Incidental Mutation 'R4717:Dhx29'
ID 354162
Institutional Source Beutler Lab
Gene Symbol Dhx29
Ensembl Gene ENSMUSG00000042426
Gene Name DExH-box helicase 29
Synonyms E130202M19Rik, DEAH (Asp-Glu-Ala-His) box polypeptide 29
MMRRC Submission 041984-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4717 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 113063988-113105966 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113083469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 508 (R508H)
Ref Sequence ENSEMBL: ENSMUSP00000035244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038574]
AlphaFold Q6PGC1
Predicted Effect unknown
Transcript: ENSMUST00000038574
AA Change: R508H
SMART Domains Protein: ENSMUSP00000035244
Gene: ENSMUSG00000042426
AA Change: R508H

DomainStartEndE-ValueType
low complexity region 10 36 N/A INTRINSIC
low complexity region 41 54 N/A INTRINSIC
low complexity region 209 225 N/A INTRINSIC
low complexity region 240 255 N/A INTRINSIC
coiled coil region 279 308 N/A INTRINSIC
low complexity region 343 358 N/A INTRINSIC
Blast:DEXDc 411 450 2e-14 BLAST
DEXDc 569 763 1.09e-27 SMART
low complexity region 846 856 N/A INTRINSIC
HELICc 880 985 6.1e-17 SMART
HA2 1047 1138 8.9e-26 SMART
Pfam:OB_NTP_bind 1178 1298 3.8e-19 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein functions in translation initiation, and is specifically required for ribosomal scanning across stable mRNA secondary structures during initiation codon selection. This protein may also play a role in sensing virally derived cytosolic nucleic acids. Knockdown of this gene results in reduced protein translation and impaired proliferation of cancer cells. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T C 10: 29,097,783 (GRCm39) L60P probably damaging Het
Acsf2 T G 11: 94,450,372 (GRCm39) M512L probably benign Het
Ahrr T A 13: 74,363,885 (GRCm39) H312L probably benign Het
Akr1c18 T C 13: 4,186,717 (GRCm39) M244V probably benign Het
Aldh3b2 A G 19: 4,031,128 (GRCm39) Y459C probably damaging Het
Arhgap29 A T 3: 121,803,607 (GRCm39) I796L possibly damaging Het
Arrdc4 T A 7: 68,391,406 (GRCm39) D287V probably damaging Het
Astn2 A T 4: 65,562,991 (GRCm39) I930N possibly damaging Het
Bace2 T A 16: 97,238,073 (GRCm39) L508Q probably damaging Het
Baz2a G T 10: 127,960,811 (GRCm39) C1537F possibly damaging Het
Cad A G 5: 31,224,030 (GRCm39) probably null Het
Capn5 A T 7: 97,773,126 (GRCm39) I626N probably benign Het
Car8 A T 4: 8,169,685 (GRCm39) N274K probably damaging Het
Casp14 T C 10: 78,550,958 (GRCm39) I76V probably benign Het
Ccdc88c A G 12: 100,882,925 (GRCm39) V1649A probably benign Het
Cemip A T 7: 83,596,488 (GRCm39) I1092N probably damaging Het
Clspn A G 4: 126,453,849 (GRCm39) N91D probably damaging Het
Cpxm2 A G 7: 131,656,574 (GRCm39) Y563H possibly damaging Het
Csnk1g2 T C 10: 80,473,749 (GRCm39) V72A probably benign Het
Cyp46a1 T C 12: 108,318,285 (GRCm39) probably null Het
Cyp4x1 T C 4: 114,978,902 (GRCm39) H206R probably benign Het
Dapk1 T A 13: 60,874,476 (GRCm39) probably null Het
Ddx1 A G 12: 13,290,888 (GRCm39) W76R probably damaging Het
Dnah2 T C 11: 69,320,183 (GRCm39) D3962G probably benign Het
Dnajc14 T A 10: 128,642,113 (GRCm39) C12S possibly damaging Het
Dock1 T C 7: 134,449,899 (GRCm39) I804T probably damaging Het
Efs G T 14: 55,157,801 (GRCm39) S170Y probably damaging Het
Eml4 G T 17: 83,755,654 (GRCm39) W295C probably benign Het
Fkbp15 A G 4: 62,226,306 (GRCm39) S748P probably damaging Het
Ghr T G 15: 3,349,235 (GRCm39) I648L possibly damaging Het
Gigyf1 T A 5: 137,523,494 (GRCm39) I942N probably damaging Het
Gpam T A 19: 55,064,046 (GRCm39) E682D probably benign Het
Gsr A T 8: 34,183,886 (GRCm39) K383* probably null Het
Hapln1 C A 13: 89,753,579 (GRCm39) S248R probably benign Het
Haus2 G T 2: 120,449,583 (GRCm39) R209L probably benign Het
Hhatl A G 9: 121,618,943 (GRCm39) F63S probably damaging Het
Hmcn1 A G 1: 150,494,816 (GRCm39) M4091T probably benign Het
Hspb7 A G 4: 141,149,896 (GRCm39) D94G probably damaging Het
Irf6 T A 1: 192,849,742 (GRCm39) probably null Het
Itgb2 T A 10: 77,381,878 (GRCm39) L60* probably null Het
Jmjd1c C T 10: 66,993,830 (GRCm39) Q104* probably null Het
Kcnh1 A G 1: 191,959,025 (GRCm39) D193G probably damaging Het
Klhl25 G T 7: 75,516,528 (GRCm39) C478F probably damaging Het
Klhl3 T C 13: 58,178,330 (GRCm39) D267G probably damaging Het
L3mbtl4 T G 17: 68,762,708 (GRCm39) H80Q probably null Het
Lhcgr C A 17: 89,049,895 (GRCm39) V544F probably benign Het
Mfsd4a T C 1: 131,985,633 (GRCm39) N168D probably benign Het
Mmp3 A G 9: 7,449,881 (GRCm39) Q255R possibly damaging Het
Mrgprb3 C A 7: 48,293,000 (GRCm39) G184C probably benign Het
Mtpap C T 18: 4,396,394 (GRCm39) A562V possibly damaging Het
Nid1 T C 13: 13,681,086 (GRCm39) V1072A probably benign Het
Nsf T G 11: 103,714,595 (GRCm39) K728T probably damaging Het
Or10ak7 T C 4: 118,791,626 (GRCm39) N140D probably benign Het
Or12j3 T C 7: 139,953,328 (GRCm39) N65S probably damaging Het
Or1e17 T A 11: 73,831,641 (GRCm39) S190T possibly damaging Het
Or2a5 T C 6: 42,874,158 (GRCm39) Y258H probably damaging Het
Or4k15b A T 14: 50,272,821 (GRCm39) V13E probably damaging Het
Pcsk5 A T 19: 17,502,631 (GRCm39) C894S probably damaging Het
Pde2a A G 7: 101,143,879 (GRCm39) D166G probably benign Het
Pfpl G A 19: 12,406,618 (GRCm39) E290K probably benign Het
Pi4kb A C 3: 94,906,162 (GRCm39) I570L probably damaging Het
Plxnb2 A T 15: 89,041,622 (GRCm39) C1727* probably null Het
Poln A T 5: 34,286,792 (GRCm39) D125E possibly damaging Het
Pomgnt1 A G 4: 116,011,412 (GRCm39) D259G possibly damaging Het
Prx A T 7: 27,216,152 (GRCm39) M218L probably benign Het
Pxn A T 5: 115,690,001 (GRCm39) Q342L probably damaging Het
Rhpn2 A G 7: 35,033,775 (GRCm39) D3G possibly damaging Het
Rnase2b C T 14: 51,400,174 (GRCm39) T85I possibly damaging Het
Rnaseh2b C A 14: 62,591,075 (GRCm39) T142K probably damaging Het
Sacs T C 14: 61,450,304 (GRCm39) S4117P probably damaging Het
Sdk2 T C 11: 113,745,195 (GRCm39) N700S probably damaging Het
Sec62 A C 3: 30,864,020 (GRCm39) K101Q unknown Het
Sel1l2 A C 2: 140,071,943 (GRCm39) L659R possibly damaging Het
Septin11 A G 5: 93,304,815 (GRCm39) I211V possibly damaging Het
Slc25a42 C T 8: 70,642,107 (GRCm39) E112K probably damaging Het
Spem2 T C 11: 69,708,609 (GRCm39) N119D probably benign Het
Themis G A 10: 28,665,748 (GRCm39) E604K probably benign Het
Tie1 T C 4: 118,343,414 (GRCm39) K150E probably damaging Het
Top6bl A G 19: 4,675,901 (GRCm39) probably benign Het
Ubap2 G A 4: 41,218,333 (GRCm39) T258I possibly damaging Het
Ushbp1 C T 8: 71,838,313 (GRCm39) A664T probably damaging Het
Vmn1r1 T C 1: 181,984,774 (GRCm39) N297S possibly damaging Het
Vmn1r173 A C 7: 23,402,637 (GRCm39) I291L probably damaging Het
Yy1 A G 12: 108,759,972 (GRCm39) I212V possibly damaging Het
Zfp442 A T 2: 150,250,149 (GRCm39) F527L probably damaging Het
Zyg11b T A 4: 108,099,069 (GRCm39) H632L probably damaging Het
Other mutations in Dhx29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Dhx29 APN 13 113,101,137 (GRCm39) missense probably benign 0.15
IGL00434:Dhx29 APN 13 113,091,759 (GRCm39) missense probably benign 0.00
IGL00659:Dhx29 APN 13 113,103,169 (GRCm39) splice site probably benign
IGL01618:Dhx29 APN 13 113,101,756 (GRCm39) missense probably damaging 1.00
IGL01777:Dhx29 APN 13 113,067,406 (GRCm39) missense probably benign 0.42
IGL02010:Dhx29 APN 13 113,103,168 (GRCm39) critical splice donor site probably null
IGL02125:Dhx29 APN 13 113,091,834 (GRCm39) splice site probably benign
IGL02324:Dhx29 APN 13 113,064,342 (GRCm39) missense probably damaging 1.00
IGL02801:Dhx29 APN 13 113,101,180 (GRCm39) missense probably damaging 1.00
R0001:Dhx29 UTSW 13 113,101,090 (GRCm39) missense probably damaging 0.99
R0362:Dhx29 UTSW 13 113,099,393 (GRCm39) missense probably benign
R0468:Dhx29 UTSW 13 113,099,811 (GRCm39) missense probably benign
R0569:Dhx29 UTSW 13 113,084,748 (GRCm39) missense probably benign 0.01
R0714:Dhx29 UTSW 13 113,064,499 (GRCm39) missense possibly damaging 0.55
R1460:Dhx29 UTSW 13 113,101,744 (GRCm39) splice site probably benign
R1579:Dhx29 UTSW 13 113,072,132 (GRCm39) critical splice donor site probably null
R1657:Dhx29 UTSW 13 113,089,377 (GRCm39) missense probably damaging 1.00
R1735:Dhx29 UTSW 13 113,081,620 (GRCm39) missense probably benign 0.00
R1768:Dhx29 UTSW 13 113,084,774 (GRCm39) missense probably damaging 1.00
R1851:Dhx29 UTSW 13 113,084,815 (GRCm39) missense probably damaging 1.00
R1937:Dhx29 UTSW 13 113,101,864 (GRCm39) missense probably benign 0.06
R2180:Dhx29 UTSW 13 113,099,406 (GRCm39) critical splice donor site probably null
R2219:Dhx29 UTSW 13 113,089,338 (GRCm39) missense probably damaging 1.00
R2442:Dhx29 UTSW 13 113,083,508 (GRCm39) missense possibly damaging 0.94
R2679:Dhx29 UTSW 13 113,083,910 (GRCm39) critical splice donor site probably null
R2908:Dhx29 UTSW 13 113,064,385 (GRCm39) missense possibly damaging 0.78
R2912:Dhx29 UTSW 13 113,072,109 (GRCm39) missense probably damaging 1.00
R3414:Dhx29 UTSW 13 113,083,807 (GRCm39) missense probably damaging 0.99
R3931:Dhx29 UTSW 13 113,095,499 (GRCm39) missense probably damaging 1.00
R3957:Dhx29 UTSW 13 113,067,455 (GRCm39) missense probably benign
R4065:Dhx29 UTSW 13 113,101,276 (GRCm39) critical splice donor site probably null
R4207:Dhx29 UTSW 13 113,064,483 (GRCm39) missense probably benign 0.01
R4422:Dhx29 UTSW 13 113,083,781 (GRCm39) missense probably damaging 1.00
R4718:Dhx29 UTSW 13 113,083,469 (GRCm39) missense unknown
R5125:Dhx29 UTSW 13 113,069,134 (GRCm39) missense possibly damaging 0.81
R5178:Dhx29 UTSW 13 113,069,134 (GRCm39) missense possibly damaging 0.81
R5263:Dhx29 UTSW 13 113,084,755 (GRCm39) missense probably damaging 1.00
R5458:Dhx29 UTSW 13 113,103,155 (GRCm39) missense probably benign 0.00
R5469:Dhx29 UTSW 13 113,081,073 (GRCm39) missense possibly damaging 0.94
R5541:Dhx29 UTSW 13 113,076,908 (GRCm39) missense possibly damaging 0.47
R5573:Dhx29 UTSW 13 113,069,749 (GRCm39) missense probably benign 0.07
R5664:Dhx29 UTSW 13 113,083,413 (GRCm39) missense probably damaging 1.00
R5682:Dhx29 UTSW 13 113,067,383 (GRCm39) missense probably damaging 1.00
R5769:Dhx29 UTSW 13 113,090,251 (GRCm39) missense probably damaging 0.99
R5917:Dhx29 UTSW 13 113,099,377 (GRCm39) missense probably damaging 1.00
R5928:Dhx29 UTSW 13 113,101,002 (GRCm39) missense probably benign 0.00
R6115:Dhx29 UTSW 13 113,089,335 (GRCm39) critical splice acceptor site probably null
R6144:Dhx29 UTSW 13 113,101,105 (GRCm39) missense probably damaging 1.00
R6195:Dhx29 UTSW 13 113,101,071 (GRCm39) missense probably benign 0.08
R6233:Dhx29 UTSW 13 113,101,071 (GRCm39) missense probably benign 0.08
R6430:Dhx29 UTSW 13 113,081,153 (GRCm39) missense possibly damaging 0.77
R6480:Dhx29 UTSW 13 113,090,322 (GRCm39) nonsense probably null
R6527:Dhx29 UTSW 13 113,069,076 (GRCm39) missense probably damaging 1.00
R6856:Dhx29 UTSW 13 113,089,395 (GRCm39) missense probably benign 0.43
R7391:Dhx29 UTSW 13 113,099,393 (GRCm39) missense probably benign
R7555:Dhx29 UTSW 13 113,064,176 (GRCm39) start gained probably benign
R7602:Dhx29 UTSW 13 113,081,093 (GRCm39) missense possibly damaging 0.95
R8744:Dhx29 UTSW 13 113,089,418 (GRCm39) missense possibly damaging 0.54
R9281:Dhx29 UTSW 13 113,078,240 (GRCm39) missense possibly damaging 0.82
R9450:Dhx29 UTSW 13 113,083,862 (GRCm39) missense possibly damaging 0.78
R9496:Dhx29 UTSW 13 113,089,460 (GRCm39) missense probably damaging 1.00
R9716:Dhx29 UTSW 13 113,081,612 (GRCm39) missense possibly damaging 0.83
Z1177:Dhx29 UTSW 13 113,092,051 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- ACAGTCTAACGTAGCTCCTGC -3'
(R):5'- AACACAGGTAGCTGCTGTC -3'

Sequencing Primer
(F):5'- CCTTTTCAGTCTGTCCATCAGTTAC -3'
(R):5'- ACAGGTAGCTGCTGTCTCTCC -3'
Posted On 2015-10-21