Incidental Mutation 'R5514:Ddx60'
ID 440237
Institutional Source Beutler Lab
Gene Symbol Ddx60
Ensembl Gene ENSMUSG00000037921
Gene Name DEAD (Asp-Glu-Ala-Asp) box polypeptide 60
Synonyms
MMRRC Submission 043074-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R5514 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 61928087-62038244 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61958057 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 451 (E451V)
Ref Sequence ENSEMBL: ENSMUSP00000122841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070631] [ENSMUST00000093485] [ENSMUST00000154398]
AlphaFold E9PZQ1
Predicted Effect probably damaging
Transcript: ENSMUST00000070631
AA Change: E451V

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: E451V

DomainStartEndE-ValueType
low complexity region 99 110 N/A INTRINSIC
low complexity region 364 376 N/A INTRINSIC
DEXDc 758 949 1.05e-15 SMART
Blast:DEXDc 1007 1132 4e-24 BLAST
HELICc 1245 1328 4.35e-13 SMART
low complexity region 1362 1373 N/A INTRINSIC
Blast:DEXDc 1503 1584 1e-20 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000093485
AA Change: E451V

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: E451V

DomainStartEndE-ValueType
low complexity region 99 110 N/A INTRINSIC
low complexity region 364 376 N/A INTRINSIC
DEXDc 759 950 1.05e-15 SMART
Blast:DEXDc 1008 1133 4e-24 BLAST
HELICc 1246 1329 4.35e-13 SMART
low complexity region 1363 1374 N/A INTRINSIC
Blast:DEXDc 1504 1585 1e-20 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000154398
AA Change: E451V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122841
Gene: ENSMUSG00000037921
AA Change: E451V

DomainStartEndE-ValueType
low complexity region 99 110 N/A INTRINSIC
low complexity region 364 376 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal immunity to several viruses (IAV, EMCV, SINV) but increased susceptibility to VSV infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 T C 12: 21,340,519 (GRCm38) S382G probably damaging Het
Agr2 G A 12: 35,996,091 (GRCm38) V74I probably benign Het
Aldh3a1 T C 11: 61,218,041 (GRCm38) S423P probably damaging Het
Ampd1 C T 3: 103,079,172 (GRCm38) H56Y possibly damaging Het
Arhgef2 C A 3: 88,642,997 (GRCm38) P670T probably benign Het
Blk T G 14: 63,378,481 (GRCm38) D333A probably damaging Het
Bmi1 T C 2: 18,681,903 (GRCm38) I31T probably damaging Het
Cacna1d G A 14: 30,350,833 (GRCm38) Q62* probably null Het
Ccdc88c A G 12: 100,913,439 (GRCm38) S1801P probably damaging Het
Cdkal1 C T 13: 29,777,287 (GRCm38) A100T probably damaging Het
Cfap251 G T 5: 123,287,766 (GRCm38) probably null Het
Chst4 G T 8: 110,029,974 (GRCm38) S419Y probably damaging Het
Cntn4 T C 6: 106,672,883 (GRCm38) I680T probably damaging Het
Ddx55 T C 5: 124,556,812 (GRCm38) V101A probably damaging Het
Dffa T A 4: 149,106,315 (GRCm38) probably null Het
Dgkd A G 1: 87,934,110 (GRCm38) R796G probably damaging Het
Dzank1 T A 2: 144,481,685 (GRCm38) M614L probably benign Het
Elf2 G T 3: 51,308,134 (GRCm38) Q52K probably damaging Het
Fcamr T A 1: 130,814,056 (GRCm38) L522Q probably damaging Het
Fscn2 T C 11: 120,368,032 (GRCm38) Y468H probably damaging Het
Gm12689 T C 4: 99,296,165 (GRCm38) I85T unknown Het
Gm4787 A G 12: 81,378,328 (GRCm38) V352A possibly damaging Het
Gtsf1 T C 15: 103,428,375 (GRCm38) Q13R probably benign Het
Itpkb G A 1: 180,413,909 (GRCm38) V715M probably damaging Het
Jmjd1c T A 10: 67,218,149 (GRCm38) S263T probably damaging Het
Krba1 T G 6: 48,413,495 (GRCm38) L736R probably damaging Het
Lrrc8d C G 5: 105,812,784 (GRCm38) F353L probably damaging Het
Lrrc8d G A 5: 105,812,785 (GRCm38) E354K probably benign Het
Mtor T A 4: 148,546,444 (GRCm38) V2286E probably damaging Het
Mybbp1a T A 11: 72,450,636 (GRCm38) V1100E possibly damaging Het
Myo5a G A 9: 75,153,766 (GRCm38) G518D probably damaging Het
Nalcn A T 14: 123,283,711 (GRCm38) I1594N probably benign Het
Nav1 C G 1: 135,470,561 (GRCm38) G761A probably benign Het
Ncoa2 A T 1: 13,181,221 (GRCm38) L276H probably damaging Het
Ndufaf7 T C 17: 78,937,622 (GRCm38) Y57H probably damaging Het
Nfkb2 A G 19: 46,311,408 (GRCm38) Y807C probably damaging Het
Nid2 A T 14: 19,802,467 (GRCm38) Q1081L probably damaging Het
Nkain2 T A 10: 31,951,193 (GRCm38) I134F probably damaging Het
Nmu A C 5: 76,350,132 (GRCm38) S69A probably damaging Het
Or4c15b A T 2: 89,282,473 (GRCm38) I220N probably damaging Het
Or5t7 T C 2: 86,676,881 (GRCm38) I151V probably benign Het
Pard3 A G 8: 127,426,605 (GRCm38) R886G probably damaging Het
Pde6b G T 5: 108,423,451 (GRCm38) Q423H probably benign Het
Pip5k1b A T 19: 24,350,141 (GRCm38) D450E probably damaging Het
Plcg1 T C 2: 160,753,355 (GRCm38) probably null Het
Pnpt1 T C 11: 29,153,246 (GRCm38) S504P possibly damaging Het
Pomt2 A T 12: 87,129,023 (GRCm38) D312E probably damaging Het
Ppp1r1b T C 11: 98,355,402 (GRCm38) L70P probably damaging Het
Prr5 C A 15: 84,702,895 (GRCm38) P282Q probably benign Het
Reln A T 5: 21,971,885 (GRCm38) W1928R possibly damaging Het
Sacm1l A T 9: 123,586,354 (GRCm38) R465* probably null Het
Sema7a A G 9: 57,955,763 (GRCm38) Y239C probably damaging Het
Slc35e2 C T 4: 155,610,026 (GRCm38) P10L probably benign Het
Svep1 T C 4: 58,044,054 (GRCm38) T3531A possibly damaging Het
Tjp1 A T 7: 65,354,861 (GRCm38) W19R probably damaging Het
Tmc2 T A 2: 130,241,644 (GRCm38) M507K possibly damaging Het
Unc13a A G 8: 71,643,151 (GRCm38) Y1241H probably damaging Het
Upp1 C T 11: 9,131,771 (GRCm38) P103S probably damaging Het
Vldlr A G 19: 27,244,224 (GRCm38) E663G probably damaging Het
Vmn2r68 G A 7: 85,237,559 (GRCm38) T49I possibly damaging Het
Xirp2 A T 2: 67,505,121 (GRCm38) M95L probably benign Het
Other mutations in Ddx60
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Ddx60 APN 8 61,958,646 (GRCm38) missense probably damaging 1.00
IGL00915:Ddx60 APN 8 61,987,431 (GRCm38) missense possibly damaging 0.79
IGL00931:Ddx60 APN 8 61,969,583 (GRCm38) missense probably benign 0.18
IGL01023:Ddx60 APN 8 61,942,514 (GRCm38) missense probably damaging 0.99
IGL01313:Ddx60 APN 8 61,982,526 (GRCm38) missense probably damaging 1.00
IGL01615:Ddx60 APN 8 61,963,740 (GRCm38) missense probably null 0.81
IGL01733:Ddx60 APN 8 61,983,865 (GRCm38) missense probably damaging 0.99
IGL01779:Ddx60 APN 8 62,017,823 (GRCm38) missense possibly damaging 0.94
IGL01900:Ddx60 APN 8 62,000,709 (GRCm38) splice site probably benign
IGL02110:Ddx60 APN 8 62,017,247 (GRCm38) critical splice donor site probably null
IGL02302:Ddx60 APN 8 61,975,832 (GRCm38) missense possibly damaging 0.85
IGL02468:Ddx60 APN 8 61,958,642 (GRCm38) missense probably damaging 1.00
IGL02569:Ddx60 APN 8 62,024,951 (GRCm38) missense possibly damaging 0.93
IGL02622:Ddx60 APN 8 61,942,436 (GRCm38) splice site probably null
IGL02657:Ddx60 APN 8 61,984,115 (GRCm38) missense probably benign 0.01
IGL02677:Ddx60 APN 8 61,988,132 (GRCm38) missense probably damaging 1.00
IGL02701:Ddx60 APN 8 61,979,341 (GRCm38) missense probably damaging 0.96
IGL02806:Ddx60 APN 8 61,956,122 (GRCm38) missense probably benign 0.00
IGL03137:Ddx60 APN 8 61,988,083 (GRCm38) missense possibly damaging 0.61
IGL03295:Ddx60 APN 8 61,956,121 (GRCm38) missense possibly damaging 0.82
IGL03387:Ddx60 APN 8 62,012,449 (GRCm38) missense probably damaging 1.00
IGL03411:Ddx60 APN 8 61,977,882 (GRCm38) critical splice acceptor site probably null
Scatter UTSW 8 62,021,314 (GRCm38) missense possibly damaging 0.80
shotgun UTSW 8 62,037,067 (GRCm38) missense probably benign 0.28
splay UTSW 8 62,021,309 (GRCm38) missense possibly damaging 0.80
G1Funyon:Ddx60 UTSW 8 62,000,597 (GRCm38) missense probably benign 0.01
PIT4504001:Ddx60 UTSW 8 61,958,113 (GRCm38) missense probably benign
PIT4677001:Ddx60 UTSW 8 61,972,254 (GRCm38) missense possibly damaging 0.87
R0090:Ddx60 UTSW 8 61,942,293 (GRCm38) missense probably damaging 1.00
R0266:Ddx60 UTSW 8 62,033,493 (GRCm38) missense possibly damaging 0.92
R0325:Ddx60 UTSW 8 61,983,855 (GRCm38) missense probably benign 0.00
R0367:Ddx60 UTSW 8 62,017,749 (GRCm38) missense possibly damaging 0.78
R0403:Ddx60 UTSW 8 61,994,541 (GRCm38) splice site probably benign
R0479:Ddx60 UTSW 8 61,969,657 (GRCm38) missense probably damaging 1.00
R0561:Ddx60 UTSW 8 62,017,794 (GRCm38) missense possibly damaging 0.93
R0844:Ddx60 UTSW 8 61,987,361 (GRCm38) missense probably benign 0.27
R1119:Ddx60 UTSW 8 61,942,544 (GRCm38) missense probably damaging 1.00
R1428:Ddx60 UTSW 8 61,958,159 (GRCm38) splice site probably benign
R1778:Ddx60 UTSW 8 61,974,176 (GRCm38) missense possibly damaging 0.85
R1840:Ddx60 UTSW 8 61,969,553 (GRCm38) missense probably damaging 0.99
R1964:Ddx60 UTSW 8 61,948,869 (GRCm38) missense probably benign 0.10
R1970:Ddx60 UTSW 8 61,972,206 (GRCm38) missense possibly damaging 0.93
R2101:Ddx60 UTSW 8 61,940,645 (GRCm38) missense probably damaging 1.00
R2174:Ddx60 UTSW 8 62,017,200 (GRCm38) missense probably benign 0.01
R2174:Ddx60 UTSW 8 61,956,141 (GRCm38) missense probably damaging 1.00
R2198:Ddx60 UTSW 8 61,958,063 (GRCm38) missense possibly damaging 0.79
R2332:Ddx60 UTSW 8 62,037,091 (GRCm38) missense probably benign 0.08
R2338:Ddx60 UTSW 8 62,012,436 (GRCm38) missense possibly damaging 0.91
R2379:Ddx60 UTSW 8 62,037,088 (GRCm38) missense probably damaging 1.00
R4010:Ddx60 UTSW 8 61,956,144 (GRCm38) missense probably benign 0.25
R4010:Ddx60 UTSW 8 61,954,535 (GRCm38) missense possibly damaging 0.65
R4133:Ddx60 UTSW 8 61,972,220 (GRCm38) missense probably damaging 0.99
R4282:Ddx60 UTSW 8 61,994,393 (GRCm38) missense probably damaging 0.99
R4382:Ddx60 UTSW 8 61,948,978 (GRCm38) splice site probably null
R4561:Ddx60 UTSW 8 61,942,461 (GRCm38) missense probably damaging 0.96
R4572:Ddx60 UTSW 8 61,987,421 (GRCm38) missense probably damaging 1.00
R4581:Ddx60 UTSW 8 62,023,261 (GRCm38) missense possibly damaging 0.90
R4635:Ddx60 UTSW 8 62,037,067 (GRCm38) missense probably benign 0.28
R4698:Ddx60 UTSW 8 62,012,424 (GRCm38) missense probably benign 0.01
R4807:Ddx60 UTSW 8 61,979,338 (GRCm38) missense probably damaging 1.00
R4858:Ddx60 UTSW 8 62,021,314 (GRCm38) missense possibly damaging 0.80
R4964:Ddx60 UTSW 8 61,979,338 (GRCm38) missense probably damaging 1.00
R5120:Ddx60 UTSW 8 61,945,906 (GRCm38) missense probably benign 0.01
R5187:Ddx60 UTSW 8 61,974,188 (GRCm38) missense probably damaging 1.00
R5222:Ddx60 UTSW 8 61,984,158 (GRCm38) missense probably damaging 0.99
R5400:Ddx60 UTSW 8 62,010,002 (GRCm38) missense possibly damaging 0.65
R5500:Ddx60 UTSW 8 61,950,451 (GRCm38) missense probably benign 0.28
R5668:Ddx60 UTSW 8 62,000,578 (GRCm38) missense probably benign 0.38
R5742:Ddx60 UTSW 8 61,948,921 (GRCm38) missense probably benign
R5772:Ddx60 UTSW 8 61,948,897 (GRCm38) missense probably damaging 1.00
R5810:Ddx60 UTSW 8 62,012,388 (GRCm38) nonsense probably null
R5815:Ddx60 UTSW 8 61,963,722 (GRCm38) missense probably damaging 0.98
R5820:Ddx60 UTSW 8 61,956,121 (GRCm38) missense possibly damaging 0.82
R5866:Ddx60 UTSW 8 61,940,740 (GRCm38) missense probably damaging 1.00
R5881:Ddx60 UTSW 8 62,037,070 (GRCm38) missense probably damaging 1.00
R5977:Ddx60 UTSW 8 62,021,410 (GRCm38) critical splice donor site probably null
R6048:Ddx60 UTSW 8 62,000,582 (GRCm38) missense probably benign 0.01
R6061:Ddx60 UTSW 8 62,023,241 (GRCm38) missense probably null 0.01
R6153:Ddx60 UTSW 8 61,945,940 (GRCm38) missense possibly damaging 0.47
R6287:Ddx60 UTSW 8 61,950,578 (GRCm38) missense probably damaging 1.00
R6415:Ddx60 UTSW 8 61,983,905 (GRCm38) missense probably benign 0.00
R6416:Ddx60 UTSW 8 61,998,681 (GRCm38) missense probably benign
R6416:Ddx60 UTSW 8 61,977,950 (GRCm38) missense probably benign 0.00
R6660:Ddx60 UTSW 8 61,956,239 (GRCm38) missense probably benign 0.00
R6694:Ddx60 UTSW 8 62,037,070 (GRCm38) missense probably damaging 1.00
R6715:Ddx60 UTSW 8 61,983,890 (GRCm38) missense probably benign 0.03
R6720:Ddx60 UTSW 8 62,000,689 (GRCm38) missense probably benign 0.10
R6937:Ddx60 UTSW 8 62,037,069 (GRCm38) missense probably damaging 1.00
R7153:Ddx60 UTSW 8 61,988,108 (GRCm38) missense possibly damaging 0.71
R7274:Ddx60 UTSW 8 61,940,108 (GRCm38) critical splice donor site probably null
R7409:Ddx60 UTSW 8 61,958,578 (GRCm38) missense probably benign 0.24
R7464:Ddx60 UTSW 8 61,940,674 (GRCm38) missense possibly damaging 0.82
R7670:Ddx60 UTSW 8 61,975,792 (GRCm38) missense probably damaging 1.00
R7904:Ddx60 UTSW 8 61,977,890 (GRCm38) missense possibly damaging 0.81
R7992:Ddx60 UTSW 8 61,954,535 (GRCm38) missense probably benign 0.03
R8124:Ddx60 UTSW 8 61,983,911 (GRCm38) missense probably benign
R8125:Ddx60 UTSW 8 61,983,911 (GRCm38) missense probably benign
R8126:Ddx60 UTSW 8 61,983,911 (GRCm38) missense probably benign
R8155:Ddx60 UTSW 8 62,017,171 (GRCm38) missense possibly damaging 0.61
R8174:Ddx60 UTSW 8 62,017,250 (GRCm38) splice site probably null
R8192:Ddx60 UTSW 8 61,977,968 (GRCm38) missense probably damaging 1.00
R8271:Ddx60 UTSW 8 61,940,108 (GRCm38) critical splice donor site probably null
R8301:Ddx60 UTSW 8 62,000,597 (GRCm38) missense probably benign 0.01
R8304:Ddx60 UTSW 8 61,998,769 (GRCm38) missense possibly damaging 0.67
R8319:Ddx60 UTSW 8 61,942,635 (GRCm38) critical splice donor site probably null
R8374:Ddx60 UTSW 8 61,974,171 (GRCm38) missense probably benign 0.01
R8401:Ddx60 UTSW 8 61,956,243 (GRCm38) missense possibly damaging 0.57
R8487:Ddx60 UTSW 8 61,974,150 (GRCm38) missense probably damaging 1.00
R8804:Ddx60 UTSW 8 61,958,606 (GRCm38) missense probably benign 0.27
R8826:Ddx60 UTSW 8 61,945,956 (GRCm38) missense probably benign 0.02
R8829:Ddx60 UTSW 8 61,940,661 (GRCm38) missense probably damaging 1.00
R8881:Ddx60 UTSW 8 62,021,309 (GRCm38) missense possibly damaging 0.80
R8884:Ddx60 UTSW 8 61,994,519 (GRCm38) missense possibly damaging 0.86
R8990:Ddx60 UTSW 8 61,974,134 (GRCm38) nonsense probably null
R9122:Ddx60 UTSW 8 61,989,864 (GRCm38) missense probably benign 0.16
R9225:Ddx60 UTSW 8 62,017,841 (GRCm38) missense probably benign 0.36
R9278:Ddx60 UTSW 8 61,977,978 (GRCm38) missense possibly damaging 0.83
R9293:Ddx60 UTSW 8 62,009,960 (GRCm38) missense possibly damaging 0.89
R9405:Ddx60 UTSW 8 61,972,214 (GRCm38) missense probably benign 0.03
R9766:Ddx60 UTSW 8 62,012,278 (GRCm38) missense probably damaging 1.00
X0003:Ddx60 UTSW 8 62,033,417 (GRCm38) missense possibly damaging 0.88
X0019:Ddx60 UTSW 8 61,963,692 (GRCm38) missense probably benign 0.01
Z1177:Ddx60 UTSW 8 62,000,588 (GRCm38) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GTTCCAAAAGACTCAATGTGGG -3'
(R):5'- GTCTTCAACACTCAAACATTGCTTG -3'

Sequencing Primer
(F):5'- CAATGTGGGAAATAGTTTTATGTGC -3'
(R):5'- GATGTCATAAAGAAGGTCAACAGAC -3'
Posted On 2016-11-08