Incidental Mutation 'R6845:Ddx27'
ID 534699
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 044951-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R6845 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 166857233-166876865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 166864016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 242 (C242R)
Ref Sequence ENSEMBL: ENSMUSP00000135815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018143] [ENSMUST00000150571] [ENSMUST00000176066]
AlphaFold Q921N6
Predicted Effect probably damaging
Transcript: ENSMUST00000018143
AA Change: C214R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999
AA Change: C214R

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 damaging
Transcript: ENSMUST00000150571
AA Change: C214R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135265
Gene: ENSMUSG00000017999
AA Change: C214R

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 damaging
Transcript: ENSMUST00000176066
AA Change: C242R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135815
Gene: ENSMUSG00000017999
AA Change: C242R

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: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 95% (53/56)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 C A 3: 59,659,539 (GRCm39) P331T probably damaging Het
Adam6a T C 12: 113,507,717 (GRCm39) L30P possibly damaging Het
Cabin1 G A 10: 75,557,342 (GRCm39) R1099W probably damaging Het
Cdon C T 9: 35,398,252 (GRCm39) Q990* probably null Het
Cit T A 5: 116,122,947 (GRCm39) L1421Q probably damaging Het
Cplane1 T C 15: 8,251,388 (GRCm39) S1887P possibly damaging Het
Dlgap5 A T 14: 47,654,020 (GRCm39) V3E possibly damaging Het
Dnah6 A T 6: 73,110,525 (GRCm39) F1687I probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Duoxa1 A T 2: 122,135,672 (GRCm39) Y142* probably null Het
F3 A G 3: 121,526,124 (GRCm39) K229R probably benign Het
Fance A G 17: 28,536,565 (GRCm39) R42G probably damaging Het
Foxs1 T C 2: 152,774,619 (GRCm39) K145E probably benign Het
Gpd1l T C 9: 114,762,785 (GRCm39) M1V probably null Het
Gpr149 T A 3: 62,511,942 (GRCm39) H19L possibly damaging Het
Hmgcs1 T C 13: 120,162,674 (GRCm39) Y213H probably damaging Het
Htra1 C A 7: 130,538,021 (GRCm39) probably benign Het
Il20ra A G 10: 19,635,059 (GRCm39) I433M probably benign Het
Il3ra G C 14: 14,346,517 (GRCm38) probably null Het
Kif11 C T 19: 37,392,565 (GRCm39) L499F probably damaging Het
Kifc3 A G 8: 95,835,307 (GRCm39) M189T probably benign Het
Klk1b3 G A 7: 43,851,127 (GRCm39) A187T probably benign Het
Klre1 T C 6: 129,561,202 (GRCm39) S188P probably damaging Het
Krtap4-13 G A 11: 99,700,192 (GRCm39) probably benign Het
Lgi4 A T 7: 30,760,510 (GRCm39) T22S probably damaging Het
Lrp10 C T 14: 54,707,145 (GRCm39) R661C probably damaging Het
Lrrtm1 A G 6: 77,220,864 (GRCm39) D107G probably benign Het
Mad1l1 C A 5: 139,994,924 (GRCm39) A701S probably damaging Het
Mia2 T A 12: 59,231,064 (GRCm39) Y1237* probably null Het
Mpp4 T C 1: 59,183,963 (GRCm39) D278G probably benign Het
Myh6 G A 14: 55,182,206 (GRCm39) S1734L probably benign Het
Nbeal1 C T 1: 60,320,469 (GRCm39) R2021* probably null Het
Nol4l T C 2: 153,258,582 (GRCm39) T602A probably benign Het
Or5b109 T A 19: 13,211,997 (GRCm39) C128S probably damaging Het
Pcdh15 A T 10: 74,466,465 (GRCm39) H894L probably benign Het
Phldb1 A T 9: 44,627,359 (GRCm39) I362N probably damaging Het
Plcxd2 T A 16: 45,830,223 (GRCm39) probably benign Het
Ppp1r13l G T 7: 19,105,323 (GRCm39) R365L probably damaging Het
Pramel16 T C 4: 143,676,394 (GRCm39) T237A probably benign Het
Rfc1 A T 5: 65,468,459 (GRCm39) S85T possibly damaging Het
Rnf133 A G 6: 23,649,341 (GRCm39) V196A possibly damaging Het
Shank3 T C 15: 89,432,528 (GRCm39) V1016A probably benign Het
Slc22a21 T C 11: 53,870,466 (GRCm39) D73G probably benign Het
Slc34a2 T A 5: 53,226,511 (GRCm39) F545I probably damaging Het
Slc4a7 T A 14: 14,775,000 (GRCm38) M810K probably damaging Het
Ss18 A T 18: 14,788,221 (GRCm39) M83K possibly damaging Het
Tkfc T C 19: 10,576,696 (GRCm39) R94G probably damaging Het
Tpp2 T A 1: 44,017,668 (GRCm39) C757* probably null Het
Trav13n-4 T C 14: 53,599,856 (GRCm39) L11P probably damaging Het
Trpm4 T C 7: 44,971,753 (GRCm39) M138V possibly damaging Het
Utp18 G A 11: 93,776,582 (GRCm39) probably benign Het
Vps33a A G 5: 123,673,335 (GRCm39) V417A probably benign Het
Zfp207 C T 11: 80,286,317 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- AGCTGGTGCCTTAAGCTCTG -3'
(R):5'- TGAGATTAGAGGACAACACCAC -3'

Sequencing Primer
(F):5'- CTCTGGAGCAAAGGCACTCAG -3'
(R):5'- TTAAGAGAACGTGCTGCTCC -3'
Posted On 2018-09-12