Incidental Mutation 'R6132:Ddx52'
ID 487191
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 044279-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R6132 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 83832888-83853914 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83850283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 555 (K555E)
Ref Sequence ENSEMBL: ENSMUSP00000048802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049257] [ENSMUST00000049714] [ENSMUST00000092834]
AlphaFold Q8K301
Predicted Effect possibly damaging
Transcript: ENSMUST00000049257
AA Change: K555E

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000048802
Gene: ENSMUSG00000020677
AA Change: K555E

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 probably benign
Transcript: ENSMUST00000049714
SMART Domains Protein: ENSMUSP00000059000
Gene: ENSMUSG00000034940

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
low complexity region 54 65 N/A INTRINSIC
coiled coil region 113 153 N/A INTRINSIC
Blast:EH 301 368 8e-6 BLAST
low complexity region 560 569 N/A INTRINSIC
low complexity region 644 662 N/A INTRINSIC
low complexity region 770 784 N/A INTRINSIC
low complexity region 1036 1050 N/A INTRINSIC
low complexity region 1295 1306 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092834
SMART Domains Protein: ENSMUSP00000090510
Gene: ENSMUSG00000034940

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
low complexity region 53 64 N/A INTRINSIC
coiled coil region 112 152 N/A INTRINSIC
Blast:EH 222 289 5e-6 BLAST
low complexity region 481 490 N/A INTRINSIC
low complexity region 565 583 N/A INTRINSIC
internal_repeat_1 617 755 7.57e-6 PROSPERO
internal_repeat_1 746 879 7.57e-6 PROSPERO
low complexity region 880 894 N/A INTRINSIC
low complexity region 1127 1138 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (49/51)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,960,643 (GRCm39) Y702H probably benign Het
Adgrv1 G T 13: 81,654,195 (GRCm39) N2225K probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh5 G T 11: 60,428,821 (GRCm39) probably benign Het
Atp5mc1 A G 11: 95,965,850 (GRCm39) M1T probably null Het
Crebrf C T 17: 26,982,377 (GRCm39) P588S probably benign Het
Ctsr A C 13: 61,309,582 (GRCm39) probably null Het
Cyp2c68 A G 19: 39,691,858 (GRCm39) V355A possibly damaging Het
Depdc5 T A 5: 33,067,811 (GRCm39) S410T probably damaging Het
Dhx30 A T 9: 109,914,847 (GRCm39) I884N probably damaging Het
Dlg1 A T 16: 31,655,059 (GRCm39) N518I possibly damaging Het
Dnah12 T A 14: 26,439,066 (GRCm39) I506N probably damaging Het
Efcab6 A G 15: 83,917,173 (GRCm39) L129P probably damaging Het
Erap1 A G 13: 74,808,401 (GRCm39) N38D probably benign Het
Esf1 A G 2: 140,001,699 (GRCm39) F383L probably benign Het
Exoc4 A G 6: 33,735,033 (GRCm39) E550G probably damaging Het
Fbxo44 G A 4: 148,240,565 (GRCm39) T221I probably benign Het
Gal3st2b A T 1: 93,867,688 (GRCm39) M112L possibly damaging Het
Golph3l C G 3: 95,499,145 (GRCm39) P96A probably benign Het
Gprc6a T A 10: 51,491,356 (GRCm39) I727F possibly damaging Het
Grin3b T C 10: 79,812,274 (GRCm39) L479P probably damaging Het
Kdm5a C T 6: 120,351,892 (GRCm39) H161Y probably damaging Het
Lman2 A G 13: 55,510,038 (GRCm39) S73P probably benign Het
Map3k19 T C 1: 127,778,213 (GRCm39) N4S possibly damaging Het
Mkln1 G A 6: 31,408,155 (GRCm39) V161M probably damaging Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Nrcam T A 12: 44,617,007 (GRCm39) Y668N probably damaging Het
Oacyl G T 18: 65,859,426 (GRCm39) G255W probably damaging Het
Omd A C 13: 49,743,843 (GRCm39) I298L probably damaging Het
Or5ac19 A G 16: 59,089,367 (GRCm39) V221A probably damaging Het
Or5ak24 A T 2: 85,260,490 (GRCm39) S228T probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otor A T 2: 142,920,520 (GRCm39) D34V probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pwwp2a A G 11: 43,596,455 (GRCm39) Y540C probably damaging Het
Rttn T A 18: 89,133,770 (GRCm39) probably null Het
S1pr4 G A 10: 81,335,030 (GRCm39) A148V probably benign Het
Scn10a C T 9: 119,442,761 (GRCm39) V1495M possibly damaging Het
Sel1l3 T C 5: 53,357,531 (GRCm39) K154E possibly damaging Het
Sema3a T G 5: 13,573,142 (GRCm39) probably null Het
Slf2 T A 19: 44,949,300 (GRCm39) N870K possibly damaging Het
Spmip6 C T 4: 41,517,160 (GRCm39) M1I probably null Het
Syne2 T C 12: 75,991,921 (GRCm39) V1962A probably benign Het
Tarbp1 T A 8: 127,161,548 (GRCm39) I1219F probably benign Het
Tet1 A C 10: 62,649,079 (GRCm39) C173W probably damaging Het
Tnn A G 1: 159,973,641 (GRCm39) F242S probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn2r106 T C 17: 20,488,666 (GRCm39) T578A probably benign Het
Zfp457 G T 13: 67,441,360 (GRCm39) S309* probably null 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
R5972:Ddx52 UTSW 11 83,844,051 (GRCm39) critical splice acceptor site probably null
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'- CCAGAATGTCTTTAATCACAGCC -3'
(R):5'- CTCCCAAATCAAAGGCATTCTGAG -3'

Sequencing Primer
(F):5'- AGTGCTGTCAGCTGATCT -3'
(R):5'- CCATACCCTATAGTGGATTACCTATG -3'
Posted On 2017-10-10