Incidental Mutation 'R7257:Ddx55'
ID 564328
Institutional Source Beutler Lab
Gene Symbol Ddx55
Ensembl Gene ENSMUSG00000029389
Gene Name DEAD box helicase 55
Synonyms DEAD (Asp-Glu-Ala-Asp) box polypeptide 55, 2810021H22Rik
MMRRC Submission 045318-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7257 (G1)
Quality Score 203.009
Status Validated
Chromosome 5
Chromosomal Location 124690927-124707723 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124698784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 249 (C249S)
Ref Sequence ENSEMBL: ENSMUSP00000070279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071057] [ENSMUST00000111438] [ENSMUST00000131631]
AlphaFold Q6ZPL9
Predicted Effect possibly damaging
Transcript: ENSMUST00000071057
AA Change: C249S

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000070279
Gene: ENSMUSG00000029389
AA Change: C249S

DomainStartEndE-ValueType
DEXDc 28 245 3.15e-51 SMART
HELICc 281 363 3.69e-25 SMART
DUF4217 402 465 1.44e-26 SMART
low complexity region 491 506 N/A INTRINSIC
low complexity region 517 540 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111438
AA Change: C249S

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107065
Gene: ENSMUSG00000029389
AA Change: C249S

DomainStartEndE-ValueType
DEXDc 28 245 3.15e-51 SMART
HELICc 281 363 3.69e-25 SMART
DUF4217 398 461 1.44e-26 SMART
low complexity region 487 502 N/A INTRINSIC
low complexity region 513 536 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131631
SMART Domains Protein: ENSMUSP00000143462
Gene: ENSMUSG00000029389

DomainStartEndE-ValueType
Pfam:DEAD 33 125 6.4e-12 PFAM
Meta Mutation Damage Score 0.6611 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (77/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of protein family containing a characteristic Asp-Glu-Ala-Asp (DEAD) motif. These proteins are putative RNA helicases, and may be involved in a range of nuclear processes including translational initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Multiple alternatively spliced transcript variants have been found for this gene. Pseudogenes have been identified on chromosomes 1 and 12. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A T 6: 88,816,434 (GRCm39) V120E probably benign Het
Acot11 G A 4: 106,615,599 (GRCm39) T284M probably damaging Het
Adk G T 14: 21,102,739 (GRCm39) K11N probably damaging Het
Akr1c14 T A 13: 4,138,966 (GRCm39) N316K probably benign Het
AL732309.1 A T 2: 25,135,851 (GRCm39) V121D probably benign Het
Amh C A 10: 80,642,487 (GRCm39) Q257K probably benign Het
Antxrl T G 14: 33,787,806 (GRCm39) H276Q probably benign Het
Atp5po G A 16: 91,723,755 (GRCm39) T105M probably damaging Het
Atxn2 T G 5: 121,923,880 (GRCm39) N734K possibly damaging Het
B3gat3 T A 19: 8,903,102 (GRCm39) V153D probably benign Het
Brd2 A G 17: 34,332,796 (GRCm39) V528A probably damaging Het
Camk2g T C 14: 20,797,907 (GRCm39) S335G probably benign Het
Cbln2 T A 18: 86,734,859 (GRCm39) W211R probably damaging Het
Cry2 A T 2: 92,243,326 (GRCm39) I505N possibly damaging Het
Dglucy A G 12: 100,808,997 (GRCm39) T232A probably damaging Het
Dhx32 A G 7: 133,361,206 (GRCm39) Y76H probably benign Het
Dmac2l T C 12: 69,788,443 (GRCm39) I114T probably damaging Het
Dock7 T A 4: 98,861,649 (GRCm39) N1356I unknown Het
Dock8 T A 19: 25,104,449 (GRCm39) N710K probably benign Het
Dync1i2 T A 2: 71,079,700 (GRCm39) N391K possibly damaging Het
Ect2 A G 3: 27,192,684 (GRCm39) S420P probably damaging Het
Efcab5 T A 11: 77,028,605 (GRCm39) E242V probably damaging Het
Fam83g T A 11: 61,575,579 (GRCm39) Y74N probably damaging Het
Fbxo34 T A 14: 47,738,329 (GRCm39) probably null Het
Flt4 A G 11: 49,516,836 (GRCm39) T208A probably benign Het
Fxyd5 T A 7: 30,734,576 (GRCm39) H183L unknown Het
Gpr150 T G 13: 76,204,585 (GRCm39) D120A probably benign Het
Grm7 A G 6: 110,623,079 (GRCm39) Y84C probably damaging Het
Ighmbp2 A G 19: 3,316,405 (GRCm39) S562P probably damaging Het
Itga7 A G 10: 128,780,282 (GRCm39) Y530C possibly damaging Het
Itpr3 T A 17: 27,337,535 (GRCm39) D2448E probably benign Het
Mmp17 C A 5: 129,672,697 (GRCm39) H216Q probably benign Het
Mns1 C T 9: 72,360,097 (GRCm39) R416W probably damaging Het
Mog A G 17: 37,334,019 (GRCm39) S25P unknown Het
Myh2 A G 11: 67,071,976 (GRCm39) K568R possibly damaging Het
Myh7 A T 14: 55,209,947 (GRCm39) probably null Het
Mymk A T 2: 26,957,380 (GRCm39) W79R probably damaging Het
Ncoa4 T G 14: 31,899,326 (GRCm39) L623R probably damaging Het
Oca2 G A 7: 55,929,286 (GRCm39) probably benign Het
Odam A C 5: 88,035,404 (GRCm39) S123R probably benign Het
Or14c39 T A 7: 86,344,012 (GRCm39) M116K probably damaging Het
Or2w1 A G 13: 21,317,427 (GRCm39) T161A probably benign Het
Or51f1d T C 7: 102,700,837 (GRCm39) F111L probably benign Het
Or5d16 A G 2: 87,773,915 (GRCm39) F19S probably damaging Het
Or6c69 T A 10: 129,748,156 (GRCm39) probably benign Het
Or6c8b C T 10: 128,882,324 (GRCm39) V203M probably benign Het
Ovch2 C T 7: 107,393,640 (GRCm39) C162Y probably damaging Het
Padi1 C A 4: 140,556,782 (GRCm39) G142C probably damaging Het
Pcdhga4 A G 18: 37,820,451 (GRCm39) I667V probably damaging Het
Pfas A T 11: 68,883,785 (GRCm39) V624E probably damaging Het
Phb1 A T 11: 95,568,917 (GRCm39) E184V probably damaging Het
Phlpp2 G T 8: 110,666,820 (GRCm39) M1116I probably benign Het
Pip5kl1 T C 2: 32,470,443 (GRCm39) probably null Het
Pitpnm2 T A 5: 124,263,419 (GRCm39) I824F possibly damaging Het
Pla2g4c G A 7: 13,059,669 (GRCm39) S2N possibly damaging Het
Pla2r1 A T 2: 60,257,969 (GRCm39) probably null Het
Pole2 T C 12: 69,249,684 (GRCm39) D521G probably damaging Het
Ptch1 T C 13: 63,721,108 (GRCm39) K54E not run Het
Rapgef2 A T 3: 78,989,934 (GRCm39) L931Q probably damaging Het
Rassf3 G A 10: 121,248,924 (GRCm39) Q206* probably null Het
Rnf123 T A 9: 107,946,228 (GRCm39) T316S probably damaging Het
Rnf138 T A 18: 21,141,750 (GRCm39) probably null Het
Septin3 G A 15: 82,173,414 (GRCm39) A249T probably damaging Het
Slc35a4 A T 18: 36,812,669 (GRCm39) D3V unknown Het
Sltm T A 9: 70,451,247 (GRCm39) probably null Het
Smarca2 C T 19: 26,631,864 (GRCm39) Q560* probably null Het
Tcl1b1 A T 12: 105,130,790 (GRCm39) D91V probably damaging Het
Tirap A T 9: 35,100,330 (GRCm39) V118E probably damaging Het
Tlr5 T A 1: 182,801,798 (GRCm39) Y367* probably null Het
Tmcc1 A G 6: 116,084,299 (GRCm39) F5L probably benign Het
Tnxb A G 17: 34,935,475 (GRCm39) M2592V probably benign Het
Trim66 T A 7: 109,059,451 (GRCm39) E931V probably damaging Het
Ttn A G 2: 76,571,438 (GRCm39) I26485T probably damaging Het
Veph1 C A 3: 66,065,703 (GRCm39) V455L probably benign Het
Vmn1r125 A T 7: 21,006,750 (GRCm39) H216L probably damaging Het
Wdr17 T A 8: 55,085,522 (GRCm39) E1200D probably benign Het
Zbtb37 T A 1: 160,860,231 (GRCm39) N25Y probably damaging Het
Other mutations in Ddx55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02237:Ddx55 APN 5 124,705,958 (GRCm39) missense probably damaging 1.00
IGL03356:Ddx55 APN 5 124,692,816 (GRCm39) missense possibly damaging 0.95
R0100:Ddx55 UTSW 5 124,694,845 (GRCm39) missense probably damaging 1.00
R0100:Ddx55 UTSW 5 124,694,845 (GRCm39) missense probably damaging 1.00
R0329:Ddx55 UTSW 5 124,697,210 (GRCm39) missense probably benign 0.00
R0401:Ddx55 UTSW 5 124,706,014 (GRCm39) missense probably damaging 1.00
R1604:Ddx55 UTSW 5 124,697,369 (GRCm39) missense probably damaging 1.00
R1760:Ddx55 UTSW 5 124,706,176 (GRCm39) missense probably damaging 0.99
R2002:Ddx55 UTSW 5 124,704,503 (GRCm39) missense probably damaging 1.00
R2292:Ddx55 UTSW 5 124,706,140 (GRCm39) missense probably benign 0.00
R4677:Ddx55 UTSW 5 124,705,997 (GRCm39) missense probably benign 0.04
R4735:Ddx55 UTSW 5 124,704,539 (GRCm39) missense probably damaging 1.00
R4745:Ddx55 UTSW 5 124,705,028 (GRCm39) nonsense probably null
R4941:Ddx55 UTSW 5 124,706,779 (GRCm39) nonsense probably null
R5272:Ddx55 UTSW 5 124,696,092 (GRCm39) missense possibly damaging 0.91
R5348:Ddx55 UTSW 5 124,692,628 (GRCm39) missense probably damaging 0.96
R5514:Ddx55 UTSW 5 124,694,875 (GRCm39) missense probably damaging 1.00
R5801:Ddx55 UTSW 5 124,704,560 (GRCm39) critical splice donor site probably null
R5806:Ddx55 UTSW 5 124,697,262 (GRCm39) missense probably damaging 1.00
R5869:Ddx55 UTSW 5 124,706,745 (GRCm39) missense probably benign
R5909:Ddx55 UTSW 5 124,704,913 (GRCm39) missense probably benign 0.00
R6594:Ddx55 UTSW 5 124,704,988 (GRCm39) missense probably damaging 1.00
R6737:Ddx55 UTSW 5 124,691,008 (GRCm39) missense probably damaging 1.00
R7262:Ddx55 UTSW 5 124,704,919 (GRCm39) missense probably benign
R8049:Ddx55 UTSW 5 124,694,821 (GRCm39) missense probably damaging 0.96
R8078:Ddx55 UTSW 5 124,704,451 (GRCm39) missense probably damaging 1.00
R8093:Ddx55 UTSW 5 124,694,883 (GRCm39) missense possibly damaging 0.48
R8465:Ddx55 UTSW 5 124,697,184 (GRCm39) splice site probably null
R8944:Ddx55 UTSW 5 124,706,788 (GRCm39) missense probably damaging 0.98
R9007:Ddx55 UTSW 5 124,697,370 (GRCm39) missense probably damaging 0.99
R9305:Ddx55 UTSW 5 124,705,012 (GRCm39) missense probably damaging 1.00
R9561:Ddx55 UTSW 5 124,706,707 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- AAACAGATAGGGCTCTGCTGG -3'
(R):5'- TGAGCTACAAGATACAGTGTGG -3'

Sequencing Primer
(F):5'- AGGCCTGGGACTTCAAGG -3'
(R):5'- GACTGAAGAGGCTGGGTTTGTC -3'
Posted On 2019-06-26