Incidental Mutation 'IGL02882:Ddx27'
ID 362837
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx27
Ensembl Gene ENSMUSG00000017999
Gene Name DEAD box helicase 27
Synonyms DEAD (Asp-Glu-Ala-Asp) box polypeptide 27
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # IGL02882
Quality Score
Status
Chromosome 2
Chromosomal Location 166857233-166876865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 166869833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 389 (I389M)
Ref Sequence ENSEMBL: ENSMUSP00000018143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018143] [ENSMUST00000150571] [ENSMUST00000176066]
AlphaFold Q921N6
Predicted Effect possibly damaging
Transcript: ENSMUST00000018143
AA Change: I389M

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999
AA Change: I389M

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A T 9: 44,188,786 (GRCm39) L469* probably null Het
Calr3 T A 8: 73,188,665 (GRCm39) Y46F probably damaging Het
Clcn4 A G 7: 7,293,464 (GRCm39) C491R probably damaging Het
Col6a5 G T 9: 105,811,520 (GRCm39) D666E unknown Het
D130052B06Rik G A 11: 33,573,780 (GRCm39) V126M probably damaging Het
Dgka T C 10: 128,569,253 (GRCm39) I160V possibly damaging Het
Enpp6 T C 8: 47,483,567 (GRCm39) S120P probably damaging Het
Ezh1 A G 11: 101,094,115 (GRCm39) I459T probably benign Het
Fam91a1 A G 15: 58,324,910 (GRCm39) probably benign Het
Foxn2 T C 17: 88,770,375 (GRCm39) L74P probably damaging Het
Fscn2 T C 11: 120,253,325 (GRCm39) V264A probably benign Het
Gmeb2 G A 2: 180,907,676 (GRCm39) T54I probably damaging Het
Hmcn2 A T 2: 31,303,379 (GRCm39) K3007* probably null Het
Ice1 A T 13: 70,772,593 (GRCm39) probably benign Het
Lgi1 A G 19: 38,272,453 (GRCm39) D84G probably benign Het
Mier2 T C 10: 79,383,555 (GRCm39) I196V probably damaging Het
Nipal2 T C 15: 34,600,223 (GRCm39) Y198C probably damaging Het
Npas2 A C 1: 39,352,077 (GRCm39) S176R probably benign Het
Or8b50 A T 9: 38,518,234 (GRCm39) I158F probably benign Het
Pam A C 1: 97,768,092 (GRCm39) C713G probably damaging Het
Pcdh17 C A 14: 84,684,101 (GRCm39) D189E probably damaging Het
Pcdhb8 T A 18: 37,489,276 (GRCm39) I318N possibly damaging Het
Pcyt2 A G 11: 120,502,233 (GRCm39) S300P possibly damaging Het
Pkdrej A G 15: 85,701,497 (GRCm39) S1480P probably damaging Het
Plekhd1 G A 12: 80,765,781 (GRCm39) probably null Het
Plxna2 A T 1: 194,444,878 (GRCm39) S757C probably damaging Het
Prkdc A T 16: 15,469,383 (GRCm39) K163* probably null Het
Serpina3f A T 12: 104,183,263 (GRCm39) T42S probably damaging Het
Sesn2 T C 4: 132,221,104 (GRCm39) N456D probably benign Het
Tas2r105 A T 6: 131,664,143 (GRCm39) L95Q possibly damaging Het
Tln1 A G 4: 43,539,522 (GRCm39) V1600A probably benign Het
Zfp764l1 A G 7: 126,991,424 (GRCm39) Y188H probably damaging Het
Zfp808 A G 13: 62,320,994 (GRCm39) K741R probably benign Het
Other mutations in Ddx27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00656:Ddx27 APN 2 166,861,886 (GRCm39) missense probably benign 0.00
IGL01610:Ddx27 APN 2 166,863,964 (GRCm39) splice site probably benign
IGL01724:Ddx27 APN 2 166,870,309 (GRCm39) missense probably damaging 1.00
IGL02035:Ddx27 APN 2 166,871,432 (GRCm39) missense probably benign 0.00
IGL02141:Ddx27 APN 2 166,862,443 (GRCm39) missense possibly damaging 0.67
IGL02402:Ddx27 APN 2 166,857,245 (GRCm39) utr 5 prime probably benign
IGL02600:Ddx27 APN 2 166,868,124 (GRCm39) missense probably damaging 1.00
IGL03177:Ddx27 APN 2 166,869,840 (GRCm39) missense possibly damaging 0.76
R1938:Ddx27 UTSW 2 166,876,029 (GRCm39) missense probably damaging 1.00
R2020:Ddx27 UTSW 2 166,875,691 (GRCm39) missense probably damaging 1.00
R2038:Ddx27 UTSW 2 166,875,675 (GRCm39) missense probably damaging 1.00
R2116:Ddx27 UTSW 2 166,869,684 (GRCm39) missense probably benign 0.23
R3103:Ddx27 UTSW 2 166,868,166 (GRCm39) missense probably damaging 1.00
R4524:Ddx27 UTSW 2 166,869,640 (GRCm39) nonsense probably null
R4586:Ddx27 UTSW 2 166,861,904 (GRCm39) missense probably benign 0.00
R4737:Ddx27 UTSW 2 166,871,219 (GRCm39) missense probably benign 0.37
R5350:Ddx27 UTSW 2 166,869,780 (GRCm39) unclassified probably benign
R5568:Ddx27 UTSW 2 166,871,439 (GRCm39) missense possibly damaging 0.78
R5573:Ddx27 UTSW 2 166,859,806 (GRCm39) missense possibly damaging 0.87
R5606:Ddx27 UTSW 2 166,861,886 (GRCm39) missense probably benign 0.00
R6026:Ddx27 UTSW 2 166,875,560 (GRCm39) missense probably benign 0.00
R6699:Ddx27 UTSW 2 166,862,423 (GRCm39) missense possibly damaging 0.92
R6845:Ddx27 UTSW 2 166,864,016 (GRCm39) missense probably damaging 1.00
R6941:Ddx27 UTSW 2 166,857,297 (GRCm39) missense possibly damaging 0.93
R7352:Ddx27 UTSW 2 166,871,433 (GRCm39) missense probably benign 0.03
R7765:Ddx27 UTSW 2 166,869,879 (GRCm39) missense probably damaging 1.00
R8795:Ddx27 UTSW 2 166,859,730 (GRCm39) missense probably benign 0.01
R9220:Ddx27 UTSW 2 166,871,433 (GRCm39) missense probably benign 0.03
R9347:Ddx27 UTSW 2 166,861,950 (GRCm39) missense possibly damaging 0.91
Z1177:Ddx27 UTSW 2 166,875,761 (GRCm39) missense probably benign 0.01
Posted On 2015-12-18