Incidental Mutation 'R7463:Ddx6'
ID 578565
Institutional Source Beutler Lab
Gene Symbol Ddx6
Ensembl Gene ENSMUSG00000032097
Gene Name DEAD (Asp-Glu-Ala-Asp) box polypeptide 6
Synonyms mRCK/P54, HLR2, rck, C430015D01Rik, 1110001P04Rik, p54, E230023J21Rik
MMRRC Submission 045537-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7463 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 44604892-44640731 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44628729 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 318 (E318G)
Ref Sequence ENSEMBL: ENSMUSP00000149620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170489] [ENSMUST00000217034]
AlphaFold P54823
Predicted Effect probably damaging
Transcript: ENSMUST00000170489
AA Change: E318G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128421
Gene: ENSMUSG00000032097
AA Change: E318G

DomainStartEndE-ValueType
low complexity region 30 41 N/A INTRINSIC
Blast:DEXDc 42 88 7e-18 BLAST
DEXDc 115 312 3.67e-52 SMART
HELICc 348 429 1.59e-29 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000217034
AA Change: E318G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.5568 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
Validation Efficiency 100% (62/62)
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. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,323,772 (GRCm38) V435E probably damaging Het
Acta2 G A 19: 34,252,531 (GRCm38) T8I probably benign Het
Adcy2 T C 13: 68,730,280 (GRCm38) D413G probably damaging Het
Adgrg6 T A 10: 14,434,396 (GRCm38) D727V possibly damaging Het
Aebp2 C T 6: 140,637,726 (GRCm38) Q309* probably null Het
Amy1 A T 3: 113,569,884 (GRCm38) C43* probably null Het
Bpifc T C 10: 85,979,334 (GRCm38) E256G probably benign Het
Bysl A T 17: 47,602,471 (GRCm38) S296T probably benign Het
Carmil3 C T 14: 55,502,396 (GRCm38) P980L probably damaging Het
Coch T A 12: 51,593,625 (GRCm38) M1K probably null Het
Cpt2 A T 4: 107,908,157 (GRCm38) F137I probably damaging Het
Crem T C 18: 3,295,094 (GRCm38) I112V probably benign Het
Cul9 A G 17: 46,520,476 (GRCm38) probably null Het
Cyp3a41a T A 5: 145,713,564 (GRCm38) I90F probably damaging Het
Cyp4f16 C T 17: 32,550,787 (GRCm38) A457V possibly damaging Het
Dip2b A G 15: 100,154,157 (GRCm38) E213G probably benign Het
Dlx5 T C 6: 6,878,316 (GRCm38) H238R probably damaging Het
Dnaic2 A C 11: 114,754,406 (GRCm38) I556L probably benign Het
Dnmt1 C T 9: 20,912,225 (GRCm38) V1147M possibly damaging Het
Egf G T 3: 129,740,015 (GRCm38) Q59K probably benign Het
Ermp1 A T 19: 29,646,262 (GRCm38) Y109* probably null Het
Fer1l6 T A 15: 58,573,601 (GRCm38) Y573* probably null Het
Fmnl1 T C 11: 103,193,128 (GRCm38) L503P probably damaging Het
Gnptab T G 10: 88,431,389 (GRCm38) I447M probably damaging Het
Hgf G A 5: 16,578,450 (GRCm38) D253N probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,266,277 (GRCm38) probably benign Het
Igf2r T C 17: 12,710,645 (GRCm38) T958A probably benign Het
Kcnd2 T A 6: 21,216,498 (GRCm38) L67Q probably damaging Het
Kif5a A G 10: 127,243,724 (GRCm38) V248A probably damaging Het
Krt33b A G 11: 100,029,563 (GRCm38) I88T probably damaging Het
Lhx2 G A 2: 38,351,846 (GRCm38) E25K possibly damaging Het
Mex3d C T 10: 80,381,698 (GRCm38) G562R Het
Myom2 A T 8: 15,117,679 (GRCm38) Y1088F probably null Het
Ncapg T A 5: 45,694,092 (GRCm38) probably null Het
Nudc A C 4: 133,534,403 (GRCm38) V190G possibly damaging Het
Obscn G T 11: 59,122,860 (GRCm38) R1054S probably benign Het
Olfr1045 T C 2: 86,197,838 (GRCm38) M305V probably benign Het
Olfr1510 A G 14: 52,410,711 (GRCm38) W54R probably benign Het
Olfr651 T C 7: 104,553,482 (GRCm38) S188P possibly damaging Het
Olfr683 T A 7: 105,143,937 (GRCm38) M119L probably benign Het
Olfr710 A T 7: 106,944,173 (GRCm38) V276E probably damaging Het
Olfr979 A G 9: 40,000,564 (GRCm38) V221A probably benign Het
Pcdh10 A T 3: 45,383,572 (GRCm38) R891S possibly damaging Het
Pcdh15 C T 10: 74,631,770 (GRCm38) S1873L possibly damaging Het
Pcdh7 A G 5: 57,720,998 (GRCm38) K632E probably benign Het
Pcdhgb8 G A 18: 37,763,427 (GRCm38) A517T probably damaging Het
Ptgr2 A T 12: 84,292,298 (GRCm38) probably benign Het
Ptpn18 G A 1: 34,473,364 (GRCm38) D417N possibly damaging Het
Racgap1 T A 15: 99,642,958 (GRCm38) T4S probably benign Het
Rb1cc1 A G 1: 6,249,180 (GRCm38) H941R probably benign Het
Reln T C 5: 22,103,435 (GRCm38) H312R probably damaging Het
Rnf166 T A 8: 122,467,987 (GRCm38) H208L probably damaging Het
Theg T C 10: 79,576,715 (GRCm38) E314G probably damaging Het
Timeless T C 10: 128,250,426 (GRCm38) S999P probably benign Het
Tmem94 G T 11: 115,786,256 (GRCm38) R118L possibly damaging Het
Tor1aip1 A T 1: 156,007,609 (GRCm38) H349Q possibly damaging Het
Ttn T A 2: 76,920,460 (GRCm38) E3415V probably benign Het
Vmn2r102 A T 17: 19,676,624 (GRCm38) N78Y probably damaging Het
Wdr11 A T 7: 129,607,086 (GRCm38) D427V probably damaging Het
Zer1 A T 2: 30,113,437 (GRCm38) probably benign Het
Zfp516 T A 18: 82,957,108 (GRCm38) M477K probably benign Het
Other mutations in Ddx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02561:Ddx6 APN 9 44,634,168 (GRCm38) missense probably damaging 0.96
IGL02880:Ddx6 APN 9 44,612,897 (GRCm38) splice site probably benign
R0278:Ddx6 UTSW 9 44,631,425 (GRCm38) missense probably damaging 1.00
R1330:Ddx6 UTSW 9 44,627,773 (GRCm38) splice site probably benign
R2001:Ddx6 UTSW 9 44,607,534 (GRCm38) missense probably benign
R2002:Ddx6 UTSW 9 44,607,534 (GRCm38) missense probably benign
R2124:Ddx6 UTSW 9 44,624,519 (GRCm38) nonsense probably null
R2177:Ddx6 UTSW 9 44,627,731 (GRCm38) missense probably damaging 1.00
R2347:Ddx6 UTSW 9 44,607,591 (GRCm38) missense probably benign 0.00
R2863:Ddx6 UTSW 9 44,614,256 (GRCm38) missense probably damaging 1.00
R2865:Ddx6 UTSW 9 44,614,256 (GRCm38) missense probably damaging 1.00
R4584:Ddx6 UTSW 9 44,624,487 (GRCm38) missense probably damaging 1.00
R4915:Ddx6 UTSW 9 44,612,873 (GRCm38) missense probably damaging 1.00
R5476:Ddx6 UTSW 9 44,607,456 (GRCm38) missense possibly damaging 0.67
R6213:Ddx6 UTSW 9 44,628,693 (GRCm38) missense probably damaging 0.99
R6264:Ddx6 UTSW 9 44,628,752 (GRCm38) missense probably damaging 1.00
R6368:Ddx6 UTSW 9 44,635,776 (GRCm38) missense probably damaging 1.00
R6525:Ddx6 UTSW 9 44,623,629 (GRCm38) missense probably damaging 1.00
R6994:Ddx6 UTSW 9 44,628,723 (GRCm38) missense probably damaging 0.98
R7252:Ddx6 UTSW 9 44,623,753 (GRCm38) splice site probably null
R7706:Ddx6 UTSW 9 44,627,642 (GRCm38) missense probably damaging 1.00
R7752:Ddx6 UTSW 9 44,627,663 (GRCm38) missense probably damaging 1.00
R7784:Ddx6 UTSW 9 44,630,142 (GRCm38) critical splice donor site probably null
RF004:Ddx6 UTSW 9 44,624,492 (GRCm38) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- GATTCATCCTTTAGAGCAAGAGAC -3'
(R):5'- AAGCACCTGTGTCAATCAGTTTC -3'

Sequencing Primer
(F):5'- AATGACTGTGTTCCCTCC -3'
(R):5'- GTTTCAACTGTAAGCCAATTAAAGC -3'
Posted On 2019-10-07