Incidental Mutation 'IGL01655:Ddx21'
ID102939
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx21
Ensembl Gene ENSMUSG00000020075
Gene NameDEAD (Asp-Glu-Ala-Asp) box polypeptide 21
SynonymsD10Wsu42e, RH II/Gu, D10Ertd645e, RH-II/Gualpha
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01655
Quality Score
Status
Chromosome10
Chromosomal Location62580251-62602281 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 62587491 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 644 (I644T)
Ref Sequence ENSEMBL: ENSMUSP00000042691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045866]
PDB Structure
Gu_alpha_helicase [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000045866
AA Change: I644T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042691
Gene: ENSMUSG00000020075
AA Change: I644T

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 G A 3: 97,165,972 probably null Het
Aida T A 1: 183,313,683 Y104* probably null Het
Cd300lg T C 11: 102,047,075 S244P probably benign Het
Ces4a T A 8: 105,147,174 L425Q probably damaging Het
Chrnb3 T C 8: 27,394,174 V298A probably damaging Het
Cnot6 A C 11: 49,677,304 F486C probably damaging Het
Ctnna3 A G 10: 64,873,170 T663A probably benign Het
Cyp2j12 T A 4: 96,115,577 K267N possibly damaging Het
Dclre1a A T 19: 56,547,057 Y32N probably damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Ercc6l2 T A 13: 63,819,752 Y55* probably null Het
Esyt1 A G 10: 128,522,312 I183T possibly damaging Het
Exoc8 T C 8: 124,896,228 T467A probably benign Het
Fance T C 17: 28,322,779 probably benign Het
Fbxo46 C T 7: 19,136,310 R285W probably damaging Het
Ffar2 A T 7: 30,819,587 V176E probably damaging Het
Fnbp1l T C 3: 122,568,749 probably null Het
Gm10288 T C 3: 146,838,810 noncoding transcript Het
Gm12588 T A 11: 121,907,951 Het
Gm9755 G A 8: 67,515,233 noncoding transcript Het
Gpr33 A T 12: 52,023,560 M232K probably damaging Het
Haus5 A T 7: 30,663,294 probably benign Het
Ilvbl A G 10: 78,577,333 probably benign Het
Kifap3 G A 1: 163,796,049 probably benign Het
Klhl26 T C 8: 70,451,883 Y378C probably damaging Het
Lama4 G A 10: 39,060,213 S628N probably benign Het
Lamc3 G A 2: 31,898,278 R150H probably damaging Het
Mrgprx2 A T 7: 48,482,691 C126* probably null Het
Myo3a A T 2: 22,423,326 D798V probably damaging Het
Ndufs1 A T 1: 63,151,557 L44Q probably damaging Het
Nfrkb G T 9: 31,403,459 R525L probably benign Het
Olfr1124 T A 2: 87,434,885 C133S probably damaging Het
Olfr1134 A G 2: 87,656,429 F164S probably damaging Het
Olfr1287 T C 2: 111,449,889 F250L probably benign Het
Olfr1370 T C 13: 21,072,905 Y132C probably damaging Het
Olfr146 T A 9: 39,018,918 I208F probably benign Het
Olfr394 T C 11: 73,887,927 I148M probably benign Het
Olfr458 T C 6: 42,460,540 T160A probably benign Het
Olfr735 A G 14: 50,346,184 M86T probably benign Het
Olfr824 G T 10: 130,126,991 T22K probably benign Het
Pias4 T C 10: 81,155,658 K352E probably benign Het
Pkhd1 G A 1: 20,534,633 Q1153* probably null Het
Pon1 C A 6: 5,175,760 W254C probably damaging Het
Prr14 A G 7: 127,475,767 T447A probably benign Het
Serpinb9g T A 13: 33,495,105 C319* probably null Het
Slc9c1 A T 16: 45,582,972 M801L probably benign Het
Tenm4 C T 7: 96,553,724 T182M probably damaging Het
Ubr4 T A 4: 139,407,796 L813Q probably damaging Het
Uimc1 T C 13: 55,028,704 E667G probably benign Het
Unc79 A G 12: 103,168,287 T2173A probably benign Het
Unkl T C 17: 25,210,848 S142P probably benign Het
Vezt A G 10: 93,996,997 V204A probably benign Het
Vps53 A T 11: 76,063,034 I402N probably damaging Het
Zfyve9 T C 4: 108,642,092 D1343G probably damaging Het
Other mutations in Ddx21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00709:Ddx21 APN 10 62598402 nonsense probably null
IGL01144:Ddx21 APN 10 62598550 missense unknown
IGL01694:Ddx21 APN 10 62598651 nonsense probably null
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
Posted On2014-01-21