Incidental Mutation 'R9639:Ddx11'
ID 725888
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9639 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 66430515-66459169 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66437012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 102 (D102G)
Ref Sequence ENSEMBL: ENSMUSP00000153436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163605] [ENSMUST00000224497] [ENSMUST00000224903] [ENSMUST00000225956]
AlphaFold Q6AXC6
Predicted Effect probably benign
Transcript: ENSMUST00000163605
AA Change: D102G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000130440
Gene: ENSMUSG00000035842
AA Change: D102G

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 noncoding transcript
Transcript: ENSMUST00000223600
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000224903
AA Change: D102G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225687
Predicted Effect probably benign
Transcript: ENSMUST00000225956
AA Change: D102G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,893,345 (GRCm39) D1265G probably benign Het
Baz2b T A 2: 59,731,828 (GRCm39) N2070I probably benign Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Chd9 A T 8: 91,760,840 (GRCm39) E2195V probably null Het
Cracd T C 5: 77,005,997 (GRCm39) V786A unknown Het
D6Ertd527e G C 6: 87,088,839 (GRCm39) S334T unknown Het
Egf T C 3: 129,513,949 (GRCm39) T421A possibly damaging Het
Fbxo11 A G 17: 88,316,107 (GRCm39) V365A Het
Gmps T A 3: 63,922,938 (GRCm39) S634T probably damaging Het
Lrrc7 T C 3: 157,946,138 (GRCm39) K187R probably benign Het
Lyplal1 A T 1: 185,849,409 (GRCm39) C13* probably null Het
Mycbp2 A G 14: 103,433,817 (GRCm39) W2255R probably damaging Het
Myo5c C A 9: 75,165,477 (GRCm39) H428Q probably damaging Het
Nrap T C 19: 56,333,948 (GRCm39) T1005A possibly damaging Het
Or2bd2 A T 7: 6,443,290 (GRCm39) R130S probably benign Het
Pcdh12 C T 18: 38,402,032 (GRCm39) M1123I probably damaging Het
Pdzrn3 A G 6: 101,146,172 (GRCm39) S393P probably benign Het
Pgr A T 9: 8,900,994 (GRCm39) S176C possibly damaging Het
Ppp2r3d T C 9: 101,022,713 (GRCm39) N312S probably benign Het
Qrich2 G A 11: 116,346,924 (GRCm39) P1300L probably benign Het
Sap130 T C 18: 31,844,789 (GRCm39) probably null Het
Slc15a3 T A 19: 10,820,717 (GRCm39) Y111* probably null Het
Slc26a9 A G 1: 131,678,409 (GRCm39) E25G probably damaging Het
Slc2a3 A G 6: 122,714,199 (GRCm39) F110L probably benign Het
Spesp1 A T 9: 62,180,238 (GRCm39) D223E possibly damaging Het
St18 T C 1: 6,929,246 (GRCm39) I46T Het
Trmt6 T A 2: 132,650,862 (GRCm39) K249* probably null Het
Ttll10 A T 4: 156,119,503 (GRCm39) I632K probably benign Het
Vmn1r216 A G 13: 23,283,518 (GRCm39) N67S probably benign Het
Vmn1r28 C T 6: 58,242,996 (GRCm39) Q280* probably null Het
Vmn2r38 T G 7: 9,078,063 (GRCm39) D773A probably damaging Het
Vmn2r92 A G 17: 18,372,352 (GRCm39) Y54C probably damaging Het
Ywhae G A 11: 75,650,248 (GRCm39) G237S probably benign Het
Zswim5 A G 4: 116,836,714 (GRCm39) E666G probably damaging 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
R1587:Ddx11 UTSW 17 66,456,251 (GRCm39) missense probably damaging 1.00
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
R9775:Ddx11 UTSW 17 66,445,157 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCCTGCAGGGAAAGTCCTTAAG -3'
(R):5'- ATCTCATTGCAAGTTCACCCAAGG -3'

Sequencing Primer
(F):5'- CAGGGAAAGTCCTTAAGTCTGATTTG -3'
(R):5'- CAAGTTCACCCAAGGGCTGAG -3'
Posted On 2022-09-12