Incidental Mutation 'IGL01724:Ddx27'
ID105209
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx27
Ensembl Gene ENSMUSG00000017999
Gene NameDEAD (Asp-Glu-Ala-Asp) box polypeptide 27
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.952) question?
Stock #IGL01724
Quality Score
Status
Chromosome2
Chromosomal Location167015193-167034947 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 167028389 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 459 (L459P)
Ref Sequence ENSEMBL: ENSMUSP00000018143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018143] [ENSMUST00000150571] [ENSMUST00000176066]
Predicted Effect probably damaging
Transcript: ENSMUST00000018143
AA Change: L459P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999
AA Change: L459P

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
coiled coil region 78 106 N/A INTRINSIC
low complexity region 133 148 N/A INTRINSIC
low complexity region 157 166 N/A INTRINSIC
DEXDc 203 404 2.24e-56 SMART
HELICc 443 524 1.71e-29 SMART
coiled coil region 577 613 N/A INTRINSIC
low complexity region 622 629 N/A INTRINSIC
low complexity region 644 657 N/A INTRINSIC
low complexity region 679 692 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126409
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138969
Predicted Effect probably benign
Transcript: ENSMUST00000150571
SMART Domains Protein: ENSMUSP00000135265
Gene: ENSMUSG00000017999

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
coiled coil region 78 106 N/A INTRINSIC
low complexity region 133 148 N/A INTRINSIC
low complexity region 157 166 N/A INTRINSIC
Pfam:DEAD 208 292 2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176066
SMART Domains Protein: ENSMUSP00000135815
Gene: ENSMUSG00000017999

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
coiled coil region 78 106 N/A INTRINSIC
low complexity region 133 148 N/A INTRINSIC
low complexity region 157 166 N/A INTRINSIC
low complexity region 171 198 N/A INTRINSIC
Pfam:DEAD 236 309 1e-17 PFAM
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 involved in the processing of 5.8S and 28S ribosomal RNAs. More specifically, the encoded protein localizes to the nucleolus, where it interacts with the PeBoW complex to ensure proper 3' end formation of 47S rRNA. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik C T 7: 29,247,896 probably null Het
Abcc9 A G 6: 142,664,533 V635A probably benign Het
Adgre1 T A 17: 57,444,064 Y579* probably null Het
Adgrg3 T C 8: 95,039,425 F295L probably benign Het
Arhgap42 A T 9: 8,998,253 probably benign Het
Brd2 T A 17: 34,117,002 Q79L probably damaging Het
Brd2 C A 17: 34,117,001 Q79H probably damaging Het
Capn15 A G 17: 25,962,063 S705P probably damaging Het
Cebpz T A 17: 78,935,913 D104V probably benign Het
Chl1 T C 6: 103,649,573 I94T probably damaging Het
Csf2rb C T 15: 78,336,414 A52V probably damaging Het
Dhtkd1 T C 2: 5,914,840 T577A probably benign Het
Dync2h1 G A 9: 7,081,077 T2873I probably benign Het
Emg1 A G 6: 124,712,021 F8S possibly damaging Het
Fam46a A G 9: 85,325,050 C232R probably damaging Het
Fermt3 A G 19: 7,001,775 I553T probably damaging Het
Gaa A G 11: 119,275,121 D419G possibly damaging Het
Hdac10 T C 15: 89,124,709 probably benign Het
Hsf1 T A 15: 76,496,837 V122E possibly damaging Het
Lig3 C A 11: 82,790,622 T480K possibly damaging Het
Magi1 T C 6: 93,792,400 probably null Het
Mcm2 G T 6: 88,886,062 H683N probably damaging Het
Ncapg2 G T 12: 116,426,711 A427S probably damaging Het
Nkd1 T C 8: 88,522,295 F23L probably damaging Het
Olfr1501 G A 19: 13,838,861 T104M probably damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Pdx1 A T 5: 147,274,407 E146V probably damaging Het
Qrsl1 T C 10: 43,874,608 T485A probably benign Het
Slc17a4 A G 13: 23,905,533 Y134H probably benign Het
Slc24a4 A T 12: 102,218,960 M110L possibly damaging Het
Tnni3k T A 3: 154,939,626 I541F possibly damaging Het
Uhrf2 T C 19: 30,075,252 V382A probably benign Het
Vac14 T A 8: 110,618,891 M1K probably null Het
Virma A G 4: 11,528,672 E1303G probably damaging Het
Xirp2 T C 2: 67,526,067 V3724A probably benign Het
Other mutations in Ddx27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00656:Ddx27 APN 2 167019966 missense probably benign 0.00
IGL01610:Ddx27 APN 2 167022044 splice site probably benign
IGL02035:Ddx27 APN 2 167029512 missense probably benign 0.00
IGL02141:Ddx27 APN 2 167020523 missense possibly damaging 0.67
IGL02402:Ddx27 APN 2 167015325 utr 5 prime probably benign
IGL02600:Ddx27 APN 2 167026204 missense probably damaging 1.00
IGL02882:Ddx27 APN 2 167027913 missense possibly damaging 0.86
IGL03177:Ddx27 APN 2 167027920 missense possibly damaging 0.76
R1938:Ddx27 UTSW 2 167034109 missense probably damaging 1.00
R2020:Ddx27 UTSW 2 167033771 missense probably damaging 1.00
R2038:Ddx27 UTSW 2 167033755 missense probably damaging 1.00
R2116:Ddx27 UTSW 2 167027764 missense probably benign 0.23
R3103:Ddx27 UTSW 2 167026246 missense probably damaging 1.00
R4524:Ddx27 UTSW 2 167027720 nonsense probably null
R4586:Ddx27 UTSW 2 167019984 missense probably benign 0.00
R4737:Ddx27 UTSW 2 167029299 missense probably benign 0.37
R5350:Ddx27 UTSW 2 167027860 unclassified probably benign
R5568:Ddx27 UTSW 2 167029519 missense possibly damaging 0.78
R5573:Ddx27 UTSW 2 167017886 missense possibly damaging 0.87
R5606:Ddx27 UTSW 2 167019966 missense probably benign 0.00
R6026:Ddx27 UTSW 2 167033640 missense probably benign 0.00
R6699:Ddx27 UTSW 2 167020503 missense possibly damaging 0.92
R6845:Ddx27 UTSW 2 167022096 missense probably damaging 1.00
R6941:Ddx27 UTSW 2 167015377 missense possibly damaging 0.93
Posted On2014-01-21