Incidental Mutation 'IGL01724:Ddx27'
ID 105209
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 # IGL01724
Quality Score
Status
Chromosome 2
Chromosomal Location 166857233-166876865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 166870309 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q921N6
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: 28,947,321 (GRCm39) probably null Het
Abcc9 A G 6: 142,610,259 (GRCm39) V635A probably benign Het
Adgre1 T A 17: 57,751,064 (GRCm39) Y579* probably null Het
Adgrg3 T C 8: 95,766,053 (GRCm39) F295L probably benign Het
Arhgap42 A T 9: 8,998,254 (GRCm39) probably benign Het
Brd2 T A 17: 34,335,976 (GRCm39) Q79L probably damaging Het
Brd2 C A 17: 34,335,975 (GRCm39) Q79H probably damaging Het
Capn15 A G 17: 26,181,037 (GRCm39) S705P probably damaging Het
Cebpz T A 17: 79,243,342 (GRCm39) D104V probably benign Het
Chl1 T C 6: 103,626,534 (GRCm39) I94T probably damaging Het
Csf2rb C T 15: 78,220,614 (GRCm39) A52V probably damaging Het
Dhtkd1 T C 2: 5,919,651 (GRCm39) T577A probably benign Het
Dync2h1 G A 9: 7,081,077 (GRCm39) T2873I probably benign Het
Emg1 A G 6: 124,688,984 (GRCm39) F8S possibly damaging Het
Fermt3 A G 19: 6,979,143 (GRCm39) I553T probably damaging Het
Gaa A G 11: 119,165,947 (GRCm39) D419G possibly damaging Het
Hdac10 T C 15: 89,008,912 (GRCm39) probably benign Het
Hsf1 T A 15: 76,381,037 (GRCm39) V122E possibly damaging Het
Lig3 C A 11: 82,681,448 (GRCm39) T480K possibly damaging Het
Magi1 T C 6: 93,769,381 (GRCm39) probably null Het
Mcm2 G T 6: 88,863,044 (GRCm39) H683N probably damaging Het
Ncapg2 G T 12: 116,390,331 (GRCm39) A427S probably damaging Het
Nkd1 T C 8: 89,248,923 (GRCm39) F23L probably damaging Het
Or9i2 G A 19: 13,816,225 (GRCm39) T104M probably damaging Het
Pcdhb5 T G 18: 37,454,075 (GRCm39) S152A probably benign Het
Pdx1 A T 5: 147,211,217 (GRCm39) E146V probably damaging Het
Qrsl1 T C 10: 43,750,604 (GRCm39) T485A probably benign Het
Slc17a4 A G 13: 24,089,516 (GRCm39) Y134H probably benign Het
Slc24a4 A T 12: 102,185,219 (GRCm39) M110L possibly damaging Het
Tent5a A G 9: 85,207,103 (GRCm39) C232R probably damaging Het
Tnni3k T A 3: 154,645,263 (GRCm39) I541F possibly damaging Het
Uhrf2 T C 19: 30,052,652 (GRCm39) V382A probably benign Het
Vac14 T A 8: 111,345,523 (GRCm39) M1K probably null Het
Virma A G 4: 11,528,672 (GRCm39) E1303G probably damaging Het
Xirp2 T C 2: 67,356,411 (GRCm39) V3724A 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
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
IGL02882:Ddx27 APN 2 166,869,833 (GRCm39) missense possibly damaging 0.86
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 2014-01-21