Incidental Mutation 'R1951:Dhx36'
ID 217275
Institutional Source Beutler Lab
Gene Symbol Dhx36
Ensembl Gene ENSMUSG00000027770
Gene Name DEAH-box helicase 36
Synonyms 2810407E23Rik, Ddx36, RHAU
MMRRC Submission 039965-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1951 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 62375434-62414425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62391694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 551 (I551V)
Ref Sequence ENSEMBL: ENSMUSP00000029336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029336]
AlphaFold Q8VHK9
Predicted Effect probably damaging
Transcript: ENSMUST00000029336
AA Change: I551V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029336
Gene: ENSMUSG00000027770
AA Change: I551V

DomainStartEndE-ValueType
low complexity region 10 45 N/A INTRINSIC
DEXDc 198 389 1.53e-31 SMART
HELICc 495 600 5.61e-16 SMART
HA2 662 753 2.23e-26 SMART
Pfam:OB_NTP_bind 792 910 1.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162070
Meta Mutation Damage Score 0.2882 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 98% (84/86)
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 family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been shown to enhance the deadenylation and decay of mRNAs with 3'-UTR AU-rich elements (ARE-mRNA). The protein has also been shown to resolve into single strands the highly stable tetramolecular DNA configuration (G4) that can form spontaneously in guanine-rich regions of DNA. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality around E7.0. Mice homozygous for a conditional allele activated in the hematopoiesis systemexhibit impaired erythropoiesis associated with cell cycle defect. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 C T 7: 119,960,655 (GRCm39) R706C probably damaging Het
Adcy3 T C 12: 4,258,624 (GRCm39) F847S probably benign Het
Alyref C G 11: 120,486,758 (GRCm39) V168L probably damaging Het
Arhgap28 G A 17: 68,208,336 (GRCm39) A44V probably benign Het
Asap3 C T 4: 135,954,767 (GRCm39) R60* probably null Het
Baz1b T A 5: 135,245,593 (GRCm39) N347K probably benign Het
Best2 T A 8: 85,737,858 (GRCm39) N179I possibly damaging Het
Bfar C T 16: 13,519,970 (GRCm39) S276L probably damaging Het
Bloc1s3 A G 7: 19,241,483 (GRCm39) V15A possibly damaging Het
Borcs5 A G 6: 134,687,230 (GRCm39) H196R unknown Het
Calhm3 A G 19: 47,140,256 (GRCm39) L279P probably benign Het
Cand1 A T 10: 119,043,925 (GRCm39) probably benign Het
Car15 T C 16: 17,655,269 (GRCm39) D57G possibly damaging Het
Casp12 G A 9: 5,348,959 (GRCm39) probably null Het
Cd93 T C 2: 148,283,778 (GRCm39) T523A probably benign Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Ckap5 A G 2: 91,386,837 (GRCm39) probably benign Het
Col6a5 G A 9: 105,814,156 (GRCm39) R619W unknown Het
Colec12 G A 18: 9,859,975 (GRCm39) probably null Het
Crmp1 G A 5: 37,430,699 (GRCm39) V222I possibly damaging Het
Crnkl1 G A 2: 145,770,120 (GRCm39) A241V probably damaging Het
Ctbp2 A G 7: 132,616,756 (GRCm39) S60P probably benign Het
Cyp2c68 T C 19: 39,700,972 (GRCm39) Y282C probably benign Het
Dlg5 T A 14: 24,206,537 (GRCm39) probably benign Het
Dlgap1 A T 17: 71,068,306 (GRCm39) I300F probably damaging Het
Dmd T A X: 82,874,123 (GRCm39) I1342N probably damaging Het
Dnah6 T A 6: 73,061,704 (GRCm39) R2794* probably null Het
Fcgr1 G A 3: 96,194,386 (GRCm39) T167I probably damaging Het
Fgl1 G T 8: 41,650,387 (GRCm39) F187L probably benign Het
Fras1 T A 5: 96,860,242 (GRCm39) V2096E probably benign Het
Gm10647 A G 9: 66,705,762 (GRCm39) probably benign Het
Gm14226 G A 2: 154,866,255 (GRCm39) D71N possibly damaging Het
Grip2 A T 6: 91,760,829 (GRCm39) I284N probably damaging Het
Hirip3 A G 7: 126,462,038 (GRCm39) R19G probably damaging Het
Ift70b A G 2: 75,767,586 (GRCm39) L389P probably damaging Het
Irx5 A G 8: 93,086,438 (GRCm39) N174D probably damaging Het
Itgal A G 7: 126,929,317 (GRCm39) D1078G probably damaging Het
Khdc3 T C 9: 73,010,519 (GRCm39) V123A possibly damaging Het
Klhl13 A G X: 23,127,820 (GRCm39) probably benign Het
Klhl42 T C 6: 146,993,321 (GRCm39) S98P probably damaging Het
Lrp5 T C 19: 3,670,298 (GRCm39) N602S possibly damaging Het
Lrrd1 A T 5: 3,901,488 (GRCm39) I598F probably damaging Het
Ltbp1 A G 17: 75,458,372 (GRCm39) T318A probably benign Het
Mfsd6 A G 1: 52,748,517 (GRCm39) F116S probably damaging Het
Ncam1 T C 9: 49,456,492 (GRCm39) I486V probably benign Het
Nptx1 A G 11: 119,434,006 (GRCm39) probably null Het
Nrg1 T C 8: 32,408,221 (GRCm39) Y4C probably damaging Het
Nsf G A 11: 103,773,702 (GRCm39) R271* probably null Het
Or5d39 A G 2: 87,979,641 (GRCm39) S241P possibly damaging Het
Or8g24 T A 9: 38,989,580 (GRCm39) I154F probably benign Het
Or8k18 G C 2: 86,085,440 (GRCm39) T199S probably benign Het
Or8k21 T A 2: 86,145,504 (GRCm39) N42I probably damaging Het
Or8k24 A T 2: 86,215,855 (GRCm39) H302Q probably benign Het
Pax2 A G 19: 44,777,271 (GRCm39) T155A probably benign Het
Pdia4 A G 6: 47,780,813 (GRCm39) Y212H probably damaging Het
Pgr A G 9: 8,946,954 (GRCm39) probably benign Het
Pitpnm3 G T 11: 71,965,450 (GRCm39) H112N possibly damaging Het
Ppargc1b G T 18: 61,431,848 (GRCm39) T1000K possibly damaging Het
Psd3 C A 8: 68,416,139 (GRCm39) C586F probably benign Het
Ptprm A T 17: 67,247,575 (GRCm39) S587T probably benign Het
Rabep2 A T 7: 126,037,736 (GRCm39) R169S possibly damaging Het
Rad21l T C 2: 151,497,179 (GRCm39) R309G probably benign Het
Rbm12 T C 2: 155,939,133 (GRCm39) R380G probably damaging Het
Selp A G 1: 163,954,081 (GRCm39) N127S probably benign Het
Slc12a2 A G 18: 58,012,467 (GRCm39) T197A possibly damaging Het
Slc22a18 C T 7: 143,029,984 (GRCm39) T17I probably damaging Het
Sptbn4 T C 7: 27,065,868 (GRCm39) E2026G possibly damaging Het
Srf A T 17: 46,862,633 (GRCm39) M285K possibly damaging Het
Tanc1 T C 2: 59,622,156 (GRCm39) V425A possibly damaging Het
Tle4 A T 19: 14,493,721 (GRCm39) probably null Het
Tmem132e A G 11: 82,335,908 (GRCm39) R905G possibly damaging Het
Tmem200c A T 17: 69,147,983 (GRCm39) I189F probably damaging Het
Trappc13 T C 13: 104,311,150 (GRCm39) Q87R probably benign Het
Trpm7 A T 2: 126,673,219 (GRCm39) D511E probably damaging Het
Ttn A T 2: 76,632,634 (GRCm39) I14140N possibly damaging Het
Virma A G 4: 11,513,907 (GRCm39) D587G probably benign Het
Vmn1r72 A G 7: 11,403,731 (GRCm39) L239P probably damaging Het
Vmn2r68 A G 7: 84,883,102 (GRCm39) F217L probably damaging Het
Vps13c T C 9: 67,881,041 (GRCm39) probably null Het
Vrtn T C 12: 84,695,973 (GRCm39) V241A probably damaging Het
Xdh T C 17: 74,214,653 (GRCm39) E764G probably damaging Het
Zranb3 A T 1: 127,927,136 (GRCm39) V343D probably damaging Het
Other mutations in Dhx36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Dhx36 APN 3 62,377,979 (GRCm39) utr 3 prime probably benign
IGL00538:Dhx36 APN 3 62,408,466 (GRCm39) missense probably benign 0.04
IGL00706:Dhx36 APN 3 62,404,263 (GRCm39) missense probably damaging 1.00
IGL02040:Dhx36 APN 3 62,408,436 (GRCm39) missense probably benign
IGL02141:Dhx36 APN 3 62,401,310 (GRCm39) missense probably benign 0.25
IGL02514:Dhx36 APN 3 62,408,319 (GRCm39) missense possibly damaging 0.63
IGL02540:Dhx36 APN 3 62,414,309 (GRCm39) missense probably benign 0.07
IGL02629:Dhx36 APN 3 62,414,155 (GRCm39) missense probably benign 0.01
IGL02858:Dhx36 APN 3 62,384,797 (GRCm39) splice site probably benign
IGL03305:Dhx36 APN 3 62,408,257 (GRCm39) nonsense probably null
bundeswehr UTSW 3 62,386,747 (GRCm39) missense probably benign
R0002:Dhx36 UTSW 3 62,388,260 (GRCm39) missense probably damaging 1.00
R0002:Dhx36 UTSW 3 62,388,260 (GRCm39) missense probably damaging 1.00
R0021:Dhx36 UTSW 3 62,385,016 (GRCm39) missense possibly damaging 0.66
R0021:Dhx36 UTSW 3 62,385,016 (GRCm39) missense possibly damaging 0.66
R0671:Dhx36 UTSW 3 62,401,162 (GRCm39) missense possibly damaging 0.96
R0735:Dhx36 UTSW 3 62,380,150 (GRCm39) missense probably benign 0.00
R0782:Dhx36 UTSW 3 62,414,135 (GRCm39) splice site probably benign
R1725:Dhx36 UTSW 3 62,414,360 (GRCm39) start codon destroyed probably benign 0.01
R1959:Dhx36 UTSW 3 62,386,806 (GRCm39) missense probably benign 0.01
R2257:Dhx36 UTSW 3 62,385,064 (GRCm39) missense probably damaging 1.00
R2397:Dhx36 UTSW 3 62,405,518 (GRCm39) missense probably benign 0.00
R2484:Dhx36 UTSW 3 62,380,236 (GRCm39) missense probably damaging 0.96
R2973:Dhx36 UTSW 3 62,402,919 (GRCm39) missense possibly damaging 0.56
R2973:Dhx36 UTSW 3 62,402,916 (GRCm39) missense probably benign 0.00
R3617:Dhx36 UTSW 3 62,394,481 (GRCm39) missense probably benign 0.01
R3617:Dhx36 UTSW 3 62,379,428 (GRCm39) missense possibly damaging 0.96
R3725:Dhx36 UTSW 3 62,395,643 (GRCm39) splice site probably benign
R3898:Dhx36 UTSW 3 62,399,790 (GRCm39) missense probably damaging 0.98
R4332:Dhx36 UTSW 3 62,392,412 (GRCm39) missense probably damaging 1.00
R4359:Dhx36 UTSW 3 62,382,699 (GRCm39) missense probably benign 0.05
R4493:Dhx36 UTSW 3 62,395,925 (GRCm39) intron probably benign
R4652:Dhx36 UTSW 3 62,408,419 (GRCm39) missense probably benign 0.01
R4866:Dhx36 UTSW 3 62,380,198 (GRCm39) missense probably damaging 1.00
R4884:Dhx36 UTSW 3 62,391,681 (GRCm39) missense probably damaging 1.00
R4960:Dhx36 UTSW 3 62,404,280 (GRCm39) missense probably damaging 1.00
R5083:Dhx36 UTSW 3 62,379,420 (GRCm39) missense probably benign 0.17
R5162:Dhx36 UTSW 3 62,401,201 (GRCm39) missense probably damaging 1.00
R5815:Dhx36 UTSW 3 62,401,176 (GRCm39) missense probably damaging 1.00
R6090:Dhx36 UTSW 3 62,404,241 (GRCm39) missense probably damaging 0.98
R6392:Dhx36 UTSW 3 62,401,790 (GRCm39) missense probably benign 0.00
R6433:Dhx36 UTSW 3 62,392,395 (GRCm39) missense probably damaging 1.00
R6504:Dhx36 UTSW 3 62,396,060 (GRCm39) missense probably benign
R6615:Dhx36 UTSW 3 62,396,338 (GRCm39) missense probably benign
R6672:Dhx36 UTSW 3 62,408,300 (GRCm39) missense probably benign 0.00
R6672:Dhx36 UTSW 3 62,402,957 (GRCm39) missense probably damaging 1.00
R7172:Dhx36 UTSW 3 62,408,436 (GRCm39) missense probably benign
R7302:Dhx36 UTSW 3 62,386,814 (GRCm39) missense probably benign
R7487:Dhx36 UTSW 3 62,391,623 (GRCm39) missense possibly damaging 0.91
R7515:Dhx36 UTSW 3 62,379,508 (GRCm39) missense probably benign 0.45
R7531:Dhx36 UTSW 3 62,392,389 (GRCm39) missense probably damaging 1.00
R7579:Dhx36 UTSW 3 62,388,294 (GRCm39) missense possibly damaging 0.64
R7726:Dhx36 UTSW 3 62,396,389 (GRCm39) missense probably benign 0.01
R7874:Dhx36 UTSW 3 62,396,052 (GRCm39) missense probably benign
R8056:Dhx36 UTSW 3 62,396,012 (GRCm39) missense possibly damaging 0.93
R8226:Dhx36 UTSW 3 62,377,991 (GRCm39) missense probably benign 0.01
R8361:Dhx36 UTSW 3 62,388,221 (GRCm39) critical splice donor site probably null
R8529:Dhx36 UTSW 3 62,414,277 (GRCm39) small deletion probably benign
R8737:Dhx36 UTSW 3 62,386,747 (GRCm39) missense probably benign
R8947:Dhx36 UTSW 3 62,380,387 (GRCm39) missense probably benign
R9098:Dhx36 UTSW 3 62,414,142 (GRCm39) missense probably benign 0.00
R9098:Dhx36 UTSW 3 62,414,141 (GRCm39) nonsense probably null
R9209:Dhx36 UTSW 3 62,378,895 (GRCm39) missense probably benign 0.21
R9718:Dhx36 UTSW 3 62,379,466 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- AAGGCCCTGCACAGCATTTC -3'
(R):5'- AGAATGTGGCATGTGATCGAATC -3'

Sequencing Primer
(F):5'- ACAGCATTTCCTACTTACCTTCCAG -3'
(R):5'- GGAACACTGCCTATTGTCAGGTAC -3'
Posted On 2014-08-01