Incidental Mutation 'R5956:Ddx31'
ID 471161
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 044144-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.855) question?
Stock # R5956 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 28730418-28795583 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28764185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 464 (I464F)
Ref Sequence ENSEMBL: ENSMUSP00000109484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113853]
AlphaFold Q6NZQ2
Predicted Effect probably damaging
Transcript: ENSMUST00000113853
AA Change: I464F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: I464F

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 0.9173 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 98% (63/64)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,203,893 (GRCm39) I398K possibly damaging Het
Acad9 A G 3: 36,129,323 (GRCm39) probably benign Het
Acsm2 T C 7: 119,153,704 (GRCm39) S5P unknown Het
Akp3 T C 1: 87,054,667 (GRCm39) I334T probably damaging Het
Amy1 C T 3: 113,357,311 (GRCm39) R176H probably benign Het
Ank2 A T 3: 126,736,337 (GRCm39) probably benign Het
Cav1 C A 6: 17,307,918 (GRCm39) N23K probably damaging Het
Cep126 A G 9: 8,112,120 (GRCm39) V151A probably benign Het
Cnot1 A G 8: 96,481,606 (GRCm39) probably null Het
Crim1 T A 17: 78,623,146 (GRCm39) V448E probably damaging Het
Csmd3 T C 15: 48,655,278 (GRCm39) E8G possibly damaging Het
Ddx54 A G 5: 120,764,432 (GRCm39) probably benign Het
Dhx16 A G 17: 36,193,762 (GRCm39) E319G probably damaging Het
Efl1 A G 7: 82,301,107 (GRCm39) D37G probably damaging Het
Epha5 T C 5: 84,298,228 (GRCm39) R444G probably damaging Het
Exoc2 C A 13: 31,004,606 (GRCm39) C859F probably benign Het
Gbx2 T C 1: 89,860,908 (GRCm39) probably benign Het
Gm12258 G A 11: 58,750,285 (GRCm39) A9T probably benign Het
Gpr141b T G 13: 19,913,300 (GRCm39) noncoding transcript Het
Grm4 A G 17: 27,654,129 (GRCm39) V607A probably benign Het
Gvin3 T C 7: 106,200,677 (GRCm39) noncoding transcript Het
Ighv1-74 C A 12: 115,766,455 (GRCm39) W55L probably damaging Het
Irx4 C A 13: 73,415,626 (GRCm39) Y138* probably null Het
Itpr1 C A 6: 108,482,988 (GRCm39) T2352K probably benign Het
Kcnk3 T G 5: 30,745,854 (GRCm39) V65G probably damaging Het
Mctp2 T C 7: 71,908,923 (GRCm39) E130G probably benign Het
Mgat5 C A 1: 127,310,676 (GRCm39) R197S probably benign Het
Mpg T C 11: 32,177,951 (GRCm39) probably null Het
Muc5b T C 7: 141,417,910 (GRCm39) C3619R probably damaging Het
Myo15b G A 11: 115,764,583 (GRCm39) V1321I probably benign Het
Myo1b T C 1: 51,815,391 (GRCm39) T658A probably damaging Het
Nomo1 T C 7: 45,692,037 (GRCm39) S154P possibly damaging Het
Nsd1 T A 13: 55,411,217 (GRCm39) F1423I probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or9g3 A G 2: 85,584,183 (GRCm39) probably benign Het
Osbpl6 A G 2: 76,379,856 (GRCm39) R149G probably damaging Het
Pacc1 A G 1: 191,080,568 (GRCm39) S263G probably damaging Het
Papola T A 12: 105,777,300 (GRCm39) W281R probably damaging Het
Pole C T 5: 110,485,153 (GRCm39) probably benign Het
Rptn A G 3: 93,305,334 (GRCm39) N889S possibly damaging Het
Scn10a A G 9: 119,460,626 (GRCm39) S1084P probably damaging Het
Scnm1 T C 3: 95,037,596 (GRCm39) I157V probably benign Het
Sertad2 G A 11: 20,597,884 (GRCm39) G27S probably benign Het
Siglece T C 7: 43,308,760 (GRCm39) T198A probably damaging Het
Sptb T A 12: 76,650,942 (GRCm39) M1678L probably benign Het
Taf8 A T 17: 47,809,467 (GRCm39) M98K probably damaging Het
Tead2 T A 7: 44,870,138 (GRCm39) probably benign Het
Trrap C T 5: 144,744,201 (GRCm39) silent Het
Ttn G T 2: 76,775,914 (GRCm39) N1709K probably damaging Het
Ube3a T C 7: 58,926,768 (GRCm39) probably benign Het
Ube3c T C 5: 29,804,054 (GRCm39) probably benign Het
Unc80 T C 1: 66,567,123 (GRCm39) S910P probably damaging Het
Usp30 G A 5: 114,257,682 (GRCm39) R280Q possibly damaging Het
Vsx1 T C 2: 150,530,457 (GRCm39) S142G possibly damaging Het
Wdr95 T G 5: 149,517,947 (GRCm39) C360G probably benign Het
Zbtb4 A G 11: 69,669,040 (GRCm39) I588V probably benign Het
Zdhhc4 A T 5: 143,310,604 (GRCm39) probably benign Het
Zfp568 C A 7: 29,697,288 (GRCm39) N69K probably damaging 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
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
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'- TTCGGCCAGGAGTAGTAACAC -3'
(R):5'- TATGCCCTCTCCTGAGAATGCC -3'

Sequencing Primer
(F):5'- GCCAGGAGTAGTAACACACATTG -3'
(R):5'- TCCTGAGAATGCCGTCCTG -3'
Posted On 2017-03-31