Incidental Mutation 'R2038:Ddx27'
ID 225275
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 040045-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R2038 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 166857233-166876865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 166875675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 669 (E669K)
Ref Sequence ENSEMBL: ENSMUSP00000018143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018143] [ENSMUST00000048988] [ENSMUST00000067584]
AlphaFold Q921N6
Predicted Effect probably damaging
Transcript: ENSMUST00000018143
AA Change: E669K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999
AA Change: E669K

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: ENSMUST00000048988
SMART Domains Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501

DomainStartEndE-ValueType
Pfam:AAA_11 590 855 2.2e-17 PFAM
Pfam:AAA_19 597 684 1.7e-10 PFAM
Pfam:AAA_11 829 1033 1.4e-18 PFAM
Pfam:AAA_12 1044 1228 3.7e-42 PFAM
internal_repeat_2 1281 1374 1.33e-7 PROSPERO
internal_repeat_1 1292 1410 1.32e-16 PROSPERO
low complexity region 1422 1433 N/A INTRINSIC
internal_repeat_1 1434 1547 1.32e-16 PROSPERO
internal_repeat_2 1453 1555 1.33e-7 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000067584
SMART Domains Protein: ENSMUSP00000072867
Gene: ENSMUSG00000039501

DomainStartEndE-ValueType
Pfam:AAA_11 8 170 1.2e-17 PFAM
Pfam:AAA_12 180 364 7.4e-42 PFAM
internal_repeat_2 417 510 1.08e-6 PROSPERO
internal_repeat_1 428 546 1.81e-14 PROSPERO
low complexity region 558 569 N/A INTRINSIC
internal_repeat_1 570 683 1.81e-14 PROSPERO
internal_repeat_2 589 691 1.08e-6 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127468
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik T C 8: 125,389,762 (GRCm39) Y54C probably damaging Het
Adgrf4 A T 17: 42,978,754 (GRCm39) H196Q probably damaging Het
Astn1 T G 1: 158,484,690 (GRCm39) S918A probably benign Het
Cd79a A T 7: 24,598,782 (GRCm39) K110N probably benign Het
Cdc34b C T 11: 94,633,114 (GRCm39) Q105* probably null Het
Cdh23 T C 10: 60,148,366 (GRCm39) D2667G probably damaging Het
Clpx G A 9: 65,224,775 (GRCm39) G168R probably damaging Het
Col8a2 T C 4: 126,205,108 (GRCm39) probably benign Het
Dnah8 A T 17: 30,977,255 (GRCm39) I2898F probably damaging Het
Dus2 T C 8: 106,775,294 (GRCm39) Y274H probably damaging Het
Dync2h1 A G 9: 6,967,226 (GRCm39) S4073P probably damaging Het
Dynlrb2 G A 8: 117,241,549 (GRCm39) R31Q possibly damaging Het
Esyt1 C T 10: 128,347,820 (GRCm39) V957I probably benign Het
Fhdc1 A T 3: 84,351,868 (GRCm39) L1119Q probably benign Het
H2-T10 T C 17: 36,430,317 (GRCm39) K212E probably benign Het
H60b A T 10: 22,162,114 (GRCm39) N113I probably benign Het
Hace1 A C 10: 45,576,721 (GRCm39) K798Q probably benign Het
Hdac7 C T 15: 97,696,151 (GRCm39) R631H probably damaging Het
Kat7 T A 11: 95,190,928 (GRCm39) I153F probably benign Het
Lman1 T C 18: 66,131,681 (GRCm39) T101A probably benign Het
Mapk8 A T 14: 33,110,893 (GRCm39) C245* probably null Het
Mfhas1 T A 8: 36,058,431 (GRCm39) W969R probably damaging Het
Mlxipl A T 5: 135,135,853 (GRCm39) D26V probably damaging Het
Msh5 A G 17: 35,265,016 (GRCm39) V53A probably benign Het
Msl2 C A 9: 100,979,183 (GRCm39) A519D probably damaging Het
Nbeal1 A G 1: 60,245,503 (GRCm39) S176G probably benign Het
Ninl T A 2: 150,817,763 (GRCm39) K134* probably null Het
Or10d1 A G 9: 39,484,283 (GRCm39) S91P probably damaging Het
Or1e25 T A 11: 73,494,239 (GRCm39) Y278N probably damaging Het
Or4a68 C A 2: 89,269,689 (GRCm39) M311I probably benign Het
Pabpn1 T G 14: 55,134,609 (GRCm39) I250S probably damaging Het
Ppp4r4 G A 12: 103,542,539 (GRCm39) probably null Het
Rad51ap2 T C 12: 11,507,025 (GRCm39) S316P possibly damaging Het
Scn7a C A 2: 66,567,780 (GRCm39) W271C probably damaging Het
Set T C 2: 29,960,212 (GRCm39) S182P probably benign Het
Sez6l T C 5: 112,620,618 (GRCm39) T321A possibly damaging Het
Sfpq A T 4: 126,915,295 (GRCm39) H29L unknown Het
Slc33a1 A G 3: 63,855,577 (GRCm39) L356P probably damaging Het
Sptbn1 C G 11: 30,109,293 (GRCm39) probably null Het
Srrd C T 5: 112,486,316 (GRCm39) G179D probably benign Het
Taf4b T C 18: 14,940,456 (GRCm39) S312P probably damaging Het
Tgfbrap1 A T 1: 43,093,794 (GRCm39) L566* probably null Het
Tln2 T A 9: 67,304,935 (GRCm39) M1L probably benign Het
Ttc27 T C 17: 75,163,497 (GRCm39) F702L probably benign Het
Vmn2r54 C T 7: 12,363,637 (GRCm39) G419R possibly damaging Het
Vps13b A G 15: 35,884,887 (GRCm39) S3187G probably damaging Het
Vps13d C A 4: 144,907,685 (GRCm39) probably null Het
Vps35l T C 7: 118,411,097 (GRCm39) F677L probably damaging Het
Zfp568 A T 7: 29,688,507 (GRCm39) E23V probably null 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
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
Predicted Primers PCR Primer
(F):5'- AGTTGCTAAGGCTCTACAGGAG -3'
(R):5'- GGGCCAGGTTCAAGGATACATC -3'

Sequencing Primer
(F):5'- CTAAGGCTCTACAGGAGTTTGAC -3'
(R):5'- AGTTCCTCCAAAGCTTGATCACTG -3'
Posted On 2014-08-25