Incidental Mutation 'R3498:Ddx42'
ID 273675
Institutional Source Beutler Lab
Gene Symbol Ddx42
Ensembl Gene ENSMUSG00000020705
Gene Name DEAD box helicase 42
Synonyms DEAD (Asp-Glu-Ala-Asp) box polypeptide 42, B430002H05Rik, 1810047H21Rik, SF3b125
MMRRC Submission 040661-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3498 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 106107752-106139965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106122019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 178 (E178G)
Ref Sequence ENSEMBL: ENSMUSP00000021046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021046]
AlphaFold Q810A7
Predicted Effect possibly damaging
Transcript: ENSMUST00000021046
AA Change: E178G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021046
Gene: ENSMUSG00000020705
AA Change: E178G

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
low complexity region 35 52 N/A INTRINSIC
low complexity region 68 82 N/A INTRINSIC
low complexity region 108 114 N/A INTRINSIC
coiled coil region 116 143 N/A INTRINSIC
low complexity region 149 158 N/A INTRINSIC
DEXDc 272 474 7.61e-68 SMART
HELICc 512 593 1.58e-33 SMART
low complexity region 644 659 N/A INTRINSIC
low complexity region 722 737 N/A INTRINSIC
low complexity region 814 838 N/A INTRINSIC
Meta Mutation Damage Score 0.1455 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (43/43)
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 Asp-Glu-Ala-Asp (DEAD) box protein family. Members of this protein family are putative RNA helicases, and are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,649,350 (GRCm39) F6L probably benign Het
Aurkc A G 7: 7,003,029 (GRCm39) I175V probably damaging Het
Azi2 A G 9: 117,878,475 (GRCm39) D105G probably damaging Het
Bcat1 A G 6: 144,965,068 (GRCm39) V45A probably damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Dmpk T C 7: 18,820,306 (GRCm39) I101T probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Fosb C T 7: 19,040,557 (GRCm39) R161H probably damaging Het
Gm6729 T C 10: 86,376,582 (GRCm39) noncoding transcript Het
Gnb1 T A 4: 155,639,483 (GRCm39) N237K possibly damaging Het
Gpr35 A G 1: 92,911,113 (GRCm39) Y275C probably damaging Het
Hmcn1 A T 1: 150,480,853 (GRCm39) I4441N probably damaging Het
Ighe G A 12: 113,234,994 (GRCm39) Q389* probably null Het
Kcnj11 T C 7: 45,749,026 (GRCm39) D23G probably damaging Het
Lats2 G T 14: 57,959,923 (GRCm39) A191E possibly damaging Het
Lyplal1 A G 1: 185,820,857 (GRCm39) S197P possibly damaging Het
Map4 G T 9: 109,864,280 (GRCm39) V502L probably benign Het
Mgat5 A G 1: 127,312,571 (GRCm39) M237V possibly damaging Het
Mindy4 A G 6: 55,193,510 (GRCm39) R68G probably benign Het
Nell1 T A 7: 49,907,927 (GRCm39) V362E possibly damaging Het
Or5m8 T A 2: 85,822,774 (GRCm39) F204L probably benign Het
Or6c66b T A 10: 129,376,778 (GRCm39) I124N probably damaging Het
P4ha2 T C 11: 54,010,079 (GRCm39) Y279H probably benign Het
Pcid2 A G 8: 13,150,413 (GRCm39) V13A possibly damaging Het
Polr2j T C 5: 136,151,624 (GRCm39) I116T probably benign Het
Prdm9 A G 17: 15,783,207 (GRCm39) probably benign Het
Prr5 T A 15: 84,587,345 (GRCm39) V365E probably benign Het
Ptprf A T 4: 118,082,127 (GRCm39) I1037N probably damaging Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Sde2 T A 1: 180,685,750 (GRCm39) C101S probably damaging Het
Sec1 T C 7: 45,328,663 (GRCm39) H128R probably damaging Het
Serpinb6a A T 13: 34,102,764 (GRCm39) M253K probably damaging Het
Slc1a4 A T 11: 20,263,973 (GRCm39) I248N probably damaging Het
Slc22a4 T G 11: 53,882,879 (GRCm39) K328N probably benign Het
Slc24a4 A T 12: 102,200,951 (GRCm39) K278N probably benign Het
Slc6a21 T A 7: 44,930,266 (GRCm39) W222R probably damaging Het
Slc7a2 A G 8: 41,365,567 (GRCm39) E466G probably benign Het
Sspo A G 6: 48,444,914 (GRCm39) T2133A possibly damaging Het
Taco1 A G 11: 105,963,364 (GRCm39) M172V probably benign Het
Tmem127 T A 2: 127,098,040 (GRCm39) H36Q probably benign Het
Tmem229b-ps C T 10: 53,351,223 (GRCm39) noncoding transcript Het
Vac14 A G 8: 111,397,722 (GRCm39) D479G probably benign Het
Vmn1r176 T A 7: 23,534,667 (GRCm39) K162I probably benign Het
Other mutations in Ddx42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Ddx42 APN 11 106,126,575 (GRCm39) missense probably damaging 0.98
IGL00833:Ddx42 APN 11 106,122,004 (GRCm39) missense possibly damaging 0.52
IGL01095:Ddx42 APN 11 106,138,325 (GRCm39) missense probably damaging 1.00
IGL01651:Ddx42 APN 11 106,138,855 (GRCm39) missense probably benign 0.00
IGL01715:Ddx42 APN 11 106,115,101 (GRCm39) missense probably damaging 1.00
IGL02097:Ddx42 APN 11 106,129,986 (GRCm39) missense probably benign 0.00
IGL03182:Ddx42 APN 11 106,138,353 (GRCm39) missense probably benign
P0045:Ddx42 UTSW 11 106,122,098 (GRCm39) missense probably damaging 1.00
R0504:Ddx42 UTSW 11 106,138,675 (GRCm39) missense probably benign 0.03
R0646:Ddx42 UTSW 11 106,123,659 (GRCm39) missense probably benign 0.00
R2277:Ddx42 UTSW 11 106,133,765 (GRCm39) missense probably damaging 1.00
R2279:Ddx42 UTSW 11 106,133,765 (GRCm39) missense probably damaging 1.00
R2297:Ddx42 UTSW 11 106,133,765 (GRCm39) missense probably damaging 1.00
R2336:Ddx42 UTSW 11 106,121,976 (GRCm39) missense possibly damaging 0.56
R2519:Ddx42 UTSW 11 106,136,155 (GRCm39) missense probably damaging 1.00
R3413:Ddx42 UTSW 11 106,138,636 (GRCm39) missense probably benign 0.00
R3883:Ddx42 UTSW 11 106,138,518 (GRCm39) missense probably benign 0.03
R4421:Ddx42 UTSW 11 106,121,964 (GRCm39) missense probably damaging 1.00
R4696:Ddx42 UTSW 11 106,138,529 (GRCm39) missense probably benign 0.09
R4953:Ddx42 UTSW 11 106,133,766 (GRCm39) missense probably damaging 1.00
R5398:Ddx42 UTSW 11 106,115,724 (GRCm39) missense probably benign
R5669:Ddx42 UTSW 11 106,132,645 (GRCm39) missense probably damaging 1.00
R6091:Ddx42 UTSW 11 106,125,796 (GRCm39) missense probably damaging 1.00
R6139:Ddx42 UTSW 11 106,130,843 (GRCm39) missense probably damaging 1.00
R6643:Ddx42 UTSW 11 106,119,646 (GRCm39) missense probably benign 0.14
R6991:Ddx42 UTSW 11 106,129,970 (GRCm39) missense probably damaging 1.00
R7351:Ddx42 UTSW 11 106,138,508 (GRCm39) missense probably benign
R7502:Ddx42 UTSW 11 106,138,565 (GRCm39) missense probably benign 0.00
R7792:Ddx42 UTSW 11 106,127,822 (GRCm39) missense probably damaging 1.00
R8145:Ddx42 UTSW 11 106,130,887 (GRCm39) missense possibly damaging 0.52
R8425:Ddx42 UTSW 11 106,138,550 (GRCm39) missense probably benign
R9265:Ddx42 UTSW 11 106,132,435 (GRCm39) missense probably benign 0.01
R9523:Ddx42 UTSW 11 106,132,606 (GRCm39) missense probably benign 0.40
R9681:Ddx42 UTSW 11 106,125,679 (GRCm39) missense probably damaging 1.00
RF018:Ddx42 UTSW 11 106,123,630 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GATGTCCCCACAAACAGGAAGG -3'
(R):5'- TTTCTGATCCAACCACTTAGCAG -3'

Sequencing Primer
(F):5'- CCACAAACAGGAAGGCTTCTG -3'
(R):5'- ACCACTTAGCAGAAATAAAGATTCC -3'
Posted On 2015-04-02