Incidental Mutation 'R0279:Ddx10'
ID 24557
Institutional Source Beutler Lab
Gene Symbol Ddx10
Ensembl Gene ENSMUSG00000053289
Gene Name DEAD box helicase 10
Synonyms 4632415A01Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 10
MMRRC Submission 038501-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R0279 (G1)
Quality Score 216
Status Validated
Chromosome 9
Chromosomal Location 53009935-53159353 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53146604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 206 (D206G)
Ref Sequence ENSEMBL: ENSMUSP00000065198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065630]
AlphaFold Q80Y44
Predicted Effect probably damaging
Transcript: ENSMUST00000065630
AA Change: D206G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065198
Gene: ENSMUSG00000053289
AA Change: D206G

DomainStartEndE-ValueType
low complexity region 24 43 N/A INTRINSIC
DEXDc 88 291 1.74e-53 SMART
HELICc 327 410 8.48e-25 SMART
DUF4217 450 513 6.06e-25 SMART
low complexity region 577 594 N/A INTRINSIC
low complexity region 627 637 N/A INTRINSIC
low complexity region 658 680 N/A INTRINSIC
low complexity region 748 773 N/A INTRINSIC
Meta Mutation Damage Score 0.6937 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 95.1%
  • 20x: 89.6%
Validation Efficiency 99% (82/83)
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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit craniofacial defects, including decreased cranium length, cleft palate, and short snout, and show reduced body size, body weight, lean body mass, and bone mineral content. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610528J11Rik A T 4: 118,386,490 (GRCm39) M1L probably benign Het
5730596B20Rik T A 6: 52,156,182 (GRCm39) probably benign Het
Acrbp T C 6: 125,030,917 (GRCm39) probably null Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Acss3 A G 10: 106,920,732 (GRCm39) I126T possibly damaging Het
Aff3 T C 1: 38,574,650 (GRCm39) E110G probably damaging Het
Aldh1a3 T C 7: 66,059,000 (GRCm39) I113V probably benign Het
Aplp2 T C 9: 31,069,086 (GRCm39) E525G probably damaging Het
Atp2b4 A G 1: 133,657,440 (GRCm39) probably benign Het
Atp8a1 C T 5: 67,970,435 (GRCm39) probably null Het
Bhmt A G 13: 93,761,972 (GRCm39) C104R probably damaging Het
Cct5 T G 15: 31,591,177 (GRCm39) E508A probably damaging Het
Celsr1 T A 15: 85,787,065 (GRCm39) E2761D probably benign Het
Clstn1 T C 4: 149,728,131 (GRCm39) S600P probably damaging Het
Cnppd1 A G 1: 75,113,573 (GRCm39) S232P probably damaging Het
Crybb3 T C 5: 113,227,619 (GRCm39) probably null Het
Csmd1 A G 8: 16,273,249 (GRCm39) I861T probably damaging Het
Cyp2d10 A C 15: 82,289,540 (GRCm39) S191A possibly damaging Het
Dnah1 G T 14: 31,024,332 (GRCm39) H916N possibly damaging Het
Dnah9 A G 11: 65,802,615 (GRCm39) probably null Het
Epb42 G A 2: 120,859,525 (GRCm39) probably benign Het
Etnppl A G 3: 130,423,062 (GRCm39) R248G probably damaging Het
Eya3 T C 4: 132,446,558 (GRCm39) F369L probably damaging Het
Fam170b T C 14: 32,556,025 (GRCm39) probably benign Het
Fli1 A T 9: 32,372,723 (GRCm39) V105D probably damaging Het
Fmo1 T C 1: 162,657,841 (GRCm39) I433M possibly damaging Het
Fndc3b C A 3: 27,511,155 (GRCm39) C785F probably benign Het
Foxe3 T C 4: 114,782,765 (GRCm39) D149G probably damaging Het
Gk5 T C 9: 96,056,857 (GRCm39) probably benign Het
Gm14226 A G 2: 154,867,372 (GRCm39) D443G possibly damaging Het
Gm9796 C T 11: 95,588,821 (GRCm39) noncoding transcript Het
Golga4 A T 9: 118,398,061 (GRCm39) R52S probably benign Het
Hey2 C A 10: 30,710,006 (GRCm39) C249F probably damaging Het
Ipo9 A T 1: 135,348,101 (GRCm39) probably benign Het
Ireb2 C A 9: 54,793,877 (GRCm39) T269K probably benign Het
Kansl3 A G 1: 36,391,050 (GRCm39) V274A probably damaging Het
Kcnk2 C T 1: 188,942,169 (GRCm39) A352T possibly damaging Het
Lamc2 T C 1: 153,006,442 (GRCm39) E903G probably benign Het
Lepr A G 4: 101,607,541 (GRCm39) K253R probably benign Het
Lmntd2 T C 7: 140,793,536 (GRCm39) probably benign Het
Lrrc39 A T 3: 116,371,952 (GRCm39) T240S probably benign Het
Lrrc43 A G 5: 123,635,085 (GRCm39) probably null Het
Maf T C 8: 116,432,495 (GRCm39) M370V possibly damaging Het
Mib2 G A 4: 155,745,673 (GRCm39) S46L possibly damaging Het
Mms22l C T 4: 24,497,867 (GRCm39) T63I probably damaging Het
Morc2a T A 11: 3,633,989 (GRCm39) S700R probably benign Het
Mpz A G 1: 170,987,498 (GRCm39) probably benign Het
Ncam2 T C 16: 81,420,225 (GRCm39) probably benign Het
Niban1 T C 1: 151,584,957 (GRCm39) probably null Het
Nudt14 C T 12: 112,902,037 (GRCm39) A123T probably damaging Het
Odad3 A G 9: 21,901,543 (GRCm39) probably benign Het
Or10h1 C T 17: 33,418,298 (GRCm39) T92I probably benign Het
Or2a7 G A 6: 43,151,692 (GRCm39) M257I probably benign Het
Or9g20 A T 2: 85,629,879 (GRCm39) I245N possibly damaging Het
Otoa T C 7: 120,710,302 (GRCm39) probably benign Het
Pik3cg G A 12: 32,254,790 (GRCm39) T399I probably damaging Het
Pkn3 C T 2: 29,973,309 (GRCm39) A377V probably benign Het
Ppan A G 9: 20,802,825 (GRCm39) N327S probably benign Het
Prkca T C 11: 107,944,937 (GRCm39) probably benign Het
Prrc2c A T 1: 162,543,033 (GRCm39) V320E probably damaging Het
Ptprq A G 10: 107,444,278 (GRCm39) V1442A probably damaging Het
Rapgef1 C T 2: 29,616,239 (GRCm39) R834C probably damaging Het
Rbms1 G T 2: 60,672,754 (GRCm39) N44K probably damaging Het
Rfwd3 A C 8: 112,009,365 (GRCm39) F404V probably benign Het
Rimbp3 G T 16: 17,027,317 (GRCm39) R247L probably benign Het
Serpinb1b T C 13: 33,277,696 (GRCm39) S310P possibly damaging Het
Smtn C A 11: 3,480,235 (GRCm39) V329L probably damaging Het
Snapc2 T C 8: 4,304,979 (GRCm39) probably benign Het
Spam1 A T 6: 24,800,418 (GRCm39) M386L probably benign Het
Syne2 A G 12: 76,142,387 (GRCm39) E6208G probably damaging Het
Teddm1a T C 1: 153,768,369 (GRCm39) Y278H probably damaging Het
Tnfaip6 A T 2: 51,945,928 (GRCm39) N258I possibly damaging Het
Trpm4 C T 7: 44,971,472 (GRCm39) R188Q probably damaging Het
Ttbk2 A T 2: 120,579,441 (GRCm39) H491Q probably benign Het
Urgcp C T 11: 5,666,989 (GRCm39) E450K probably benign Het
Vmn1r228 T C 17: 20,996,637 (GRCm39) N294D probably benign Het
Wdfy3 A T 5: 102,015,958 (GRCm39) C2606S probably damaging Het
Wdr33 T A 18: 32,021,377 (GRCm39) H642Q unknown Het
Zbtb46 A G 2: 181,053,567 (GRCm39) S382P possibly damaging Het
Zfp217 A G 2: 169,961,700 (GRCm39) I209T probably benign Het
Zranb3 T A 1: 127,891,510 (GRCm39) N822I probably benign Het
Other mutations in Ddx10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Ddx10 APN 9 53,071,326 (GRCm39) splice site probably benign
IGL01111:Ddx10 APN 9 53,071,248 (GRCm39) missense possibly damaging 0.73
IGL01773:Ddx10 APN 9 53,115,430 (GRCm39) missense possibly damaging 0.94
IGL01837:Ddx10 APN 9 53,140,498 (GRCm39) missense probably benign 0.16
IGL02036:Ddx10 APN 9 53,115,483 (GRCm39) missense probably benign 0.00
IGL02236:Ddx10 APN 9 53,146,682 (GRCm39) missense probably damaging 1.00
IGL02939:Ddx10 APN 9 53,115,579 (GRCm39) missense possibly damaging 0.63
IGL03294:Ddx10 APN 9 53,028,452 (GRCm39) critical splice donor site probably null
R1439:Ddx10 UTSW 9 53,151,787 (GRCm39) missense probably damaging 1.00
R1501:Ddx10 UTSW 9 53,145,297 (GRCm39) missense possibly damaging 0.85
R1529:Ddx10 UTSW 9 53,028,499 (GRCm39) nonsense probably null
R1548:Ddx10 UTSW 9 53,060,861 (GRCm39) critical splice acceptor site probably null
R1717:Ddx10 UTSW 9 53,071,253 (GRCm39) missense probably benign 0.25
R1720:Ddx10 UTSW 9 53,149,371 (GRCm39) missense probably damaging 1.00
R1781:Ddx10 UTSW 9 53,118,845 (GRCm39) missense probably damaging 1.00
R2005:Ddx10 UTSW 9 53,151,775 (GRCm39) critical splice donor site probably null
R2007:Ddx10 UTSW 9 53,124,578 (GRCm39) missense probably benign 0.06
R2073:Ddx10 UTSW 9 53,151,805 (GRCm39) missense probably benign 0.28
R2075:Ddx10 UTSW 9 53,151,805 (GRCm39) missense probably benign 0.28
R2133:Ddx10 UTSW 9 53,060,812 (GRCm39) missense probably benign 0.13
R4660:Ddx10 UTSW 9 53,147,698 (GRCm39) critical splice donor site probably null
R4668:Ddx10 UTSW 9 53,010,513 (GRCm39) missense possibly damaging 0.55
R4706:Ddx10 UTSW 9 53,145,231 (GRCm39) missense probably damaging 1.00
R4814:Ddx10 UTSW 9 53,115,405 (GRCm39) missense possibly damaging 0.54
R5394:Ddx10 UTSW 9 53,145,157 (GRCm39) nonsense probably null
R5655:Ddx10 UTSW 9 53,120,987 (GRCm39) critical splice donor site probably null
R5874:Ddx10 UTSW 9 53,140,498 (GRCm39) missense possibly damaging 0.95
R6341:Ddx10 UTSW 9 53,115,551 (GRCm39) missense probably benign 0.00
R6534:Ddx10 UTSW 9 53,134,988 (GRCm39) missense probably damaging 1.00
R6801:Ddx10 UTSW 9 53,159,207 (GRCm39) nonsense probably null
R6994:Ddx10 UTSW 9 53,115,411 (GRCm39) missense probably damaging 0.99
R7155:Ddx10 UTSW 9 53,028,588 (GRCm39) missense probably benign 0.00
R7380:Ddx10 UTSW 9 53,151,786 (GRCm39) missense probably damaging 1.00
R7753:Ddx10 UTSW 9 53,136,904 (GRCm39) missense probably damaging 1.00
R8101:Ddx10 UTSW 9 53,136,820 (GRCm39) missense probably damaging 0.98
R8782:Ddx10 UTSW 9 53,146,588 (GRCm39) missense probably damaging 0.99
R8962:Ddx10 UTSW 9 53,149,377 (GRCm39) missense probably damaging 1.00
R8998:Ddx10 UTSW 9 53,140,534 (GRCm39) missense possibly damaging 0.64
R8999:Ddx10 UTSW 9 53,140,534 (GRCm39) missense possibly damaging 0.64
R9283:Ddx10 UTSW 9 53,146,656 (GRCm39) missense probably benign 0.01
X0019:Ddx10 UTSW 9 53,145,296 (GRCm39) missense probably damaging 1.00
X0063:Ddx10 UTSW 9 53,136,873 (GRCm39) missense probably damaging 1.00
Z1177:Ddx10 UTSW 9 53,115,811 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGACTCCATGCGTTCTTACACAGG -3'
(R):5'- TGTGGGTGTGCTACAGAACTGAAAG -3'

Sequencing Primer
(F):5'- ATTGGATTCCCAAAAGGTTCCC -3'
(R):5'- gaactgaaagggaaaagtggtg -3'
Posted On 2013-04-16