Incidental Mutation 'R1646:Ddx31'
ID 173858
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 039682-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.855) question?
Stock # R1646 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 28730418-28795583 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28782532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 625 (V625A)
Ref Sequence ENSEMBL: ENSMUSP00000109484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113853]
AlphaFold Q6NZQ2
Predicted Effect probably benign
Transcript: ENSMUST00000113853
AA Change: V625A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: V625A

DomainStartEndE-ValueType
DEXDc 123 332 2.28e-48 SMART
HELICc 408 487 4.02e-26 SMART
DUF4217 556 621 6.21e-22 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.8%
Validation Efficiency 96% (69/72)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna T G 4: 63,302,129 (GRCm39) I581L probably benign Het
Cacnb4 A G 2: 52,364,912 (GRCm39) I117T possibly damaging Het
Capn1 A T 19: 6,047,760 (GRCm39) F434L probably benign Het
Cbs T C 17: 31,832,169 (GRCm39) T547A probably benign Het
Col6a5 A T 9: 105,739,948 (GRCm39) L2557* probably null Het
Dach1 A G 14: 98,406,550 (GRCm39) S66P unknown Het
Dmxl1 T G 18: 50,095,328 (GRCm39) V2969G probably damaging Het
Eapp T A 12: 54,732,745 (GRCm39) K122* probably null Het
Elapor1 A T 3: 108,370,306 (GRCm39) S751T probably damaging Het
Epb41l5 G T 1: 119,477,752 (GRCm39) probably benign Het
Fat1 T C 8: 45,471,079 (GRCm39) S1628P probably damaging Het
Fgfr2 T A 7: 129,844,374 (GRCm39) E37V probably damaging Het
Fgfr4 A T 13: 55,313,777 (GRCm39) N529Y probably damaging Het
Fsip2 A T 2: 82,808,861 (GRCm39) T1727S probably benign Het
Gak A T 5: 108,750,720 (GRCm39) S397T probably damaging Het
Gm6040 T A 8: 21,407,113 (GRCm39) I36F possibly damaging Het
Grhl1 A G 12: 24,661,860 (GRCm39) D513G possibly damaging Het
Gstt1 T A 10: 75,619,940 (GRCm39) D219V possibly damaging Het
Hcfc2 T G 10: 82,536,861 (GRCm39) V91G probably damaging Het
Hells A T 19: 38,956,227 (GRCm39) I808L probably benign Het
Icmt T A 4: 152,384,172 (GRCm39) V110E possibly damaging Het
Ilrun A G 17: 28,012,934 (GRCm39) S88P probably damaging Het
Iqca1 C T 1: 90,067,760 (GRCm39) V164M probably damaging Het
Klri1 G A 6: 129,680,299 (GRCm39) P119S probably benign Het
Krt71 C A 15: 101,647,199 (GRCm39) probably null Het
Lpin1 A G 12: 16,623,659 (GRCm39) probably null Het
Macir A T 1: 97,573,531 (GRCm39) I178N probably damaging Het
Metap2 T C 10: 93,706,059 (GRCm39) H241R probably damaging Het
Myh15 A G 16: 49,015,931 (GRCm39) Y1869C probably damaging Het
Myo1h G A 5: 114,455,693 (GRCm39) G59E possibly damaging Het
Ncam2 T G 16: 81,262,594 (GRCm39) probably benign Het
Npat T C 9: 53,466,434 (GRCm39) V241A probably benign Het
Npbwr1 C A 1: 5,987,473 (GRCm39) V14L probably benign Het
Nup37 T A 10: 88,014,096 (GRCm39) V323E possibly damaging Het
Or11g27 A T 14: 50,771,040 (GRCm39) Q57L probably benign Het
Or5m9b A G 2: 85,905,960 (GRCm39) N292S probably damaging Het
Or5p59 C T 7: 107,702,798 (GRCm39) T94I probably benign Het
Or7a35 C A 10: 78,853,340 (GRCm39) Y61* probably null Het
Pdlim4 A T 11: 53,947,080 (GRCm39) L132Q possibly damaging Het
Ptcd3 T C 6: 71,875,379 (GRCm39) D201G probably benign Het
Ptk7 A T 17: 46,897,223 (GRCm39) F370I probably benign Het
Pus7l T C 15: 94,431,517 (GRCm39) N371D probably benign Het
Pzp G A 6: 128,480,518 (GRCm39) A589V probably benign Het
Rasef T A 4: 73,652,786 (GRCm39) R572W probably damaging Het
Reep5 T C 18: 34,482,712 (GRCm39) T166A probably benign Het
Rhov A G 2: 119,101,501 (GRCm39) V35A probably damaging Het
Ripk4 C T 16: 97,545,097 (GRCm39) G517R probably damaging Het
Rnasel A G 1: 153,630,800 (GRCm39) T439A probably damaging Het
Slamf9 A G 1: 172,304,907 (GRCm39) T174A probably benign Het
Slc12a9 A G 5: 137,321,411 (GRCm39) L414P probably damaging Het
Slf1 G A 13: 77,214,767 (GRCm39) R640* probably null Het
Slfn8 G T 11: 82,907,712 (GRCm39) P277Q probably damaging Het
Stpg2 T A 3: 139,125,463 (GRCm39) probably benign Het
Tm9sf3 A C 19: 41,211,618 (GRCm39) N408K possibly damaging Het
Trio A G 15: 27,758,433 (GRCm39) V2049A possibly damaging Het
Ttn A T 2: 76,645,077 (GRCm39) I11180N probably damaging Het
Ush2a T C 1: 188,148,018 (GRCm39) C982R probably damaging Het
Usp36 C T 11: 118,164,392 (GRCm39) V207M probably damaging Het
Uvrag T C 7: 98,767,431 (GRCm39) T67A probably damaging Het
Vasp G A 7: 18,994,903 (GRCm39) probably benign Het
Vmn2r115 T C 17: 23,578,513 (GRCm39) F662S probably damaging Het
Vmn2r54 A T 7: 12,366,434 (GRCm39) C167S probably damaging Het
Vmn2r71 C A 7: 85,270,476 (GRCm39) N547K probably damaging Het
Wasf2 A G 4: 132,903,902 (GRCm39) I37V probably benign Het
Wwc2 T C 8: 48,295,937 (GRCm39) E1111G unknown Het
Zfp317 A G 9: 19,558,608 (GRCm39) Y274C probably damaging Het
Zhx3 T C 2: 160,623,195 (GRCm39) Y324C probably damaging Het
Zzef1 T C 11: 72,754,862 (GRCm39) probably null 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
R1532:Ddx31 UTSW 2 28,771,171 (GRCm39) missense probably benign 0.00
R1608:Ddx31 UTSW 2 28,749,078 (GRCm39) missense probably damaging 0.97
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'- TGGGGTAGCCTTGAGACTTCAGAAC -3'
(R):5'- TGGTGACTTCTGCAAAACTCAGCAC -3'

Sequencing Primer
(F):5'- TTGAGACTTCAGAACCCCTATCC -3'
(R):5'- CCAAGTTACTCTAGTGGGACATGAC -3'
Posted On 2014-04-24