Incidental Mutation 'R1576:Dhx8'
ID 171176
Institutional Source Beutler Lab
Gene Symbol Dhx8
Ensembl Gene ENSMUSG00000034931
Gene Name DEAH-box helicase 8
Synonyms RNA helicase, Ddx8, mDEAH6
MMRRC Submission 039614-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R1576 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 101623782-101658184 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101643145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 739 (V739A)
Ref Sequence ENSEMBL: ENSMUSP00000037251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039152] [ENSMUST00000129741]
AlphaFold A2A4P0
Predicted Effect probably damaging
Transcript: ENSMUST00000039152
AA Change: V739A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037251
Gene: ENSMUSG00000034931
AA Change: V739A

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: V686A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119430
Gene: ENSMUSG00000034931
AA Change: V686A

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
Meta Mutation Damage Score 0.7569 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.1%
Validation Efficiency 100% (49/49)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3m2 G A 8: 23,298,483 (GRCm39) probably benign Het
Apol11a T A 15: 77,401,131 (GRCm39) I206N probably damaging Het
Arfgap3 A G 15: 83,197,764 (GRCm39) S331P possibly damaging Het
Arhgef16 A C 4: 154,375,769 (GRCm39) L75R probably damaging Het
Cfi T C 3: 129,666,699 (GRCm39) V474A probably damaging Het
Dpy19l2 T A 9: 24,495,798 (GRCm39) H640L probably benign Het
Eif4g3 T A 4: 137,824,181 (GRCm39) M57K probably damaging Het
Emilin2 A G 17: 71,562,112 (GRCm39) probably null Het
Epc1 T C 18: 6,452,366 (GRCm39) E281G possibly damaging Het
Fancd2 G T 6: 113,555,366 (GRCm39) S1125I probably damaging Het
Fh1 G A 1: 175,435,385 (GRCm39) P366L probably null Het
Gata3 A T 2: 9,868,007 (GRCm39) S316T probably damaging Het
Hmcn1 A T 1: 150,532,992 (GRCm39) S3064T possibly damaging Het
Inpp5d A T 1: 87,597,407 (GRCm39) T193S probably benign Het
Inpp5d A T 1: 87,609,280 (GRCm39) I277F probably damaging Het
Itga5 T C 15: 103,260,044 (GRCm39) D616G probably damaging Het
Jade1 T A 3: 41,546,242 (GRCm39) V89E probably damaging Het
Lamb2 T C 9: 108,357,506 (GRCm39) S81P probably damaging Het
Lrrc19 G A 4: 94,527,590 (GRCm39) P207L probably damaging Het
Maea A G 5: 33,520,040 (GRCm39) D147G probably damaging Het
Muc6 T A 7: 141,214,437 (GRCm39) E2767V possibly damaging Het
Myom2 A G 8: 15,134,556 (GRCm39) Y453C probably damaging Het
Naip2 G A 13: 100,291,537 (GRCm39) probably benign Het
Naip2 A T 13: 100,291,529 (GRCm39) D1136E probably benign Het
Nap1l1 A G 10: 111,330,681 (GRCm39) D362G probably damaging Het
Nap1l4 C T 7: 143,091,953 (GRCm39) probably null Het
Nudt21 A C 8: 94,755,461 (GRCm39) probably null Het
Nufip1 A G 14: 76,372,310 (GRCm39) N475D probably benign Het
Pcdhb8 A G 18: 37,489,756 (GRCm39) D478G probably damaging Het
Pla2g4d A G 2: 120,114,648 (GRCm39) S28P probably damaging Het
Polr2j C A 5: 136,148,882 (GRCm39) N29K probably damaging Het
Ppp2r2a A G 14: 67,276,318 (GRCm39) probably benign Het
Ptprk A G 10: 28,427,647 (GRCm39) D742G probably damaging Het
Pum2 A G 12: 8,763,524 (GRCm39) D227G probably benign Het
Rfxank C A 8: 70,586,953 (GRCm39) R221L possibly damaging Het
Shank3 C A 15: 89,387,866 (GRCm39) Q317K probably benign Het
Slc22a17 A G 14: 55,145,447 (GRCm39) V460A probably damaging Het
Slc39a11 G T 11: 113,450,361 (GRCm39) D41E probably damaging Het
Spag17 T C 3: 99,846,679 (GRCm39) S68P possibly damaging Het
Sstr5 C T 17: 25,710,272 (GRCm39) C319Y possibly damaging Het
Stk17b G T 1: 53,796,749 (GRCm39) D339E probably damaging Het
Tagln2 A G 1: 172,332,788 (GRCm39) D25G probably benign Het
Ttn C T 2: 76,625,194 (GRCm39) V13417I probably benign Het
Vps50 A G 6: 3,545,568 (GRCm39) E334G possibly damaging Het
Zfp316 T C 5: 143,249,849 (GRCm39) E138G unknown Het
Zfp879 T A 11: 50,724,376 (GRCm39) T227S probably benign Het
Other mutations in Dhx8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01922:Dhx8 APN 11 101,630,633 (GRCm39) missense probably damaging 0.99
IGL01957:Dhx8 APN 11 101,645,652 (GRCm39) missense possibly damaging 0.48
IGL02039:Dhx8 APN 11 101,654,853 (GRCm39) critical splice donor site probably null
IGL02115:Dhx8 APN 11 101,643,214 (GRCm39) missense probably damaging 1.00
IGL02161:Dhx8 APN 11 101,648,432 (GRCm39) missense probably damaging 1.00
IGL02691:Dhx8 APN 11 101,642,830 (GRCm39) splice site probably benign
IGL02697:Dhx8 APN 11 101,645,607 (GRCm39) missense probably damaging 1.00
FR4304:Dhx8 UTSW 11 101,629,014 (GRCm39) small insertion probably benign
FR4342:Dhx8 UTSW 11 101,629,032 (GRCm39) frame shift probably null
FR4449:Dhx8 UTSW 11 101,629,020 (GRCm39) small insertion probably benign
FR4449:Dhx8 UTSW 11 101,629,032 (GRCm39) small insertion probably benign
FR4449:Dhx8 UTSW 11 101,629,033 (GRCm39) small insertion probably benign
FR4449:Dhx8 UTSW 11 101,629,010 (GRCm39) small insertion probably benign
FR4449:Dhx8 UTSW 11 101,629,016 (GRCm39) small deletion probably benign
FR4589:Dhx8 UTSW 11 101,629,014 (GRCm39) small insertion probably benign
FR4737:Dhx8 UTSW 11 101,629,015 (GRCm39) small insertion probably benign
FR4737:Dhx8 UTSW 11 101,629,005 (GRCm39) small insertion probably benign
FR4737:Dhx8 UTSW 11 101,629,008 (GRCm39) small insertion probably benign
R0402:Dhx8 UTSW 11 101,643,223 (GRCm39) missense probably damaging 1.00
R0525:Dhx8 UTSW 11 101,654,754 (GRCm39) missense probably damaging 1.00
R0969:Dhx8 UTSW 11 101,630,526 (GRCm39) splice site probably benign
R1497:Dhx8 UTSW 11 101,626,213 (GRCm39) intron probably benign
R1758:Dhx8 UTSW 11 101,657,564 (GRCm39) missense probably damaging 1.00
R1773:Dhx8 UTSW 11 101,643,189 (GRCm39) missense possibly damaging 0.87
R1941:Dhx8 UTSW 11 101,643,024 (GRCm39) critical splice donor site probably null
R1954:Dhx8 UTSW 11 101,644,105 (GRCm39) missense probably damaging 0.98
R2124:Dhx8 UTSW 11 101,653,071 (GRCm39) missense probably damaging 0.99
R2128:Dhx8 UTSW 11 101,629,235 (GRCm39) missense probably benign 0.06
R2148:Dhx8 UTSW 11 101,629,203 (GRCm39) nonsense probably null
R2206:Dhx8 UTSW 11 101,641,797 (GRCm39) missense probably benign 0.03
R2207:Dhx8 UTSW 11 101,641,797 (GRCm39) missense probably benign 0.03
R4667:Dhx8 UTSW 11 101,628,987 (GRCm39) missense unknown
R4678:Dhx8 UTSW 11 101,630,634 (GRCm39) missense probably damaging 1.00
R4825:Dhx8 UTSW 11 101,628,996 (GRCm39) nonsense probably null
R4943:Dhx8 UTSW 11 101,628,526 (GRCm39) nonsense probably null
R5341:Dhx8 UTSW 11 101,629,016 (GRCm39) small deletion probably benign
R5586:Dhx8 UTSW 11 101,623,862 (GRCm39) unclassified probably benign
R5662:Dhx8 UTSW 11 101,657,584 (GRCm39) missense possibly damaging 0.89
R5664:Dhx8 UTSW 11 101,631,577 (GRCm39) missense probably damaging 1.00
R6082:Dhx8 UTSW 11 101,655,139 (GRCm39) missense probably damaging 1.00
R6085:Dhx8 UTSW 11 101,655,139 (GRCm39) missense probably damaging 1.00
R6415:Dhx8 UTSW 11 101,628,513 (GRCm39) missense unknown
R6658:Dhx8 UTSW 11 101,655,748 (GRCm39) missense probably damaging 1.00
R6841:Dhx8 UTSW 11 101,655,618 (GRCm39) missense probably damaging 0.98
R6918:Dhx8 UTSW 11 101,629,247 (GRCm39) nonsense probably null
R7011:Dhx8 UTSW 11 101,632,346 (GRCm39) missense probably damaging 1.00
R7098:Dhx8 UTSW 11 101,628,594 (GRCm39) critical splice donor site probably null
R7153:Dhx8 UTSW 11 101,631,001 (GRCm39) splice site probably null
R7284:Dhx8 UTSW 11 101,645,648 (GRCm39) missense probably damaging 1.00
R7604:Dhx8 UTSW 11 101,655,623 (GRCm39) missense probably damaging 1.00
R8135:Dhx8 UTSW 11 101,629,090 (GRCm39) missense unknown
R8137:Dhx8 UTSW 11 101,654,808 (GRCm39) missense probably damaging 1.00
R8256:Dhx8 UTSW 11 101,631,588 (GRCm39) missense possibly damaging 0.93
R8284:Dhx8 UTSW 11 101,648,455 (GRCm39) missense probably damaging 1.00
R8289:Dhx8 UTSW 11 101,631,571 (GRCm39) missense probably benign 0.01
R8696:Dhx8 UTSW 11 101,623,958 (GRCm39) missense unknown
R9061:Dhx8 UTSW 11 101,632,406 (GRCm39) missense possibly damaging 0.61
R9076:Dhx8 UTSW 11 101,629,021 (GRCm39) missense
R9443:Dhx8 UTSW 11 101,655,740 (GRCm39) missense probably damaging 1.00
R9492:Dhx8 UTSW 11 101,654,808 (GRCm39) missense possibly damaging 0.67
R9554:Dhx8 UTSW 11 101,645,614 (GRCm39) nonsense probably null
R9700:Dhx8 UTSW 11 101,624,015 (GRCm39) critical splice donor site probably null
R9780:Dhx8 UTSW 11 101,632,403 (GRCm39) missense possibly damaging 0.73
Z1177:Dhx8 UTSW 11 101,648,486 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTAAGAGAGTGCCTGATTGACCC -3'
(R):5'- CTCTGTCAGATGGATCTGCATGACC -3'

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