Incidental Mutation 'R1532:Ddx31'
ID 166628
Institutional Source Beutler Lab
Gene Symbol Ddx31
Ensembl Gene ENSMUSG00000026806
Gene Name DEAD/H box helicase 31
Synonyms 5830444G11Rik, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31
MMRRC Submission 039571-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.855) question?
Stock # R1532 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 28730418-28795583 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28771171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 519 (M519V)
Ref Sequence ENSEMBL: ENSMUSP00000109484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113853]
AlphaFold Q6NZQ2
Predicted Effect probably benign
Transcript: ENSMUST00000113853
AA Change: M519V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: M519V

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: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.9%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 C A 4: 86,166,302 (GRCm39) H394N probably benign Het
Ahrr A G 13: 74,361,826 (GRCm39) S558P probably benign Het
Ankrd26 T C 6: 118,499,919 (GRCm39) N1184S probably damaging Het
Anpep A T 7: 79,476,696 (GRCm39) C14* probably null Het
Arhgap18 A G 10: 26,736,718 (GRCm39) D187G possibly damaging Het
Arhgef5 A G 6: 43,250,337 (GRCm39) T363A probably benign Het
Atxn1 A T 13: 45,720,386 (GRCm39) L503Q possibly damaging Het
Babam1 A G 8: 71,852,277 (GRCm39) D155G possibly damaging Het
Bbs9 A G 9: 22,798,945 (GRCm39) T858A probably benign Het
Cacna1g C A 11: 94,334,157 (GRCm39) G828V probably damaging Het
Ccar2 T C 14: 70,380,405 (GRCm39) T392A probably benign Het
Cd163 T C 6: 124,289,689 (GRCm39) V469A possibly damaging Het
Cdh23 G T 10: 60,150,110 (GRCm39) N2576K probably damaging Het
Coro2b A G 9: 62,396,705 (GRCm39) Y18H probably damaging Het
Crispld2 G T 8: 120,750,311 (GRCm39) K238N probably benign Het
Ctnnd2 T C 15: 30,922,014 (GRCm39) I880T probably damaging Het
Cubn C A 2: 13,292,472 (GRCm39) C3237F probably damaging Het
Dhx32 A T 7: 133,350,753 (GRCm39) C106S possibly damaging Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Dnaaf1 T C 8: 120,304,162 (GRCm39) F67L probably benign Het
Duox1 T G 2: 122,175,204 (GRCm39) L1334R probably damaging Het
Dync1li2 A T 8: 105,152,667 (GRCm39) I322N probably damaging Het
Eml6 T C 11: 29,742,256 (GRCm39) probably null Het
Entpd6 A G 2: 150,600,670 (GRCm39) Q126R probably benign Het
Entpd7 C G 19: 43,679,516 (GRCm39) P23R possibly damaging Het
Epha3 T C 16: 63,366,541 (GRCm39) I970V probably benign Het
Fras1 A T 5: 96,861,855 (GRCm39) H2163L probably damaging Het
Gse1 C G 8: 121,294,949 (GRCm39) probably benign Het
Heatr5a A G 12: 51,999,301 (GRCm39) V300A probably damaging Het
Hsd3b1 T A 3: 98,760,214 (GRCm39) D259V probably damaging Het
Hspbap1 T C 16: 35,645,673 (GRCm39) S453P probably damaging Het
Ifnl3 A G 7: 28,223,652 (GRCm39) T163A probably benign Het
Igbp1b T A 6: 138,635,442 (GRCm39) M1L possibly damaging Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lpxn T C 19: 12,781,456 (GRCm39) probably null Het
Mast1 G A 8: 85,655,238 (GRCm39) Q249* probably null Het
Mink1 A G 11: 70,492,833 (GRCm39) D153G probably null Het
Mllt10 G A 2: 18,097,646 (GRCm39) probably null Het
Mpl C T 4: 118,305,765 (GRCm39) G420E possibly damaging Het
Ms4a1 T A 19: 11,230,557 (GRCm39) T215S probably benign Het
Ncapd3 C T 9: 26,994,656 (GRCm39) Q1179* probably null Het
Nr3c2 A G 8: 77,635,733 (GRCm39) H278R probably damaging Het
Or10v5 T C 19: 11,805,983 (GRCm39) I136V probably benign Het
Or52e18 T C 7: 104,609,472 (GRCm39) I156V probably benign Het
Or5b102 A G 19: 13,041,639 (GRCm39) Y288C probably damaging Het
Os9 C T 10: 126,934,771 (GRCm39) V353M probably damaging Het
Osbpl5 A T 7: 143,248,817 (GRCm39) M589K probably benign Het
Phf20 G T 2: 156,144,969 (GRCm39) G859V possibly damaging Het
Pkhd1 G A 1: 20,187,625 (GRCm39) T3561I probably benign Het
Prss46 G A 9: 110,679,236 (GRCm39) V146I probably benign Het
Ptprk G A 10: 28,461,626 (GRCm39) V1139M probably damaging Het
Ranbp10 A G 8: 106,500,963 (GRCm39) L396P probably benign Het
Rb1cc1 A G 1: 6,319,958 (GRCm39) T1126A probably benign Het
Rbl2 G A 8: 91,833,045 (GRCm39) A659T probably benign Het
Rdm1 T C 11: 101,524,643 (GRCm39) L192P probably damaging Het
Reln A C 5: 22,239,742 (GRCm39) W842G probably damaging Het
Scn5a C T 9: 119,362,913 (GRCm39) R569H probably damaging Het
Sele A G 1: 163,881,420 (GRCm39) K509R probably benign Het
Slc15a1 A T 14: 121,713,396 (GRCm39) I377N possibly damaging Het
Slc17a3 G A 13: 24,040,483 (GRCm39) G269D probably damaging Het
Slc35a5 T C 16: 44,971,920 (GRCm39) T115A probably benign Het
Slc5a12 T G 2: 110,440,483 (GRCm39) N157K possibly damaging Het
Sphkap A G 1: 83,234,924 (GRCm39) V1634A probably damaging Het
Spta1 T C 1: 174,074,919 (GRCm39) S2382P probably damaging Het
Synj2 C A 17: 6,084,194 (GRCm39) S1100R probably benign Het
Tcf23 A G 5: 31,130,901 (GRCm39) T180A probably benign Het
Tnxb T C 17: 34,929,804 (GRCm39) V2846A probably damaging Het
Tpr T A 1: 150,293,751 (GRCm39) I915K probably damaging Het
Uba1y C T Y: 828,862 (GRCm39) H557Y probably benign Het
Unc45b T A 11: 82,827,700 (GRCm39) D730E probably benign Het
Unc5b A T 10: 60,605,011 (GRCm39) L734Q probably damaging Het
Vmn1r167 G T 7: 23,204,204 (GRCm39) H271N probably benign Het
Vmn2r76 A G 7: 85,879,454 (GRCm39) V282A probably benign Het
Xirp2 A G 2: 67,344,283 (GRCm39) K2175E probably benign Het
Other mutations in Ddx31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01664:Ddx31 APN 2 28,765,847 (GRCm39) splice site probably benign
IGL01918:Ddx31 APN 2 28,764,176 (GRCm39) missense probably damaging 1.00
IGL02174:Ddx31 APN 2 28,749,041 (GRCm39) missense probably damaging 1.00
IGL02560:Ddx31 APN 2 28,765,838 (GRCm39) missense probably damaging 1.00
IGL02938:Ddx31 APN 2 28,749,035 (GRCm39) missense possibly damaging 0.49
R0241:Ddx31 UTSW 2 28,738,303 (GRCm39) missense probably damaging 1.00
R0241:Ddx31 UTSW 2 28,738,303 (GRCm39) missense probably damaging 1.00
R0440:Ddx31 UTSW 2 28,747,144 (GRCm39) missense probably damaging 1.00
R0701:Ddx31 UTSW 2 28,748,789 (GRCm39) missense probably null 1.00
R0729:Ddx31 UTSW 2 28,764,186 (GRCm39) missense probably damaging 1.00
R1227:Ddx31 UTSW 2 28,747,187 (GRCm39) missense probably damaging 1.00
R1608:Ddx31 UTSW 2 28,749,078 (GRCm39) missense probably damaging 0.97
R1646:Ddx31 UTSW 2 28,782,532 (GRCm39) missense probably benign
R1674:Ddx31 UTSW 2 28,748,828 (GRCm39) missense probably damaging 1.00
R1834:Ddx31 UTSW 2 28,782,465 (GRCm39) missense probably damaging 1.00
R1884:Ddx31 UTSW 2 28,749,002 (GRCm39) missense probably damaging 0.97
R4133:Ddx31 UTSW 2 28,748,864 (GRCm39) missense probably damaging 1.00
R4911:Ddx31 UTSW 2 28,794,696 (GRCm39) missense probably benign 0.00
R4972:Ddx31 UTSW 2 28,750,782 (GRCm39) missense probably damaging 1.00
R5240:Ddx31 UTSW 2 28,736,042 (GRCm39) missense probably benign 0.03
R5358:Ddx31 UTSW 2 28,753,782 (GRCm39) missense probably damaging 0.98
R5450:Ddx31 UTSW 2 28,776,981 (GRCm39) missense probably damaging 0.97
R5945:Ddx31 UTSW 2 28,749,902 (GRCm39) missense probably damaging 1.00
R5956:Ddx31 UTSW 2 28,764,185 (GRCm39) missense probably damaging 1.00
R6235:Ddx31 UTSW 2 28,734,854 (GRCm39) missense probably benign 0.00
R6245:Ddx31 UTSW 2 28,734,994 (GRCm39) missense probably benign 0.00
R6463:Ddx31 UTSW 2 28,737,525 (GRCm39) critical splice donor site probably null
R6647:Ddx31 UTSW 2 28,765,750 (GRCm39) missense probably damaging 1.00
R6783:Ddx31 UTSW 2 28,764,188 (GRCm39) missense probably benign 0.26
R6917:Ddx31 UTSW 2 28,782,421 (GRCm39) missense probably damaging 1.00
R7135:Ddx31 UTSW 2 28,738,318 (GRCm39) missense probably benign
R7819:Ddx31 UTSW 2 28,782,463 (GRCm39) missense probably damaging 1.00
R8812:Ddx31 UTSW 2 28,730,816 (GRCm39) unclassified probably benign
R9122:Ddx31 UTSW 2 28,748,753 (GRCm39) missense probably damaging 1.00
R9326:Ddx31 UTSW 2 28,749,008 (GRCm39) missense probably damaging 1.00
R9571:Ddx31 UTSW 2 28,750,034 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTGAGGTAACCTGCTTTAGGCCC -3'
(R):5'- GACTGGTGCCCATTAACAGGATGAG -3'

Sequencing Primer
(F):5'- ccagggctatacaaacaaacaaac -3'
(R):5'- aacaaaacaaaacaaaacaaaacaCC -3'
Posted On 2014-04-13