Incidental Mutation 'R9571:Ddx31'
ID 721964
Institutional Source Beutler Lab
Gene Symbol Ddx31
Ensembl Gene ENSMUSG00000026806
Gene Name DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.784) question?
Stock # R9571 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 28840406-28905571 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28860022 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 352 (V352D)
Ref Sequence ENSEMBL: ENSMUSP00000109484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113853]
AlphaFold Q6NZQ2
Predicted Effect probably damaging
Transcript: ENSMUST00000113853
AA Change: V352D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: V352D

DomainStartEndE-ValueType
DEXDc 123 332 2.28e-48 SMART
HELICc 408 487 4.02e-26 SMART
DUF4217 556 621 6.21e-22 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A G 2: 130,405,562 D6G probably benign Het
Abl2 T G 1: 156,641,514 S783A probably damaging Het
Adamtsl1 A T 4: 86,199,306 T169S probably benign Het
Adcy9 A G 16: 4,323,789 V621A probably benign Het
Ahnak2 T C 12: 112,776,076 S521G possibly damaging Het
Ap2m1 G A 16: 20,541,287 G213R probably damaging Het
Apol11b C T 15: 77,640,571 E5K possibly damaging Het
Arl4d T C 11: 101,667,206 M186T possibly damaging Het
Cep192 A G 18: 67,819,038 D428G probably damaging Het
Ckap5 A C 2: 91,557,608 D266A probably damaging Het
Crls1 A T 2: 132,849,873 N106I probably damaging Het
Csmd3 T A 15: 48,792,002 probably benign Het
Csnk1a1 A G 18: 61,571,898 R161G possibly damaging Het
Cyp4f39 T A 17: 32,483,222 I231N probably damaging Het
Dna2 A G 10: 62,964,961 D758G probably damaging Het
Gatad2a C A 8: 69,917,731 A172S probably benign Het
Ghsr G T 3: 27,372,515 R240L probably benign Het
Gli3 T A 13: 15,726,273 M1415K probably benign Het
Glo1 G A 17: 30,597,861 T107I possibly damaging Het
Gm10800 AAAGAAAACTGAA ACAAGAAAACTGAA 2: 98,667,033 probably null Het
Gm17334 C T 11: 53,772,934 V34M unknown Het
Gm4981 G A 10: 58,235,556 L279F possibly damaging Het
Habp4 T A 13: 64,174,801 M228K probably benign Het
Hacl1 A G 14: 31,622,881 V257A possibly damaging Het
Ift122 T G 6: 115,880,667 S125A possibly damaging Het
Iqce C T 5: 140,666,107 D704N possibly damaging Het
Jcad T A 18: 4,673,252 L338* probably null Het
Kcnj13 T C 1: 87,389,127 D88G probably damaging Het
Kif1b T C 4: 149,220,641 D942G probably damaging Het
March8 T A 6: 116,406,276 S271T probably benign Het
Meis1 A G 11: 19,011,378 L165S probably damaging Het
Morc2b T A 17: 33,136,204 T865S probably benign Het
Morc3 T A 16: 93,844,219 N46K possibly damaging Het
Mpzl1 C T 1: 165,601,805 C219Y probably benign Het
Mup5 A G 4: 61,832,550 probably null Het
Ninl A T 2: 150,949,883 W907R probably benign Het
Nol6 A T 4: 41,120,156 S491T probably benign Het
Olfr1276 A T 2: 111,257,738 I208F probably benign Het
Olfr1480 T A 19: 13,530,333 I264N probably damaging Het
Olfr578 A G 7: 102,985,014 V50A probably benign Het
Olfr775 C A 10: 129,251,313 P260T possibly damaging Het
Osbpl6 T A 2: 76,594,847 M919K probably benign Het
Otogl A T 10: 107,762,503 V2262E possibly damaging Het
Pcbp2 A G 15: 102,474,678 D77G possibly damaging Het
Pcsk7 G A 9: 45,909,609 R113Q possibly damaging Het
Pds5b T C 5: 150,722,506 I143T probably damaging Het
Polr2m T C 9: 71,479,428 E357G possibly damaging Het
Prox2 G A 12: 85,094,992 Q146* probably null Het
Ptprt A G 2: 161,553,812 V1167A probably benign Het
Rbm11 G A 16: 75,600,655 E158K possibly damaging Het
Sall2 A T 14: 52,314,373 V455E probably damaging Het
Sar1b T A 11: 51,789,237 L130Q probably damaging Het
Slc35f6 A G 5: 30,657,836 N369S possibly damaging Het
Slc39a12 A T 2: 14,407,569 M351L probably benign Het
Taf15 T A 11: 83,504,661 Y397* probably null Het
Tmprss11e A T 5: 86,727,290 V39D probably damaging Het
Trim71 T C 9: 114,513,291 D641G probably damaging Het
Trpc3 T A 3: 36,640,760 T682S probably damaging Het
Tsen54 T C 11: 115,817,107 probably null Het
Usp6nl A G 2: 6,441,149 N646D possibly damaging Het
Vip T C 10: 5,640,661 F12L probably benign Het
Vmn1r39 A T 6: 66,804,588 F249I probably benign Het
Vmn2r106 A T 17: 20,285,379 S18T probably benign Het
Vmn2r97 G T 17: 18,929,657 V436L probably benign Het
Washc2 T C 6: 116,260,670 probably null Het
Ykt6 T C 11: 5,964,613 V171A possibly damaging Het
Zfp658 A G 7: 43,572,715 D138G possibly damaging Het
Other mutations in Ddx31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01664:Ddx31 APN 2 28875835 splice site probably benign
IGL01918:Ddx31 APN 2 28874164 missense probably damaging 1.00
IGL02174:Ddx31 APN 2 28859029 missense probably damaging 1.00
IGL02560:Ddx31 APN 2 28875826 missense probably damaging 1.00
IGL02938:Ddx31 APN 2 28859023 missense possibly damaging 0.49
R0241:Ddx31 UTSW 2 28848291 missense probably damaging 1.00
R0241:Ddx31 UTSW 2 28848291 missense probably damaging 1.00
R0440:Ddx31 UTSW 2 28857132 missense probably damaging 1.00
R0701:Ddx31 UTSW 2 28858777 missense probably null 1.00
R0729:Ddx31 UTSW 2 28874174 missense probably damaging 1.00
R1227:Ddx31 UTSW 2 28857175 missense probably damaging 1.00
R1532:Ddx31 UTSW 2 28881159 missense probably benign 0.00
R1608:Ddx31 UTSW 2 28859066 missense probably damaging 0.97
R1646:Ddx31 UTSW 2 28892520 missense probably benign
R1674:Ddx31 UTSW 2 28858816 missense probably damaging 1.00
R1834:Ddx31 UTSW 2 28892453 missense probably damaging 1.00
R1884:Ddx31 UTSW 2 28858990 missense probably damaging 0.97
R4133:Ddx31 UTSW 2 28858852 missense probably damaging 1.00
R4911:Ddx31 UTSW 2 28904684 missense probably benign 0.00
R4972:Ddx31 UTSW 2 28860770 missense probably damaging 1.00
R5240:Ddx31 UTSW 2 28846030 missense probably benign 0.03
R5358:Ddx31 UTSW 2 28863770 missense probably damaging 0.98
R5450:Ddx31 UTSW 2 28886969 missense probably damaging 0.97
R5945:Ddx31 UTSW 2 28859890 missense probably damaging 1.00
R5956:Ddx31 UTSW 2 28874173 missense probably damaging 1.00
R6235:Ddx31 UTSW 2 28844842 missense probably benign 0.00
R6245:Ddx31 UTSW 2 28844982 missense probably benign 0.00
R6463:Ddx31 UTSW 2 28847513 critical splice donor site probably null
R6647:Ddx31 UTSW 2 28875738 missense probably damaging 1.00
R6783:Ddx31 UTSW 2 28874176 missense probably benign 0.26
R6917:Ddx31 UTSW 2 28892409 missense probably damaging 1.00
R7135:Ddx31 UTSW 2 28848306 missense probably benign
R7819:Ddx31 UTSW 2 28892451 missense probably damaging 1.00
R8812:Ddx31 UTSW 2 28840804 unclassified probably benign
R9122:Ddx31 UTSW 2 28858741 missense probably damaging 1.00
R9326:Ddx31 UTSW 2 28858996 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAGGTGTATATGTGACCACCC -3'
(R):5'- CATAATCATGCATGCACGCAGG -3'

Sequencing Primer
(F):5'- GGTGTAACACGGCTAGTT -3'
(R):5'- AGGCACTCGCTTACCCATG -3'
Posted On 2022-08-09