Incidental Mutation 'R5774:Ddx52'
ID 445573
Institutional Source Beutler Lab
Gene Symbol Ddx52
Ensembl Gene ENSMUSG00000020677
Gene Name DExD box helicase 52
Synonyms ROK1, DEAD (Asp-Glu-Ala-Asp) box polypeptide 52, 2700029C06Rik
MMRRC Submission 043373-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R5774 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 83832888-83853914 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83836960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 150 (I150M)
Ref Sequence ENSEMBL: ENSMUSP00000048802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049257]
AlphaFold Q8K301
Predicted Effect probably damaging
Transcript: ENSMUST00000049257
AA Change: I150M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048802
Gene: ENSMUSG00000020677
AA Change: I150M

DomainStartEndE-ValueType
Blast:DEXDc 31 97 3e-15 BLAST
DEXDc 185 390 4.45e-51 SMART
HELICc 427 508 1.01e-31 SMART
low complexity region 544 560 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130982
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik C A 12: 18,581,668 (GRCm39) L62M probably damaging Het
Abcc9 G A 6: 142,574,285 (GRCm39) T949I probably damaging Het
Adam4 C T 12: 81,467,460 (GRCm39) S387N probably damaging Het
Akap11 T C 14: 78,748,407 (GRCm39) S1327G probably damaging Het
Arhgap1 A G 2: 91,484,453 (GRCm39) T12A possibly damaging Het
Arhgap28 A G 17: 68,188,487 (GRCm39) S228P possibly damaging Het
Atp6v1b2 A T 8: 69,554,613 (GRCm39) D106V probably damaging Het
Atp9b T G 18: 80,977,147 (GRCm39) D3A probably damaging Het
Bptf A G 11: 107,001,963 (GRCm39) F383S probably damaging Het
Cdh24 T C 14: 54,876,514 (GRCm39) T104A probably damaging Het
Cep55 A G 19: 38,051,103 (GRCm39) E171G probably damaging Het
Cntrl T A 2: 35,052,873 (GRCm39) M1126K probably benign Het
Cts3 A T 13: 61,716,184 (GRCm39) I59N probably damaging Het
Dennd6a T C 14: 26,300,974 (GRCm39) V62A probably benign Het
Dpep1 C A 8: 123,926,721 (GRCm39) D211E probably damaging Het
Gm1527 T C 3: 28,972,239 (GRCm39) V452A probably benign Het
Hmcn2 T C 2: 31,299,147 (GRCm39) V2831A possibly damaging Het
Hrob T A 11: 102,146,495 (GRCm39) I257N possibly damaging Het
Hydin G T 8: 111,298,547 (GRCm39) E3722* probably null Het
Il17a A G 1: 20,803,997 (GRCm39) S131G probably benign Het
Ing3 C T 6: 21,967,688 (GRCm39) P119S probably benign Het
Larp4b T A 13: 9,220,679 (GRCm39) probably null Het
Lca5l G T 16: 95,977,261 (GRCm39) Q177K probably benign Het
Lrrc61 C T 6: 48,545,133 (GRCm39) probably benign Het
Man2a2 T C 7: 80,018,106 (GRCm39) Y188C probably damaging Het
Mdk T C 2: 91,761,569 (GRCm39) E36G probably damaging Het
Mmp12 T C 9: 7,354,823 (GRCm39) I272T possibly damaging Het
Myh4 A T 11: 67,144,034 (GRCm39) K1135* probably null Het
Nup188 T A 2: 30,191,060 (GRCm39) Y96N probably damaging Het
Or8k33 A T 2: 86,384,351 (GRCm39) V39E possibly damaging Het
Pank4 G A 4: 155,065,119 (GRCm39) G806D probably damaging Het
Parp14 T C 16: 35,678,780 (GRCm39) Y396C probably damaging Het
Pcdhb8 T A 18: 37,489,738 (GRCm39) I472N probably damaging Het
Sema3a T A 5: 13,573,131 (GRCm39) W220R probably damaging Het
Slc35g3 A G 11: 69,651,124 (GRCm39) V309A probably damaging Het
Slc6a6 A G 6: 91,721,981 (GRCm39) M394V probably damaging Het
Specc1l G A 10: 75,081,234 (GRCm39) R210H probably damaging Het
Spocd1 T A 4: 129,845,579 (GRCm39) S480T probably benign Het
Sptbn5 T A 2: 119,880,939 (GRCm39) noncoding transcript Het
Srrm2 A G 17: 24,037,249 (GRCm39) probably benign Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Topbp1 A G 9: 103,205,698 (GRCm39) K779E probably benign Het
Trank1 T A 9: 111,220,294 (GRCm39) F2344I probably damaging Het
Ttll5 GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC G 12: 85,980,329 (GRCm39) probably null Het
Ube4a G A 9: 44,864,395 (GRCm39) P66L probably damaging Het
Utp6 A T 11: 79,844,424 (GRCm39) F200L probably benign Het
Vmn2r117 A T 17: 23,696,176 (GRCm39) H410Q probably damaging Het
Vps33b C T 7: 79,935,088 (GRCm39) H344Y probably benign Het
Xpo5 C T 17: 46,552,772 (GRCm39) R1145* probably null Het
Zbed4 T A 15: 88,665,852 (GRCm39) F640Y possibly damaging Het
Zfp618 C T 4: 63,050,799 (GRCm39) R527C probably damaging Het
Other mutations in Ddx52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02271:Ddx52 APN 11 83,843,057 (GRCm39) missense probably damaging 0.99
IGL02309:Ddx52 APN 11 83,839,304 (GRCm39) missense probably damaging 1.00
R0306:Ddx52 UTSW 11 83,835,474 (GRCm39) missense probably benign 0.22
R1636:Ddx52 UTSW 11 83,846,169 (GRCm39) missense probably damaging 1.00
R1641:Ddx52 UTSW 11 83,834,269 (GRCm39) critical splice donor site probably null
R1803:Ddx52 UTSW 11 83,836,958 (GRCm39) missense probably damaging 0.98
R1834:Ddx52 UTSW 11 83,850,323 (GRCm39) missense probably benign 0.03
R2037:Ddx52 UTSW 11 83,835,432 (GRCm39) missense probably benign
R4592:Ddx52 UTSW 11 83,848,306 (GRCm39) missense probably damaging 1.00
R4716:Ddx52 UTSW 11 83,846,031 (GRCm39) critical splice donor site probably null
R5807:Ddx52 UTSW 11 83,840,508 (GRCm39) missense probably benign 0.00
R5972:Ddx52 UTSW 11 83,844,051 (GRCm39) critical splice acceptor site probably null
R6132:Ddx52 UTSW 11 83,850,283 (GRCm39) missense possibly damaging 0.76
R6525:Ddx52 UTSW 11 83,844,145 (GRCm39) critical splice donor site probably null
R6747:Ddx52 UTSW 11 83,846,128 (GRCm39) missense probably damaging 1.00
R7250:Ddx52 UTSW 11 83,835,392 (GRCm39) missense probably benign
R7884:Ddx52 UTSW 11 83,842,911 (GRCm39) splice site probably null
R8277:Ddx52 UTSW 11 83,845,940 (GRCm39) missense probably damaging 1.00
R9315:Ddx52 UTSW 11 83,837,033 (GRCm39) missense probably benign 0.02
R9385:Ddx52 UTSW 11 83,843,096 (GRCm39) missense probably damaging 1.00
R9420:Ddx52 UTSW 11 83,833,008 (GRCm39) missense probably damaging 1.00
R9677:Ddx52 UTSW 11 83,836,946 (GRCm39) missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- GGGCCCCATCATTTGTACAG -3'
(R):5'- TAGATCTTCACTCACATGCAGC -3'

Sequencing Primer
(F):5'- CCATGAAATGTACTCAGTGTCTGTG -3'
(R):5'- CAGCATAACTGGAATGGCTTGCATC -3'
Posted On 2016-11-21