Incidental Mutation 'IGL02543:Dhx33'
ID 298292
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhx33
Ensembl Gene ENSMUSG00000040620
Gene Name DEAH (Asp-Glu-Ala-His) box polypeptide 33
Synonyms 9430096J02Rik, 3110057P17Rik, Ddx33
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02543
Quality Score
Chromosome 11
Chromosomal Location 70984091-71004437 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70987240 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 435 (Y435C)
Ref Sequence ENSEMBL: ENSMUSP00000136051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078528] [ENSMUST00000108527] [ENSMUST00000124464] [ENSMUST00000155044]
AlphaFold Q80VY9
Predicted Effect probably benign
Transcript: ENSMUST00000049048
SMART Domains Protein: ENSMUSP00000038018
Gene: ENSMUSG00000040620

low complexity region 18 27 N/A INTRINSIC
Blast:DEXDc 41 76 3e-16 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000078528
SMART Domains Protein: ENSMUSP00000077612
Gene: ENSMUSG00000018446

Pfam:MAM33 84 276 1.2e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108527
AA Change: Y659C

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104167
Gene: ENSMUSG00000040620
AA Change: Y659C

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 probably damaging
Transcript: ENSMUST00000124464
AA Change: Y435C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136051
Gene: ENSMUSG00000040620
AA Change: Y435C

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 benign
Transcript: ENSMUST00000146203
Predicted Effect probably benign
Transcript: ENSMUST00000155044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179291
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G T 19: 31,918,095 (GRCm38) A193S probably damaging Het
Adcy4 T C 14: 55,769,170 (GRCm38) T1069A probably benign Het
Arg2 A T 12: 79,150,759 (GRCm38) I184F probably benign Het
Asb18 G A 1: 90,014,391 (GRCm38) P63S probably damaging Het
Cd163l1 A G 7: 140,220,578 (GRCm38) M91V probably benign Het
Cep85 T C 4: 134,156,323 (GRCm38) H85R possibly damaging Het
Chfr A G 5: 110,143,547 (GRCm38) probably null Het
Cog2 A G 8: 124,529,959 (GRCm38) N148S probably benign Het
Csgalnact1 T C 8: 68,461,068 (GRCm38) T162A probably damaging Het
Ddi1 C T 9: 6,266,183 (GRCm38) G62D possibly damaging Het
Dsc3 A T 18: 19,965,828 (GRCm38) C765S probably benign Het
Egfem1 T A 3: 29,668,380 (GRCm38) D362E probably benign Het
Gm10093 A G 17: 78,491,874 (GRCm38) E98G probably damaging Het
Gm28040 A T 1: 133,319,331 (GRCm38) I26F possibly damaging Het
Gm28778 T C 1: 53,299,043 (GRCm38) M22T probably benign Het
Hipk2 A G 6: 38,703,501 (GRCm38) I968T possibly damaging Het
Hlx T G 1: 184,730,751 (GRCm38) S235R probably damaging Het
Jag1 T C 2: 137,091,947 (GRCm38) probably benign Het
Kdr A G 5: 75,964,947 (GRCm38) probably benign Het
Klhl3 T C 13: 58,018,871 (GRCm38) E435G probably damaging Het
L3mbtl4 T C 17: 68,461,612 (GRCm38) probably benign Het
Large1 T A 8: 73,048,414 (GRCm38) M223L probably benign Het
Lrp1b T C 2: 40,870,401 (GRCm38) K2838E possibly damaging Het
Ncan T C 8: 70,108,571 (GRCm38) D582G probably benign Het
Nedd9 T C 13: 41,316,735 (GRCm38) D314G probably damaging Het
Nip7 T C 8: 107,058,193 (GRCm38) probably benign Het
Olfr1408 T G 1: 173,130,334 (GRCm38) K294N probably damaging Het
Olfr629 A T 7: 103,740,503 (GRCm38) C246S possibly damaging Het
Olfr8 C A 10: 78,955,939 (GRCm38) H245N probably damaging Het
P3h1 T C 4: 119,237,856 (GRCm38) probably benign Het
Pcp4l1 C T 1: 171,175,564 (GRCm38) probably benign Het
Plekhm2 C T 4: 141,642,019 (GRCm38) G118D probably benign Het
Prkg1 T C 19: 30,624,734 (GRCm38) D374G possibly damaging Het
Ptcd1 A G 5: 145,154,687 (GRCm38) L534P possibly damaging Het
Rnf123 A G 9: 108,066,348 (GRCm38) S563P probably damaging Het
Sdk2 A T 11: 113,868,921 (GRCm38) I418N possibly damaging Het
Slc26a4 A G 12: 31,528,689 (GRCm38) I655T possibly damaging Het
Syne1 T C 10: 5,043,618 (GRCm38) K524R probably damaging Het
Tanc1 G T 2: 59,833,258 (GRCm38) G1120C probably damaging Het
Tbc1d22a C T 15: 86,239,171 (GRCm38) A135V probably benign Het
Tenm3 A C 8: 48,298,956 (GRCm38) W942G probably damaging Het
Thsd7b G A 1: 130,165,103 (GRCm38) V1247I probably benign Het
Treml1 A G 17: 48,360,431 (GRCm38) T115A possibly damaging Het
Ttn T C 2: 76,709,962 (GRCm38) T34227A probably benign Het
Ugt2b38 T A 5: 87,423,483 (GRCm38) D230V probably benign Het
Vmn1r203 G A 13: 22,524,904 (GRCm38) G285D probably damaging Het
Vmn2r76 A G 7: 86,230,148 (GRCm38) S315P probably benign Het
Vmn2r98 T G 17: 19,065,821 (GRCm38) S194A probably benign Het
Wdr1 G A 5: 38,545,822 (GRCm38) S137F probably damaging Het
Wnt7b C T 15: 85,558,896 (GRCm38) probably benign Het
Zfp668 A T 7: 127,868,322 (GRCm38) C27* probably null Het
Other mutations in Dhx33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Dhx33 APN 11 71,001,620 (GRCm38) missense probably benign
IGL01357:Dhx33 APN 11 70,993,861 (GRCm38) nonsense probably null
IGL01358:Dhx33 APN 11 70,993,861 (GRCm38) nonsense probably null
IGL01359:Dhx33 APN 11 70,993,861 (GRCm38) nonsense probably null
IGL01360:Dhx33 APN 11 70,993,861 (GRCm38) nonsense probably null
IGL01558:Dhx33 APN 11 70,999,753 (GRCm38) missense probably benign 0.01
IGL02232:Dhx33 APN 11 70,987,204 (GRCm38) missense probably damaging 1.00
R0013:Dhx33 UTSW 11 70,993,635 (GRCm38) missense probably damaging 0.99
R0013:Dhx33 UTSW 11 70,993,635 (GRCm38) missense probably damaging 0.99
R1544:Dhx33 UTSW 11 70,999,528 (GRCm38) missense probably damaging 1.00
R1782:Dhx33 UTSW 11 71,001,640 (GRCm38) missense probably damaging 1.00
R1909:Dhx33 UTSW 11 70,989,107 (GRCm38) missense probably benign 0.02
R2074:Dhx33 UTSW 11 70,999,843 (GRCm38) missense probably damaging 1.00
R3729:Dhx33 UTSW 11 70,989,152 (GRCm38) missense probably benign 0.00
R3731:Dhx33 UTSW 11 70,989,152 (GRCm38) missense probably benign 0.00
R5902:Dhx33 UTSW 11 70,989,131 (GRCm38) missense probably damaging 1.00
R7129:Dhx33 UTSW 11 70,993,863 (GRCm38) missense probably damaging 1.00
R7605:Dhx33 UTSW 11 70,999,473 (GRCm38) missense probably damaging 1.00
R9135:Dhx33 UTSW 11 70,987,166 (GRCm38) missense probably damaging 0.98
R9721:Dhx33 UTSW 11 71,001,598 (GRCm38) missense probably damaging 0.97
Posted On 2015-04-16