Incidental Mutation 'IGL03356:Ddx55'
ID419949
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx55
Ensembl Gene ENSMUSG00000029389
Gene NameDEAD (Asp-Glu-Ala-Asp) box polypeptide 55
Synonyms2810021H22Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03356
Quality Score
Status
Chromosome5
Chromosomal Location124552864-124569660 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 124554753 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 81 (N81S)
Ref Sequence ENSEMBL: ENSMUSP00000143462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060226] [ENSMUST00000071057] [ENSMUST00000111438] [ENSMUST00000131631] [ENSMUST00000135464]
Predicted Effect probably benign
Transcript: ENSMUST00000060226
SMART Domains Protein: ENSMUSP00000054834
Gene: ENSMUSG00000029390

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
EMP24_GP25L 20 196 3e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000071057
AA Change: N81S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000070279
Gene: ENSMUSG00000029389
AA Change: N81S

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 benign
Transcript: ENSMUST00000111438
AA Change: N81S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107065
Gene: ENSMUSG00000029389
AA Change: N81S

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 possibly damaging
Transcript: ENSMUST00000131631
AA Change: N81S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143462
Gene: ENSMUSG00000029389
AA Change: N81S

DomainStartEndE-ValueType
Pfam:DEAD 33 125 6.4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135464
SMART Domains Protein: ENSMUSP00000120809
Gene: ENSMUSG00000029390

DomainStartEndE-ValueType
EMP24_GP25L 1 107 3.11e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196021
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930467E23Rik A G 8: 19,749,447 I304V probably benign Het
A1bg A C 15: 60,919,888 M233R probably benign Het
Aadat T C 8: 60,531,691 M256T probably damaging Het
Adamts16 T C 13: 70,753,291 N889S probably benign Het
Camkk2 A T 5: 122,743,874 I235N probably damaging Het
Card6 C T 15: 5,100,241 A558T probably benign Het
Ccdc105 A G 10: 78,747,132 C473R possibly damaging Het
Ccdc175 T G 12: 72,139,893 probably null Het
Crot A G 5: 8,988,295 probably benign Het
Cyp2c67 A G 19: 39,639,961 S180P probably damaging Het
Dennd3 C T 15: 73,568,633 T1171M probably benign Het
Dnah7a T C 1: 53,503,934 D2359G probably benign Het
Dpp8 T A 9: 65,045,787 N248K probably benign Het
Ganc T C 2: 120,435,288 I439T probably benign Het
Gdpgp1 T C 7: 80,238,695 I158T possibly damaging Het
Grm3 T C 5: 9,512,206 D548G possibly damaging Het
H2-DMb1 T A 17: 34,157,540 probably benign Het
Hecw2 A G 1: 53,927,058 probably benign Het
Hs3st2 A G 7: 121,393,166 E113G probably damaging Het
Hspa4 C A 11: 53,269,800 R483L probably damaging Het
Ik C A 18: 36,756,604 S490R probably damaging Het
Ldlrad1 G A 4: 107,214,838 V86M possibly damaging Het
Mfsd4b1 A C 10: 40,002,831 F357V probably damaging Het
Ndufa9 A G 6: 126,844,850 V54A possibly damaging Het
Nfe2l2 A G 2: 75,679,200 I92T probably benign Het
Oas1a A G 5: 120,905,845 S75P probably damaging Het
Oca2 T G 7: 56,535,968 M814R probably benign Het
Phlpp2 A G 8: 109,935,617 T879A probably benign Het
Rpe65 A T 3: 159,615,577 Y342F possibly damaging Het
Satb2 T C 1: 56,891,174 K230R probably damaging Het
Slc4a4 A G 5: 89,122,483 T297A probably benign Het
Slpi T C 2: 164,356,209 T22A probably benign Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Synj1 A G 16: 90,987,392 F286S probably damaging Het
Tigd2 T A 6: 59,211,705 I519K probably benign Het
Tyr G T 7: 87,492,714 L136I possibly damaging Het
Vmn1r34 A T 6: 66,636,986 M256K probably benign Het
Zmym2 T A 14: 56,957,060 C1258* probably null Het
Other mutations in Ddx55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02237:Ddx55 APN 5 124567895 missense probably damaging 1.00
R0100:Ddx55 UTSW 5 124556782 missense probably damaging 1.00
R0100:Ddx55 UTSW 5 124556782 missense probably damaging 1.00
R0329:Ddx55 UTSW 5 124559147 missense probably benign 0.00
R0401:Ddx55 UTSW 5 124567951 missense probably damaging 1.00
R1604:Ddx55 UTSW 5 124559306 missense probably damaging 1.00
R1760:Ddx55 UTSW 5 124568113 missense probably damaging 0.99
R2002:Ddx55 UTSW 5 124566440 missense probably damaging 1.00
R2292:Ddx55 UTSW 5 124568077 missense probably benign 0.00
R4677:Ddx55 UTSW 5 124567934 missense probably benign 0.04
R4735:Ddx55 UTSW 5 124566476 missense probably damaging 1.00
R4745:Ddx55 UTSW 5 124566965 nonsense probably null
R4941:Ddx55 UTSW 5 124568716 nonsense probably null
R5272:Ddx55 UTSW 5 124558029 missense possibly damaging 0.91
R5348:Ddx55 UTSW 5 124554565 missense probably damaging 0.96
R5514:Ddx55 UTSW 5 124556812 missense probably damaging 1.00
R5801:Ddx55 UTSW 5 124566497 critical splice donor site probably null
R5806:Ddx55 UTSW 5 124559199 missense probably damaging 1.00
R5869:Ddx55 UTSW 5 124568682 missense probably benign
R5909:Ddx55 UTSW 5 124566850 missense probably benign 0.00
R6594:Ddx55 UTSW 5 124566925 missense probably damaging 1.00
R6737:Ddx55 UTSW 5 124552945 missense probably damaging 1.00
R7257:Ddx55 UTSW 5 124560721 missense possibly damaging 0.67
R7262:Ddx55 UTSW 5 124566856 missense probably benign
R8049:Ddx55 UTSW 5 124556758 missense probably damaging 0.96
Posted On2016-08-02