Incidental Mutation 'R7531:Dhx36'
ID 583298
Institutional Source Beutler Lab
Gene Symbol Dhx36
Ensembl Gene ENSMUSG00000027770
Gene Name DEAH-box helicase 36
Synonyms 2810407E23Rik, Ddx36, RHAU
MMRRC Submission 045603-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7531 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 62375434-62414425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62392389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 546 (I546V)
Ref Sequence ENSEMBL: ENSMUSP00000029336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029336]
AlphaFold Q8VHK9
Predicted Effect probably damaging
Transcript: ENSMUST00000029336
AA Change: I546V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029336
Gene: ENSMUSG00000027770
AA Change: I546V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (54/54)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,286,332 (GRCm39) T2501S probably damaging Het
Abcg3 A G 5: 105,125,507 (GRCm39) Y59H probably benign Het
Acsf2 G T 11: 94,464,057 (GRCm39) probably null Het
Adam25 T A 8: 41,206,914 (GRCm39) I60K probably damaging Het
Agrn A T 4: 156,254,261 (GRCm39) V1729E probably damaging Het
Aldh9a1 G A 1: 167,177,895 (GRCm39) V31I probably benign Het
Aqp5 T C 15: 99,489,180 (GRCm39) F10L possibly damaging Het
Arfgap2 T A 2: 91,104,089 (GRCm39) probably null Het
Asb7 T C 7: 66,328,884 (GRCm39) H52R probably damaging Het
Aspa G A 11: 73,204,351 (GRCm39) Q206* probably null Het
Bpgm A G 6: 34,481,223 (GRCm39) I207V possibly damaging Het
Brinp2 A G 1: 158,094,142 (GRCm39) S187P possibly damaging Het
Clec4e A G 6: 123,262,533 (GRCm39) F128S probably benign Het
Crisp3 A G 17: 40,545,629 (GRCm39) F82L probably benign Het
Cry2 A G 2: 92,243,350 (GRCm39) L497P probably damaging Het
Dcxr A G 11: 120,617,832 (GRCm39) V48A probably benign Het
Ddx11 A T 17: 66,445,214 (GRCm39) T379S probably benign Het
Depdc1a A C 3: 159,228,276 (GRCm39) T343P probably damaging Het
Fam114a2 A G 11: 57,404,542 (GRCm39) V74A probably benign Het
Fcgbpl1 T C 7: 27,839,656 (GRCm39) F490L probably benign Het
Flg2 A T 3: 93,108,177 (GRCm39) R68S probably damaging Het
Glb1l3 T C 9: 26,764,950 (GRCm39) I154V possibly damaging Het
Gm45844 T C 7: 7,243,185 (GRCm39) T22A probably benign Het
Gramd2a A T 9: 59,617,193 (GRCm39) I83F probably damaging Het
Hcn4 A G 9: 58,767,420 (GRCm39) T994A unknown Het
Hectd1 C T 12: 51,853,150 (GRCm39) V124I probably benign Het
Hmcn1 A T 1: 150,562,531 (GRCm39) D2342E probably benign Het
Hyal6 A T 6: 24,740,786 (GRCm39) H313L possibly damaging Het
Ifnab T A 4: 88,609,523 (GRCm39) probably benign Het
Keap1 A G 9: 21,148,623 (GRCm39) I128T probably benign Het
Kit T C 5: 75,767,700 (GRCm39) S28P probably damaging Het
Krtap5-3 T A 7: 141,755,942 (GRCm39) C260S unknown Het
Lepr T A 4: 101,609,372 (GRCm39) W320R probably damaging Het
Lmod3 A T 6: 97,225,403 (GRCm39) N139K probably benign Het
Marchf1 C G 8: 66,838,989 (GRCm39) S10R probably benign Het
Naa35 A T 13: 59,765,755 (GRCm39) K380* probably null Het
Npy1r C A 8: 67,157,546 (GRCm39) F285L probably damaging Het
Nr1h3 C T 2: 91,014,739 (GRCm39) R427H probably damaging Het
Or5p79 T A 7: 108,221,269 (GRCm39) N83K probably benign Het
Pate2 A G 9: 35,582,008 (GRCm39) probably null Het
Pcmt1 A G 10: 7,556,369 (GRCm39) probably null Het
Prg4 T G 1: 150,330,786 (GRCm39) E629A unknown Het
Rin2 T G 2: 145,700,419 (GRCm39) S199A probably benign Het
Ror1 T A 4: 100,298,388 (GRCm39) L587Q probably damaging Het
Rsl1 T A 13: 67,324,566 (GRCm39) C31S possibly damaging Het
Scn4a A G 11: 106,239,523 (GRCm39) probably null Het
Sema3a T C 5: 13,615,805 (GRCm39) Y410H probably damaging Het
Smpd5 T C 15: 76,180,539 (GRCm39) V447A probably benign Het
Tax1bp1 A T 6: 52,723,682 (GRCm39) D524V probably benign Het
Tesc A T 5: 118,197,523 (GRCm39) Y179F probably damaging Het
Tm9sf2 T C 14: 122,379,824 (GRCm39) S292P possibly damaging Het
Unc45b A G 11: 82,819,838 (GRCm39) D543G probably damaging Het
Usp4 T A 9: 108,249,879 (GRCm39) V469E probably damaging Het
Vmn1r10 T A 6: 57,090,924 (GRCm39) I172N possibly damaging Het
Zfyve16 A G 13: 92,659,473 (GRCm39) L146S 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
R1951:Dhx36 UTSW 3 62,391,694 (GRCm39) missense probably damaging 0.99
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
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'- CAGTTCCCATGATTCTTTAGAGAAG -3'
(R):5'- TGATAGACCAGTGCACAAGATAC -3'

Sequencing Primer
(F):5'- CACTAAACTCAGTAGAACAGCTTTAG -3'
(R):5'- ATGCTAAAATGATCACTATCTC -3'
Posted On 2019-10-17