Incidental Mutation 'IGL02174:Ddx31'
ID 283023
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx31
Ensembl Gene ENSMUSG00000026806
Gene Name DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.872) question?
Stock # IGL02174
Quality Score
Status
Chromosome 2
Chromosomal Location 28840406-28905571 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28859029 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 279 (L279Q)
Ref Sequence ENSEMBL: ENSMUSP00000109484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113853]
AlphaFold Q6NZQ2
Predicted Effect probably damaging
Transcript: ENSMUST00000113853
AA Change: L279Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: L279Q

DomainStartEndE-ValueType
DEXDc 123 332 2.28e-48 SMART
HELICc 408 487 4.02e-26 SMART
DUF4217 556 621 6.21e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152685
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T C 14: 118,500,742 I1199V probably damaging Het
Adgrv1 G A 13: 81,427,664 T4861I probably benign Het
Ampd2 T C 3: 108,080,285 D108G probably damaging Het
Azin1 A G 15: 38,493,486 F298L probably benign Het
Bag1 T A 4: 40,941,555 E123D possibly damaging Het
Cabs1 A G 5: 87,980,480 E330G probably benign Het
Ccdc33 T C 9: 58,033,655 K435E probably benign Het
Clip2 T G 5: 134,494,264 K943T probably damaging Het
Cmya5 T C 13: 93,048,907 I3527V possibly damaging Het
Cyp2w1 C T 5: 139,355,629 R244C probably benign Het
Dcaf13 C A 15: 39,138,149 A284E probably damaging Het
Dgki A G 6: 37,032,921 L497P probably damaging Het
Dnah12 A T 14: 26,706,917 I233F probably benign Het
Dpp6 G T 5: 27,721,087 G720* probably null Het
E430018J23Rik G A 7: 127,392,353 T154I possibly damaging Het
Emc1 T C 4: 139,371,668 Y821H possibly damaging Het
Esr1 C T 10: 4,998,003 R519W probably damaging Het
Gamt A T 10: 80,258,396 V227E possibly damaging Het
Habp2 A G 19: 56,311,737 Q206R probably damaging Het
Ihh A G 1: 74,950,946 I90T probably damaging Het
Kif20b T C 19: 34,934,458 probably benign Het
Lcp2 T C 11: 34,050,966 probably benign Het
Lyrm2 A G 4: 32,800,649 I29V probably benign Het
Macf1 T C 4: 123,491,794 D1168G probably damaging Het
Mocos T C 18: 24,695,896 S753P probably benign Het
Myo3a A G 2: 22,332,393 E367G probably benign Het
Ndor1 G A 2: 25,249,194 A255V possibly damaging Het
Nfat5 C T 8: 107,339,051 P148S probably damaging Het
Olfr1043 T A 2: 86,162,098 M284L possibly damaging Het
Olfr1226 A T 2: 89,193,368 F222Y probably benign Het
Olfr5 T C 7: 6,480,439 Y239C probably benign Het
Olfr890 A T 9: 38,143,785 T217S possibly damaging Het
Pappa2 C T 1: 158,761,618 C1679Y probably damaging Het
Pcdhb2 T A 18: 37,296,498 I508N probably damaging Het
Pkd2l1 G A 19: 44,157,268 T172I probably benign Het
Pld5 A G 1: 176,274,744 V44A possibly damaging Het
Prss44 T C 9: 110,817,131 W309R probably damaging Het
Rc3h2 A T 2: 37,411,225 N88K probably benign Het
Rspry1 A G 8: 94,633,140 I102M possibly damaging Het
Stab2 A G 10: 86,859,742 probably null Het
Tbx3 C A 5: 119,675,584 Y228* probably null Het
Tcf15 G T 2: 152,144,145 probably benign Het
Tmem41b A G 7: 109,978,796 S94P possibly damaging Het
Trmt10b A T 4: 45,308,508 I223F possibly damaging Het
Tyrp1 G T 4: 80,844,826 G317* probably null Het
Urod T A 4: 116,990,282 probably benign Het
Vwf G T 6: 125,555,395 R52L probably damaging Het
Wnk2 C A 13: 49,057,167 Q232H probably damaging Het
Zbtb10 C A 3: 9,251,812 P228Q probably 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
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
R9571:Ddx31 UTSW 2 28860022 missense probably damaging 0.99
Posted On 2015-04-16