Incidental Mutation 'R1587:Ddx11'
ID 177604
Institutional Source Beutler Lab
Gene Symbol Ddx11
Ensembl Gene ENSMUSG00000035842
Gene Name DEAD/H box helicase 11
Synonyms 4732462I11Rik, DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11, CHL1, essa15a, CHLR1, KRG2
MMRRC Submission 039624-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1587 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 66430515-66459169 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66456251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 770 (L770P)
Ref Sequence ENSEMBL: ENSMUSP00000153436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163605] [ENSMUST00000224497] [ENSMUST00000224903]
AlphaFold Q6AXC6
Predicted Effect probably damaging
Transcript: ENSMUST00000163605
AA Change: L744P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130440
Gene: ENSMUSG00000035842
AA Change: L744P

DomainStartEndE-ValueType
DEXDc 11 408 1.14e-153 SMART
Blast:DEXDc2 430 479 6e-14 BLAST
HELICc 682 839 1.4e-66 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000224497
AA Change: L770P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000224903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226095
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They 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. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,473,585 (GRCm39) S111T probably benign Het
Abhd2 A T 7: 79,003,758 (GRCm39) H279L probably benign Het
Ablim1 C T 19: 57,071,979 (GRCm39) M1I probably null Het
Agrn T C 4: 156,263,897 (GRCm39) Q122R probably damaging Het
Arfgef1 A T 1: 10,230,184 (GRCm39) F1218I probably damaging Het
Bud13 C T 9: 46,201,513 (GRCm39) P395S probably damaging Het
Ccdc110 G A 8: 46,394,783 (GRCm39) V225M probably benign Het
Ccdc30 A T 4: 119,210,373 (GRCm39) S248T probably damaging Het
Cdh20 C A 1: 110,027,757 (GRCm39) Q501K probably damaging Het
Cwc27 T C 13: 104,929,145 (GRCm39) D266G probably benign Het
Cyp2d40 T A 15: 82,645,334 (GRCm39) probably null Het
Cyp4a32 T G 4: 115,467,731 (GRCm39) N238K probably benign Het
Dgcr8 C T 16: 18,098,155 (GRCm39) G412E probably damaging Het
Disp2 C A 2: 118,622,064 (GRCm39) A932D probably damaging Het
Dlg4 T A 11: 69,922,572 (GRCm39) N291K possibly damaging Het
Dnajc7 A G 11: 100,492,556 (GRCm39) I39T probably damaging Het
Elp1 G A 4: 56,786,666 (GRCm39) Q426* probably null Het
Eno3 T C 11: 70,552,296 (GRCm39) V316A probably damaging Het
Ep400 G A 5: 110,874,768 (GRCm39) T944I probably benign Het
Ezh2 T G 6: 47,529,424 (GRCm39) probably null Het
F7 A T 8: 13,084,783 (GRCm39) I270F possibly damaging Het
Fancc A G 13: 63,488,246 (GRCm39) F245L probably benign Het
Fzd7 G A 1: 59,522,165 (GRCm39) C16Y possibly damaging Het
Gm29394 A G 15: 57,892,008 (GRCm39) *200Q probably null Het
Ints8 A G 4: 11,245,722 (GRCm39) probably null Het
Krt36 A T 11: 99,993,128 (GRCm39) I449N probably damaging Het
Ldlr A T 9: 21,649,209 (GRCm39) H328L probably damaging Het
Limk2 T C 11: 3,303,455 (GRCm39) N101S possibly damaging Het
Lrp4 A G 2: 91,306,650 (GRCm39) N321S probably benign Het
Mafk T C 5: 139,785,900 (GRCm39) S33P probably damaging Het
Mbtps1 T C 8: 120,244,958 (GRCm39) Y831C probably damaging Het
Mfge8 T A 7: 78,784,513 (GRCm39) I344F probably damaging Het
Myo5b T C 18: 74,867,061 (GRCm39) V1430A probably benign Het
Nbas G A 12: 13,608,686 (GRCm39) R2154H probably benign Het
Nlrp6 G A 7: 140,502,959 (GRCm39) R355H probably damaging Het
Noc4l T C 5: 110,800,889 (GRCm39) T76A probably benign Het
Nrp1 T A 8: 129,202,763 (GRCm39) C583S probably damaging Het
Or2w4 C T 13: 21,796,083 (GRCm39) D19N probably benign Het
Or5d35 T A 2: 87,855,477 (GRCm39) M137K probably damaging Het
Pgm5 T A 19: 24,793,113 (GRCm39) I318F probably damaging Het
Phf1 T A 17: 27,156,466 (GRCm39) V536D probably damaging Het
Prpf4b C A 13: 35,076,133 (GRCm39) A641D probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbm47 A G 5: 66,182,334 (GRCm39) I433T probably benign Het
Resf1 G T 6: 149,228,018 (GRCm39) V355F probably damaging Het
S100a3 G A 3: 90,509,618 (GRCm39) E88K probably benign Het
Sesn1 A G 10: 41,687,108 (GRCm39) I31V probably benign Het
Son T A 16: 91,456,606 (GRCm39) S1784R probably damaging Het
Srbd1 G T 17: 86,292,865 (GRCm39) D901E probably damaging Het
St8sia6 C T 2: 13,677,416 (GRCm39) D134N possibly damaging Het
Synpo2 T A 3: 122,908,047 (GRCm39) D423V probably damaging Het
Vmn2r108 A G 17: 20,692,383 (GRCm39) S158P probably damaging Het
Vmn2r109 A T 17: 20,761,002 (GRCm39) V785E probably damaging Het
Zfp143 A G 7: 109,673,275 (GRCm39) D124G probably benign Het
Zfp251 A G 15: 76,754,484 (GRCm39) L54P probably damaging Het
Zfp324 G T 7: 12,704,570 (GRCm39) S253I possibly damaging Het
Zfp59 A G 7: 27,553,559 (GRCm39) E337G possibly damaging Het
Zfp663 G T 2: 165,195,437 (GRCm39) Q261K probably benign Het
Zhx3 T C 2: 160,623,613 (GRCm39) probably null Het
Other mutations in Ddx11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:Ddx11 APN 17 66,441,132 (GRCm39) missense probably damaging 1.00
IGL01577:Ddx11 APN 17 66,446,398 (GRCm39) missense possibly damaging 0.95
IGL02558:Ddx11 APN 17 66,455,667 (GRCm39) missense probably damaging 0.99
IGL02801:Ddx11 APN 17 66,455,028 (GRCm39) missense probably benign 0.03
R1550:Ddx11 UTSW 17 66,445,215 (GRCm39) missense probably benign 0.16
R1601:Ddx11 UTSW 17 66,457,380 (GRCm39) missense probably damaging 1.00
R1625:Ddx11 UTSW 17 66,457,692 (GRCm39) missense probably benign 0.45
R1714:Ddx11 UTSW 17 66,455,754 (GRCm39) missense probably damaging 1.00
R1867:Ddx11 UTSW 17 66,442,934 (GRCm39) splice site probably null
R1959:Ddx11 UTSW 17 66,437,723 (GRCm39) missense probably benign 0.27
R1980:Ddx11 UTSW 17 66,455,734 (GRCm39) missense probably damaging 0.97
R2392:Ddx11 UTSW 17 66,456,968 (GRCm39) missense probably damaging 1.00
R3118:Ddx11 UTSW 17 66,456,272 (GRCm39) missense probably damaging 1.00
R3425:Ddx11 UTSW 17 66,446,434 (GRCm39) missense possibly damaging 0.62
R3983:Ddx11 UTSW 17 66,441,125 (GRCm39) missense probably damaging 1.00
R4571:Ddx11 UTSW 17 66,437,768 (GRCm39) missense probably benign 0.20
R4576:Ddx11 UTSW 17 66,457,721 (GRCm39) missense probably damaging 1.00
R4847:Ddx11 UTSW 17 66,437,796 (GRCm39) missense probably damaging 1.00
R5010:Ddx11 UTSW 17 66,454,717 (GRCm39) missense possibly damaging 0.60
R5414:Ddx11 UTSW 17 66,455,763 (GRCm39) missense probably benign 0.40
R5610:Ddx11 UTSW 17 66,457,021 (GRCm39) missense probably damaging 1.00
R5822:Ddx11 UTSW 17 66,436,976 (GRCm39) missense probably benign 0.00
R5972:Ddx11 UTSW 17 66,455,085 (GRCm39) missense probably benign 0.05
R6017:Ddx11 UTSW 17 66,437,012 (GRCm39) missense
R6267:Ddx11 UTSW 17 66,457,724 (GRCm39) critical splice donor site probably null
R6296:Ddx11 UTSW 17 66,457,724 (GRCm39) critical splice donor site probably null
R7205:Ddx11 UTSW 17 66,437,766 (GRCm39) missense probably benign 0.25
R7531:Ddx11 UTSW 17 66,445,214 (GRCm39) missense probably benign 0.00
R7544:Ddx11 UTSW 17 66,433,280 (GRCm39) missense probably damaging 0.98
R7593:Ddx11 UTSW 17 66,433,193 (GRCm39) missense possibly damaging 0.48
R7598:Ddx11 UTSW 17 66,437,541 (GRCm39) splice site probably null
R7778:Ddx11 UTSW 17 66,437,543 (GRCm39) critical splice donor site probably null
R7824:Ddx11 UTSW 17 66,437,543 (GRCm39) critical splice donor site probably null
R8087:Ddx11 UTSW 17 66,456,988 (GRCm39) missense probably damaging 1.00
R8379:Ddx11 UTSW 17 66,437,020 (GRCm39) missense probably benign
R8885:Ddx11 UTSW 17 66,450,460 (GRCm39) missense probably benign 0.00
R9071:Ddx11 UTSW 17 66,450,736 (GRCm39) missense probably damaging 1.00
R9252:Ddx11 UTSW 17 66,457,807 (GRCm39) missense probably benign 0.01
R9398:Ddx11 UTSW 17 66,436,912 (GRCm39) missense probably benign 0.38
R9556:Ddx11 UTSW 17 66,447,207 (GRCm39) missense probably benign 0.06
R9639:Ddx11 UTSW 17 66,437,012 (GRCm39) missense
R9775:Ddx11 UTSW 17 66,445,157 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGGTGCTGATGGCGTATTCCAAG -3'
(R):5'- AGCAAGTCACGGCTCCTACTTCTC -3'

Sequencing Primer
(F):5'- TCAGCTGGGAACAGTCGTAT -3'
(R):5'- TGGTCTACACAGCCAGATTGAC -3'
Posted On 2014-04-24