Incidental Mutation 'IGL03177:Ddx27'
ID 412031
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 # IGL03177
Quality Score
Status
Chromosome 2
Chromosomal Location 166857233-166876865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 166869840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 392 (N392D)
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: N392D

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999
AA Change: N392D

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 T C X: 159,221,259 (GRCm39) I23T possibly damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Anxa7 T C 14: 20,506,654 (GRCm39) I451V probably benign Het
Capn10 T C 1: 92,862,704 (GRCm39) F37L probably benign Het
Cyp4f13 A G 17: 33,165,888 (GRCm39) I30T possibly damaging Het
Dhx30 T C 9: 109,917,078 (GRCm39) H479R possibly damaging Het
Dnah5 A G 15: 28,295,545 (GRCm39) Y1426C probably damaging Het
Dnajc2 A G 5: 21,980,079 (GRCm39) probably benign Het
Fbxw8 C A 5: 118,267,045 (GRCm39) probably benign Het
Grik5 G A 7: 24,714,879 (GRCm39) T705I probably damaging Het
H2ac4 T A 13: 23,935,509 (GRCm39) probably benign Het
H2-M3 G T 17: 37,581,207 (GRCm39) V19F possibly damaging Het
Hapln2 C A 3: 87,930,078 (GRCm39) C266F probably damaging Het
Hspbp1 A T 7: 4,667,700 (GRCm39) probably null Het
Jak3 T A 8: 72,135,014 (GRCm39) V549D probably damaging Het
Mark1 A G 1: 184,677,104 (GRCm39) S49P probably damaging Het
Mdfic T C 6: 15,770,450 (GRCm39) V152A probably damaging Het
Mgat4a C A 1: 37,483,968 (GRCm39) V501L probably damaging Het
Mlxip C A 5: 123,584,044 (GRCm39) P536T possibly damaging Het
Mrpl2 A T 17: 46,959,963 (GRCm39) T213S probably damaging Het
Nos1ap C A 1: 170,218,299 (GRCm39) probably null Het
Or4a74 C T 2: 89,439,826 (GRCm39) V207I probably benign Het
Or6c1b T C 10: 129,272,684 (GRCm39) M1T probably null Het
Or8b50 T A 9: 38,517,867 (GRCm39) Y35* probably null Het
P2rx2 T C 5: 110,489,479 (GRCm39) I251V probably damaging Het
Parva T A 7: 112,172,140 (GRCm39) probably benign Het
Phf10 G A 17: 15,166,493 (GRCm39) T459I probably damaging Het
Prg4 T A 1: 150,331,354 (GRCm39) probably benign Het
Pum3 A T 19: 27,367,612 (GRCm39) I639N probably benign Het
Rlf T A 4: 121,005,276 (GRCm39) K1235* probably null Het
Ryr3 T A 2: 112,859,016 (GRCm39) I46F probably benign Het
Sall3 A G 18: 81,016,183 (GRCm39) S582P probably benign Het
Scn3b A C 9: 40,181,338 (GRCm39) Y17S probably benign Het
Senp8 A G 9: 59,644,611 (GRCm39) C169R probably damaging Het
Sgsm1 C T 5: 113,398,859 (GRCm39) A1025T probably damaging Het
Six1 T C 12: 73,090,514 (GRCm39) E217G possibly damaging Het
Slc38a8 T C 8: 120,212,251 (GRCm39) D364G probably damaging Het
Stk10 A T 11: 32,564,592 (GRCm39) E801V probably damaging Het
Ston2 A T 12: 91,614,431 (GRCm39) I659N probably damaging Het
Stxbp4 T C 11: 90,462,579 (GRCm39) Q331R probably benign Het
Synpo2 A T 3: 122,914,864 (GRCm39) V54E probably damaging Het
Tax1bp1 A G 6: 52,713,932 (GRCm39) D237G possibly damaging Het
Tmigd1 T C 11: 76,797,774 (GRCm39) Y39H probably benign Het
Vmn1r15 A G 6: 57,235,458 (GRCm39) T109A probably benign Het
Vmn1r209 T C 13: 22,990,024 (GRCm39) Y222C possibly damaging Het
Zfp809 A G 9: 22,146,347 (GRCm39) D12G probably damaging 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
IGL02882:Ddx27 APN 2 166,869,833 (GRCm39) missense possibly damaging 0.86
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 2016-08-02