Incidental Mutation 'R1659:Ddx51'
ID 186584
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 039695-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1659 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 110801317-110808362 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110802986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 254 (I254N)
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: I254N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031478
Gene: ENSMUSG00000029504
AA Change: I254N

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: ENSMUST00000150100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199795
Predicted Effect probably benign
Transcript: ENSMUST00000148773
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T A 5: 4,114,633 (GRCm39) L87Q probably damaging Het
Atp13a5 T G 16: 29,112,251 (GRCm39) D630A probably benign Het
Brd7 G T 8: 89,060,420 (GRCm39) P568T probably damaging Het
Ccdc141 A G 2: 76,885,027 (GRCm39) L538P probably benign Het
Cd177 G T 7: 24,445,562 (GRCm39) T627K probably damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdhr2 T A 13: 54,867,574 (GRCm39) I468N probably damaging Het
Cdk14 T C 5: 4,999,571 (GRCm39) T338A probably benign Het
Celsr2 G A 3: 108,321,411 (GRCm39) T467I probably benign Het
Chrd A G 16: 20,554,581 (GRCm39) E380G probably damaging Het
Cnnm4 C A 1: 36,511,246 (GRCm39) T158N probably benign Het
Deptor G A 15: 55,081,670 (GRCm39) probably null Het
Dnah11 T A 12: 118,084,459 (GRCm39) H1215L possibly damaging Het
Dock1 A G 7: 134,390,972 (GRCm39) Y744C probably damaging Het
Dok7 C T 5: 35,236,483 (GRCm39) T257I possibly damaging Het
Eif4g1 T C 16: 20,499,811 (GRCm39) Y591H probably damaging Het
Fat3 T C 9: 15,908,479 (GRCm39) T2508A possibly damaging Het
Gm266 A G 12: 111,451,723 (GRCm39) V161A probably damaging Het
Golgb1 A G 16: 36,707,979 (GRCm39) I107V probably benign Het
Gpnmb T C 6: 49,024,786 (GRCm39) F273L probably damaging Het
Hcn1 A T 13: 118,112,610 (GRCm39) Q858L probably damaging Het
Hcrtr1 G T 4: 130,029,129 (GRCm39) Y224* probably null Het
Hepacam A G 9: 37,291,954 (GRCm39) D94G probably benign Het
Herc2 T A 7: 55,784,853 (GRCm39) H1432Q probably benign Het
Il20 T A 1: 130,836,086 (GRCm39) probably null Het
Itga10 A G 3: 96,570,293 (GRCm39) T1150A probably damaging Het
Itgax C T 7: 127,730,063 (GRCm39) T73I probably benign Het
Kdm6b T A 11: 69,298,414 (GRCm39) Q98L possibly damaging Het
Lrrc7 A G 3: 157,867,045 (GRCm39) W899R probably damaging Het
Meikin C A 11: 54,281,392 (GRCm39) S154* probably null Het
Mrgprg A T 7: 143,318,288 (GRCm39) S275T possibly damaging Het
Mstn C T 1: 53,103,236 (GRCm39) R191* probably null Het
Neu3 A G 7: 99,462,640 (GRCm39) I361T probably damaging Het
Nrxn3 A G 12: 90,299,165 (GRCm39) D425G probably damaging Het
Nup205 T A 6: 35,211,723 (GRCm39) M1688K probably benign Het
Omg C T 11: 79,393,726 (GRCm39) C44Y possibly damaging Het
Or1d2 A T 11: 74,255,759 (GRCm39) Q88L probably benign Het
Or52n3 A G 7: 104,530,387 (GRCm39) M158V probably benign Het
Pcdh8 T C 14: 80,005,574 (GRCm39) D938G probably damaging Het
Pp2d1 T C 17: 53,822,406 (GRCm39) D220G possibly damaging Het
Prune2 C T 19: 17,098,015 (GRCm39) T1173I possibly damaging Het
Rbfox3 T C 11: 118,384,981 (GRCm39) T359A probably damaging Het
Rhpn2 A G 7: 35,076,466 (GRCm39) Y339C probably damaging Het
Rpl7a-ps3 A G 15: 36,308,309 (GRCm39) noncoding transcript Het
Sars1 T C 3: 108,336,732 (GRCm39) E217G probably damaging Het
Sec61a2 A G 2: 5,891,345 (GRCm39) F62S possibly damaging Het
Slc12a7 T A 13: 73,938,790 (GRCm39) I189N probably damaging Het
Slc5a10 G A 11: 61,567,070 (GRCm39) A375V possibly damaging Het
Srfbp1 C T 18: 52,621,967 (GRCm39) H343Y possibly damaging Het
Tbck T G 3: 132,440,116 (GRCm39) I486M probably damaging Het
Thra G A 11: 98,647,805 (GRCm39) A60T probably damaging Het
Thsd7a T A 6: 12,504,063 (GRCm39) T364S possibly damaging Het
Ttc16 C T 2: 32,652,547 (GRCm39) D761N probably benign Het
Vwa7 T C 17: 35,238,047 (GRCm39) L216P probably benign Het
Ydjc T C 16: 16,965,703 (GRCm39) V156A possibly 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
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
R5966:Ddx51 UTSW 5 110,804,717 (GRCm39) missense probably damaging 1.00
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'- AGGTCCTTGACAATTTTCCAGCCC -3'
(R):5'- ACCTGCAAAAGGAGTCCGTCAC -3'

Sequencing Primer
(F):5'- GGTATAACACGGCCTATACTTGAC -3'
(R):5'- CTGGCCTAAGGCAGACTAAGC -3'
Posted On 2014-05-09