Incidental Mutation 'R8795:Ddx27'
ID 671170
Institutional Source Beutler Lab
Gene Symbol Ddx27
Ensembl Gene ENSMUSG00000017999
Gene Name DEAD box helicase 27
Synonyms DEAD (Asp-Glu-Ala-Asp) box polypeptide 27
MMRRC Submission 068636-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R8795 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 166857233-166876865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 166859730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 54 (D54G)
Ref Sequence ENSEMBL: ENSMUSP00000018143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018143] [ENSMUST00000150571] [ENSMUST00000176066]
AlphaFold Q921N6
Predicted Effect probably benign
Transcript: ENSMUST00000018143
AA Change: D54G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999
AA Change: D54G

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 probably benign
Transcript: ENSMUST00000150571
AA Change: D54G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000135265
Gene: ENSMUSG00000017999
AA Change: D54G

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
AA Change: D54G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000135815
Gene: ENSMUSG00000017999
AA Change: D54G

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 97% (72/74)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 A T 17: 45,818,598 (GRCm39) M128L probably damaging Het
Abcc12 A G 8: 87,258,213 (GRCm39) S768P possibly damaging Het
Adamts8 A T 9: 30,854,484 (GRCm39) M118L probably benign Het
Adgrl4 A G 3: 151,216,416 (GRCm39) N533S probably benign Het
Agk T G 6: 40,363,854 (GRCm39) I278R possibly damaging Het
Atr T A 9: 95,749,584 (GRCm39) W466R probably damaging Het
Cacna1h C T 17: 25,612,538 (GRCm39) V387I probably damaging Het
Cand2 T G 6: 115,763,889 (GRCm39) D270E probably benign Het
Ccdc107 C T 4: 43,495,514 (GRCm39) T139M probably damaging Het
Cenpl A G 1: 160,910,584 (GRCm39) E177G probably benign Het
Clint1 C A 11: 45,775,178 (GRCm39) Q56K probably damaging Het
Col9a1 A G 1: 24,233,812 (GRCm39) R249G unknown Het
Cpne5 C T 17: 29,423,662 (GRCm39) probably benign Het
Dync2h1 C T 9: 7,137,087 (GRCm39) E1468K probably benign Het
E130308A19Rik A T 4: 59,737,676 (GRCm39) N429I possibly damaging Het
Endov G T 11: 119,390,380 (GRCm39) G86C possibly damaging Het
Ercc5 A T 1: 44,203,089 (GRCm39) Y242F possibly damaging Het
Gabrr1 T A 4: 33,161,756 (GRCm39) V360E probably damaging Het
Gcn1 T C 5: 115,752,454 (GRCm39) I2153T probably benign Het
Gje1 T C 10: 14,593,870 (GRCm39) N8S probably benign Het
Greb1l A G 18: 10,553,739 (GRCm39) H1580R probably damaging Het
Grin1 C G 2: 25,187,468 (GRCm39) S614T probably damaging Het
Hmcn2 A G 2: 31,315,393 (GRCm39) N3714S probably benign Het
Idh1 CA CAA 1: 65,204,347 (GRCm39) probably null Het
Ifitm2 A T 7: 140,535,661 (GRCm39) H56Q probably damaging Het
Ifrd1 G A 12: 40,263,076 (GRCm39) T218I possibly damaging Het
Igkv1-99 G T 6: 68,519,370 (GRCm39) G109V Het
Impg2 A G 16: 56,080,611 (GRCm39) E805G probably benign Het
Itgb6 T A 2: 60,483,629 (GRCm39) N260Y probably damaging Het
Maneal G T 4: 124,750,483 (GRCm39) Y424* probably null Het
Map4k2 T G 19: 6,401,640 (GRCm39) C677W probably damaging Het
Med6 T C 12: 81,638,034 (GRCm39) H59R probably benign Het
Mms22l T A 4: 24,536,245 (GRCm39) D571E probably benign Het
Mroh8 A G 2: 157,067,493 (GRCm39) F622S probably damaging Het
Mrpl44 A T 1: 79,753,974 (GRCm39) Q42L probably damaging Het
Myh8 G T 11: 67,174,203 (GRCm39) probably benign Het
Ndufb2 T C 6: 39,569,586 (GRCm39) V13A probably benign Het
Nf1 T A 11: 79,316,442 (GRCm39) L499Q probably damaging Het
Opa1 T C 16: 29,448,450 (GRCm39) C874R probably damaging Het
Or1i2 T C 10: 78,447,698 (GRCm39) Y259C probably damaging Het
Or4c99 T G 2: 88,329,855 (GRCm39) V142G probably damaging Het
Or4k37 T A 2: 111,158,881 (GRCm39) L39* probably null Het
Or6c6 T C 10: 129,187,194 (GRCm39) I254T probably damaging Het
Pld3 T A 7: 27,235,286 (GRCm39) D314V possibly damaging Het
Pou6f1 A C 15: 100,485,686 (GRCm39) C114W possibly damaging Het
Prl2c1 A C 13: 28,033,389 (GRCm39) Q2P possibly damaging Het
Prl2c1 G T 13: 28,033,390 (GRCm39) Q2H probably benign Het
Pzp C A 6: 128,471,701 (GRCm39) K908N probably damaging Het
Rab6b G A 9: 103,039,825 (GRCm39) G125D probably damaging Het
Rhbdd2 C T 5: 135,663,985 (GRCm39) T69I probably benign Het
Samd9l A T 6: 3,374,221 (GRCm39) Y1013* probably null Het
Slc13a4 T A 6: 35,260,230 (GRCm39) T217S probably benign Het
Slc66a3 A G 12: 17,043,481 (GRCm39) W150R probably damaging Het
Smarcad1 T C 6: 65,049,033 (GRCm39) L253S probably benign Het
Snrpa C A 7: 26,891,034 (GRCm39) V146L possibly damaging Het
Spata31f1e A G 4: 42,792,992 (GRCm39) V380A probably benign Het
Srrt A T 5: 137,298,238 (GRCm39) D311E probably benign Het
Stk32b A T 5: 37,806,483 (GRCm39) F20L probably damaging Het
Sult2a7 T C 7: 14,224,014 (GRCm39) T136A probably benign Het
Sv2a G A 3: 96,094,396 (GRCm39) V244I probably benign Het
Tesk1 T A 4: 43,446,070 (GRCm39) probably null Het
Tmem260 A G 14: 48,689,370 (GRCm39) H63R probably damaging Het
Ugt1a6b A G 1: 88,034,794 (GRCm39) E44G probably benign Het
Unc79 A T 12: 103,074,513 (GRCm39) I1363F probably damaging Het
Usp15 T A 10: 122,988,953 (GRCm39) N255Y probably benign Het
Usp35 A G 7: 96,961,167 (GRCm39) V753A possibly damaging Het
Usp35 T C 7: 96,961,270 (GRCm39) N719D probably benign Het
Vmn2r104 T A 17: 20,262,988 (GRCm39) I158L probably benign Het
Vmn2r69 A T 7: 85,064,883 (GRCm39) M1K probably null Het
Zan C T 5: 137,396,522 (GRCm39) E4345K unknown Het
Zc3h7a A T 16: 10,965,147 (GRCm39) M662K possibly damaging Het
Zfp512 G A 5: 31,634,134 (GRCm39) V438M probably damaging Het
Zfy1 T C Y: 738,945 (GRCm39) D87G unknown Het
Zmym4 A T 4: 126,799,819 (GRCm39) V653E 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
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
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
Predicted Primers PCR Primer
(F):5'- TGTGTTGATTTGACCCCAGG -3'
(R):5'- CTCAACTTCCAAAAGCTGCTGAG -3'

Sequencing Primer
(F):5'- TGATTTGACCCCAGGTAGGC -3'
(R):5'- GCTGCTGAGCGTAAGATGAAG -3'
Posted On 2021-04-30