Incidental Mutation 'R2116:Ddx27'
ID 233114
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 040120-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R2116 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 166857233-166876865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 166869684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 373 (D373A)
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: D373A

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999
AA Change: D373A

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.9%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A G 15: 94,253,243 (GRCm39) C377R probably damaging Het
Adgrv1 T C 13: 81,677,132 (GRCm39) K1180E probably benign Het
Ankle1 A G 8: 71,860,562 (GRCm39) T340A probably benign Het
Armc2 A T 10: 41,839,663 (GRCm39) L434Q probably damaging Het
Ash1l C T 3: 88,890,571 (GRCm39) L817F probably benign Het
Atm C T 9: 53,412,269 (GRCm39) E960K probably benign Het
Bend5 G T 4: 111,272,436 (GRCm39) R22L probably benign Het
Cacng6 C T 7: 3,479,020 (GRCm39) T133I probably damaging Het
Cep120 G A 18: 53,873,208 (GRCm39) T41I probably damaging Het
Ciz1 T C 2: 32,257,477 (GRCm39) L174P probably damaging Het
Cmah G A 13: 24,612,880 (GRCm39) D26N probably benign Het
Cnot1 A C 8: 96,452,781 (GRCm39) D2098E probably damaging Het
Cnot10 A C 9: 114,455,504 (GRCm39) S207R probably damaging Het
Col14a1 A G 15: 55,271,160 (GRCm39) T638A unknown Het
Coro1a T C 7: 126,301,194 (GRCm39) E102G probably damaging Het
Defb38 A T 8: 19,073,483 (GRCm39) Y63* probably null Het
Dhx37 A G 5: 125,498,166 (GRCm39) V681A probably damaging Het
Dmxl1 T A 18: 50,011,884 (GRCm39) L1347H probably damaging Het
Dnmt3l C A 10: 77,899,130 (GRCm39) L110I probably damaging Het
Gcn1 A T 5: 115,736,884 (GRCm39) M1276L probably benign Het
Gfus A G 15: 75,797,991 (GRCm39) F223S probably damaging Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gm12790 G A 4: 101,824,848 (GRCm39) T140I possibly damaging Het
Golga3 A T 5: 110,335,261 (GRCm39) M192L probably damaging Het
H2-T22 A T 17: 36,349,949 (GRCm39) probably null Het
Hectd2 C A 19: 36,591,824 (GRCm39) T675K probably damaging Het
Hinfp T C 9: 44,210,912 (GRCm39) N116S probably damaging Het
Hoatz A G 9: 51,012,384 (GRCm39) S79P possibly damaging Het
Hs6st3 T A 14: 120,106,699 (GRCm39) L369Q probably damaging Het
Ift74 A G 4: 94,515,496 (GRCm39) T138A probably benign Het
Ipo7 T A 7: 109,650,325 (GRCm39) Y792N probably damaging Het
Jak1 A T 4: 101,036,872 (GRCm39) I256N probably damaging Het
Kcnd2 T A 6: 21,216,431 (GRCm39) L45Q probably damaging Het
Klhl3 A T 13: 58,166,805 (GRCm39) V342E probably damaging Het
Krt28 A C 11: 99,255,943 (GRCm39) S439A probably benign Het
L3mbtl1 T A 2: 162,801,990 (GRCm39) probably null Het
Lrch1 G A 14: 75,022,971 (GRCm39) P634L probably damaging Het
Lrp1 C T 10: 127,412,362 (GRCm39) W1314* probably null Het
Lrwd1 T A 5: 136,159,332 (GRCm39) Y431F probably damaging Het
Lyst A G 13: 13,810,286 (GRCm39) E652G probably damaging Het
Mageb3 A G 2: 121,785,033 (GRCm39) V223A probably damaging Het
Map1b G T 13: 99,567,152 (GRCm39) S1856R unknown Het
Mecom T A 3: 30,019,607 (GRCm39) Q759L probably damaging Het
Mfsd6 T A 1: 52,700,134 (GRCm39) R671S probably benign Het
Mllt10 A G 2: 18,167,380 (GRCm39) N435S probably benign Het
Mta2 T C 19: 8,920,880 (GRCm39) I27T probably damaging Het
Ndufab1 A G 7: 121,700,987 (GRCm39) L20P probably benign Het
Nfatc2ip T A 7: 125,984,280 (GRCm39) Y371F probably damaging Het
Nhlrc1 A C 13: 47,167,661 (GRCm39) S199A probably benign Het
Nipa1 G T 7: 55,635,273 (GRCm39) N113K possibly damaging Het
Nlgn1 T A 3: 26,187,414 (GRCm39) N157I probably damaging Het
Nlrp1a T A 11: 71,005,326 (GRCm39) K630* probably null Het
Nmi T C 2: 51,838,719 (GRCm39) T272A probably benign Het
Nr1i3 T A 1: 171,046,163 (GRCm39) L181Q probably damaging Het
Nrxn1 A T 17: 91,011,705 (GRCm39) I308K probably damaging Het
Nup50l A T 6: 96,141,841 (GRCm39) V401E probably damaging Het
Or14a256 T C 7: 86,265,286 (GRCm39) D189G probably benign Het
Or52z15 T C 7: 103,332,519 (GRCm39) I188T probably damaging Het
Or5al7 A T 2: 85,993,073 (GRCm39) Y73* probably null Het
Or8g50 T A 9: 39,648,600 (GRCm39) M163K probably damaging Het
Osgin2 G A 4: 16,008,648 (GRCm39) T51M probably damaging Het
Pkd1l2 T A 8: 117,757,461 (GRCm39) T1526S possibly damaging Het
Pkhd1l1 G T 15: 44,432,878 (GRCm39) A3378S probably damaging Het
Plg A T 17: 12,603,364 (GRCm39) D90V probably damaging Het
Plppr3 A T 10: 79,701,572 (GRCm39) D423E probably benign Het
Prpf8 T C 11: 75,378,547 (GRCm39) V66A possibly damaging Het
Psg19 A T 7: 18,528,180 (GRCm39) Y188N probably damaging Het
Ptgs1 C A 2: 36,127,708 (GRCm39) S89* probably null Het
Ptx3 T A 3: 66,132,187 (GRCm39) I236N probably damaging Het
Pygm A G 19: 6,436,438 (GRCm39) N100S probably damaging Het
Reps1 A G 10: 18,000,668 (GRCm39) E760G probably damaging Het
Rgs7 T A 1: 174,918,639 (GRCm39) N235I probably damaging Het
Rgsl1 T A 1: 153,693,295 (GRCm39) M629L probably benign Het
Rrh T C 3: 129,604,336 (GRCm39) I288M probably damaging Het
Sctr A T 1: 119,959,312 (GRCm39) D70V probably damaging Het
Sec11c A T 18: 65,933,720 (GRCm39) T9S probably benign Het
Spty2d1 C T 7: 46,645,933 (GRCm39) G570D probably damaging Het
Stx1b T C 7: 127,410,077 (GRCm39) E153G probably damaging Het
Synm G A 7: 67,383,343 (GRCm39) R1440W probably benign Het
Tcof1 T C 18: 60,965,857 (GRCm39) E415G possibly damaging Het
Tgfb1i1 G A 7: 127,851,977 (GRCm39) R353H probably damaging Het
Thbs3 T C 3: 89,126,699 (GRCm39) F271S probably damaging Het
Tlr5 T C 1: 182,803,194 (GRCm39) W833R probably damaging Het
Tmem132b A G 5: 125,699,615 (GRCm39) E92G probably damaging Het
Tmem221 T C 8: 72,010,472 (GRCm39) Y133C probably damaging Het
Tmem229b-ps A G 10: 53,351,552 (GRCm39) noncoding transcript Het
Tnxb T C 17: 34,891,201 (GRCm39) C515R probably damaging Het
Trp53rka T A 2: 165,333,415 (GRCm39) N158I probably damaging Het
Usp20 T A 2: 30,906,317 (GRCm39) C562S probably damaging Het
Usp31 C T 7: 121,247,919 (GRCm39) V1175M probably benign Het
Veph1 G T 3: 65,964,610 (GRCm39) N806K probably benign Het
Vmn1r223 G T 13: 23,433,832 (GRCm39) C142F probably damaging Het
Vmn2r80 A T 10: 79,030,558 (GRCm39) S795C probably benign Het
Wdr41 A G 13: 95,151,537 (GRCm39) probably null Het
Zfp617 A T 8: 72,686,009 (GRCm39) H113L probably benign Het
Zfp715 T A 7: 42,947,370 (GRCm39) R863S possibly 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
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
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'- AGCCTGAGTCCTGAGTACAG -3'
(R):5'- TCCGTATGAACTCTTGCCG -3'

Sequencing Primer
(F):5'- TGAGTCCTGAGTACAGCCGTG -3'
(R):5'- AAGGGAGCGACATCTGTGTTG -3'
Posted On 2014-09-18