Incidental Mutation 'IGL01359:Dhx33'
ID278308
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? Probably essential (E-score: 0.952) question?
Stock #IGL01359
Quality Score
Status
Chromosome11
Chromosomal Location70984091-71004437 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 70993861 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 40 (Q40*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108527] [ENSMUST00000124464] [ENSMUST00000155044]
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 null
Transcript: ENSMUST00000108527
AA Change: Q426*
SMART Domains Protein: ENSMUSP00000104167
Gene: ENSMUSG00000040620
AA Change: Q426*

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 null
Transcript: ENSMUST00000124464
AA Change: Q202*
SMART Domains Protein: ENSMUSP00000136051
Gene: ENSMUSG00000040620
AA Change: Q202*

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 probably null
Transcript: ENSMUST00000146203
AA Change: Q40*
Predicted Effect probably benign
Transcript: ENSMUST00000155044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179635
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 G A 17: 43,310,686 E605K probably damaging Het
Adgrl4 G A 3: 151,543,286 C737Y probably damaging Het
Ankk1 A T 9: 49,416,028 I617N possibly damaging Het
B3gat2 T C 1: 23,763,220 F196L probably damaging Het
Bcl2l14 T A 6: 134,423,865 I83N probably damaging Het
Bcr T C 10: 75,159,779 probably benign Het
Ckmt2 A T 13: 91,861,820 I127N probably damaging Het
Dnah11 T C 12: 117,982,999 T3117A probably damaging Het
Dnaic2 A G 11: 114,751,788 Y405C probably benign Het
Emc2 A G 15: 43,511,749 Y214C probably damaging Het
Fbxw2 T C 2: 34,822,750 T100A probably benign Het
Fkrp C T 7: 16,811,490 R149Q probably benign Het
Fsd1l A G 4: 53,659,601 R153G possibly damaging Het
Galnt4 T C 10: 99,109,597 Y395H probably damaging Het
Gk5 T C 9: 96,137,789 L126P probably damaging Het
Gm973 A G 1: 59,630,279 S830G probably benign Het
Gpc5 G A 14: 115,369,750 G255S possibly damaging Het
Grk3 C A 5: 112,937,760 S370I probably damaging Het
Herc1 A G 9: 66,439,268 D1972G probably benign Het
Itih3 T A 14: 30,917,772 D364V probably damaging Het
Lce1f G T 3: 92,719,184 C55* probably null Het
Ltn1 A C 16: 87,405,693 probably benign Het
Lyl1 C T 8: 84,702,686 A8V possibly damaging Het
Mdn1 A G 4: 32,743,686 E3974G probably benign Het
Msl3l2 T C 10: 56,116,244 V355A probably damaging Het
Nadsyn1 T C 7: 143,821,230 I30V possibly damaging Het
Nuggc T C 14: 65,623,207 V418A probably damaging Het
Olfr1308 A T 2: 111,961,061 M4K probably benign Het
Olfr553 A T 7: 102,614,172 H272Q probably benign Het
Olfr671 T C 7: 104,975,986 probably null Het
Ppp4r3a T C 12: 101,058,496 E248G probably damaging Het
Rab3gap2 T A 1: 185,238,870 V234E probably damaging Het
Radil G A 5: 142,543,713 T105I probably damaging Het
Saa4 A G 7: 46,731,636 W21R possibly damaging Het
Sec62 G A 3: 30,814,306 S228N unknown Het
Setd4 C T 16: 93,591,239 G120S probably damaging Het
Sgpl1 G A 10: 61,100,908 T556I probably benign Het
Slc14a2 T C 18: 78,154,108 D811G probably benign Het
Slc26a11 A T 11: 119,363,431 M192L probably benign Het
Spon1 A T 7: 114,034,290 Q656L probably damaging Het
Tex15 A G 8: 33,581,898 D2491G probably damaging Het
Tox T C 4: 6,697,583 T407A probably damaging Het
Ubr5 A T 15: 37,973,006 I2611N probably damaging Het
Usp25 G A 16: 77,059,253 A245T probably damaging Het
Vwa8 C A 14: 79,064,913 Y1007* probably null Het
Zfp423 T C 8: 87,780,662 H893R probably damaging Het
Zfp507 A G 7: 35,794,502 I372T probably damaging Het
Other mutations in Dhx33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Dhx33 APN 11 71001620 missense probably benign
IGL01357:Dhx33 APN 11 70993861 nonsense probably null
IGL01358: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
Posted On2015-04-16