Incidental Mutation 'R7577:Ddx21'
ID 586520
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 045662-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7577 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 62416030-62438060 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62426449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 468 (Q468R)
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 benign
Transcript: ENSMUST00000045866
AA Change: Q468R

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000042691
Gene: ENSMUSG00000020075
AA Change: Q468R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik C T 10: 78,902,325 (GRCm39) V664M possibly damaging Het
Abca4 A G 3: 121,967,663 (GRCm39) T2238A probably damaging Het
Adss2 G A 1: 177,595,263 (GRCm39) Q426* probably null Het
Afap1l2 T C 19: 56,933,199 (GRCm39) E71G probably damaging Het
Afg1l T C 10: 42,194,607 (GRCm39) D395G probably damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Alms1 A G 6: 85,592,302 (GRCm39) T385A probably benign Het
Ank3 C T 10: 69,828,402 (GRCm39) T2357I Het
Ankfn1 T A 11: 89,394,797 (GRCm39) S263C probably benign Het
Atpsckmt C T 15: 31,606,186 (GRCm39) A48V probably damaging Het
Azin1 C T 15: 38,501,665 (GRCm39) V29I probably benign Het
B3galt2 T C 1: 143,523,042 (GRCm39) Y393H probably damaging Het
Cnbd2 G T 2: 156,170,296 (GRCm39) R127L possibly damaging Het
Col6a5 A T 9: 105,741,887 (GRCm39) L2344* probably null Het
Csn3 T C 5: 88,077,821 (GRCm39) V109A not run Het
Cxcr2 C G 1: 74,198,074 (GRCm39) N189K probably benign Het
Dclre1a A G 19: 56,517,965 (GRCm39) F1038S probably damaging Het
Dlx6 A G 6: 6,863,423 (GRCm39) D15G probably damaging Het
Dnajb14 T C 3: 137,610,558 (GRCm39) V262A possibly damaging Het
Dpp7 A G 2: 25,245,603 (GRCm39) V161A probably benign Het
Enkur C T 2: 21,209,913 (GRCm39) S16N probably benign Het
Ensa C A 3: 95,535,956 (GRCm39) H96Q probably damaging Het
Ero1b T G 13: 12,617,254 (GRCm39) C393G probably damaging Het
Fbxo3 T C 2: 103,881,543 (GRCm39) F292L possibly damaging Het
Fcgbpl1 A G 7: 27,853,848 (GRCm39) D1604G possibly damaging Het
Fos T C 12: 85,521,871 (GRCm39) S102P probably benign Het
Foxs1 C T 2: 152,774,361 (GRCm39) G231S probably benign Het
Furin T C 7: 80,046,734 (GRCm39) D174G probably damaging Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Git2 C T 5: 114,904,550 (GRCm39) R123H probably damaging Het
Gm32687 T A 10: 81,716,023 (GRCm39) C472S probably damaging Het
Gmip A G 8: 70,267,085 (GRCm39) E327G probably benign Het
Gpld1 A G 13: 25,146,388 (GRCm39) T211A probably benign Het
Grin2d T C 7: 45,511,803 (GRCm39) H214R probably benign Het
Hfm1 T C 5: 107,043,909 (GRCm39) T576A probably benign Het
Hnrnpd A T 5: 100,115,113 (GRCm39) F142I probably damaging Het
Krt32 T A 11: 99,972,047 (GRCm39) T434S probably benign Het
Lct T G 1: 128,228,469 (GRCm39) D1008A probably damaging Het
Man1c1 A G 4: 134,291,814 (GRCm39) probably null Het
Marchf7 T A 2: 60,060,048 (GRCm39) C58* probably null Het
Mccc1 C T 3: 36,029,943 (GRCm39) probably null Het
Mybpc1 T A 10: 88,385,187 (GRCm39) D484V probably damaging Het
Myh10 T A 11: 68,636,806 (GRCm39) C227S unknown Het
Niban1 T A 1: 151,594,063 (GRCm39) V916E probably benign Het
Nin T C 12: 70,109,480 (GRCm39) E153G Het
Nr1h2 G A 7: 44,200,216 (GRCm39) T313M probably damaging Het
Or4g7 T A 2: 111,309,477 (GRCm39) I116K probably damaging Het
Or5k15 G T 16: 58,709,629 (GRCm39) A318D probably benign Het
Otog C A 7: 45,937,279 (GRCm39) H1663N possibly damaging Het
Piezo2 G T 18: 63,186,081 (GRCm39) T1696K probably benign Het
Plcd1 A T 9: 118,901,322 (GRCm39) N703K possibly damaging Het
Plekhg4 T A 8: 106,102,031 (GRCm39) C7S probably benign Het
Pnma2 A G 14: 67,153,428 (GRCm39) probably benign Het
Potegl A G 2: 23,097,837 (GRCm39) Y5C probably benign Het
Prag1 A G 8: 36,614,096 (GRCm39) Y1216C probably damaging Het
Prima1 T C 12: 103,163,566 (GRCm39) Y135C probably damaging Het
Prkce C A 17: 86,800,721 (GRCm39) S379* probably null Het
Prmt7 A G 8: 106,968,835 (GRCm39) N383S probably damaging Het
Ptafr A G 4: 132,307,063 (GRCm39) Y151C probably damaging Het
Ptprn2 T C 12: 116,449,486 (GRCm39) M1T probably null Het
Rad23a A T 8: 85,565,108 (GRCm39) S136T probably benign Het
Rnf123 A T 9: 107,947,818 (GRCm39) Y137N probably damaging Het
Sfxn4 A C 19: 60,842,324 (GRCm39) I126S probably benign Het
Slc4a4 A G 5: 89,373,726 (GRCm39) H935R probably damaging Het
Slitrk3 T G 3: 72,958,448 (GRCm39) N108T probably damaging Het
Spred1 T A 2: 117,007,806 (GRCm39) H237Q probably benign Het
Syne1 T A 10: 5,074,820 (GRCm39) K1168N probably damaging Het
Syt14 T C 1: 192,665,885 (GRCm39) K340E unknown Het
Tespa1 T C 10: 130,190,624 (GRCm39) S84P probably damaging Het
Tmem268 G T 4: 63,480,681 (GRCm39) probably benign Het
Tmem52b T A 6: 129,493,040 (GRCm39) Y48* probably null Het
Tox2 C A 2: 163,157,822 (GRCm39) Y295* probably null Het
Trp53bp1 T G 2: 121,067,119 (GRCm39) T536P possibly damaging Het
Tysnd1 T C 10: 61,531,665 (GRCm39) C106R probably benign Het
Unc5d T C 8: 29,381,449 (GRCm39) I63V probably damaging Het
Vmn1r235 A G 17: 21,481,881 (GRCm39) N69D possibly damaging Het
Vps11 A T 9: 44,260,258 (GRCm39) M868K probably benign Het
Wipf3 A G 6: 54,462,509 (GRCm39) T240A possibly damaging Het
Xirp2 G A 2: 67,345,309 (GRCm39) E2517K possibly damaging Het
Ylpm1 T A 12: 85,043,994 (GRCm39) L244Q unknown Het
Zdhhc18 G T 4: 133,342,520 (GRCm39) S198* probably null Het
Zfp760 T A 17: 21,941,242 (GRCm39) L139* probably null 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
R5145:Ddx21 UTSW 10 62,423,318 (GRCm39) critical splice acceptor site probably null
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
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'- GTGCAATCCAGAAAGCACAG -3'
(R):5'- CCAGTGGTCCGTGTTAATGG -3'

Sequencing Primer
(F):5'- ATAAAAGAAATGTTAATTGGCTCTGC -3'
(R):5'- CCGTGTTAATGGTGCTGCG -3'
Posted On 2019-10-24