Incidental Mutation 'IGL02320:Ddx23'
ID288187
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx23
Ensembl Gene ENSMUSG00000003360
Gene NameDEAD (Asp-Glu-Ala-Asp) box polypeptide 23
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02320
Quality Score
Status
Chromosome15
Chromosomal Location98645134-98662894 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 98650938 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 328 (T328A)
Ref Sequence ENSEMBL: ENSMUSP00000003450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003450]
Predicted Effect possibly damaging
Transcript: ENSMUST00000003450
AA Change: T328A

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000003450
Gene: ENSMUSG00000003360
AA Change: T328A

DomainStartEndE-ValueType
coiled coil region 63 93 N/A INTRINSIC
low complexity region 110 130 N/A INTRINSIC
low complexity region 143 159 N/A INTRINSIC
coiled coil region 161 200 N/A INTRINSIC
low complexity region 210 223 N/A INTRINSIC
coiled coil region 320 352 N/A INTRINSIC
DEXDc 409 641 2.95e-65 SMART
HELICc 677 758 2.43e-34 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161030
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. 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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,574,112 S146P probably damaging Het
Ap1m2 A T 9: 21,299,324 Y336* probably null Het
Arap1 T C 7: 101,385,029 L226P probably benign Het
Cacna1c T A 6: 118,637,792 N1150Y probably damaging Het
Ccsap G T 8: 123,842,438 H221Q probably damaging Het
Ceacam3 T A 7: 17,161,940 Y612N probably benign Het
Col12a1 A G 9: 79,616,021 probably null Het
Depdc1a T A 3: 159,516,933 M252K probably damaging Het
Dpcr1 A T 17: 35,637,440 N422K probably benign Het
Fam57a A G 11: 76,205,405 M120V probably damaging Het
Fpr2 A C 17: 17,893,346 R201S probably benign Het
Ighv1-20 A G 12: 114,723,843 S94P probably damaging Het
Itgb7 A C 15: 102,224,337 V180G probably benign Het
Mmp13 G T 9: 7,278,941 R344L probably benign Het
Ncam2 C T 16: 81,434,837 S63L probably damaging Het
Olfr472 C T 7: 107,902,831 T38I possibly damaging Het
Pde9a G A 17: 31,459,085 C187Y probably damaging Het
Sh2b1 A G 7: 126,469,169 L490P probably benign Het
Shank2 A G 7: 144,420,944 T1193A probably damaging Het
Shisa2 T A 14: 59,629,797 M166K probably damaging Het
Smg7 A T 1: 152,868,337 S40T possibly damaging Het
Spef2 A C 15: 9,717,576 S285A probably damaging Het
Tcrg-V7 C A 13: 19,178,079 P13Q unknown Het
Ttn A G 2: 76,939,312 probably benign Het
Tyw5 A G 1: 57,396,725 probably null Het
Vars2 A G 17: 35,660,454 V212A probably benign Het
Vmn2r1 T C 3: 64,081,759 S40P possibly damaging Het
Wwc2 A G 8: 47,863,847 probably null Het
Zbed6 T C 1: 133,657,673 N642S probably damaging Het
Zfp423 A T 8: 87,781,602 C580S probably damaging Het
Zfp64 A G 2: 168,926,198 V498A probably damaging Het
Other mutations in Ddx23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01106:Ddx23 APN 15 98650940 missense probably benign 0.02
IGL02325:Ddx23 APN 15 98647193 missense possibly damaging 0.80
IGL02456:Ddx23 APN 15 98647549 missense probably damaging 1.00
IGL02514:Ddx23 APN 15 98658318 missense unknown
IGL03173:Ddx23 APN 15 98651004 missense probably benign 0.31
BB007:Ddx23 UTSW 15 98648623 missense probably damaging 1.00
BB017:Ddx23 UTSW 15 98648623 missense probably damaging 1.00
R0077:Ddx23 UTSW 15 98656600 critical splice donor site probably null
R1930:Ddx23 UTSW 15 98650718 missense possibly damaging 0.93
R1931:Ddx23 UTSW 15 98650718 missense possibly damaging 0.93
R1932:Ddx23 UTSW 15 98650718 missense possibly damaging 0.93
R3546:Ddx23 UTSW 15 98650732 missense probably damaging 0.99
R4174:Ddx23 UTSW 15 98658251 missense unknown
R4574:Ddx23 UTSW 15 98647624 missense probably damaging 1.00
R4728:Ddx23 UTSW 15 98650225 missense probably damaging 1.00
R4774:Ddx23 UTSW 15 98647235 missense probably benign 0.00
R4811:Ddx23 UTSW 15 98647471 splice site probably null
R5134:Ddx23 UTSW 15 98650770 missense possibly damaging 0.48
R5895:Ddx23 UTSW 15 98651951 missense probably benign 0.00
R5952:Ddx23 UTSW 15 98658240 missense unknown
R6012:Ddx23 UTSW 15 98650770 missense possibly damaging 0.48
R6289:Ddx23 UTSW 15 98649884 missense probably benign 0.05
R6705:Ddx23 UTSW 15 98652968 nonsense probably null
R7289:Ddx23 UTSW 15 98648611 missense probably damaging 0.98
R7484:Ddx23 UTSW 15 98648689 missense probably damaging 0.99
R7543:Ddx23 UTSW 15 98658258 missense unknown
R7740:Ddx23 UTSW 15 98658434 start codon destroyed probably null
R7930:Ddx23 UTSW 15 98648623 missense probably damaging 1.00
R8084:Ddx23 UTSW 15 98658264 missense unknown
Z1088:Ddx23 UTSW 15 98647621 missense probably benign 0.14
Posted On2015-04-16