Incidental Mutation 'R2973:Dhx36'
ID 255267
Institutional Source Beutler Lab
Gene Symbol Dhx36
Ensembl Gene ENSMUSG00000027770
Gene Name DEAH-box helicase 36
Synonyms 2810407E23Rik, Ddx36, RHAU
MMRRC Submission 040526-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2973 (G1)
Quality Score 156
Status Validated
Chromosome 3
Chromosomal Location 62375434-62414425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 62402919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 278 (G278R)
Ref Sequence ENSEMBL: ENSMUSP00000029336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029336]
AlphaFold Q8VHK9
Predicted Effect possibly damaging
Transcript: ENSMUST00000029336
AA Change: G278R

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029336
Gene: ENSMUSG00000027770
AA Change: G278R

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: ENSMUST00000192223
Meta Mutation Damage Score 0.8366 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (44/45)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T G 10: 79,844,801 (GRCm39) F1508V probably damaging Het
Angptl7 T A 4: 148,584,671 (GRCm39) K26* probably null Het
Aoc1l1 A G 6: 48,953,358 (GRCm39) T428A probably benign Het
BC048507 T C 13: 68,011,749 (GRCm39) I42T probably benign Het
Cald1 A G 6: 34,734,931 (GRCm39) probably benign Het
Ces5a A G 8: 94,255,132 (GRCm39) F187S probably damaging Het
Chd3 A G 11: 69,251,442 (GRCm39) Y530H probably damaging Het
Crnkl1 A G 2: 145,774,181 (GRCm39) L94P probably benign Het
Cst9 G T 2: 148,677,145 (GRCm39) probably null Het
Cstdc2 T C 2: 148,692,706 (GRCm39) D32G probably benign Het
D930007J09Rik C T 13: 32,986,742 (GRCm39) probably benign Het
Dcaf10 T C 4: 45,373,957 (GRCm39) S461P probably benign Het
Eps8l3 T C 3: 107,798,644 (GRCm39) I510T probably damaging Het
Gab2 A G 7: 96,872,759 (GRCm39) E54G probably benign Het
Gsdme A G 6: 50,206,304 (GRCm39) C180R probably damaging Het
Hesx1 A G 14: 26,722,599 (GRCm39) probably benign Het
Il5ra G A 6: 106,718,196 (GRCm39) P86L probably benign Het
Jakmip1 A G 5: 37,248,871 (GRCm39) K177R probably damaging Het
Larp4b T C 13: 9,216,347 (GRCm39) probably benign Het
Lrrc42 A T 4: 107,096,311 (GRCm39) D40E probably damaging Het
Mefv G A 16: 3,533,558 (GRCm39) R238* probably null Het
Mroh9 A T 1: 162,884,338 (GRCm39) M400K probably damaging Het
Or12j2 T G 7: 139,916,300 (GRCm39) F175C probably damaging Het
Or5ac22 A C 16: 59,135,767 (GRCm39) M1R probably null Het
Or5d37 A G 2: 87,923,458 (GRCm39) L274P probably benign Het
Plec C G 15: 76,072,961 (GRCm39) G631R probably damaging Het
Polr3b A G 10: 84,464,144 (GRCm39) K35E probably benign Het
Ppef2 T C 5: 92,386,953 (GRCm39) E328G probably benign Het
Rogdi G T 16: 4,829,526 (GRCm39) Q90K probably damaging Het
Rtn1 C A 12: 72,270,163 (GRCm39) R116L probably damaging Het
Septin14 T C 5: 129,776,086 (GRCm39) H31R probably benign Het
Serpinb9e T A 13: 33,439,126 (GRCm39) V184E probably benign Het
Slc10a5 A T 3: 10,399,517 (GRCm39) I381N probably damaging Het
Slit1 G A 19: 41,599,455 (GRCm39) P1032L probably benign Het
Sptlc3 A G 2: 139,431,581 (GRCm39) T368A probably damaging Het
Tm9sf1 T A 14: 55,878,571 (GRCm39) T274S probably benign Het
Tpgs1 A G 10: 79,505,449 (GRCm39) E69G probably damaging Het
Trpv5 T C 6: 41,630,165 (GRCm39) S642G possibly damaging Het
Ttn A C 2: 76,632,661 (GRCm39) I12385S probably damaging Het
Ube2e2 T C 14: 18,630,321 (GRCm38) D137G possibly damaging Het
Ubr4 T C 4: 139,133,847 (GRCm39) Y748H probably benign Het
Ugt8a T C 3: 125,708,957 (GRCm39) H51R probably benign Het
Vcp T A 4: 42,996,315 (GRCm39) I16F probably damaging Het
Vmn2r117 A G 17: 23,678,830 (GRCm39) V798A 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 62,402,916 (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'- AGGGTATGCTGAGATGCCTG -3'
(R):5'- AGCTTCAGGTACCTCAGACTTTAG -3'

Sequencing Primer
(F):5'- AGAGAACTGACTCCTGCAGTTTGTC -3'
(R):5'- TCAGGTACCTCAGACTTTAGTATTTC -3'
Posted On 2014-12-29