Incidental Mutation 'IGL01444:Dhx32'
ID 84351
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhx32
Ensembl Gene ENSMUSG00000030986
Gene Name DEAH-box helicase 32 (putative)
Synonyms Ddx32, DEAH (Asp-Glu-Ala-His) box polypeptide 32
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # IGL01444
Quality Score
Status
Chromosome 7
Chromosomal Location 133322671-133384455 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133350706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 121 (I121M)
Ref Sequence ENSEMBL: ENSMUSP00000066067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033290] [ENSMUST00000063669] [ENSMUST00000106139] [ENSMUST00000130182] [ENSMUST00000149876]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000033290
AA Change: I121M

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000033290
Gene: ENSMUSG00000030986
AA Change: I121M

DomainStartEndE-ValueType
Blast:DEXDc 67 253 1e-107 BLAST
SCOP:d1jpna2 77 289 9e-21 SMART
HA2 465 556 3.35e-21 SMART
Pfam:OB_NTP_bind 597 704 1.7e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000063669
AA Change: I121M

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000066067
Gene: ENSMUSG00000030986
AA Change: I121M

DomainStartEndE-ValueType
Blast:DEXDc 67 253 1e-107 BLAST
SCOP:d1jpna2 77 289 9e-21 SMART
HA2 465 556 3.35e-21 SMART
Pfam:OB_NTP_bind 594 704 4.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106139
SMART Domains Protein: ENSMUSP00000101745
Gene: ENSMUSG00000030986

DomainStartEndE-ValueType
Blast:DEXDc 1 113 5e-54 BLAST
SCOP:d1jpna2 1 149 6e-11 SMART
HA2 325 416 3.35e-21 SMART
Pfam:OB_NTP_bind 457 564 1.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130182
SMART Domains Protein: ENSMUSP00000115677
Gene: ENSMUSG00000030986

DomainStartEndE-ValueType
PDB:3KX2|A 42 106 8e-11 PDB
Blast:DEXDc 67 110 2e-22 BLAST
SCOP:d1jpna2 77 109 1e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146211
Predicted Effect probably benign
Transcript: ENSMUST00000149876
AA Change: I106M

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000121789
Gene: ENSMUSG00000030986
AA Change: I106M

DomainStartEndE-ValueType
PDB:3KX2|A 42 142 7e-19 PDB
Blast:DEXDc 67 143 6e-42 BLAST
SCOP:d1a1va1 82 143 3e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211382
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, 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. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,146,183 (GRCm39) N517I probably damaging Het
Adam25 G A 8: 41,207,958 (GRCm39) R408H probably benign Het
Adam34l A T 8: 44,079,470 (GRCm39) D251E probably benign Het
Ang C A 14: 51,339,124 (GRCm39) Y88* probably null Het
Ankrd42 T C 7: 92,259,793 (GRCm39) T327A probably damaging Het
Birc6 A G 17: 74,938,682 (GRCm39) D2696G probably damaging Het
Chd3 G A 11: 69,239,568 (GRCm39) T1717M probably benign Het
Csmd1 T A 8: 16,250,069 (GRCm39) M970L probably benign Het
Dnah11 G A 12: 117,983,967 (GRCm39) S2506F possibly damaging Het
Dscam T A 16: 96,474,909 (GRCm39) I1218F possibly damaging Het
Duox1 T C 2: 122,170,571 (GRCm39) L1197P probably damaging Het
Eps8l2 T C 7: 140,941,288 (GRCm39) probably benign Het
Exoc3 T C 13: 74,355,054 (GRCm39) K49R probably damaging Het
Exoc8 T A 8: 125,622,580 (GRCm39) T596S possibly damaging Het
F13a1 C T 13: 37,102,551 (GRCm39) G391R probably null Het
Fat3 A T 9: 15,910,144 (GRCm39) S1953T probably damaging Het
Gls2 C A 10: 128,037,216 (GRCm39) N252K probably damaging Het
Haus2 G A 2: 120,446,423 (GRCm39) R115K probably benign Het
Ift122 A G 6: 115,861,340 (GRCm39) K262E probably benign Het
Islr2 C T 9: 58,105,661 (GRCm39) C533Y probably damaging Het
Lrp2 A T 2: 69,274,060 (GRCm39) F3997I possibly damaging Het
Nt5c1a C T 4: 123,109,962 (GRCm39) R354W probably damaging Het
Or6c206 T A 10: 129,097,204 (GRCm39) C125S probably damaging Het
Pcolce A T 5: 137,605,738 (GRCm39) S200R probably damaging Het
Plec A G 15: 76,063,497 (GRCm39) V2213A possibly damaging Het
Prmt3 T A 7: 49,430,120 (GRCm39) D74E probably benign Het
Ptk7 A G 17: 46,876,313 (GRCm39) F1046S probably damaging Het
Ranbp2 T C 10: 58,311,122 (GRCm39) Y887H possibly damaging Het
Sanbr T G 11: 23,570,225 (GRCm39) probably benign Het
Sez6l2 G A 7: 126,561,055 (GRCm39) E447K possibly damaging Het
Shld2 C A 14: 33,959,514 (GRCm39) V823F probably damaging Het
Snrnp70 C T 7: 45,036,660 (GRCm39) probably null Het
Timm10 T A 2: 84,660,208 (GRCm39) V49E probably damaging Het
Tox2 T C 2: 163,067,386 (GRCm39) probably benign Het
Usp20 T A 2: 30,888,801 (GRCm39) M1K probably null Het
Usp32 A C 11: 84,949,990 (GRCm39) L223V probably damaging Het
Zeb1 G T 18: 5,767,906 (GRCm39) A806S probably damaging Het
Zeb1 T C 18: 5,767,138 (GRCm39) S550P probably benign Het
Other mutations in Dhx32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03398:Dhx32 APN 7 133,361,254 (GRCm39) missense probably damaging 1.00
R0729:Dhx32 UTSW 7 133,339,150 (GRCm39) missense probably benign 0.01
R1054:Dhx32 UTSW 7 133,327,001 (GRCm39) missense probably damaging 1.00
R1438:Dhx32 UTSW 7 133,339,069 (GRCm39) missense possibly damaging 0.87
R1532:Dhx32 UTSW 7 133,350,753 (GRCm39) missense possibly damaging 0.93
R1864:Dhx32 UTSW 7 133,339,025 (GRCm39) missense probably benign 0.00
R1865:Dhx32 UTSW 7 133,339,025 (GRCm39) missense probably benign 0.00
R2074:Dhx32 UTSW 7 133,323,021 (GRCm39) missense probably benign 0.04
R2075:Dhx32 UTSW 7 133,323,021 (GRCm39) missense probably benign 0.04
R2119:Dhx32 UTSW 7 133,323,976 (GRCm39) nonsense probably null
R2377:Dhx32 UTSW 7 133,326,207 (GRCm39) missense probably damaging 1.00
R3125:Dhx32 UTSW 7 133,327,085 (GRCm39) missense probably damaging 1.00
R4519:Dhx32 UTSW 7 133,335,838 (GRCm39) missense probably damaging 1.00
R4970:Dhx32 UTSW 7 133,340,384 (GRCm39) intron probably benign
R5538:Dhx32 UTSW 7 133,324,946 (GRCm39) missense probably benign
R5616:Dhx32 UTSW 7 133,322,957 (GRCm39) makesense probably null
R5951:Dhx32 UTSW 7 133,339,057 (GRCm39) missense probably damaging 0.98
R6081:Dhx32 UTSW 7 133,323,941 (GRCm39) missense probably damaging 1.00
R6297:Dhx32 UTSW 7 133,344,529 (GRCm39) missense probably damaging 1.00
R6319:Dhx32 UTSW 7 133,338,955 (GRCm39) missense probably damaging 1.00
R7088:Dhx32 UTSW 7 133,344,417 (GRCm39) missense probably damaging 1.00
R7257:Dhx32 UTSW 7 133,361,206 (GRCm39) missense probably benign 0.08
R7686:Dhx32 UTSW 7 133,361,430 (GRCm39) start codon destroyed probably null
R7952:Dhx32 UTSW 7 133,350,725 (GRCm39) missense probably benign 0.30
R8025:Dhx32 UTSW 7 133,323,100 (GRCm39) missense probably damaging 1.00
R8255:Dhx32 UTSW 7 133,339,120 (GRCm39) missense probably benign 0.01
R8389:Dhx32 UTSW 7 133,326,935 (GRCm39) missense possibly damaging 0.95
R8945:Dhx32 UTSW 7 133,323,876 (GRCm39) critical splice donor site probably null
R8949:Dhx32 UTSW 7 133,344,470 (GRCm39) nonsense probably null
R9485:Dhx32 UTSW 7 133,327,110 (GRCm39) missense possibly damaging 0.61
R9720:Dhx32 UTSW 7 133,324,857 (GRCm39) nonsense probably null
R9790:Dhx32 UTSW 7 133,326,267 (GRCm39) missense probably benign 0.35
R9791:Dhx32 UTSW 7 133,326,267 (GRCm39) missense probably benign 0.35
Posted On 2013-11-11