Incidental Mutation 'IGL01610:Ddx27'
ID 92014
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 # IGL01610
Quality Score
Status
Chromosome 2
Chromosomal Location 166857233-166876865 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 166863964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018143] [ENSMUST00000150571] [ENSMUST00000176066]
AlphaFold Q921N6
Predicted Effect probably benign
Transcript: ENSMUST00000018143
SMART Domains Protein: ENSMUSP00000018143
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
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 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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018A14Rik T C 18: 46,332,633 (GRCm39) probably benign Het
4921524J17Rik T C 8: 86,138,871 (GRCm39) I73V probably benign Het
4930562C15Rik T A 16: 4,669,429 (GRCm39) probably benign Het
Abca15 T A 7: 119,939,867 (GRCm39) V323D probably damaging Het
Acot10 T C 15: 20,665,781 (GRCm39) Y320C probably damaging Het
Acp6 T A 3: 97,083,036 (GRCm39) V349D possibly damaging Het
Adcy9 G T 16: 4,235,978 (GRCm39) Q478K probably damaging Het
Akap13 A G 7: 75,369,928 (GRCm39) I1843V possibly damaging Het
Akap13 A T 7: 75,397,353 (GRCm39) I2528F probably damaging Het
Akap9 G A 5: 4,082,839 (GRCm39) A1988T possibly damaging Het
Alox5 C T 6: 116,390,508 (GRCm39) V490M probably damaging Het
Aspm C T 1: 139,417,408 (GRCm39) R1537* probably null Het
Bmf G A 2: 118,379,639 (GRCm39) P46S probably benign Het
Brf1 T A 12: 112,951,703 (GRCm39) H92L probably benign Het
Chchd1 A G 14: 20,753,245 (GRCm39) N35S probably benign Het
Cntnap3 C T 13: 64,905,115 (GRCm39) G889S probably damaging Het
Col6a4 T C 9: 105,924,906 (GRCm39) probably benign Het
Crispld1 A G 1: 17,816,949 (GRCm39) probably null Het
Dennd1b A G 1: 139,097,504 (GRCm39) probably benign Het
Dennd4a T C 9: 64,814,166 (GRCm39) V1461A probably damaging Het
Drc7 C T 8: 95,804,430 (GRCm39) R843W probably damaging Het
Dync2li1 A G 17: 84,935,742 (GRCm39) E13G probably damaging Het
Egf A G 3: 129,499,909 (GRCm39) probably benign Het
Hpse2 T C 19: 43,373,228 (GRCm39) S134G probably benign Het
Hydin A G 8: 111,284,345 (GRCm39) T3206A probably benign Het
Ier5l T A 2: 30,363,966 (GRCm39) S20C probably damaging Het
Il1r1 A G 1: 40,341,560 (GRCm39) E324G probably benign Het
Kdm4b C T 17: 56,660,522 (GRCm39) probably benign Het
Lztfl1 T A 9: 123,529,156 (GRCm39) E298D probably benign Het
Myo1b A T 1: 51,815,405 (GRCm39) M647K probably damaging Het
Or13a25 C T 7: 140,247,584 (GRCm39) A128V probably damaging Het
Or52z14 A T 7: 103,253,274 (GRCm39) T138S probably benign Het
Or5j1 G T 2: 86,878,632 (GRCm39) probably benign Het
Parvb A T 15: 84,187,666 (GRCm39) K258M probably damaging Het
Pcdhb11 T G 18: 37,556,412 (GRCm39) S581A probably benign Het
Pcnx2 C A 8: 126,566,372 (GRCm39) A1024S possibly damaging Het
Pde4a T C 9: 21,122,646 (GRCm39) probably benign Het
Pgr A T 9: 8,903,692 (GRCm39) H571L possibly damaging Het
Phf20 G T 2: 156,144,809 (GRCm39) E806* probably null Het
Pilra T A 5: 137,833,803 (GRCm39) I85F probably damaging Het
Pla2g2f C T 4: 138,480,622 (GRCm39) V125M probably damaging Het
Rb1cc1 A G 1: 6,318,705 (GRCm39) N708S probably benign Het
Resf1 C T 6: 149,230,449 (GRCm39) T1165M probably benign Het
Rnase4 A T 14: 51,342,378 (GRCm39) Y34F probably damaging Het
Ropn1 A T 16: 34,487,141 (GRCm39) I26F probably damaging Het
Rpl9-ps6 T A 19: 32,443,699 (GRCm39) T85S probably benign Het
Scaf8 C T 17: 3,246,124 (GRCm39) P738S probably damaging Het
Sec31a A T 5: 100,550,217 (GRCm39) probably benign Het
Sel1l C T 12: 91,784,064 (GRCm39) V459I probably damaging Het
Senp7 A T 16: 55,996,186 (GRCm39) D755V possibly damaging Het
Serpinb9d A T 13: 33,381,985 (GRCm39) K151N probably benign Het
Slc8a3 A G 12: 81,362,576 (GRCm39) F81S probably damaging Het
Spire2 T A 8: 124,083,502 (GRCm39) L162Q probably damaging Het
Syt17 A G 7: 118,033,216 (GRCm39) I264T possibly damaging Het
Tbl3 A T 17: 24,923,018 (GRCm39) V379D probably damaging Het
Tenm3 A T 8: 48,707,512 (GRCm39) L1762Q probably damaging Het
Trerf1 A T 17: 47,630,501 (GRCm39) noncoding transcript Het
Ttc13 T C 8: 125,403,083 (GRCm39) D552G probably damaging Het
Tuba3a G T 6: 125,255,529 (GRCm39) T382K possibly damaging Het
Vmn1r210 A T 13: 23,011,977 (GRCm39) V103E probably damaging Het
Vmn1r80 A G 7: 11,927,307 (GRCm39) H139R possibly damaging Het
Xpo7 A T 14: 70,940,670 (GRCm39) F141Y probably damaging Het
Zfp143 T A 7: 109,673,333 (GRCm39) Y143* probably null Het
Zfp207 T A 11: 80,276,796 (GRCm39) C26S probably damaging Het
Other mutations in Ddx27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00656:Ddx27 APN 2 166,861,886 (GRCm39) missense probably benign 0.00
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
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 2013-12-09