Incidental Mutation 'IGL03056:Ddx18'
ID 409239
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx18
Ensembl Gene ENSMUSG00000001674
Gene Name DEAD box helicase 18
Synonyms 2310005B10Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 18
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL03056
Quality Score
Status
Chromosome 1
Chromosomal Location 121481564-121495709 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 121492264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 148 (A148T)
Ref Sequence ENSEMBL: ENSMUSP00000001724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001724]
AlphaFold Q8K363
Predicted Effect probably benign
Transcript: ENSMUST00000001724
AA Change: A148T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000001724
Gene: ENSMUSG00000001674
AA Change: A148T

DomainStartEndE-ValueType
coiled coil region 2 32 N/A INTRINSIC
internal_repeat_1 36 75 1.67e-5 PROSPERO
internal_repeat_1 66 105 1.67e-5 PROSPERO
low complexity region 109 117 N/A INTRINSIC
low complexity region 127 142 N/A INTRINSIC
DEXDc 188 393 1.95e-56 SMART
low complexity region 401 417 N/A INTRINSIC
HELICc 429 510 2.84e-26 SMART
DUF4217 550 613 1.65e-26 SMART
low complexity region 620 638 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131471
Predicted Effect probably benign
Transcript: ENSMUST00000134417
SMART Domains Protein: ENSMUSP00000114149
Gene: ENSMUSG00000001674

DomainStartEndE-ValueType
Blast:DEXDc 2 47 2e-22 BLAST
HELICc 65 146 2.84e-26 SMART
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, and it is activated by Myc protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,647,862 (GRCm39) H1118R probably damaging Het
Aff1 G A 5: 103,958,947 (GRCm39) V339I probably damaging Het
Ank1 G T 8: 23,631,195 (GRCm39) V107F probably damaging Het
Aox3 T C 1: 58,198,180 (GRCm39) probably null Het
Cd160 T C 3: 96,713,127 (GRCm39) T46A probably benign Het
Cimip2a T A 2: 25,111,367 (GRCm39) M232K possibly damaging Het
Col20a1 A T 2: 180,636,682 (GRCm39) Y221F probably damaging Het
Dennd5b A G 6: 148,956,570 (GRCm39) M307T probably damaging Het
Fam216b G A 14: 78,320,223 (GRCm39) H86Y probably benign Het
Fh1 A T 1: 175,433,728 (GRCm39) C374S probably damaging Het
Fkbp14 A G 6: 54,556,529 (GRCm39) V207A probably benign Het
Gucy1a1 T C 3: 82,020,594 (GRCm39) K101R probably benign Het
Kcnk2 G T 1: 189,027,908 (GRCm39) Q116K possibly damaging Het
Kdm5b C A 1: 134,515,717 (GRCm39) Q114K probably damaging Het
Kif12 C T 4: 63,085,193 (GRCm39) R516Q probably null Het
Lca5l C T 16: 95,962,551 (GRCm39) C463Y probably benign Het
Lgsn T A 1: 31,242,705 (GRCm39) Y262* probably null Het
Lig4 A G 8: 10,022,580 (GRCm39) I400T possibly damaging Het
Mink1 T A 11: 70,503,409 (GRCm39) probably null Het
Mprip T A 11: 59,662,518 (GRCm39) I2243N probably damaging Het
Myo1f A T 17: 33,804,574 (GRCm39) Y426F probably damaging Het
Naip2 T A 13: 100,298,795 (GRCm39) S414C possibly damaging Het
Nrg1 T C 8: 32,311,451 (GRCm39) I363V possibly damaging Het
Or4f54 A T 2: 111,123,517 (GRCm39) R301S possibly damaging Het
Or52r1b A T 7: 102,690,958 (GRCm39) I86L possibly damaging Het
Serpinb9d T C 13: 33,386,736 (GRCm39) V268A probably damaging Het
Slc15a1 A G 14: 121,728,695 (GRCm39) F17L possibly damaging Het
Slc9a3 T A 13: 74,298,938 (GRCm39) V119E probably damaging Het
Sspo T A 6: 48,447,472 (GRCm39) M2346K probably benign Het
Tcf4 G T 18: 69,784,283 (GRCm39) probably benign Het
Trabd2b T C 4: 114,266,535 (GRCm39) V183A probably damaging Het
Ust T C 10: 8,083,326 (GRCm39) H350R probably benign Het
Zfp952 T A 17: 33,221,740 (GRCm39) V35E probably damaging Het
Other mutations in Ddx18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01531:Ddx18 APN 1 121,492,315 (GRCm39) missense probably benign 0.00
IGL01999:Ddx18 APN 1 121,489,457 (GRCm39) missense probably benign 0.19
IGL03388:Ddx18 APN 1 121,493,652 (GRCm39) missense possibly damaging 0.86
R0550:Ddx18 UTSW 1 121,483,104 (GRCm39) missense probably benign 0.40
R1883:Ddx18 UTSW 1 121,495,645 (GRCm39) start gained probably benign
R1940:Ddx18 UTSW 1 121,482,953 (GRCm39) missense probably damaging 1.00
R2169:Ddx18 UTSW 1 121,486,138 (GRCm39) critical splice donor site probably null
R3113:Ddx18 UTSW 1 121,493,877 (GRCm39) missense possibly damaging 0.65
R3414:Ddx18 UTSW 1 121,489,878 (GRCm39) missense probably benign
R3763:Ddx18 UTSW 1 121,489,106 (GRCm39) missense probably damaging 0.99
R4011:Ddx18 UTSW 1 121,489,810 (GRCm39) missense probably benign 0.01
R4293:Ddx18 UTSW 1 121,489,121 (GRCm39) missense probably benign 0.10
R4333:Ddx18 UTSW 1 121,492,331 (GRCm39) missense probably benign 0.01
R4964:Ddx18 UTSW 1 121,493,823 (GRCm39) missense probably benign 0.00
R5160:Ddx18 UTSW 1 121,493,608 (GRCm39) critical splice donor site probably null
R5187:Ddx18 UTSW 1 121,489,857 (GRCm39) missense probably damaging 0.98
R5259:Ddx18 UTSW 1 121,495,518 (GRCm39) critical splice donor site probably null
R5656:Ddx18 UTSW 1 121,489,087 (GRCm39) missense probably damaging 1.00
R7949:Ddx18 UTSW 1 121,483,047 (GRCm39) missense probably damaging 1.00
R8291:Ddx18 UTSW 1 121,487,904 (GRCm39) missense probably damaging 0.99
R8318:Ddx18 UTSW 1 121,493,816 (GRCm39) missense probably benign 0.13
R9053:Ddx18 UTSW 1 121,489,135 (GRCm39) missense probably damaging 1.00
R9114:Ddx18 UTSW 1 121,489,267 (GRCm39) missense probably damaging 1.00
R9621:Ddx18 UTSW 1 121,489,132 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02