Incidental Mutation 'R4774:Ddx23'
ID 367795
Institutional Source Beutler Lab
Gene Symbol Ddx23
Ensembl Gene ENSMUSG00000003360
Gene Name DEAD box helicase 23
Synonyms 4921506D17Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 23, 3110082M05Rik
MMRRC Submission 042412-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4774 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 98543015-98560775 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98545116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 663 (D663E)
Ref Sequence ENSEMBL: ENSMUSP00000003450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003442] [ENSMUST00000003450] [ENSMUST00000109150] [ENSMUST00000230490]
AlphaFold D3Z0M9
Predicted Effect probably benign
Transcript: ENSMUST00000003442
SMART Domains Protein: ENSMUSP00000003442
Gene: ENSMUSG00000003352

DomainStartEndE-ValueType
Pfam:VGCC_beta4Aa_N 16 58 8.7e-22 PFAM
SH3 62 125 1.04e0 SMART
GuKc 176 357 1.3e-32 SMART
low complexity region 363 379 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000003450
AA Change: D663E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000003450
Gene: ENSMUSG00000003360
AA Change: D663E

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 probably benign
Transcript: ENSMUST00000109150
SMART Domains Protein: ENSMUSP00000104778
Gene: ENSMUSG00000003352

DomainStartEndE-ValueType
Pfam:VGCC_beta4Aa_N 15 57 2.2e-21 PFAM
SH3 61 124 1.04e0 SMART
GuKc 175 356 1.3e-32 SMART
low complexity region 362 378 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161030
Predicted Effect probably benign
Transcript: ENSMUST00000230490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230064
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 98% (97/99)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,585,043 (GRCm39) I844V probably damaging Het
Acnat1 T A 4: 49,450,784 (GRCm39) Y109F probably benign Het
Alox12b T C 11: 69,054,033 (GRCm39) V205A probably benign Het
Arl6ip1 G A 7: 117,721,208 (GRCm39) R77C probably damaging Het
Atp8b1 A G 18: 64,666,730 (GRCm39) C1156R possibly damaging Het
Atp8b3 A C 10: 80,372,156 (GRCm39) N24K probably damaging Het
Bdh1 T C 16: 31,273,954 (GRCm39) V209A possibly damaging Het
Blm A T 7: 80,113,596 (GRCm39) C1234S probably damaging Het
Caml A G 13: 55,779,740 (GRCm39) D271G possibly damaging Het
Capn11 T C 17: 45,944,006 (GRCm39) D545G probably benign Het
Catspere1 T C 1: 177,765,304 (GRCm39) noncoding transcript Het
Cep128 T C 12: 91,200,969 (GRCm39) E347G probably damaging Het
Cngb3 A G 4: 19,415,713 (GRCm39) T408A possibly damaging Het
Coa8 A G 12: 111,679,823 (GRCm39) T33A possibly damaging Het
Cog1 G A 11: 113,548,253 (GRCm39) R18Q possibly damaging Het
Cps1 T C 1: 67,259,671 (GRCm39) F1338L probably damaging Het
Csmd1 T C 8: 16,059,369 (GRCm39) H2122R probably benign Het
Ctu2 T G 8: 123,207,851 (GRCm39) S26A probably benign Het
Dbf4 G A 5: 8,453,062 (GRCm39) probably benign Het
Dpep2 T C 8: 106,717,388 (GRCm39) T123A possibly damaging Het
Eed A G 7: 89,613,976 (GRCm39) I274T probably damaging Het
Eif3b A G 5: 140,405,255 (GRCm39) D47G probably benign Het
Epas1 T C 17: 87,113,186 (GRCm39) V124A probably damaging Het
Fer1l6 T C 15: 58,449,798 (GRCm39) L668P probably damaging Het
Fnip2 C A 3: 79,373,028 (GRCm39) E1017* probably null Het
Gm43517 A T 12: 49,436,690 (GRCm39) probably benign Het
Got1 A G 19: 43,491,345 (GRCm39) probably null Het
H2-Eb2 T A 17: 34,553,375 (GRCm39) V187E probably damaging Het
H2-Q1 T C 17: 35,540,242 (GRCm39) probably benign Het
Hpgd T C 8: 56,751,454 (GRCm39) V94A probably damaging Het
Htra1 T A 7: 130,586,756 (GRCm39) N446K probably benign Het
Igkv3-4 T A 6: 70,649,269 (GRCm39) S89R probably damaging Het
Immt C T 6: 71,829,720 (GRCm39) T142I probably damaging Het
Itpkb C A 1: 180,245,759 (GRCm39) P759T probably damaging Het
Jmjd1c G A 10: 67,060,571 (GRCm39) V688I possibly damaging Het
Kbtbd13 G T 9: 65,298,025 (GRCm39) R304S probably benign Het
Lama5 A C 2: 179,827,734 (GRCm39) L2176R probably damaging Het
Lrp1b G C 2: 40,551,544 (GRCm39) L418V probably null Het
Lrrc4b C A 7: 44,111,796 (GRCm39) probably null Het
Lyst A G 13: 13,915,182 (GRCm39) N3292S probably damaging Het
Mep1b A T 18: 21,219,241 (GRCm39) I132F probably benign Het
Mettl2 A G 11: 105,017,436 (GRCm39) probably null Het
Nherf2 T C 17: 24,863,873 (GRCm39) M1V probably null Het
Niban1 A T 1: 151,591,445 (GRCm39) D529V probably damaging Het
Nmd3 T C 3: 69,652,569 (GRCm39) L385S probably benign Het
Nol4 T C 18: 23,045,683 (GRCm39) E243G probably damaging Het
Odad1 T A 7: 45,597,804 (GRCm39) S571R probably damaging Het
Or4l1 T A 14: 50,166,726 (GRCm39) I92F probably damaging Het
Or51k1 A G 7: 103,661,795 (GRCm39) I38T probably benign Het
Or5j3 A T 2: 86,129,042 (GRCm39) N294I possibly damaging Het
Or8b52 A G 9: 38,576,519 (GRCm39) I207T probably benign Het
Pcnp A G 16: 55,837,522 (GRCm39) probably benign Het
Pla2g6 A C 15: 79,171,818 (GRCm39) C680G probably damaging Het
Plekha7 G T 7: 115,744,178 (GRCm39) D661E probably damaging Het
Prim1 A T 10: 127,862,887 (GRCm39) probably benign Het
Psg29 T A 7: 16,944,460 (GRCm39) N323K probably benign Het
Ptrh2 G A 11: 86,580,833 (GRCm39) R150H probably damaging Het
Rasa1 A G 13: 85,398,621 (GRCm39) probably benign Het
Rasa3 T C 8: 13,627,501 (GRCm39) D667G probably benign Het
Rnase2a T C 14: 51,493,201 (GRCm39) N55D probably damaging Het
Rsf1 GCGGCGGCGGCGGCGGCGGC GCGGCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,123 (GRCm39) probably benign Het
Sbp T A 17: 24,164,218 (GRCm39) N133K probably damaging Het
Scml4 A G 10: 42,833,743 (GRCm39) probably benign Het
Sema5b T A 16: 35,483,552 (GRCm39) N1063K probably damaging Het
Serpind1 C T 16: 17,154,272 (GRCm39) T33M probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc15a2 A T 16: 36,602,057 (GRCm39) L80* probably null Het
Sorcs3 A G 19: 48,782,602 (GRCm39) D1039G probably benign Het
Spon1 A G 7: 113,639,102 (GRCm39) E776G probably damaging Het
Tdp1 C T 12: 99,868,623 (GRCm39) A259V possibly damaging Het
Tex46 C A 4: 136,337,991 (GRCm39) P61Q probably benign Het
Tnr T A 1: 159,724,636 (GRCm39) L1109Q probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpra1 G A 6: 88,887,661 (GRCm39) probably benign Het
Trim43c A T 9: 88,729,705 (GRCm39) H383L possibly damaging Het
Trip6 A G 5: 137,308,433 (GRCm39) C439R probably damaging Het
Tsen2 C T 6: 115,552,894 (GRCm39) S398L possibly damaging Het
Tubgcp2 T C 7: 139,576,074 (GRCm39) D863G probably damaging Het
Ube2d2a A G 18: 35,903,498 (GRCm39) probably benign Het
Umad1 T A 6: 8,427,181 (GRCm39) F145I probably damaging Het
Unc5c A T 3: 141,534,278 (GRCm39) E933V probably damaging Het
Vmn1r208 A G 13: 22,956,646 (GRCm39) F284L probably benign Het
Vmn2r53 T A 7: 12,334,692 (GRCm39) R323* probably null Het
Zan G A 5: 137,387,281 (GRCm39) T4924I unknown Het
Zfp597 G T 16: 3,683,851 (GRCm39) Q302K probably benign Het
Other mutations in Ddx23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01106:Ddx23 APN 15 98,548,821 (GRCm39) missense probably benign 0.02
IGL02320:Ddx23 APN 15 98,548,819 (GRCm39) missense possibly damaging 0.68
IGL02325:Ddx23 APN 15 98,545,074 (GRCm39) missense possibly damaging 0.80
IGL02456:Ddx23 APN 15 98,545,430 (GRCm39) missense probably damaging 1.00
IGL02514:Ddx23 APN 15 98,556,199 (GRCm39) missense unknown
IGL03173:Ddx23 APN 15 98,548,885 (GRCm39) missense probably benign 0.31
BB007:Ddx23 UTSW 15 98,546,504 (GRCm39) missense probably damaging 1.00
BB017:Ddx23 UTSW 15 98,546,504 (GRCm39) missense probably damaging 1.00
R0077:Ddx23 UTSW 15 98,554,481 (GRCm39) critical splice donor site probably null
R1930:Ddx23 UTSW 15 98,548,599 (GRCm39) missense possibly damaging 0.93
R1931:Ddx23 UTSW 15 98,548,599 (GRCm39) missense possibly damaging 0.93
R1932:Ddx23 UTSW 15 98,548,599 (GRCm39) missense possibly damaging 0.93
R3546:Ddx23 UTSW 15 98,548,613 (GRCm39) missense probably damaging 0.99
R4174:Ddx23 UTSW 15 98,556,132 (GRCm39) missense unknown
R4574:Ddx23 UTSW 15 98,545,505 (GRCm39) missense probably damaging 1.00
R4728:Ddx23 UTSW 15 98,548,106 (GRCm39) missense probably damaging 1.00
R4811:Ddx23 UTSW 15 98,545,352 (GRCm39) splice site probably null
R5134:Ddx23 UTSW 15 98,548,651 (GRCm39) missense possibly damaging 0.48
R5895:Ddx23 UTSW 15 98,549,832 (GRCm39) missense probably benign 0.00
R5952:Ddx23 UTSW 15 98,556,121 (GRCm39) missense unknown
R6012:Ddx23 UTSW 15 98,548,651 (GRCm39) missense possibly damaging 0.48
R6289:Ddx23 UTSW 15 98,547,765 (GRCm39) missense probably benign 0.05
R6705:Ddx23 UTSW 15 98,550,849 (GRCm39) nonsense probably null
R7289:Ddx23 UTSW 15 98,546,492 (GRCm39) missense probably damaging 0.98
R7484:Ddx23 UTSW 15 98,546,570 (GRCm39) missense probably damaging 0.99
R7543:Ddx23 UTSW 15 98,556,139 (GRCm39) missense unknown
R7740:Ddx23 UTSW 15 98,556,315 (GRCm39) start codon destroyed probably null
R7930:Ddx23 UTSW 15 98,546,504 (GRCm39) missense probably damaging 1.00
R8084:Ddx23 UTSW 15 98,556,145 (GRCm39) missense unknown
R9558:Ddx23 UTSW 15 98,545,433 (GRCm39) missense possibly damaging 0.49
Z1088:Ddx23 UTSW 15 98,545,502 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- TTAAACAGTGAGTGGAGCCG -3'
(R):5'- AGGTCTTCCTCATGTCGGAATC -3'

Sequencing Primer
(F):5'- GACACTCCCCACTCCATTCCTAG -3'
(R):5'- CTTCCTCATGTCGGAATCAGAAAAG -3'
Posted On 2015-12-29