Incidental Mutation 'R6319:Dhx32'
ID 509339
Institutional Source Beutler Lab
Gene Symbol Dhx32
Ensembl Gene ENSMUSG00000030986
Gene Name DEAH-box helicase 32 (putative)
Synonyms Ddx32, DEAH (Asp-Glu-Ala-His) box polypeptide 32
MMRRC Submission 044474-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R6319 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 133322671-133384455 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 133338955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 360 (V360G)
Ref Sequence ENSEMBL: ENSMUSP00000066067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033290] [ENSMUST00000063669] [ENSMUST00000106139]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000033290
AA Change: V360G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033290
Gene: ENSMUSG00000030986
AA Change: V360G

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 probably damaging
Transcript: ENSMUST00000063669
AA Change: V360G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066067
Gene: ENSMUSG00000030986
AA Change: V360G

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 possibly damaging
Transcript: ENSMUST00000106139
AA Change: V220G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101745
Gene: ENSMUSG00000030986
AA Change: V220G

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 noncoding transcript
Transcript: ENSMUST00000120338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140593
Meta Mutation Damage Score 0.8775 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.6%
  • 20x: 98.8%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T C 6: 58,651,723 (GRCm39) S372P probably benign Het
Adam34 A G 8: 44,104,952 (GRCm39) I231T probably benign Het
Adgrg6 T A 10: 14,307,366 (GRCm39) H840L probably damaging Het
Akap11 T C 14: 78,750,978 (GRCm39) T470A probably benign Het
Atp1a2 C G 1: 172,116,903 (GRCm39) R238P probably damaging Het
B430306N03Rik A T 17: 48,623,771 (GRCm39) Q24L probably damaging Het
Bmp6 A T 13: 38,530,390 (GRCm39) H161L probably benign Het
Cdca8 C A 4: 124,815,087 (GRCm39) D177Y possibly damaging Het
Col14a1 A G 15: 55,379,565 (GRCm39) T1693A probably damaging Het
Cpsf1 A G 15: 76,481,167 (GRCm39) S1230P probably damaging Het
Dcaf13 A G 15: 39,007,067 (GRCm39) T334A probably benign Het
Dmxl1 A G 18: 49,985,367 (GRCm39) T205A probably benign Het
Dxo A G 17: 35,057,367 (GRCm39) E253G probably damaging Het
Enpp1 T C 10: 24,523,929 (GRCm39) Y747C probably damaging Het
Gga2 T C 7: 121,601,389 (GRCm39) E238G possibly damaging Het
Gpn3 C T 5: 122,510,638 (GRCm39) probably benign Het
Grik4 A T 9: 42,477,632 (GRCm39) M518K probably damaging Het
Igf2r T A 17: 12,933,000 (GRCm39) S841C probably damaging Het
Itfg1 G T 8: 86,567,258 (GRCm39) T37K probably damaging Het
Kcnn4 T A 7: 24,081,165 (GRCm39) M301K possibly damaging Het
Kel C A 6: 41,679,381 (GRCm39) E127D probably benign Het
Lrp4 A G 2: 91,310,666 (GRCm39) Y569C probably damaging Het
Lrp6 A T 6: 134,518,798 (GRCm39) V89D possibly damaging Het
Mical2 A G 7: 111,927,884 (GRCm39) D674G possibly damaging Het
Mnd1 A G 3: 84,049,071 (GRCm39) S2P possibly damaging Het
Neb T A 2: 52,053,023 (GRCm39) probably null Het
Or51af1 T C 7: 103,141,932 (GRCm39) E51G possibly damaging Het
Or5h23 A G 16: 58,906,384 (GRCm39) I154T probably benign Het
Or8g17 A G 9: 38,930,810 (GRCm39) V9A probably damaging Het
Pcca G A 14: 122,820,035 (GRCm39) V60M probably damaging Het
Plekhm3 A T 1: 64,961,093 (GRCm39) Y388N probably benign Het
Prr18 G T 17: 8,560,143 (GRCm39) V100F probably damaging Het
Rnf25 T C 1: 74,634,890 (GRCm39) Y44C probably damaging Het
Smg6 T C 11: 75,047,048 (GRCm39) L1247P probably damaging Het
Spata31e2 G A 1: 26,724,482 (GRCm39) R233C probably benign Het
Tdh T C 14: 63,733,186 (GRCm39) T137A probably benign Het
Tmem200a A G 10: 25,869,393 (GRCm39) V292A probably damaging Het
Ubr3 T C 2: 69,803,758 (GRCm39) V1116A probably benign Het
Ubr4 G A 4: 139,136,200 (GRCm39) E942K possibly damaging Het
Unc5b G A 10: 60,614,580 (GRCm39) A239V probably damaging Het
Vill G C 9: 118,892,716 (GRCm39) Q376H probably benign Het
Vmn2r115 A G 17: 23,566,877 (GRCm39) E463G possibly damaging Het
Other mutations in Dhx32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:Dhx32 APN 7 133,350,706 (GRCm39) missense possibly damaging 0.76
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
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
Predicted Primers PCR Primer
(F):5'- AAGCCTCTGACCCTCAATTTG -3'
(R):5'- TTGTGTGTCAGGAAGGATCC -3'

Sequencing Primer
(F):5'- CTCAATTTGTTTCCAGACTACCAAG -3'
(R):5'- GGATCCAACTTAAACCCAGATGTGG -3'
Posted On 2018-04-02