Incidental Mutation 'R5972:Ddx52'
ID 471479
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 044155-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R5972 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 83832888-83853914 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 83844051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000048802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049257]
AlphaFold Q8K301
Predicted Effect probably null
Transcript: ENSMUST00000049257
SMART Domains Protein: ENSMUSP00000048802
Gene: ENSMUSG00000020677

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T A 6: 58,649,070 (GRCm39) M305K probably benign Het
Accs G T 2: 93,669,572 (GRCm39) H283N probably damaging Het
Actl6b A T 5: 137,564,818 (GRCm39) H283L possibly damaging Het
Adgra1 T C 7: 139,425,583 (GRCm39) L32P probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Arfgef2 T C 2: 166,733,756 (GRCm39) I1672T probably damaging Het
Bambi T A 18: 3,512,354 (GRCm39) V246E probably damaging Het
BC048679 A G 7: 81,145,479 (GRCm39) L29P probably damaging Het
Bmal2 A G 6: 146,711,187 (GRCm39) M64V probably damaging Het
Camk4 T C 18: 33,240,979 (GRCm39) L92P probably damaging Het
Ddx11 C A 17: 66,455,085 (GRCm39) Q655K probably benign Het
Entrep3 T A 3: 89,093,115 (GRCm39) V213D probably damaging Het
Eps8l3 T C 3: 107,791,763 (GRCm39) probably null Het
Erap1 T A 13: 74,810,423 (GRCm39) probably null Het
Flg T A 3: 93,186,849 (GRCm39) N100K probably benign Het
Grip2 A T 6: 91,784,262 (GRCm39) V13E probably benign Het
Iars1 T C 13: 49,863,108 (GRCm39) V520A possibly damaging Het
Impa1 A G 3: 10,394,064 (GRCm39) M1T probably null Het
Ip6k3 T C 17: 27,368,934 (GRCm39) T179A possibly damaging Het
Krt87 T A 15: 101,385,467 (GRCm39) M302L probably benign Het
Lrp8 T C 4: 107,726,267 (GRCm39) Y899H probably damaging Het
Lrpprc A T 17: 85,020,250 (GRCm39) I1145N possibly damaging Het
Mapk11 A T 15: 89,028,387 (GRCm39) D324E probably benign Het
Melk C T 4: 44,351,007 (GRCm39) T516I probably benign Het
Mia2 C T 12: 59,193,723 (GRCm39) H130Y probably damaging Het
Mroh5 C T 15: 73,662,568 (GRCm39) probably null Het
Ncam1 T C 9: 49,418,829 (GRCm39) T824A possibly damaging Het
Neurog1 T C 13: 56,399,211 (GRCm39) S179G probably damaging Het
Ntrk2 T A 13: 58,985,633 (GRCm39) L79Q probably damaging Het
Patj T A 4: 98,457,290 (GRCm39) M46K probably damaging Het
Pdcd6ip T C 9: 113,491,366 (GRCm39) K626E probably benign Het
Pdss2 T A 10: 43,174,922 (GRCm39) Y143N probably damaging Het
Pkhd1l1 G A 15: 44,408,812 (GRCm39) S2433N probably damaging Het
Plekha5 A G 6: 140,518,639 (GRCm39) T309A possibly damaging Het
Prdm4 C T 10: 85,743,365 (GRCm39) V297M probably damaging Het
Rab15 T C 12: 76,847,377 (GRCm39) Y148C probably damaging Het
Ryr3 A T 2: 112,664,409 (GRCm39) N1627K probably damaging Het
Scn1a G T 2: 66,181,454 (GRCm39) A23E possibly damaging Het
Smtn A T 11: 3,483,486 (GRCm39) I30N probably damaging Het
Sympk A G 7: 18,780,749 (GRCm39) K751E probably benign Het
Usp24 C T 4: 106,225,264 (GRCm39) P632L probably damaging Het
Vmn2r106 A G 17: 20,498,738 (GRCm39) I391T probably benign Het
Vmn2r54 G A 7: 12,349,279 (GRCm39) P768S probably damaging Het
Vmn2r54 C T 7: 12,369,874 (GRCm39) C63Y probably damaging Het
Zfhx3 T G 8: 109,677,483 (GRCm39) C2844W possibly 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
R5774:Ddx52 UTSW 11 83,836,960 (GRCm39) missense probably damaging 1.00
R5807:Ddx52 UTSW 11 83,840,508 (GRCm39) missense probably benign 0.00
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'- GAGCCTGTACCAAAGCTCTG -3'
(R):5'- CCATGCACCGGATCACTAAG -3'

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