Incidental Mutation 'FR4449:Dhx8'
ID 511522
Institutional Source Beutler Lab
Gene Symbol Dhx8
Ensembl Gene ENSMUSG00000034931
Gene Name DEAH-box helicase 8
Synonyms RNA helicase, Ddx8, mDEAH6
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # FR4449 ()
Quality Score 217.468
Status Not validated
Chromosome 11
Chromosomal Location 101623782-101658184 bp(+) (GRCm39)
Type of Mutation small insertion (2 aa in frame mutation)
DNA Base Change (assembly) G to GAGACCC at 101629033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039152] [ENSMUST00000129741]
AlphaFold A2A4P0
Predicted Effect probably benign
Transcript: ENSMUST00000039152
SMART Domains Protein: ENSMUSP00000037251
Gene: ENSMUSG00000034931

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
SMART Domains Protein: ENSMUSP00000119430
Gene: ENSMUSG00000034931

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: 99.7%
  • 3x: 99.5%
  • 10x: 98.3%
  • 20x: 95.8%
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: 124 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 GGTATTGCATTTCTTATCT G 5: 4,031,214 (GRCm39) probably benign Homo
Amfr C G 8: 94,731,787 (GRCm39) G30R probably damaging Homo
Anxa7 C T 14: 20,519,479 (GRCm39) G113E probably damaging Homo
Apc AGC AGCCAATAACGC 18: 34,415,058 (GRCm39) probably benign Het
Apc AATAAAGC AATAAAGCCGATAAAGC 18: 34,415,053 (GRCm39) probably benign Het
Apol6 TTT TTTGATT 15: 76,935,643 (GRCm39) probably null Homo
Arid1b CGG CGGTGG 17: 5,045,864 (GRCm39) probably benign Het
B430218F22Rik CGGCG CGGCGATGGCG 13: 118,523,387 (GRCm39) probably benign Homo
Blm CCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCT 7: 80,162,656 (GRCm39) probably benign Het
Brd2 CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA CAAAAAAAAAAAAAAA 17: 34,335,310 (GRCm39) probably benign Het
Btnl10 AAG AAGGAG 11: 58,814,754 (GRCm39) probably benign Homo
Cacna1a ACC ACCCCC 8: 85,365,343 (GRCm39) probably benign Het
Cacna1a ACC ACCGCC 8: 85,365,352 (GRCm39) probably benign Het
Cacna1a ACC ACCCCC 8: 85,365,349 (GRCm39) probably benign Het
Calhm1 TGGC TGGCTGTGGCTGCGGC 19: 47,129,713 (GRCm39) probably benign Het
Ccdc15 C CTTTAT 9: 37,226,454 (GRCm39) probably null Het
Ccdc85c CCG CCGACG 12: 108,240,875 (GRCm39) probably benign Het
Ccnk TTCCCAC T 12: 108,168,766 (GRCm39) probably benign Het
Cdhr2 AGTC AGTCGTC 13: 54,873,737 (GRCm39) probably benign Homo
Cdk15 A ATCTAAAAGG 1: 59,296,982 (GRCm39) probably benign Homo
Cdx1 GCTG GCTGCTCCTG 18: 61,152,953 (GRCm39) probably benign Het
Cfap46 T C 7: 139,218,711 (GRCm39) probably benign Homo
Cgref1 TTC TTCGTC 5: 31,091,120 (GRCm39) probably benign Het
Cgref1 CTT CTTATT 5: 31,091,122 (GRCm39) probably null Homo
Cluh G GACTGAA 11: 74,560,358 (GRCm39) probably benign Het
Cntnap1 AGCCCC AGCCCCCGCCCC 11: 101,080,395 (GRCm39) probably benign Het
Cntnap1 AGCC AGCCCCCGCC 11: 101,080,419 (GRCm39) probably benign Het
Cpne1 CCTACT CCT 2: 155,915,422 (GRCm39) probably benign Homo
Cracdl T A 1: 37,664,116 (GRCm39) E594V probably benign Homo
Cracdl C A 1: 37,664,117 (GRCm39) E594* probably null Homo
Cttnbp2 CTGCTG CTGCTGTTGCTG 6: 18,367,461 (GRCm39) probably benign Het
Cul9 TCC TCCGCC 17: 46,811,782 (GRCm39) probably benign Het
Dbr1 AGGAGG AGGAGGGGGAGG 9: 99,465,727 (GRCm39) probably benign Het
Dbr1 AGGAGG AGGAGGCGGAGG 9: 99,465,739 (GRCm39) probably benign Het
Dbr1 GGAGGA GGAGGAAGAGGA 9: 99,465,749 (GRCm39) probably benign Het
Dspp CGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG CGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG 5: 104,326,254 (GRCm39) probably benign Het
Dusp10 G T 1: 183,769,253 (GRCm39) C73F probably damaging Homo
Erich3 GA GAGAA 3: 154,469,150 (GRCm39) probably benign Homo
Ermn CTT CTTGTT 2: 57,938,086 (GRCm39) probably benign Het
Fgd6 GGAT G 10: 93,880,182 (GRCm39) probably benign Homo
G530012D18Rik GAGAGAGAGAGAGAGAGACAGAGA GAGAGA 1: 85,504,901 (GRCm39) probably benign Homo
Gar1 GCCGCCTCCGCC GCCGCC 3: 129,624,353 (GRCm39) probably benign Homo
Gatad2b AGAC A 3: 90,249,224 (GRCm39) probably benign Het
Gigyf2 C T 1: 87,356,307 (GRCm39) probably benign Het
Gm16519 A AGAT 17: 71,236,333 (GRCm39) probably benign Homo
Gm4340 AGC AGCGGC 10: 104,031,946 (GRCm39) probably benign Het
Gm4340 GCA GCATCA 10: 104,031,947 (GRCm39) probably benign Het
Gm4340 AGC AGCGGC 10: 104,031,943 (GRCm39) probably benign Het
Gpatch11 AGGAAG AGGAAGCGGAAG 17: 79,149,597 (GRCm39) probably benign Het
Gpatch11 GAAGAG GAAGAGCAAGAG 17: 79,149,605 (GRCm39) probably benign Het
Gpatch11 GG GGCAGACG 17: 79,149,610 (GRCm39) probably benign Het
Hoxa10 T A 6: 52,211,166 (GRCm39) Q250L possibly damaging Homo
Igkv12-89 GCA GCAGCAGCAACA 6: 68,812,264 (GRCm39) probably benign Homo
Igsf10 G A 3: 59,226,531 (GRCm39) R2381C probably damaging Homo
Il17rd GGC GGCAGC 14: 26,804,635 (GRCm39) probably benign Het
Ints5 G A 19: 8,874,594 (GRCm39) R851Q probably benign Het
Isg20l2 AGA AGAGGA 3: 87,839,020 (GRCm39) probably benign Het
Kcng4 G T 8: 120,360,258 (GRCm39) Y39* probably null Homo
Kifc5b A C 17: 27,143,191 (GRCm39) E321A probably benign Het
Klra2 TCCACAG TCCACAGAAACCCACAG 6: 131,198,809 (GRCm39) probably null Homo
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,285,794 (GRCm39) probably benign Het
Kmt2b CCTCCT CCTCCTGCTCCT 7: 30,285,786 (GRCm39) probably benign Het
Kmt2b TCCTCC TCCTCCACCTCC 7: 30,285,791 (GRCm39) probably benign Het
Krt10 ACC ACCACCTCC 11: 99,280,093 (GRCm39) probably benign Het
Las1l GA GAGAA X: 94,984,438 (GRCm39) probably benign Het
Lce1m AC ACTGCTGCTGCCGC 3: 92,925,459 (GRCm39) probably benign Het
Leo1 GTACCATGCA G 9: 75,357,855 (GRCm39) probably benign Het
Lkaaear1 CA CATCTCCAGCTCTA 2: 181,339,364 (GRCm39) probably benign Het
Maml2 ACAGCAGCAGCAACAGCAGCAGCAGCAGCA ACAGCAACAGCAGCAGCAGCAGCA 9: 13,532,752 (GRCm39) probably benign Homo
Med12l CAG CAGTAG 3: 59,183,384 (GRCm39) probably null Het
Mgat4e GTCGTAGTCATCGT GTCGT 1: 134,468,735 (GRCm39) probably benign Homo
Mn1 GCA GCAACA 5: 111,567,576 (GRCm39) probably benign Het
Morn4 AGGCAGTGAG AGGCAGTGAGTCTGGCAGTGAG 19: 42,064,548 (GRCm39) probably benign Het
Nat8f2 T A 6: 85,844,668 (GRCm39) L231F possibly damaging Homo
Noc2l C CTGA 4: 156,324,558 (GRCm39) probably benign Het
Nrg3 T TAGACAC 14: 38,119,228 (GRCm39) probably benign Het
Or8b41 A G 9: 38,054,484 (GRCm39) I13V probably benign Homo
Piezo1 G A 8: 123,222,308 (GRCm39) R503W probably damaging Homo
Pih1d2 CTCTTGCGAGGATC CTC 9: 50,532,927 (GRCm39) probably null Homo
Pik3ap1 G GGAA 19: 41,270,385 (GRCm39) probably benign Het
Ppp1r3f C A X: 7,426,575 (GRCm39) G562V probably damaging Homo
Ptms TTC TTCGTC 6: 124,891,422 (GRCm39) probably benign Het
Ptpn23 G T 9: 110,216,701 (GRCm39) P1052T probably benign Homo
Qrich2 AACT A 11: 116,347,025 (GRCm39) probably benign Homo
Raet1d A ATATCCTCTCTGG 10: 22,246,814 (GRCm39) probably benign Het
Rbm33 AGCAGCAGCAGCACCAGCCGCAGCAGCAGCA AGCAGCAGCAGCA 5: 28,599,166 (GRCm39) probably benign Homo
Rrbp1 TGCTTCTCAAAGGTGGCTGCCTTGGCTTC TGCTTC 2: 143,809,376 (GRCm39) probably null Het
Sbp CAACAAAGATGCTGA CAACAAAGATGCTGAGAACAAAGATGCTGA 17: 24,164,338 (GRCm39) probably benign Het
Setd1a G A 7: 127,384,498 (GRCm39) probably benign Het
Sfswap CCCACTCAG CCCACTCAGTCCACTCAG 5: 129,646,812 (GRCm39) probably benign Het
Sfswap CCACTCAGC CCACTCAGCTCACTCAGC 5: 129,646,813 (GRCm39) probably benign Het
Sh3pxd2b T TGTCTGC 11: 32,373,065 (GRCm39) probably benign Homo
Six3 CGG CGGGGG 17: 85,928,790 (GRCm39) probably benign Het
Slc12a1 C CTTTGGCCACAACACG 2: 124,996,136 (GRCm39) probably benign Homo
Slc26a8 CTCTCTG C 17: 28,857,290 (GRCm39) probably benign Het
Spata31h1 TTCAGT TT 10: 82,121,303 (GRCm39) probably null Homo
Srebf2 G T 15: 82,069,536 (GRCm39) A693S probably damaging Homo
Sry ACTG ACTGCTG Y: 2,662,818 (GRCm39) probably benign Het
Sry TGCTG TGCTGCTG Y: 2,662,832 (GRCm39) probably benign Homo
Ston1 G A 17: 88,942,953 (GRCm39) V120M probably benign Homo
Supt20 CAGCAG CAGCAGGAGCAG 3: 54,635,070 (GRCm39) probably benign Het
Tbl3 TG TGTGG 17: 24,921,518 (GRCm39) probably benign Homo
Tctn3 AG AGAAGCCG 19: 40,595,646 (GRCm39) probably benign Het
Tesk1 CCC CCCACC 4: 43,447,002 (GRCm39) probably benign Homo
Tmc2 T G 2: 130,082,116 (GRCm39) V433G probably damaging Het
Tmprss13 G A 9: 45,239,856 (GRCm39) A55T unknown Het
Tnfaip8 ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC AC 18: 50,179,906 (GRCm39) probably null Homo
Tob1 CAG CAGAAG 11: 94,105,294 (GRCm39) probably benign Het
Tob1 AGC AGCCGC 11: 94,105,301 (GRCm39) probably benign Het
Tpsab1 TTGCACCTCCT TT 17: 25,562,756 (GRCm39) probably benign Homo
Triobp GTC GTCTTC 15: 78,877,589 (GRCm39) probably benign Het
Ubtf CCT CCTACT 11: 102,197,774 (GRCm39) probably null Het
Vps13b G T 15: 35,847,103 (GRCm39) A2629S probably damaging Homo
Xpnpep3 G C 15: 81,311,623 (GRCm39) D110H possibly damaging Het
Zc3h13 CGAGATGTG CGAGATGTGTGAGATGTG 14: 75,561,041 (GRCm39) probably null Homo
Zfhx3 GCAACAGCA GCAACAGCAACAACAGCA 8: 109,682,726 (GRCm39) probably benign Homo
Zfp26 C A 9: 20,349,842 (GRCm39) A241S probably benign Homo
Zfp335 CTC CTCATC 2: 164,749,397 (GRCm39) probably benign Het
Zfp335 CTCT CTCTTCT 2: 164,749,403 (GRCm39) probably benign Het
Zfp598 ACCACC ACCACCTCCACC 17: 24,899,750 (GRCm39) probably benign Het
Zfp598 ACCACC ACCACCCCCACC 17: 24,899,759 (GRCm39) probably benign Het
Zfp831 TCC TCCACC 2: 174,487,264 (GRCm39) probably benign Het
Zfp831 CTC CTCGTC 2: 174,487,275 (GRCm39) probably benign Het
Zfp978 G T 4: 147,475,401 (GRCm39) S316I 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 11 101,629,010 (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
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'- ATGTCATTACTGGCCTGTGG -3'
(R):5'- AGGGACTCTGACTTCTGCTC -3'

Sequencing Primer
(F):5'- AGGTTCCTAGCTCATACGGAG -3'
(R):5'- GGACTCTGACTTCTGCTCCTAGATC -3'
Posted On 2018-04-05