Incidental Mutation 'IGL01357:Dhx33'
ID 278306
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhx33
Ensembl Gene ENSMUSG00000040620
Gene Name DEAH-box helicase 33
Synonyms 3110057P17Rik, DEAH (Asp-Glu-Ala-His) box polypeptide 33, 9430096J02Rik, Ddx33
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01357
Quality Score
Status
Chromosome 11
Chromosomal Location 70874917-70895258 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 70884687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 40 (Q40*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108527] [ENSMUST00000124464] [ENSMUST00000155044]
AlphaFold Q80VY9
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 noncoding transcript
Transcript: ENSMUST00000178111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179635
Predicted Effect probably benign
Transcript: ENSMUST00000155044
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik C A 8: 125,366,072 (GRCm39) V224F probably damaging Het
Abca4 T A 3: 121,897,232 (GRCm39) M637K probably damaging Het
Abca8a A G 11: 109,922,398 (GRCm39) V1395A probably benign Het
Adam20 A C 8: 41,249,597 (GRCm39) D569A probably benign Het
Axl A G 7: 25,473,594 (GRCm39) L344P probably benign Het
B3gat1 T C 9: 26,668,283 (GRCm39) L291P probably damaging Het
Cdc25c A T 18: 34,867,910 (GRCm39) probably null Het
Crat A T 2: 30,297,736 (GRCm39) Y263N probably damaging Het
Crb2 A G 2: 37,685,523 (GRCm39) probably benign Het
Dnah7a A T 1: 53,701,540 (GRCm39) V205D probably benign Het
Emsy A T 7: 98,240,077 (GRCm39) Y1011* probably null Het
Fbln5 C T 12: 101,717,146 (GRCm39) S414N probably damaging Het
Fev T C 1: 74,921,683 (GRCm39) E89G possibly damaging Het
Fgg A G 3: 82,921,535 (GRCm39) E406G possibly damaging Het
Glra1 A T 11: 55,405,715 (GRCm39) M425K possibly damaging Het
Gm8214 C T 1: 183,414,129 (GRCm39) noncoding transcript Het
Kdm3b A G 18: 34,926,067 (GRCm39) E69G probably damaging Het
Kntc1 T A 5: 123,895,877 (GRCm39) V89E probably damaging Het
L3mbtl3 T A 10: 26,206,083 (GRCm39) N361I unknown Het
Macrod2 A G 2: 142,226,250 (GRCm39) N457S probably damaging Het
Mal C A 2: 127,482,234 (GRCm39) M56I probably damaging Het
Mfsd5 C T 15: 102,189,882 (GRCm39) T418M probably benign Het
Mmaa C A 8: 79,994,600 (GRCm39) R402L probably benign Het
Myo15a T C 11: 60,393,115 (GRCm39) probably benign Het
Nme1 A G 11: 93,850,317 (GRCm39) S122P possibly damaging Het
Nxt1 A G 2: 148,517,316 (GRCm39) E19G probably damaging Het
Nynrin A T 14: 56,107,874 (GRCm39) T994S probably benign Het
Orc2 T G 1: 58,536,551 (GRCm39) E56D probably benign Het
Orc2 T C 1: 58,536,552 (GRCm39) E56G probably benign Het
Pid1 G A 1: 84,016,026 (GRCm39) T113I probably damaging Het
Plcg2 G A 8: 118,340,900 (GRCm39) probably benign Het
Rad50 A G 11: 53,597,848 (GRCm39) V12A probably damaging Het
Serpinb9c C T 13: 33,335,862 (GRCm39) V197I probably benign Het
Sfxn2 A T 19: 46,574,212 (GRCm39) N134I probably damaging Het
Spen T C 4: 141,244,424 (GRCm39) R204G unknown Het
Strip2 A G 6: 29,939,166 (GRCm39) probably benign Het
Tas2r135 A T 6: 42,383,078 (GRCm39) I206L probably benign Het
Tmem243 A G 5: 9,151,348 (GRCm39) T11A probably damaging Het
Tmprss11c A G 5: 86,379,666 (GRCm39) V401A probably damaging Het
Trim50 T A 5: 135,392,808 (GRCm39) I241N probably damaging Het
Ttn A C 2: 76,781,864 (GRCm39) S1015A possibly damaging Het
Wee1 T C 7: 109,741,242 (GRCm39) S622P probably benign Het
Other mutations in Dhx33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Dhx33 APN 11 70,892,446 (GRCm39) missense probably benign
IGL01358:Dhx33 APN 11 70,884,687 (GRCm39) nonsense probably null
IGL01359:Dhx33 APN 11 70,884,687 (GRCm39) nonsense probably null
IGL01360:Dhx33 APN 11 70,884,687 (GRCm39) nonsense probably null
IGL01558:Dhx33 APN 11 70,890,579 (GRCm39) missense probably benign 0.01
IGL02232:Dhx33 APN 11 70,878,030 (GRCm39) missense probably damaging 1.00
IGL02543:Dhx33 APN 11 70,878,066 (GRCm39) missense probably damaging 1.00
R0013:Dhx33 UTSW 11 70,884,461 (GRCm39) missense probably damaging 0.99
R0013:Dhx33 UTSW 11 70,884,461 (GRCm39) missense probably damaging 0.99
R1544:Dhx33 UTSW 11 70,890,354 (GRCm39) missense probably damaging 1.00
R1782:Dhx33 UTSW 11 70,892,466 (GRCm39) missense probably damaging 1.00
R1909:Dhx33 UTSW 11 70,879,933 (GRCm39) missense probably benign 0.02
R2074:Dhx33 UTSW 11 70,890,669 (GRCm39) missense probably damaging 1.00
R3729:Dhx33 UTSW 11 70,879,978 (GRCm39) missense probably benign 0.00
R3731:Dhx33 UTSW 11 70,879,978 (GRCm39) missense probably benign 0.00
R5902:Dhx33 UTSW 11 70,879,957 (GRCm39) missense probably damaging 1.00
R7129:Dhx33 UTSW 11 70,884,689 (GRCm39) missense probably damaging 1.00
R7605:Dhx33 UTSW 11 70,890,299 (GRCm39) missense probably damaging 1.00
R9135:Dhx33 UTSW 11 70,877,992 (GRCm39) missense probably damaging 0.98
R9721:Dhx33 UTSW 11 70,892,424 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16