Incidental Mutation 'IGL02697:Dhx8'
ID303975
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhx8
Ensembl Gene ENSMUSG00000034931
Gene NameDEAH (Asp-Glu-Ala-His) box polypeptide 8
SynonymsRNA helicase, Ddx8, mDEAH6
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.967) question?
Stock #IGL02697
Quality Score
Status
Chromosome11
Chromosomal Location101732919-101767358 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101754781 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 822 (I822T)
Ref Sequence ENSEMBL: ENSMUSP00000119430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039152] [ENSMUST00000129741]
Predicted Effect probably damaging
Transcript: ENSMUST00000039152
AA Change: I875T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037251
Gene: ENSMUSG00000034931
AA Change: I875T

DomainStartEndE-ValueType
low complexity region 2 8 N/A INTRINSIC
low complexity region 168 240 N/A INTRINSIC
low complexity region 244 254 N/A INTRINSIC
S1 287 360 3.52e-18 SMART
low complexity region 453 469 N/A INTRINSIC
coiled coil region 496 525 N/A INTRINSIC
DEXDc 587 771 7.26e-33 SMART
HELICc 815 919 7.45e-21 SMART
HA2 980 1070 1.34e-38 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000129741
AA Change: I822T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119430
Gene: ENSMUSG00000034931
AA Change: I822T

DomainStartEndE-ValueType
low complexity region 2 8 N/A INTRINSIC
low complexity region 115 187 N/A INTRINSIC
low complexity region 191 201 N/A INTRINSIC
S1 234 307 3.52e-18 SMART
low complexity region 400 416 N/A INTRINSIC
coiled coil region 443 472 N/A INTRINSIC
DEXDc 534 718 7.26e-33 SMART
HELICc 762 866 7.45e-21 SMART
HA2 927 1017 1.34e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141461
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the DEAH box polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as an ATP-dependent RNA helicase that regulates the release of spliced mRNAs from spliceosomes prior to their export from the nucleus. This protein may be required for the replication of human immunodeficiency virus type 1 (HIV-1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 A T 4: 47,471,772 N345K probably damaging Het
Atp13a5 T A 16: 29,348,532 H151L probably benign Het
C2cd3 T C 7: 100,427,169 probably benign Het
Cep57l1 G T 10: 41,722,954 P212T possibly damaging Het
Coch G A 12: 51,597,038 A135T probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cul5 A G 9: 53,655,331 S134P probably benign Het
Cyp4f14 T C 17: 32,905,623 T485A probably damaging Het
Dennd3 T C 15: 73,524,236 F198S possibly damaging Het
Dennd5a C A 7: 109,894,781 A1239S probably damaging Het
Dnah5 A T 15: 28,445,143 M4142L probably benign Het
Dyrk4 T A 6: 126,899,008 N88I possibly damaging Het
Emc1 T C 4: 139,352,644 F9L probably benign Het
Gga1 A G 15: 78,885,346 E173G probably damaging Het
H1fnt T C 15: 98,257,169 K33R probably benign Het
Hepacam2 A T 6: 3,476,036 H296Q possibly damaging Het
Ipo9 G T 1: 135,390,576 Q699K probably benign Het
Jmy A T 13: 93,459,701 Y473* probably null Het
Kdm5b A T 1: 134,588,773 probably benign Het
Kit A G 5: 75,607,259 S101G probably benign Het
Krtap4-9 T A 11: 99,785,748 V165E unknown Het
Lnpep T A 17: 17,553,193 M639L probably benign Het
Lrp10 C T 14: 54,469,697 P664S probably damaging Het
Nrde2 A T 12: 100,131,207 L778H probably damaging Het
Oat A T 7: 132,569,955 probably null Het
Pfkl A T 10: 77,999,918 S219T probably benign Het
Phtf1 C T 3: 103,997,563 A509V probably benign Het
Pigz T A 16: 31,944,759 probably null Het
Pltp T A 2: 164,840,526 Y344F probably benign Het
Ppp6r2 A G 15: 89,256,755 Y107C probably benign Het
Ptprk A G 10: 28,575,618 D1034G possibly damaging Het
Rell1 C T 5: 63,927,011 V221I probably damaging Het
Skint5 A G 4: 113,479,713 F1429S probably benign Het
Slc22a28 T A 19: 8,117,127 T177S probably benign Het
Stxbp5 G T 10: 9,762,956 S1033* probably null Het
Tgs1 A G 4: 3,585,564 D147G probably benign Het
Thumpd3 T A 6: 113,067,295 N423K probably benign Het
Tns3 G T 11: 8,492,346 D672E probably benign Het
Vmn2r61 T A 7: 42,275,468 V482E possibly damaging Het
Vmn2r72 G T 7: 85,738,671 Q562K probably benign Het
Zan T C 5: 137,400,548 T4185A unknown Het
Other mutations in Dhx8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01922:Dhx8 APN 11 101739807 missense probably damaging 0.99
IGL01957:Dhx8 APN 11 101754826 missense possibly damaging 0.48
IGL02039:Dhx8 APN 11 101764027 critical splice donor site probably null
IGL02115:Dhx8 APN 11 101752388 missense probably damaging 1.00
IGL02161:Dhx8 APN 11 101757606 missense probably damaging 1.00
IGL02691:Dhx8 APN 11 101752004 splice site probably benign
FR4304:Dhx8 UTSW 11 101738188 small insertion probably benign
FR4342:Dhx8 UTSW 11 101738206 frame shift probably null
FR4449:Dhx8 UTSW 11 101738184 small insertion probably benign
FR4449:Dhx8 UTSW 11 101738190 small deletion probably benign
FR4449:Dhx8 UTSW 11 101738194 small insertion probably benign
FR4449:Dhx8 UTSW 11 101738206 small insertion probably benign
FR4449:Dhx8 UTSW 11 101738207 small insertion probably benign
FR4589:Dhx8 UTSW 11 101738188 small insertion probably benign
FR4737:Dhx8 UTSW 11 101738179 small insertion probably benign
FR4737:Dhx8 UTSW 11 101738182 small insertion probably benign
FR4737:Dhx8 UTSW 11 101738189 small insertion probably benign
R0402:Dhx8 UTSW 11 101752397 missense probably damaging 1.00
R0525:Dhx8 UTSW 11 101763928 missense probably damaging 1.00
R0969:Dhx8 UTSW 11 101739700 splice site probably benign
R1497:Dhx8 UTSW 11 101735387 intron probably benign
R1576:Dhx8 UTSW 11 101752319 missense probably damaging 1.00
R1758:Dhx8 UTSW 11 101766738 missense probably damaging 1.00
R1773:Dhx8 UTSW 11 101752363 missense possibly damaging 0.87
R1941:Dhx8 UTSW 11 101752198 critical splice donor site probably null
R1954:Dhx8 UTSW 11 101753279 missense probably damaging 0.98
R2124:Dhx8 UTSW 11 101762245 missense probably damaging 0.99
R2128:Dhx8 UTSW 11 101738409 missense probably benign 0.06
R2148:Dhx8 UTSW 11 101738377 nonsense probably null
R2206:Dhx8 UTSW 11 101750971 missense probably benign 0.03
R2207:Dhx8 UTSW 11 101750971 missense probably benign 0.03
R4667:Dhx8 UTSW 11 101738161 missense unknown
R4678:Dhx8 UTSW 11 101739808 missense probably damaging 1.00
R4825:Dhx8 UTSW 11 101738170 nonsense probably null
R4943:Dhx8 UTSW 11 101737700 nonsense probably null
R5341:Dhx8 UTSW 11 101738190 small deletion probably benign
R5586:Dhx8 UTSW 11 101733036 unclassified probably benign
R5662:Dhx8 UTSW 11 101766758 missense possibly damaging 0.89
R5664:Dhx8 UTSW 11 101740751 missense probably damaging 1.00
R6082:Dhx8 UTSW 11 101764313 missense probably damaging 1.00
R6085:Dhx8 UTSW 11 101764313 missense probably damaging 1.00
R6415:Dhx8 UTSW 11 101737687 missense unknown
R6658:Dhx8 UTSW 11 101764922 missense probably damaging 1.00
R6841:Dhx8 UTSW 11 101764792 missense probably damaging 0.98
R6918:Dhx8 UTSW 11 101738421 nonsense probably null
R7011:Dhx8 UTSW 11 101741520 missense probably damaging 1.00
R7098:Dhx8 UTSW 11 101737768 critical splice donor site probably null
R7153:Dhx8 UTSW 11 101740175 intron probably null
R7284:Dhx8 UTSW 11 101754822 missense probably damaging 1.00
Posted On2015-04-16