Incidental Mutation 'R5966:Ddx51'
ID 472087
Institutional Source Beutler Lab
Gene Symbol Ddx51
Ensembl Gene ENSMUSG00000029504
Gene Name DEAD box helicase 51
Synonyms 2310061O04Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 51
MMRRC Submission 044151-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5966 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 110801317-110808362 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110804717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 543 (D543G)
Ref Sequence ENSEMBL: ENSMUSP00000031478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031478] [ENSMUST00000042147] [ENSMUST00000148773]
AlphaFold Q6P9R1
Predicted Effect probably damaging
Transcript: ENSMUST00000031478
AA Change: D543G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031478
Gene: ENSMUSG00000029504
AA Change: D543G

DomainStartEndE-ValueType
low complexity region 50 75 N/A INTRINSIC
DEXDc 189 442 4.04e-40 SMART
HELICc 491 573 2.86e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000042147
SMART Domains Protein: ENSMUSP00000038263
Gene: ENSMUSG00000033294

DomainStartEndE-ValueType
Pfam:CBF 305 453 2.7e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145712
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199795
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196771
Predicted Effect probably benign
Transcript: ENSMUST00000148773
Meta Mutation Damage Score 0.9591 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.5%
Validation Efficiency 94% (79/84)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik A T 10: 115,415,717 (GRCm39) probably benign Het
Acaa2 T C 18: 74,937,223 (GRCm39) L369S probably damaging Het
Akna A G 4: 63,313,140 (GRCm39) S328P probably damaging Het
Albfm1 A G 5: 90,719,546 (GRCm39) Y214C probably damaging Het
Apc A G 18: 34,354,140 (GRCm39) probably benign Het
Brca2 C T 5: 150,466,716 (GRCm39) T2160I probably damaging Het
Camsap2 A G 1: 136,204,330 (GRCm39) S1251P probably damaging Het
Ccdc110 A G 8: 46,395,573 (GRCm39) E488G probably damaging Het
Ccdc158 T A 5: 92,797,908 (GRCm39) I411F probably damaging Het
Cd163 C T 6: 124,297,595 (GRCm39) Q914* probably null Het
Cd22 T C 7: 30,566,083 (GRCm39) D827G probably damaging Het
Ces1e A G 8: 93,946,001 (GRCm39) probably null Het
Col14a1 T C 15: 55,315,779 (GRCm39) probably null Het
Csmd3 T A 15: 47,713,135 (GRCm39) D1509V probably damaging Het
Diaph3 T A 14: 87,222,261 (GRCm39) I408F probably damaging Het
Dld G A 12: 31,390,325 (GRCm39) P213L probably damaging Het
Dnah6 T C 6: 73,037,262 (GRCm39) T3327A probably benign Het
Dnttip2 T A 3: 122,078,817 (GRCm39) probably benign Het
Dock10 T C 1: 80,546,225 (GRCm39) E791G possibly damaging Het
Ehd3 G T 17: 74,134,356 (GRCm39) W238C probably damaging Het
Ehd3 T G 17: 74,134,361 (GRCm39) L240R probably damaging Het
Ep400 A G 5: 110,824,766 (GRCm39) V2357A unknown Het
Fam20c T C 5: 138,741,932 (GRCm39) V181A probably damaging Het
Gm4781 T C 10: 100,232,814 (GRCm39) noncoding transcript Het
Gpatch8 A T 11: 102,371,058 (GRCm39) S827T unknown Het
Grm3 A T 5: 9,561,930 (GRCm39) I640N probably damaging Het
Gstm7 A G 3: 107,838,747 (GRCm39) probably benign Het
Hdac7 G T 15: 97,700,372 (GRCm39) H572Q probably damaging Het
Ift140 C T 17: 25,313,735 (GRCm39) Q1389* probably null Het
Igfn1 A G 1: 135,893,152 (GRCm39) V2099A probably damaging Het
Ik A G 18: 36,888,531 (GRCm39) N443S possibly damaging Het
Impact A G 18: 13,123,601 (GRCm39) K315E probably benign Het
Insr C A 8: 3,308,697 (GRCm39) R113L probably benign Het
Jak2 T A 19: 29,260,954 (GRCm39) Y317N possibly damaging Het
Kif18a T A 2: 109,122,411 (GRCm39) V162E probably damaging Het
L3mbtl3 A G 10: 26,207,762 (GRCm39) V319A unknown Het
Lepr T C 4: 101,649,324 (GRCm39) probably benign Het
Lmo7 C T 14: 102,137,938 (GRCm39) T647I possibly damaging Het
Mindy3 C T 2: 12,405,854 (GRCm39) R147Q probably benign Het
Mtr T C 13: 12,230,453 (GRCm39) probably null Het
Muc4 A T 16: 32,576,652 (GRCm39) probably benign Het
Nrip1 G A 16: 76,090,471 (GRCm39) T362M possibly damaging Het
Or1j17 G T 2: 36,578,074 (GRCm39) R20L probably null Het
Or1q1 T C 2: 36,886,957 (GRCm39) I45T possibly damaging Het
Or5d45 A G 2: 88,153,222 (GRCm39) S276P probably benign Het
Ovol1 G A 19: 5,601,630 (GRCm39) R131C probably damaging Het
Pcca T C 14: 122,905,998 (GRCm39) V323A probably damaging Het
Pcdhb14 A T 18: 37,581,295 (GRCm39) M134L probably benign Het
Pecam1 G A 11: 106,581,887 (GRCm39) T252M probably benign Het
Rnd3 T A 2: 51,022,536 (GRCm39) I169F probably damaging Het
Rnmt T A 18: 68,444,689 (GRCm39) D219E probably benign Het
Rufy1 A T 11: 50,292,315 (GRCm39) F491L probably benign Het
Ryr2 G T 13: 11,677,124 (GRCm39) C3242* probably null Het
Smurf2 G T 11: 106,766,727 (GRCm39) R31S possibly damaging Het
Sptbn1 A G 11: 30,074,873 (GRCm39) I1333T probably damaging Het
Stard9 G A 2: 120,527,580 (GRCm39) C1279Y probably damaging Het
Sugp2 T C 8: 70,704,753 (GRCm39) probably null Het
Sulf1 A T 1: 12,929,636 (GRCm39) D301V probably benign Het
Tbcd G T 11: 121,492,737 (GRCm39) probably benign Het
Tlr11 T C 14: 50,599,712 (GRCm39) I566T probably benign Het
Tm9sf2 T A 14: 122,374,921 (GRCm39) probably benign Het
Tnfaip8l1 T C 17: 56,478,799 (GRCm39) F30L probably benign Het
Trav15-2-dv6-2 T A 14: 53,887,433 (GRCm39) C118S probably damaging Het
Ttc13 A G 8: 125,408,959 (GRCm39) probably benign Het
Ubqln3 A T 7: 103,790,906 (GRCm39) S395T probably benign Het
Urb2 A G 8: 124,754,827 (GRCm39) D178G probably benign Het
Usf3 A G 16: 44,041,222 (GRCm39) I1901V probably benign Het
Vmn1r173 A T 7: 23,402,112 (GRCm39) I116F probably benign Het
Vmn1r69 T A 7: 10,314,717 (GRCm39) T5S probably benign Het
Wbp1l C T 19: 46,642,619 (GRCm39) R191* probably null Het
Wfikkn2 C T 11: 94,129,688 (GRCm39) R151H probably damaging Het
Other mutations in Ddx51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01103:Ddx51 APN 5 110,803,729 (GRCm39) missense probably benign 0.00
IGL01688:Ddx51 APN 5 110,803,513 (GRCm39) missense probably benign 0.37
IGL02993:Ddx51 APN 5 110,803,487 (GRCm39) missense possibly damaging 0.93
IGL03149:Ddx51 APN 5 110,801,600 (GRCm39) missense probably benign
R1659:Ddx51 UTSW 5 110,802,986 (GRCm39) missense probably damaging 0.99
R2036:Ddx51 UTSW 5 110,804,491 (GRCm39) missense probably benign 0.01
R2211:Ddx51 UTSW 5 110,803,634 (GRCm39) missense probably damaging 1.00
R4705:Ddx51 UTSW 5 110,803,174 (GRCm39) missense probably damaging 1.00
R5239:Ddx51 UTSW 5 110,801,514 (GRCm39) missense probably benign
R5255:Ddx51 UTSW 5 110,803,908 (GRCm39) missense possibly damaging 0.67
R5711:Ddx51 UTSW 5 110,802,790 (GRCm39) missense probably benign 0.03
R6970:Ddx51 UTSW 5 110,804,728 (GRCm39) missense probably damaging 1.00
R7374:Ddx51 UTSW 5 110,804,998 (GRCm39) missense probably damaging 1.00
R7664:Ddx51 UTSW 5 110,804,785 (GRCm39) critical splice donor site probably null
Z1176:Ddx51 UTSW 5 110,802,424 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAGATCCAGCTGTGAGTACCAG -3'
(R):5'- ACAGGACAGTGCCTCTCTTG -3'

Sequencing Primer
(F):5'- CCAGCTGTGAGTACCAGGGAAAC -3'
(R):5'- TGGCCATACTGTACATGACCATC -3'
Posted On 2017-03-31