Incidental Mutation 'R6091:Ddx42'
ID 485937
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 044248-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6091 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 106107752-106139965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106125796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 282 (Q282L)
Ref Sequence ENSEMBL: ENSMUSP00000021046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021046]
AlphaFold Q810A7
Predicted Effect probably damaging
Transcript: ENSMUST00000021046
AA Change: Q282L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021046
Gene: ENSMUSG00000020705
AA Change: Q282L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152860
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.8%
Validation Efficiency 96% (54/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T G 2: 35,252,348 (GRCm39) T50P possibly damaging Het
Adad1 A G 3: 37,139,118 (GRCm39) E396G possibly damaging Het
Adamtsl3 T A 7: 82,114,829 (GRCm39) C232S probably damaging Het
AI606181 T C 19: 41,582,063 (GRCm39) S78P unknown Het
Amph T A 13: 19,309,293 (GRCm39) M457K probably benign Het
Ano1 A T 7: 144,223,171 (GRCm39) M174K probably benign Het
C3 T A 17: 57,528,967 (GRCm39) K632* probably null Het
Cep170 C T 1: 176,583,397 (GRCm39) G994D probably damaging Het
Chd7 T C 4: 8,751,875 (GRCm39) V124A probably damaging Het
Chd9 A G 8: 91,761,691 (GRCm39) K2259E probably damaging Het
Col7a1 A G 9: 108,784,402 (GRCm39) T137A unknown Het
Dcc C T 18: 71,942,185 (GRCm39) V311I probably benign Het
Fcgbp A G 7: 27,804,390 (GRCm39) T1833A possibly damaging Het
Fpr-rs3 A G 17: 20,844,532 (GRCm39) I203T probably benign Het
Frem1 A G 4: 82,818,796 (GRCm39) I2139T probably benign Het
Frmpd2 T C 14: 33,244,820 (GRCm39) V546A probably damaging Het
Gbp11 G T 5: 105,479,254 (GRCm39) T123N possibly damaging Het
Hs3st1 G A 5: 39,772,007 (GRCm39) P212L probably damaging Het
Ifnb1 T A 4: 88,440,813 (GRCm39) M67L probably benign Het
Ighv1-54 T C 12: 115,157,497 (GRCm39) N50S probably benign Het
Ikzf4 G A 10: 128,470,542 (GRCm39) T326I probably benign Het
Ints2 A T 11: 86,127,429 (GRCm39) V501E probably damaging Het
Mfsd1 C A 3: 67,507,270 (GRCm39) probably null Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mrps11 G A 7: 78,438,466 (GRCm39) A73T possibly damaging Het
Mterf4 T C 1: 93,229,291 (GRCm39) E311G probably damaging Het
Mx2 A G 16: 97,347,635 (GRCm39) T176A probably damaging Het
Mycbp2 A C 14: 103,460,482 (GRCm39) L1495R probably damaging Het
Myo3b A G 2: 70,069,113 (GRCm39) T451A probably benign Het
Myrfl T C 10: 116,685,111 (GRCm39) T90A probably benign Het
Nbeal1 A G 1: 60,220,715 (GRCm39) probably benign Het
Ncor1 A G 11: 62,310,443 (GRCm39) L201P probably damaging Het
Nfxl1 G T 5: 72,671,533 (GRCm39) L909I probably benign Het
Nr3c1 GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC 18: 39,620,011 (GRCm39) probably benign Het
Or5aq1b T A 2: 86,901,705 (GRCm39) S258C probably benign Het
Plscr5 A G 9: 92,086,437 (GRCm39) T136A probably benign Het
Ppp1r3a G A 6: 14,719,339 (GRCm39) T525I probably benign Het
Ptprg G A 14: 12,215,979 (GRCm38) G1143R probably damaging Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Ryr1 T C 7: 28,771,398 (GRCm39) T2541A probably benign Het
Sall1 A G 8: 89,755,247 (GRCm39) L1244P probably damaging Het
Sec16a G A 2: 26,316,482 (GRCm39) H1673Y probably damaging Het
Slc22a19 A G 19: 7,688,428 (GRCm39) I44T probably benign Het
Snap91 T A 9: 86,721,681 (GRCm39) N53Y probably damaging Het
Sorcs1 T C 19: 50,276,539 (GRCm39) T338A possibly damaging Het
Taf6l T C 19: 8,755,920 (GRCm39) T243A probably benign Het
Tex10 T C 4: 48,459,891 (GRCm39) R487G probably damaging Het
Tfcp2 G T 15: 100,410,194 (GRCm39) T391N probably damaging Het
Tnxb G A 17: 34,929,338 (GRCm39) V2794M probably damaging Het
Ush2a T G 1: 188,132,000 (GRCm39) C741G probably damaging Het
Vmn1r3 T A 4: 3,184,684 (GRCm39) I208F probably damaging Het
Vmn2r28 T A 7: 5,496,790 (GRCm39) I21F possibly damaging Het
Vmn2r93 A G 17: 18,545,958 (GRCm39) D610G probably benign Het
Wbp1 T C 6: 83,096,468 (GRCm39) S229G probably benign Het
Xirp1 A G 9: 119,847,029 (GRCm39) V618A probably benign Het
Zbtb32 A G 7: 30,291,254 (GRCm39) S14P possibly damaging Het
Zfp24 A G 18: 24,147,269 (GRCm39) S348P probably damaging 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
R3498:Ddx42 UTSW 11 106,122,019 (GRCm39) missense possibly damaging 0.90
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
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'- AGCTAAAGTGCTTGGTCTGAG -3'
(R):5'- GGGATTCTAGTCATTGAAAGCAC -3'

Sequencing Primer
(F):5'- GTGCACTGTTGAACTGTAAATGC -3'
(R):5'- TGAAAGCACAAAGTATATCCATGGAC -3'
Posted On 2017-08-16