Incidental Mutation 'R2128:Dhx8'
ID 227755
Institutional Source Beutler Lab
Gene Symbol Dhx8
Ensembl Gene ENSMUSG00000034931
Gene Name DEAH-box helicase 8
Synonyms RNA helicase, Ddx8, mDEAH6
MMRRC Submission 040131-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R2128 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 101623782-101658184 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 101629235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 261 (D261E)
Ref Sequence ENSEMBL: ENSMUSP00000037251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039152] [ENSMUST00000129741]
AlphaFold A2A4P0
Predicted Effect probably benign
Transcript: ENSMUST00000039152
AA Change: D261E

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000037251
Gene: ENSMUSG00000034931
AA Change: D261E

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 noncoding transcript
Transcript: ENSMUST00000125409
Predicted Effect probably benign
Transcript: ENSMUST00000129741
AA Change: D208E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000119430
Gene: ENSMUSG00000034931
AA Change: D208E

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: ENSMUST00000156842
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,066,066 (GRCm39) E249G possibly damaging Het
2610028H24Rik A G 10: 76,293,349 (GRCm39) M136V possibly damaging Het
4930523C07Rik A T 1: 159,902,945 (GRCm39) K72* probably null Het
Abca6 A G 11: 110,110,475 (GRCm39) I558T probably benign Het
Acot10 T C 15: 20,666,712 (GRCm39) T10A probably benign Het
Adgrl4 T A 3: 151,205,838 (GRCm39) D233E probably benign Het
Adgrv1 A T 13: 81,705,199 (GRCm39) F1537Y probably damaging Het
Aqp3 T A 4: 41,098,061 (GRCm39) I17F probably benign Het
Arap1 T A 7: 101,058,527 (GRCm39) L1375H probably damaging Het
Aspm T C 1: 139,385,373 (GRCm39) V339A probably benign Het
Atp13a3 G A 16: 30,173,094 (GRCm39) A261V probably damaging Het
Casp8ap2 T C 4: 32,640,142 (GRCm39) Y399H probably benign Het
Cept1 A G 3: 106,420,195 (GRCm39) V213A probably damaging Het
Cit A G 5: 116,123,566 (GRCm39) D1469G possibly damaging Het
Cnga2 A G X: 71,051,394 (GRCm39) Y182C possibly damaging Het
Cox20 A G 1: 178,149,512 (GRCm39) I54V probably benign Het
Dnah2 A T 11: 69,349,011 (GRCm39) I2486N probably benign Het
Dnah5 A G 15: 28,408,467 (GRCm39) Q3484R probably benign Het
Drd1 T C 13: 54,207,572 (GRCm39) Y207C probably damaging Het
Dtl C T 1: 191,290,222 (GRCm39) V222I probably damaging Het
Dync1h1 T C 12: 110,607,316 (GRCm39) Y2636H probably damaging Het
Endog C A 2: 30,062,048 (GRCm39) D154E probably benign Het
Epc1 A T 18: 6,462,954 (GRCm39) V14E probably damaging Het
Ercc4 C A 16: 12,965,798 (GRCm39) T810K probably damaging Het
Fam43b T A 4: 138,123,299 (GRCm39) N7I possibly damaging Het
Fgd1 T C X: 149,869,213 (GRCm39) probably null Het
Filip1 G T 9: 79,726,612 (GRCm39) T669N probably damaging Het
Fndc1 A G 17: 7,997,497 (GRCm39) probably benign Het
Foxk1 C A 5: 142,420,943 (GRCm39) S189* probably null Het
Gatm T C 2: 122,431,017 (GRCm39) N274S probably damaging Het
Gdf9 A G 11: 53,328,334 (GRCm39) Y430C probably damaging Het
Gga1 C T 15: 78,772,648 (GRCm39) P260S probably damaging Het
Gm11595 A T 11: 99,663,327 (GRCm39) C118S unknown Het
Gm382 G T X: 125,970,274 (GRCm39) V820L possibly damaging Het
Gzmk T A 13: 113,308,548 (GRCm39) I179F probably damaging Het
Hsp90b1 T C 10: 86,531,570 (GRCm39) D421G probably damaging Het
Hus1 A G 11: 8,956,011 (GRCm39) M174T probably damaging Het
Ifngr2 T A 16: 91,359,761 (GRCm39) Y289* probably null Het
Il6st T A 13: 112,640,709 (GRCm39) H828Q probably benign Het
Impg2 T A 16: 56,038,742 (GRCm39) Y127N probably damaging Het
Irf3 T A 7: 44,651,168 (GRCm39) W345R probably damaging Het
Kif1b G A 4: 149,272,097 (GRCm39) S1568L possibly damaging Het
Klhl42 A G 6: 147,003,251 (GRCm39) T342A probably benign Het
Kndc1 G T 7: 139,510,025 (GRCm39) R1289L probably damaging Het
Knl1 A T 2: 118,902,300 (GRCm39) T1334S possibly damaging Het
L3mbtl3 G T 10: 26,189,766 (GRCm39) D499E unknown Het
Ldhd T A 8: 112,353,680 (GRCm39) M478L probably benign Het
Loxl4 C G 19: 42,592,402 (GRCm39) E385D probably damaging Het
Lrriq1 G A 10: 103,050,718 (GRCm39) T678I probably benign Het
Macf1 T A 4: 123,386,567 (GRCm39) I1017F probably benign Het
Madcam1 A G 10: 79,501,406 (GRCm39) E157G possibly damaging Het
Mamdc4 T C 2: 25,459,270 (GRCm39) D195G probably damaging Het
Mctp1 A G 13: 76,972,941 (GRCm39) D648G probably damaging Het
Mycbp2 T C 14: 103,438,666 (GRCm39) M2072V probably benign Het
Nck1 A G 9: 100,379,600 (GRCm39) probably null Het
Ndufaf4 G T 4: 24,898,608 (GRCm39) D55Y probably damaging Het
Nek11 A T 9: 105,177,560 (GRCm39) D230E probably benign Het
Nit2 T C 16: 56,981,559 (GRCm39) K67E possibly damaging Het
Or12j2 C T 7: 139,916,342 (GRCm39) T189M probably damaging Het
Or5ae1 T C 7: 84,565,701 (GRCm39) F238S probably damaging Het
Or6a2 T C 7: 106,600,455 (GRCm39) D204G probably damaging Het
Or6c1 A T 10: 129,518,401 (GRCm39) V69E possibly damaging Het
Pakap A G 4: 57,854,890 (GRCm39) Y134C probably benign Het
Pccb G C 9: 100,867,884 (GRCm39) D347E probably damaging Het
Plcl1 T A 1: 55,736,997 (GRCm39) F779L probably damaging Het
Prune2 C A 19: 17,099,786 (GRCm39) D1763E probably benign Het
Pwwp2a A G 11: 43,596,145 (GRCm39) S437G probably benign Het
Rabgap1l A T 1: 160,566,527 (GRCm39) D90E probably benign Het
Rapgef4 T A 2: 72,056,897 (GRCm39) I552N possibly damaging Het
Scn7a A T 2: 66,528,330 (GRCm39) I720K probably damaging Het
Scn9a T A 2: 66,356,998 (GRCm39) N1101I probably damaging Het
Siglec1 A T 2: 130,922,417 (GRCm39) Y553N probably damaging Het
Slc22a23 A G 13: 34,387,953 (GRCm39) L381P possibly damaging Het
Slc7a11 T A 3: 50,338,558 (GRCm39) T284S probably damaging Het
Slc8a2 T A 7: 15,874,417 (GRCm39) probably null Het
Snx29 T A 16: 11,218,835 (GRCm39) S224T probably damaging Het
Stimate T C 14: 30,588,581 (GRCm39) Y103H probably damaging Het
Stox1 T C 10: 62,500,314 (GRCm39) T749A probably benign Het
Tg A G 15: 66,566,743 (GRCm39) I1264V probably benign Het
Top2a A C 11: 98,900,633 (GRCm39) V609G probably damaging Het
Trmt44 G A 5: 35,732,176 (GRCm39) P72S probably benign Het
Ttll3 G C 6: 113,389,895 (GRCm39) S760T probably benign Het
Ttn T C 2: 76,579,022 (GRCm39) D23957G probably damaging Het
Ttn G A 2: 76,664,241 (GRCm39) probably benign Het
Ubxn1 T G 19: 8,849,434 (GRCm39) V59G probably benign Het
Ubxn4 T C 1: 128,172,247 (GRCm39) S14P probably benign Het
Uso1 T A 5: 92,343,229 (GRCm39) M771K probably benign Het
Utp20 A G 10: 88,649,917 (GRCm39) F431S probably damaging Het
Vmn1r206 T C 13: 22,804,782 (GRCm39) S142G probably benign Het
Vmn2r19 A G 6: 123,285,289 (GRCm39) probably null Het
Vps36 G T 8: 22,708,305 (GRCm39) probably null Het
Wnt3 A G 11: 103,703,474 (GRCm39) H319R possibly damaging Het
Zbtb26 G T 2: 37,326,563 (GRCm39) Q158K probably benign Het
Zfp648 T C 1: 154,080,353 (GRCm39) S171P 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
R1576:Dhx8 UTSW 11 101,643,145 (GRCm39) missense probably damaging 1.00
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
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'- TACGGAGTGACACTGTCCTG -3'
(R):5'- TGATGTGAAAGAGTGTCAGCC -3'

Sequencing Primer
(F):5'- AGTGACACTGTCCTGGGTGC -3'
(R):5'- AGAGTGTCAGCCATTACCTTAGGC -3'
Posted On 2014-09-17