Incidental Mutation 'IGL02801:Ddx11'
ID 360185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx11
Ensembl Gene ENSMUSG00000035842
Gene Name DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
Synonyms CHL1, 4732462I11Rik, CHLR1, essa15a, KRG2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02801
Quality Score
Chromosome 17
Chromosomal Location 66123520-66152174 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 66148033 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 662 (C662S)
Ref Sequence ENSEMBL: ENSMUSP00000153436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163605] [ENSMUST00000224497] [ENSMUST00000224903]
AlphaFold Q6AXC6
Predicted Effect probably benign
Transcript: ENSMUST00000163605
AA Change: C636S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000130440
Gene: ENSMUSG00000035842
AA Change: C636S

DEXDc 11 408 1.14e-153 SMART
Blast:DEXDc2 430 479 6e-14 BLAST
HELICc 682 839 1.4e-66 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224497
AA Change: C662S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000224903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226095
Coding Region Coverage
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap5 A T 12: 76,328,995 (GRCm38) K400N probably benign Het
Aox2 A T 1: 58,354,177 (GRCm38) I1193F probably damaging Het
Arhgef16 A T 4: 154,291,507 (GRCm38) L10Q probably damaging Het
Arl10 T C 13: 54,575,883 (GRCm38) V106A probably benign Het
Bmi1 T C 2: 18,681,881 (GRCm38) Y24H probably damaging Het
Cd163 T A 6: 124,320,529 (GRCm38) I878K probably benign Het
Col12a1 A G 9: 79,608,414 (GRCm38) probably null Het
Csmd2 T C 4: 128,552,075 (GRCm38) probably null Het
Dcp2 G T 18: 44,417,711 (GRCm38) M417I probably damaging Het
Dhx29 G A 13: 112,964,646 (GRCm38) C1241Y probably damaging Het
Dnajc6 C T 4: 101,597,813 (GRCm38) P37L probably benign Het
Dqx1 A G 6: 83,060,495 (GRCm38) probably null Het
Dzip1 T A 14: 118,885,655 (GRCm38) K643* probably null Het
Ecel1 A G 1: 87,152,003 (GRCm38) S463P probably damaging Het
Eml5 A G 12: 98,817,845 (GRCm38) V1361A possibly damaging Het
Fads2 C A 19: 10,082,645 (GRCm38) A222S possibly damaging Het
Fancd2 A G 6: 113,593,317 (GRCm38) N1410D probably benign Het
Fbxw16 A G 9: 109,441,076 (GRCm38) F199S possibly damaging Het
Frem2 A G 3: 53,652,175 (GRCm38) V1637A possibly damaging Het
Gabrg2 A G 11: 41,912,393 (GRCm38) S442P probably damaging Het
Gprin3 T C 6: 59,354,981 (GRCm38) T114A possibly damaging Het
Hoxd8 A G 2: 74,706,568 (GRCm38) E27G probably damaging Het
Isl2 A G 9: 55,545,532 (GRCm38) probably null Het
Lamc2 T A 1: 153,136,783 (GRCm38) H715L probably benign Het
Lrif1 T C 3: 106,734,614 (GRCm38) V102A possibly damaging Het
Lrrc39 A G 3: 116,578,346 (GRCm38) N254S possibly damaging Het
Med13l T C 5: 118,745,113 (GRCm38) W1346R probably damaging Het
Melk T C 4: 44,360,930 (GRCm38) I570T probably damaging Het
Mlkl G A 8: 111,316,432 (GRCm38) T361M probably benign Het
Myo1f T A 17: 33,578,137 (GRCm38) M94K probably damaging Het
Naip1 A G 13: 100,444,368 (GRCm38) C124R probably damaging Het
Nek1 G A 8: 61,121,061 (GRCm38) probably null Het
Nrn1 C A 13: 36,730,106 (GRCm38) probably null Het
Pde1c G T 6: 56,173,666 (GRCm38) N289K probably damaging Het
Pfas G A 11: 68,988,277 (GRCm38) probably benign Het
Pms2 A T 5: 143,925,835 (GRCm38) I587F probably benign Het
Ppargc1b T C 18: 61,307,684 (GRCm38) E721G possibly damaging Het
Ppp2r1b A G 9: 50,878,827 (GRCm38) I435V probably benign Het
Psip1 C T 4: 83,458,120 (GRCm38) S494N probably benign Het
Ranbp3 T C 17: 56,710,766 (GRCm38) V474A probably benign Het
Rnf220 C T 4: 117,273,251 (GRCm38) C259Y probably damaging Het
Sdr16c6 T C 4: 4,076,603 (GRCm38) I99V probably benign Het
Slc36a1 A T 11: 55,226,053 (GRCm38) I303F probably benign Het
Slc4a1 C T 11: 102,359,146 (GRCm38) probably null Het
Syncrip A T 9: 88,479,809 (GRCm38) D84E probably damaging Het
Tbc1d9b T C 11: 50,152,830 (GRCm38) Y593H probably damaging Het
Tenm2 G T 11: 36,047,030 (GRCm38) Y1605* probably null Het
Tmem135 T A 7: 89,154,125 (GRCm38) H280L probably benign Het
Tmem229a T A 6: 24,955,122 (GRCm38) Q211L probably benign Het
Txlna T C 4: 129,640,408 (GRCm38) D5G probably damaging Het
Vmn2r57 T C 7: 41,448,632 (GRCm38) I4V probably benign Het
Wdfy3 A G 5: 101,907,587 (GRCm38) L1539S probably damaging Het
Zdhhc14 T G 17: 5,726,819 (GRCm38) probably null Het
Other mutations in Ddx11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:Ddx11 APN 17 66,134,137 (GRCm38) missense probably damaging 1.00
IGL01577:Ddx11 APN 17 66,139,403 (GRCm38) missense possibly damaging 0.95
IGL02558:Ddx11 APN 17 66,148,672 (GRCm38) missense probably damaging 0.99
R1550:Ddx11 UTSW 17 66,138,220 (GRCm38) missense probably benign 0.16
R1587:Ddx11 UTSW 17 66,149,256 (GRCm38) missense probably damaging 1.00
R1601:Ddx11 UTSW 17 66,150,385 (GRCm38) missense probably damaging 1.00
R1625:Ddx11 UTSW 17 66,150,697 (GRCm38) missense probably benign 0.45
R1714:Ddx11 UTSW 17 66,148,759 (GRCm38) missense probably damaging 1.00
R1867:Ddx11 UTSW 17 66,135,939 (GRCm38) splice site probably null
R1959:Ddx11 UTSW 17 66,130,728 (GRCm38) missense probably benign 0.27
R1980:Ddx11 UTSW 17 66,148,739 (GRCm38) missense probably damaging 0.97
R2392:Ddx11 UTSW 17 66,149,973 (GRCm38) missense probably damaging 1.00
R3118:Ddx11 UTSW 17 66,149,277 (GRCm38) missense probably damaging 1.00
R3425:Ddx11 UTSW 17 66,139,439 (GRCm38) missense possibly damaging 0.62
R3983:Ddx11 UTSW 17 66,134,130 (GRCm38) missense probably damaging 1.00
R4571:Ddx11 UTSW 17 66,130,773 (GRCm38) missense probably benign 0.20
R4576:Ddx11 UTSW 17 66,150,726 (GRCm38) missense probably damaging 1.00
R4847:Ddx11 UTSW 17 66,130,801 (GRCm38) missense probably damaging 1.00
R5010:Ddx11 UTSW 17 66,147,722 (GRCm38) missense possibly damaging 0.60
R5414:Ddx11 UTSW 17 66,148,768 (GRCm38) missense probably benign 0.40
R5610:Ddx11 UTSW 17 66,150,026 (GRCm38) missense probably damaging 1.00
R5822:Ddx11 UTSW 17 66,129,981 (GRCm38) missense probably benign 0.00
R5972:Ddx11 UTSW 17 66,148,090 (GRCm38) missense probably benign 0.05
R6017:Ddx11 UTSW 17 66,130,017 (GRCm38) missense
R6267:Ddx11 UTSW 17 66,150,729 (GRCm38) critical splice donor site probably null
R6296:Ddx11 UTSW 17 66,150,729 (GRCm38) critical splice donor site probably null
R7205:Ddx11 UTSW 17 66,130,771 (GRCm38) missense probably benign 0.25
R7531:Ddx11 UTSW 17 66,138,219 (GRCm38) missense probably benign 0.00
R7544:Ddx11 UTSW 17 66,126,285 (GRCm38) missense probably damaging 0.98
R7593:Ddx11 UTSW 17 66,126,198 (GRCm38) missense possibly damaging 0.48
R7598:Ddx11 UTSW 17 66,130,546 (GRCm38) splice site probably null
R7778:Ddx11 UTSW 17 66,130,548 (GRCm38) critical splice donor site probably null
R7824:Ddx11 UTSW 17 66,130,548 (GRCm38) critical splice donor site probably null
R8087:Ddx11 UTSW 17 66,149,993 (GRCm38) missense probably damaging 1.00
R8379:Ddx11 UTSW 17 66,130,025 (GRCm38) missense probably benign
R8885:Ddx11 UTSW 17 66,143,465 (GRCm38) missense probably benign 0.00
R9071:Ddx11 UTSW 17 66,143,741 (GRCm38) missense probably damaging 1.00
R9252:Ddx11 UTSW 17 66,150,812 (GRCm38) missense probably benign 0.01
R9398:Ddx11 UTSW 17 66,129,917 (GRCm38) missense probably benign 0.38
R9556:Ddx11 UTSW 17 66,140,212 (GRCm38) missense probably benign 0.06
R9639:Ddx11 UTSW 17 66,130,017 (GRCm38) missense
R9775:Ddx11 UTSW 17 66,138,162 (GRCm38) missense probably damaging 0.99
Posted On 2015-12-18