Incidental Mutation 'IGL00422:Dhx33'
ID4554
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhx33
Ensembl Gene ENSMUSG00000040620
Gene NameDEAH (Asp-Glu-Ala-His) box polypeptide 33
Synonyms9430096J02Rik, 3110057P17Rik, Ddx33
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00422
Quality Score
Status
Chromosome11
Chromosomal Location70984091-71004437 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 71001620 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 108 (S108G)
Ref Sequence ENSEMBL: ENSMUSP00000104167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108527] [ENSMUST00000124464]
Predicted Effect probably benign
Transcript: ENSMUST00000049048
SMART Domains Protein: ENSMUSP00000038018
Gene: ENSMUSG00000040620

DomainStartEndE-ValueType
low complexity region 18 27 N/A INTRINSIC
Blast:DEXDc 41 76 3e-16 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083312
Predicted Effect probably benign
Transcript: ENSMUST00000108527
AA Change: S108G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104167
Gene: ENSMUSG00000040620
AA Change: S108G

DomainStartEndE-ValueType
low complexity region 30 39 N/A INTRINSIC
DEXDc 53 252 1.96e-29 SMART
HELICc 300 401 3.45e-16 SMART
HA2 461 554 3.29e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123860
Predicted Effect probably benign
Transcript: ENSMUST00000124464
SMART Domains Protein: ENSMUSP00000136051
Gene: ENSMUSG00000040620

DomainStartEndE-ValueType
low complexity region 30 39 N/A INTRINSIC
low complexity region 134 145 N/A INTRINSIC
HA2 237 330 3.29e-29 SMART
Pfam:OB_NTP_bind 364 464 7.7e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178218
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 the DEAD box protein family. The DEAD box proteins are 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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C T 19: 57,068,186 A359T probably damaging Het
Ajuba A T 14: 54,571,769 Y400* probably null Het
Cckar T A 5: 53,699,829 D342V possibly damaging Het
Cdc123 A G 2: 5,798,449 V253A probably benign Het
Cep162 T C 9: 87,227,167 D461G probably benign Het
Chd7 G A 4: 8,859,106 E2399K probably damaging Het
Cln8 G A 8: 14,896,637 C217Y probably benign Het
Dchs1 A G 7: 105,758,029 V2119A possibly damaging Het
Dip2a T A 10: 76,313,236 M194L probably benign Het
Dnah11 T C 12: 118,068,096 K1779R probably damaging Het
Fads3 T G 19: 10,055,681 F328V possibly damaging Het
Flad1 A G 3: 89,405,853 probably null Het
Gm5346 A G 8: 43,626,351 F279L probably damaging Het
Gm7535 G T 17: 17,911,888 probably benign Het
Gnpat A G 8: 124,885,013 E513G probably damaging Het
H2-M5 A G 17: 36,987,840 I238T probably damaging Het
Hoxd12 G A 2: 74,675,427 R114Q probably damaging Het
Ide T C 19: 37,276,532 I903V unknown Het
Ifi209 T G 1: 173,638,963 D120E possibly damaging Het
Map3k10 T C 7: 27,668,469 D248G probably damaging Het
Mat2b C A 11: 40,687,738 G41C probably damaging Het
Mfsd4a T C 1: 132,040,594 I369V probably benign Het
Myom1 T A 17: 71,126,098 V1480E probably damaging Het
Myom2 A T 8: 15,069,490 D127V probably damaging Het
Olfml2b T A 1: 170,669,066 V422E probably damaging Het
Pkn3 G A 2: 30,081,104 A228T probably damaging Het
Rad17 A T 13: 100,629,523 S366T probably damaging Het
Rad17 A T 13: 100,629,525 I365K probably benign Het
Rpp14 G A 14: 8,083,934 G30E possibly damaging Het
Slco1a6 A C 6: 142,161,017 C15G probably benign Het
Spag9 T A 11: 94,097,866 F571I probably benign Het
Ttc27 T A 17: 74,780,816 C459S probably damaging Het
Washc2 A G 6: 116,256,676 T888A probably benign Het
Zcchc7 A T 4: 44,931,318 H490L possibly damaging Het
Other mutations in Dhx33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01357:Dhx33 APN 11 70993861 nonsense probably null
IGL01358:Dhx33 APN 11 70993861 nonsense probably null
IGL01359:Dhx33 APN 11 70993861 nonsense probably null
IGL01360:Dhx33 APN 11 70993861 nonsense probably null
IGL01558:Dhx33 APN 11 70999753 missense probably benign 0.01
IGL02232:Dhx33 APN 11 70987204 missense probably damaging 1.00
IGL02543:Dhx33 APN 11 70987240 missense probably damaging 1.00
R0013:Dhx33 UTSW 11 70993635 missense probably damaging 0.99
R0013:Dhx33 UTSW 11 70993635 missense probably damaging 0.99
R1544:Dhx33 UTSW 11 70999528 missense probably damaging 1.00
R1782:Dhx33 UTSW 11 71001640 missense probably damaging 1.00
R1909:Dhx33 UTSW 11 70989107 missense probably benign 0.02
R2074:Dhx33 UTSW 11 70999843 missense probably damaging 1.00
R3729:Dhx33 UTSW 11 70989152 missense probably benign 0.00
R3731:Dhx33 UTSW 11 70989152 missense probably benign 0.00
R5902:Dhx33 UTSW 11 70989131 missense probably damaging 1.00
R7129:Dhx33 UTSW 11 70993863 missense probably damaging 1.00
R7605:Dhx33 UTSW 11 70999473 missense probably damaging 1.00
Posted On2012-04-20