'
ID 104200
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx21
Ensembl Gene ENSMUSG00000020075
Gene Name DEAD (Asp-Glu-Ala-Asp) box polypeptide 21
Synonyms D10Wsu42e, RH II/Gu, D10Ertd645e, RH-II/Gualpha
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01694
Quality Score
Status
Chromosome 10
Chromosomal Location 62580251-62602281 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 62598651 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 110 (K110*)
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
AA Change: K110*
SMART Domains Protein: ENSMUSP00000042691
Gene: ENSMUSG00000020075
AA Change: K110*

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: ENSMUST00000218594
Coding Region Coverage
Validation Efficiency
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
4930474N05Rik A G 14: 36,096,702 *219W probably null Het
Abi1 G A 2: 22,960,713 T238M probably damaging Het
Agbl2 C T 2: 90,801,074 L259F probably damaging Het
Cacna1g T A 11: 94,429,112 I1413F probably damaging Het
Dnm1l A T 16: 16,316,651 I463N probably benign Het
Dst C A 1: 34,188,160 H1286Q probably benign Het
Elmo2 A T 2: 165,314,773 N67K probably benign Het
Eps8l3 G A 3: 107,892,308 C578Y probably damaging Het
Fam83b T A 9: 76,490,990 I944F probably benign Het
Itga10 A T 3: 96,652,517 D496V probably damaging Het
Lama2 T G 10: 27,006,742 K2608N possibly damaging Het
Lap3 T A 5: 45,498,595 probably null Het
Madd T C 2: 91,157,975 probably benign Het
Mdh1b T A 1: 63,711,106 probably benign Het
Ncapg2 G A 12: 116,407,230 probably benign Het
Olfr1509 A G 14: 52,450,584 N57S probably benign Het
Opalin A G 19: 41,063,800 probably benign Het
Plxna3 T A X: 74,338,508 D1291E probably damaging Het
Prss40 T A 1: 34,556,097 I101F probably benign Het
Rpl5 T C 5: 107,907,240 Y253H probably benign Het
Sephs2 A G 7: 127,273,087 I278T probably benign Het
Slc25a34 G A 4: 141,622,253 A197V probably benign Het
Slco6d1 C T 1: 98,499,845 R634W probably damaging Het
Smarca4 C A 9: 21,665,870 A871D probably damaging Het
Speer2 C T 16: 69,858,112 S155N probably damaging Het
Speer2 T A 16: 69,858,113 S155C probably damaging Het
Spink12 T A 18: 44,107,760 V71E probably damaging Het
Tecta T C 9: 42,367,179 D1011G possibly damaging Het
Tmtc4 G A 14: 122,973,212 T78I possibly damaging Het
Tub T C 7: 109,021,036 probably benign Het
Vps13c T A 9: 67,895,349 V644D probably damaging Het
Zfp7 C T 15: 76,890,795 Q346* probably null Het
Other mutations in Ddx21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00709:Ddx21 APN 10 62598402 nonsense probably null
IGL01144:Ddx21 APN 10 62598550 missense unknown
IGL01655:Ddx21 APN 10 62587491 missense probably damaging 0.98
IGL01752:Ddx21 APN 10 62587507 missense probably damaging 1.00
IGL02827:Ddx21 APN 10 62598374 missense probably benign 0.04
IGL03140:Ddx21 APN 10 62594071 missense probably damaging 1.00
IGL03248:Ddx21 APN 10 62591990 missense possibly damaging 0.87
R0131:Ddx21 UTSW 10 62584752 missense possibly damaging 0.96
R0555:Ddx21 UTSW 10 62587528 missense probably damaging 1.00
R1437:Ddx21 UTSW 10 62598590 missense unknown
R1780:Ddx21 UTSW 10 62594147 splice site probably benign
R1875:Ddx21 UTSW 10 62594068 missense probably damaging 1.00
R2696:Ddx21 UTSW 10 62594092 missense possibly damaging 0.93
R4639:Ddx21 UTSW 10 62591837 nonsense probably null
R4678:Ddx21 UTSW 10 62594003 missense probably benign 0.06
R4767:Ddx21 UTSW 10 62591972 missense probably damaging 1.00
R4799:Ddx21 UTSW 10 62588121 missense probably damaging 0.98
R5145:Ddx21 UTSW 10 62587539 critical splice acceptor site probably null
R5243:Ddx21 UTSW 10 62602213 start codon destroyed probably null 0.02
R6085:Ddx21 UTSW 10 62594087 missense probably damaging 1.00
R6701:Ddx21 UTSW 10 62590691 missense probably damaging 1.00
R7134:Ddx21 UTSW 10 62591855 missense possibly damaging 0.95
R7517:Ddx21 UTSW 10 62588790 missense probably damaging 0.98
R7555:Ddx21 UTSW 10 62598243 missense probably benign 0.03
R7577:Ddx21 UTSW 10 62590670 missense probably benign 0.19
R7704:Ddx21 UTSW 10 62594086 missense probably damaging 1.00
R8902:Ddx21 UTSW 10 62598707 missense probably benign 0.01
R9126:Ddx21 UTSW 10 62588700 missense probably damaging 1.00
R9344:Ddx21 UTSW 10 62593046 missense possibly damaging 0.66
R9412:Ddx21 UTSW 10 62594102 missense possibly damaging 0.94
R9480:Ddx21 UTSW 10 62598873 missense probably benign
Z1177:Ddx21 UTSW 10 62587538 critical splice acceptor site probably null
Posted On 2014-01-21