Incidental Mutation 'R9305:Ddx55'
ID 705159
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9305 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 124690927-124707723 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 124705012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 427 (S427F)
Ref Sequence ENSEMBL: ENSMUSP00000070279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031334] [ENSMUST00000071057] [ENSMUST00000111438] [ENSMUST00000131631]
AlphaFold Q6ZPL9
Predicted Effect probably benign
Transcript: ENSMUST00000031334
SMART Domains Protein: ENSMUSP00000031334
Gene: ENSMUSG00000029388

DomainStartEndE-ValueType
Pfam:IF-2B 14 293 2.3e-81 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000071057
AA Change: S427F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070279
Gene: ENSMUSG00000029389
AA Change: S427F

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 probably damaging
Transcript: ENSMUST00000111438
AA Change: S423F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107065
Gene: ENSMUSG00000029389
AA Change: S423F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,126,989 (GRCm39) I1227V probably benign Het
Abhd8 A G 8: 71,911,148 (GRCm39) V261A possibly damaging Het
Adam34 A T 8: 44,104,416 (GRCm39) C410S probably damaging Het
Adamts17 T C 7: 66,489,645 (GRCm39) L21P probably damaging Het
Adgre1 A G 17: 57,748,275 (GRCm39) N492D probably benign Het
Aldh1b1 G A 4: 45,803,811 (GRCm39) V450M probably damaging Het
Apob A G 12: 8,058,053 (GRCm39) I2178M probably benign Het
Atp9a A T 2: 168,517,163 (GRCm39) I390N probably benign Het
Bltp1 A G 3: 37,098,969 (GRCm39) I1277V Het
Cacng2 T G 15: 77,897,542 (GRCm39) Y89S possibly damaging Het
Capn10 T C 1: 92,871,665 (GRCm39) probably null Het
Casq2 A G 3: 102,052,700 (GRCm39) D404G unknown Het
Cdh9 T A 15: 16,832,138 (GRCm39) Y342N probably damaging Het
Cenpf T C 1: 189,392,271 (GRCm39) probably null Het
Cep295nl G A 11: 118,224,766 (GRCm39) P26L possibly damaging Het
Chmp4c T G 3: 10,454,974 (GRCm39) S214A probably benign Het
Clstn2 T A 9: 97,343,537 (GRCm39) I637F probably damaging Het
Csmd1 G T 8: 16,011,532 (GRCm39) T2507K probably benign Het
Dpysl5 T C 5: 30,948,959 (GRCm39) W405R probably damaging Het
Esyt1 A G 10: 128,355,388 (GRCm39) V451A possibly damaging Het
Fads2b A T 2: 85,330,649 (GRCm39) C219* probably null Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Foxa3 A G 7: 18,748,961 (GRCm39) L55P possibly damaging Het
Gng2 G T 14: 19,925,961 (GRCm39) H44N probably damaging Het
Hps5 G A 7: 46,438,619 (GRCm39) T38I possibly damaging Het
Igf2 G A 7: 142,208,153 (GRCm39) R64C probably damaging Het
Klb T A 5: 65,505,988 (GRCm39) Y78* probably null Het
Krt32 T C 11: 99,972,029 (GRCm39) T440A probably benign Het
Kynu T A 2: 43,569,768 (GRCm39) F350Y probably damaging Het
Lrp1b A T 2: 41,618,574 (GRCm39) S281T Het
Lrrc43 C T 5: 123,646,219 (GRCm39) A657V unknown Het
Mief2 C A 11: 60,622,042 (GRCm39) P204Q possibly damaging Het
Morc3 G T 16: 93,667,302 (GRCm39) R560L probably benign Het
Or2y3 A T 17: 38,393,629 (GRCm39) V80D probably damaging Het
Or8c20 A C 9: 38,260,381 (GRCm39) M1L probably benign Het
Orc3 G A 4: 34,607,181 (GRCm39) R50* probably null Het
Osbpl6 T A 2: 76,378,716 (GRCm39) D124E probably damaging Het
Parp4 TG T 14: 56,832,790 (GRCm39) probably null Het
Parp4 T C 14: 56,852,224 (GRCm39) probably null Het
Pcdhb18 A C 18: 37,625,004 (GRCm39) H778P probably benign Het
Polg A T 7: 79,105,860 (GRCm39) Y710N probably benign Het
Ppp2r2b C A 18: 42,779,025 (GRCm39) R370L possibly damaging Het
Prune2 A G 19: 17,097,625 (GRCm39) D1043G probably benign Het
Rpl6 T C 5: 121,346,516 (GRCm39) S206P possibly damaging Het
Serpina3i T C 12: 104,234,881 (GRCm39) V404A probably damaging Het
Serpinb8 T C 1: 107,526,769 (GRCm39) probably null Het
Stx11 A T 10: 12,817,564 (GRCm39) D53E probably benign Het
Thoc3 C T 13: 54,607,998 (GRCm39) W315* probably null Het
Tmem26 G A 10: 68,559,816 (GRCm39) W29* probably null Het
Togaram2 A G 17: 71,996,408 (GRCm39) E137G probably damaging Het
Ttc39b A G 4: 83,151,023 (GRCm39) L524S probably damaging Het
Usp43 T C 11: 67,767,345 (GRCm39) N675S probably damaging Het
Vmn2r104 A G 17: 20,268,439 (GRCm39) L10P possibly damaging Het
Zbtb1 G A 12: 76,432,773 (GRCm39) R253Q probably damaging Het
Zfc3h1 A G 10: 115,255,771 (GRCm39) D1474G probably benign Het
Zfp873 T C 10: 81,896,514 (GRCm39) F415S probably benign 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
R7257:Ddx55 UTSW 5 124,698,784 (GRCm39) missense possibly damaging 0.67
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
R9561:Ddx55 UTSW 5 124,706,707 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- AGCACTGCATTGTGTGTCCTTG -3'
(R):5'- TGGCACAGAGCTTCATCAC -3'

Sequencing Primer
(F):5'- TCCTTGGTTTATTATATCTCGGGG -3'
(R):5'- GCTTTTATACCAGTACTCGATAGGC -3'
Posted On 2022-03-25