Incidental Mutation 'IGL01448:Ddx11'
ID 84502
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 # IGL01448
Quality Score
Chromosome 17
Chromosomal Location 66123520-66152174 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66134137 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 218 (V218A)
Ref Sequence ENSEMBL: ENSMUSP00000130440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163605] [ENSMUST00000224497] [ENSMUST00000224903] [ENSMUST00000225956]
AlphaFold Q6AXC6
Predicted Effect probably damaging
Transcript: ENSMUST00000163605
AA Change: V218A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130440
Gene: ENSMUSG00000035842
AA Change: V218A

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: ENSMUST00000223801
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223805
Predicted Effect probably damaging
Transcript: ENSMUST00000224497
AA Change: V244A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000224903
AA Change: V244A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225687
Predicted Effect probably benign
Transcript: ENSMUST00000225956
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,405,847 (GRCm38) E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,633 (GRCm38) probably benign Het
2610303G11Rik T A 9: 98,186,709 (GRCm38) noncoding transcript Het
4931414P19Rik T C 14: 54,585,960 (GRCm38) D320G possibly damaging Het
Adamts6 G A 13: 104,297,164 (GRCm38) E34K probably damaging Het
Alms1 T A 6: 85,677,899 (GRCm38) N3142K possibly damaging Het
Anapc7 G A 5: 122,428,213 (GRCm38) A62T probably damaging Het
Atp8b3 G A 10: 80,520,422 (GRCm38) P1152L probably benign Het
Cc2d2a C T 5: 43,684,185 (GRCm38) T181I possibly damaging Het
Celsr2 A G 3: 108,393,239 (GRCm38) L2835P probably damaging Het
Ctns A T 11: 73,188,722 (GRCm38) V99D possibly damaging Het
Dchs1 T C 7: 105,771,927 (GRCm38) R429G probably damaging Het
Eftud2 G A 11: 102,865,563 (GRCm38) probably benign Het
Erich1 G T 8: 14,078,853 (GRCm38) T29N possibly damaging Het
Exosc8 T C 3: 54,729,265 (GRCm38) E215G probably damaging Het
Fam184a G T 10: 53,698,949 (GRCm38) A188E probably benign Het
Fign A G 2: 63,979,688 (GRCm38) S413P probably damaging Het
Fkbp6 A G 5: 135,349,696 (GRCm38) S33P probably damaging Het
Glb1 A G 9: 114,450,677 (GRCm38) probably benign Het
H2-Q1 T C 17: 35,323,461 (GRCm38) probably benign Het
Helz2 T C 2: 181,233,977 (GRCm38) T1575A probably damaging Het
Il18r1 A G 1: 40,474,730 (GRCm38) E32G probably damaging Het
Ints5 C T 19: 8,895,487 (GRCm38) P270L possibly damaging Het
Itga7 G T 10: 128,949,468 (GRCm38) E847* probably null Het
Kcns3 A C 12: 11,091,643 (GRCm38) S352A possibly damaging Het
Kiz A G 2: 146,863,801 (GRCm38) K94E probably benign Het
Lin7b C T 7: 45,369,200 (GRCm38) V12M probably damaging Het
Myo18b A T 5: 112,811,704 (GRCm38) I1409N probably damaging Het
Myo5b A G 18: 74,644,090 (GRCm38) H407R probably damaging Het
Nelfa T C 5: 33,898,802 (GRCm38) T506A probably damaging Het
Olfr497 T A 7: 108,423,028 (GRCm38) Y152* probably null Het
Olfr763 A G 10: 129,011,860 (GRCm38) T192A probably damaging Het
Olfr816 A G 10: 129,912,245 (GRCm38) I11T possibly damaging Het
Olfr984 A T 9: 40,101,082 (GRCm38) M136K probably damaging Het
Pclo A C 5: 14,676,394 (GRCm38) probably benign Het
Pes1 G A 11: 3,977,979 (GRCm38) E544K possibly damaging Het
Rabgap1l A G 1: 160,740,745 (GRCm38) probably benign Het
Rapgef2 T C 3: 79,068,937 (GRCm38) M1521V probably benign Het
Rapgef2 C T 3: 79,103,962 (GRCm38) probably null Het
Reln A G 5: 22,040,405 (GRCm38) V735A probably benign Het
Slc2a4 A G 11: 69,945,076 (GRCm38) S316P possibly damaging Het
Smarce1 C T 11: 99,210,187 (GRCm38) G373E possibly damaging Het
Spata31d1a T A 13: 59,701,559 (GRCm38) R918S probably benign Het
St3gal4 T C 9: 35,052,331 (GRCm38) K227R probably benign Het
Stra6l T A 4: 45,864,864 (GRCm38) probably null Het
Stxbp5l T C 16: 37,215,979 (GRCm38) I425V probably damaging Het
Tcaf2 T C 6: 42,630,328 (GRCm38) T231A probably benign Het
Tiparp G T 3: 65,552,609 (GRCm38) G442* probably null Het
Tnks A G 8: 34,839,982 (GRCm38) Y1138H probably damaging Het
Vezt T A 10: 93,996,857 (GRCm38) I231F probably damaging Het
Vmn2r4 A T 3: 64,406,395 (GRCm38) N388K probably damaging Het
Zbed3 A G 13: 95,336,634 (GRCm38) K189E possibly damaging Het
Zfp512b T C 2: 181,587,785 (GRCm38) T625A possibly damaging Het
Zfp827 A T 8: 79,060,733 (GRCm38) Q176L possibly damaging Het
Other mutations in Ddx11
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02801:Ddx11 APN 17 66,148,033 (GRCm38) missense probably benign 0.03
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 2013-11-11