Incidental Mutation 'R2206:Dhx8'
ID 239064
Institutional Source Beutler Lab
Gene Symbol Dhx8
Ensembl Gene ENSMUSG00000034931
Gene Name DEAH-box helicase 8
Synonyms RNA helicase, Ddx8, mDEAH6
MMRRC Submission 040208-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R2206 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 101623782-101658184 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101641797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 632 (T632A)
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: T632A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000037251
Gene: ENSMUSG00000034931
AA Change: T632A

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 benign
Transcript: ENSMUST00000129741
AA Change: T579A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000119430
Gene: ENSMUSG00000034931
AA Change: T579A

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,964,331 (GRCm39) C24S probably benign Het
2410137M14Rik A G 17: 37,288,965 (GRCm39) probably benign Het
Abhd18 G A 3: 40,865,008 (GRCm39) G83D probably benign Het
Adam34 T C 8: 44,105,274 (GRCm39) I124V probably benign Het
Adck2 A G 6: 39,560,773 (GRCm39) D123G probably damaging Het
Arhgef2 A G 3: 88,537,221 (GRCm39) E37G probably damaging Het
Axl T C 7: 25,470,061 (GRCm39) Y466C probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bpifb9a A T 2: 154,106,161 (GRCm39) probably null Het
Brip1 A G 11: 85,952,703 (GRCm39) V1026A probably benign Het
Cacna1h A T 17: 25,603,987 (GRCm39) S1282T probably benign Het
Calcr T C 6: 3,717,133 (GRCm39) Y109C probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cst13 A T 2: 148,665,202 (GRCm39) R66W probably damaging Het
Cstf2t A G 19: 31,061,175 (GRCm39) N237S probably benign Het
Disp2 G T 2: 118,622,725 (GRCm39) Q1152H probably benign Het
Dlg1 A G 16: 31,672,664 (GRCm39) H599R probably benign Het
Dmxl1 T C 18: 50,027,161 (GRCm39) S2090P probably benign Het
Dnajc13 C G 9: 104,080,717 (GRCm39) V821L probably damaging Het
Dop1a T A 9: 86,403,652 (GRCm39) H1617Q probably benign Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
Ephb4 T C 5: 137,355,981 (GRCm39) C197R probably damaging Het
Foxn1 C A 11: 78,249,630 (GRCm39) A632S probably benign Het
Fpr3 A C 17: 18,190,908 (GRCm39) T60P probably damaging Het
Gja4 A T 4: 127,206,410 (GRCm39) S118T probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Itfg1 A T 8: 86,502,827 (GRCm39) S246R probably benign Het
Kazn A T 4: 141,845,603 (GRCm39) probably null Het
Mdn1 T C 4: 32,716,271 (GRCm39) L2111P possibly damaging Het
Myo6 A G 9: 80,165,737 (GRCm39) Y374C probably benign Het
Odad2 C A 18: 7,223,676 (GRCm39) G456W probably benign Het
Or1a1 G T 11: 74,087,150 (GRCm39) V274L possibly damaging Het
Or1j16 G T 2: 36,530,201 (GRCm39) R50M possibly damaging Het
Or5b99 A G 19: 12,976,404 (GRCm39) D18G probably benign Het
Or9m1b A G 2: 87,836,579 (GRCm39) V181A probably benign Het
Pcdhb15 A T 18: 37,608,075 (GRCm39) T436S probably benign Het
Pcdhb18 T A 18: 37,624,342 (GRCm39) N557K probably damaging Het
Pcdhb6 T C 18: 37,468,633 (GRCm39) M518T probably benign Het
Pcmtd1 A T 1: 7,239,807 (GRCm39) I83L probably benign Het
Pitrm1 T A 13: 6,619,327 (GRCm39) Y721N probably damaging Het
Prcp C T 7: 92,577,820 (GRCm39) T328I probably damaging Het
Psg27 C A 7: 18,301,036 (GRCm39) E6* probably null Het
Pth1r T A 9: 110,552,655 (GRCm39) E465V probably damaging Het
Pus7l T C 15: 94,421,471 (GRCm39) Y613C probably damaging Het
Rsl1 A G 13: 67,330,892 (GRCm39) T447A probably benign Het
Setd3 C T 12: 108,073,544 (GRCm39) V578M probably benign Het
Slc10a1 T C 12: 81,014,402 (GRCm39) N106S probably damaging Het
Slc29a3 T C 10: 60,551,686 (GRCm39) M453V possibly damaging Het
Slc4a8 T C 15: 100,705,326 (GRCm39) V844A probably damaging Het
Sorcs1 T C 19: 50,218,655 (GRCm39) H609R possibly damaging Het
Spata31d1e A G 13: 59,890,920 (GRCm39) V300A probably benign Het
Tmppe C G 9: 114,234,640 (GRCm39) P313R probably benign Het
Tnxb A C 17: 34,928,391 (GRCm39) T2602P possibly damaging Het
Trip11 T C 12: 101,839,701 (GRCm39) N1643S probably benign Het
Trmt1l T C 1: 151,311,594 (GRCm39) probably null Het
Vmn1r177 A T 7: 23,565,556 (GRCm39) C107S probably damaging Het
Vmn1r225 A G 17: 20,722,611 (GRCm39) I17M possibly damaging Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Wdr7 T A 18: 63,910,678 (GRCm39) V690E possibly damaging Het
Xaf1 A T 11: 72,194,228 (GRCm39) E36D possibly damaging Het
Zbtb40 G A 4: 136,744,596 (GRCm39) Q275* probably null Het
Zfp513 T G 5: 31,357,767 (GRCm39) K202T probably damaging 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
R2128:Dhx8 UTSW 11 101,629,235 (GRCm39) missense probably benign 0.06
R2148:Dhx8 UTSW 11 101,629,203 (GRCm39) nonsense probably null
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'- TGAGCTACATTTCCCCAGCC -3'
(R):5'- ATGAAAATCTGCCTCCTTTGGG -3'

Sequencing Primer
(F):5'- ACCAGGTCTTCTATGAGAGTCCAG -3'
(R):5'- TCCTTTGGGAGAAATCTAAAAAGATG -3'
Posted On 2014-10-02