Incidental Mutation 'R8826:Ddx60'
ID 673457
Institutional Source Beutler Lab
Gene Symbol Ddx60
Ensembl Gene ENSMUSG00000037921
Gene Name DExD/H box helicase 60
Synonyms DEAD (Asp-Glu-Ala-Asp) box polypeptide 60
MMRRC Submission 068729-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R8826 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 62381121-62490735 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62398990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 236 (D236E)
Ref Sequence ENSEMBL: ENSMUSP00000091197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070631] [ENSMUST00000093485] [ENSMUST00000154398]
AlphaFold E9PZQ1
Predicted Effect probably benign
Transcript: ENSMUST00000070631
AA Change: D236E

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: D236E

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 probably benign
Transcript: ENSMUST00000093485
AA Change: D236E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: D236E

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 benign
Transcript: ENSMUST00000154398
AA Change: D236E

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000122841
Gene: ENSMUSG00000037921
AA Change: D236E

DomainStartEndE-ValueType
low complexity region 99 110 N/A INTRINSIC
low complexity region 364 376 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (91/91)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta1 T C 8: 124,619,978 (GRCm39) M121V probably damaging Het
AI987944 A T 7: 41,024,627 (GRCm39) H120Q possibly damaging Het
Aldh9a1 C G 1: 167,184,119 (GRCm39) P205A probably damaging Het
Ank2 A T 3: 126,740,951 (GRCm39) N1644K unknown Het
Arfgef2 A T 2: 166,677,386 (GRCm39) probably benign Het
Bpifb4 G T 2: 153,783,817 (GRCm39) V54L probably benign Het
Cacna1c T A 6: 118,711,836 (GRCm39) M456L Het
Cbln1 T C 8: 88,198,420 (GRCm39) N95S probably benign Het
Ccl11 G T 11: 81,953,044 (GRCm39) R67S possibly damaging Het
Cd200 G A 16: 45,215,157 (GRCm39) R165C probably benign Het
Cd2bp2 A T 7: 126,793,257 (GRCm39) M283K probably damaging Het
Cd86 G T 16: 36,435,650 (GRCm39) L256I possibly damaging Het
Ces2f T A 8: 105,679,734 (GRCm39) F409Y probably benign Het
Cisd3 A T 11: 97,579,158 (GRCm39) Q100L probably damaging Het
Cntnap1 C T 11: 101,077,655 (GRCm39) R1106C probably damaging Het
Col6a2 A T 10: 76,439,433 (GRCm39) M777K probably damaging Het
Cp A G 3: 20,039,739 (GRCm39) Y852C probably damaging Het
Ddx1 T C 12: 13,277,332 (GRCm39) E523G probably damaging Het
Dnah9 A T 11: 65,740,742 (GRCm39) F4148Y probably benign Het
Dusp6 G T 10: 99,099,469 (GRCm39) probably benign Het
Eif2a C A 3: 58,456,049 (GRCm39) Y349* probably null Het
Enpep G A 3: 129,065,067 (GRCm39) T874I probably damaging Het
Eps15 A G 4: 109,169,505 (GRCm39) D105G possibly damaging Het
Ess2 A T 16: 17,722,954 (GRCm39) M320K probably damaging Het
Exosc10 G A 4: 148,653,159 (GRCm39) probably null Het
Fam13b A T 18: 34,631,070 (GRCm39) N36K probably damaging Het
Fanca T C 8: 123,995,209 (GRCm39) D1431G probably benign Het
Fgg A G 3: 82,921,625 (GRCm39) D436G probably benign Het
Fip1l1 C T 5: 74,725,188 (GRCm39) T251I probably benign Het
Galnt2 A G 8: 125,032,347 (GRCm39) N104S probably damaging Het
Gmip T C 8: 70,268,748 (GRCm39) S458P possibly damaging Het
Herc2 A G 7: 55,756,144 (GRCm39) D728G probably benign Het
Hif3a A G 7: 16,788,671 (GRCm39) L100P probably damaging Het
Hmox2 C G 16: 4,583,866 (GRCm39) P282R possibly damaging Het
Hook1 A T 4: 95,880,432 (GRCm39) H90L probably benign Het
Igf2bp2 C A 16: 21,883,866 (GRCm39) G473C probably damaging Het
Ip6k2 T C 9: 108,675,379 (GRCm39) probably null Het
Ipo5 G T 14: 121,157,366 (GRCm39) R68L probably damaging Het
Kif19b A G 5: 140,455,434 (GRCm39) M347V probably damaging Het
Klhdc1 G T 12: 69,305,392 (GRCm39) W234L probably damaging Het
Krt8 A G 15: 101,909,870 (GRCm39) V178A possibly damaging Het
Lgi3 T A 14: 70,768,712 (GRCm39) probably null Het
Litaf T G 16: 10,784,421 (GRCm39) N30H probably benign Het
Lman2 C A 13: 55,510,368 (GRCm39) W12L unknown Het
Macf1 A G 4: 123,276,022 (GRCm39) L6182P probably damaging Het
Magi3 A T 3: 103,992,662 (GRCm39) M270K probably benign Het
Mapre2 A T 18: 23,886,888 (GRCm39) probably benign Het
Minar1 T A 9: 89,483,234 (GRCm39) E721V probably damaging Het
Mllt10 T A 2: 18,167,353 (GRCm39) V426D probably benign Het
Mrgprf A G 7: 144,862,046 (GRCm39) I203V probably benign Het
Mrnip G A 11: 50,067,688 (GRCm39) C27Y probably damaging Het
Mrpl24 C T 3: 87,829,701 (GRCm39) R96* probably null Het
Nbas T A 12: 13,402,875 (GRCm39) probably benign Het
Nipal4 G A 11: 46,045,470 (GRCm39) T131M possibly damaging Het
Nlrp12 T C 7: 3,289,621 (GRCm39) D297G possibly damaging Het
Nol6 A C 4: 41,121,823 (GRCm39) M237R probably benign Het
Olig1 A G 16: 91,067,027 (GRCm39) E88G probably benign Het
Or1j19 T A 2: 36,676,855 (GRCm39) L106* probably null Het
Parg A G 14: 31,931,175 (GRCm39) D265G possibly damaging Het
Pcdhgb8 A T 18: 37,895,301 (GRCm39) I124L probably damaging Het
Pign A G 1: 105,481,827 (GRCm39) F822L probably damaging Het
Plch2 T C 4: 155,071,140 (GRCm39) T1080A probably benign Het
Pld4 A T 12: 112,733,210 (GRCm39) Y262F possibly damaging Het
Ppp1r12b A G 1: 134,693,730 (GRCm39) V977A probably benign Het
Ppp6r3 C T 19: 3,521,984 (GRCm39) E565K Het
Psmg2 A G 18: 67,787,158 (GRCm39) probably benign Het
Ptcd3 C T 6: 71,885,645 (GRCm39) G27D probably benign Het
Retreg2 G T 1: 75,119,525 (GRCm39) G7C unknown Het
Rlbp1 A T 7: 79,027,114 (GRCm39) F182Y probably benign Het
Rnf148 G C 6: 23,654,378 (GRCm39) S206C probably benign Het
Sash1 A G 10: 8,637,869 (GRCm39) M1T probably null Het
Shank3 A T 15: 89,433,598 (GRCm39) T1448S probably damaging Het
Sipa1l1 A G 12: 82,389,207 (GRCm39) K478E probably damaging Het
Slitrk6 A G 14: 110,988,801 (GRCm39) I302T probably benign Het
Smc1b A G 15: 84,950,529 (GRCm39) V1165A probably damaging Het
Sncaip A T 18: 53,048,381 (GRCm39) H939L probably benign Het
Stn1 T C 19: 47,524,709 (GRCm39) D27G probably damaging Het
Sugct T G 13: 17,427,180 (GRCm39) probably null Het
Tmem259 A G 10: 79,814,983 (GRCm39) S214P probably damaging Het
Trdv4 G A 14: 54,312,946 (GRCm39) G107S probably damaging Het
Ttc3 C T 16: 94,232,829 (GRCm39) L957F possibly damaging Het
Ttn A G 2: 76,711,471 (GRCm39) Y8357H unknown Het
Twnk T C 19: 44,996,434 (GRCm39) V289A probably benign Het
Umodl1 A G 17: 31,202,958 (GRCm39) D437G possibly damaging Het
Upf1 T C 8: 70,790,930 (GRCm39) T590A probably benign Het
Vmn2r63 A T 7: 42,576,441 (GRCm39) D457E probably benign Het
Wdr82 A T 9: 106,061,975 (GRCm39) T213S probably benign Het
Zfp267 T C 3: 36,218,255 (GRCm39) Y93H possibly damaging Het
Zfp672 A T 11: 58,220,590 (GRCm39) M3K unknown Het
Zfyve26 A G 12: 79,285,742 (GRCm39) V2345A probably benign Het
Other mutations in Ddx60
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Ddx60 APN 8 62,411,680 (GRCm39) missense probably damaging 1.00
IGL00915:Ddx60 APN 8 62,440,465 (GRCm39) missense possibly damaging 0.79
IGL00931:Ddx60 APN 8 62,422,617 (GRCm39) missense probably benign 0.18
IGL01023:Ddx60 APN 8 62,395,548 (GRCm39) missense probably damaging 0.99
IGL01313:Ddx60 APN 8 62,435,560 (GRCm39) missense probably damaging 1.00
IGL01615:Ddx60 APN 8 62,416,774 (GRCm39) missense probably null 0.81
IGL01733:Ddx60 APN 8 62,436,899 (GRCm39) missense probably damaging 0.99
IGL01779:Ddx60 APN 8 62,470,857 (GRCm39) missense possibly damaging 0.94
IGL01900:Ddx60 APN 8 62,453,743 (GRCm39) splice site probably benign
IGL02110:Ddx60 APN 8 62,470,281 (GRCm39) critical splice donor site probably null
IGL02302:Ddx60 APN 8 62,428,866 (GRCm39) missense possibly damaging 0.85
IGL02468:Ddx60 APN 8 62,411,676 (GRCm39) missense probably damaging 1.00
IGL02569:Ddx60 APN 8 62,477,985 (GRCm39) missense possibly damaging 0.93
IGL02622:Ddx60 APN 8 62,395,470 (GRCm39) splice site probably null
IGL02657:Ddx60 APN 8 62,437,149 (GRCm39) missense probably benign 0.01
IGL02677:Ddx60 APN 8 62,441,166 (GRCm39) missense probably damaging 1.00
IGL02701:Ddx60 APN 8 62,432,375 (GRCm39) missense probably damaging 0.96
IGL02806:Ddx60 APN 8 62,409,156 (GRCm39) missense probably benign 0.00
IGL03137:Ddx60 APN 8 62,441,117 (GRCm39) missense possibly damaging 0.61
IGL03295:Ddx60 APN 8 62,409,155 (GRCm39) missense possibly damaging 0.82
IGL03387:Ddx60 APN 8 62,465,483 (GRCm39) missense probably damaging 1.00
IGL03411:Ddx60 APN 8 62,430,916 (GRCm39) critical splice acceptor site probably null
Scatter UTSW 8 62,474,348 (GRCm39) missense possibly damaging 0.80
shotgun UTSW 8 62,490,101 (GRCm39) missense probably benign 0.28
splay UTSW 8 62,474,343 (GRCm39) missense possibly damaging 0.80
G1Funyon:Ddx60 UTSW 8 62,453,631 (GRCm39) missense probably benign 0.01
PIT4504001:Ddx60 UTSW 8 62,411,147 (GRCm39) missense probably benign
PIT4677001:Ddx60 UTSW 8 62,425,288 (GRCm39) missense possibly damaging 0.87
R0090:Ddx60 UTSW 8 62,395,327 (GRCm39) missense probably damaging 1.00
R0266:Ddx60 UTSW 8 62,486,527 (GRCm39) missense possibly damaging 0.92
R0325:Ddx60 UTSW 8 62,436,889 (GRCm39) missense probably benign 0.00
R0367:Ddx60 UTSW 8 62,470,783 (GRCm39) missense possibly damaging 0.78
R0403:Ddx60 UTSW 8 62,447,575 (GRCm39) splice site probably benign
R0479:Ddx60 UTSW 8 62,422,691 (GRCm39) missense probably damaging 1.00
R0561:Ddx60 UTSW 8 62,470,828 (GRCm39) missense possibly damaging 0.93
R0844:Ddx60 UTSW 8 62,440,395 (GRCm39) missense probably benign 0.27
R1119:Ddx60 UTSW 8 62,395,578 (GRCm39) missense probably damaging 1.00
R1428:Ddx60 UTSW 8 62,411,193 (GRCm39) splice site probably benign
R1778:Ddx60 UTSW 8 62,427,210 (GRCm39) missense possibly damaging 0.85
R1840:Ddx60 UTSW 8 62,422,587 (GRCm39) missense probably damaging 0.99
R1964:Ddx60 UTSW 8 62,401,903 (GRCm39) missense probably benign 0.10
R1970:Ddx60 UTSW 8 62,425,240 (GRCm39) missense possibly damaging 0.93
R2101:Ddx60 UTSW 8 62,393,679 (GRCm39) missense probably damaging 1.00
R2174:Ddx60 UTSW 8 62,470,234 (GRCm39) missense probably benign 0.01
R2174:Ddx60 UTSW 8 62,409,175 (GRCm39) missense probably damaging 1.00
R2198:Ddx60 UTSW 8 62,411,097 (GRCm39) missense possibly damaging 0.79
R2332:Ddx60 UTSW 8 62,490,125 (GRCm39) missense probably benign 0.08
R2338:Ddx60 UTSW 8 62,465,470 (GRCm39) missense possibly damaging 0.91
R2379:Ddx60 UTSW 8 62,490,122 (GRCm39) missense probably damaging 1.00
R4010:Ddx60 UTSW 8 62,409,178 (GRCm39) missense probably benign 0.25
R4010:Ddx60 UTSW 8 62,407,569 (GRCm39) missense possibly damaging 0.65
R4133:Ddx60 UTSW 8 62,425,254 (GRCm39) missense probably damaging 0.99
R4282:Ddx60 UTSW 8 62,447,427 (GRCm39) missense probably damaging 0.99
R4382:Ddx60 UTSW 8 62,402,012 (GRCm39) splice site probably null
R4561:Ddx60 UTSW 8 62,395,495 (GRCm39) missense probably damaging 0.96
R4572:Ddx60 UTSW 8 62,440,455 (GRCm39) missense probably damaging 1.00
R4581:Ddx60 UTSW 8 62,476,295 (GRCm39) missense possibly damaging 0.90
R4635:Ddx60 UTSW 8 62,490,101 (GRCm39) missense probably benign 0.28
R4698:Ddx60 UTSW 8 62,465,458 (GRCm39) missense probably benign 0.01
R4807:Ddx60 UTSW 8 62,432,372 (GRCm39) missense probably damaging 1.00
R4858:Ddx60 UTSW 8 62,474,348 (GRCm39) missense possibly damaging 0.80
R4964:Ddx60 UTSW 8 62,432,372 (GRCm39) missense probably damaging 1.00
R5120:Ddx60 UTSW 8 62,398,940 (GRCm39) missense probably benign 0.01
R5187:Ddx60 UTSW 8 62,427,222 (GRCm39) missense probably damaging 1.00
R5222:Ddx60 UTSW 8 62,437,192 (GRCm39) missense probably damaging 0.99
R5400:Ddx60 UTSW 8 62,463,036 (GRCm39) missense possibly damaging 0.65
R5500:Ddx60 UTSW 8 62,403,485 (GRCm39) missense probably benign 0.28
R5514:Ddx60 UTSW 8 62,411,091 (GRCm39) missense probably damaging 1.00
R5668:Ddx60 UTSW 8 62,453,612 (GRCm39) missense probably benign 0.38
R5742:Ddx60 UTSW 8 62,401,955 (GRCm39) missense probably benign
R5772:Ddx60 UTSW 8 62,401,931 (GRCm39) missense probably damaging 1.00
R5810:Ddx60 UTSW 8 62,465,422 (GRCm39) nonsense probably null
R5815:Ddx60 UTSW 8 62,416,756 (GRCm39) missense probably damaging 0.98
R5820:Ddx60 UTSW 8 62,409,155 (GRCm39) missense possibly damaging 0.82
R5866:Ddx60 UTSW 8 62,393,774 (GRCm39) missense probably damaging 1.00
R5881:Ddx60 UTSW 8 62,490,104 (GRCm39) missense probably damaging 1.00
R5977:Ddx60 UTSW 8 62,474,444 (GRCm39) critical splice donor site probably null
R6048:Ddx60 UTSW 8 62,453,616 (GRCm39) missense probably benign 0.01
R6061:Ddx60 UTSW 8 62,476,275 (GRCm39) missense probably null 0.01
R6153:Ddx60 UTSW 8 62,398,974 (GRCm39) missense possibly damaging 0.47
R6287:Ddx60 UTSW 8 62,403,612 (GRCm39) missense probably damaging 1.00
R6415:Ddx60 UTSW 8 62,436,939 (GRCm39) missense probably benign 0.00
R6416:Ddx60 UTSW 8 62,451,715 (GRCm39) missense probably benign
R6416:Ddx60 UTSW 8 62,430,984 (GRCm39) missense probably benign 0.00
R6660:Ddx60 UTSW 8 62,409,273 (GRCm39) missense probably benign 0.00
R6694:Ddx60 UTSW 8 62,490,104 (GRCm39) missense probably damaging 1.00
R6715:Ddx60 UTSW 8 62,436,924 (GRCm39) missense probably benign 0.03
R6720:Ddx60 UTSW 8 62,453,723 (GRCm39) missense probably benign 0.10
R6937:Ddx60 UTSW 8 62,490,103 (GRCm39) missense probably damaging 1.00
R7153:Ddx60 UTSW 8 62,441,142 (GRCm39) missense possibly damaging 0.71
R7274:Ddx60 UTSW 8 62,393,142 (GRCm39) critical splice donor site probably null
R7409:Ddx60 UTSW 8 62,411,612 (GRCm39) missense probably benign 0.24
R7464:Ddx60 UTSW 8 62,393,708 (GRCm39) missense possibly damaging 0.82
R7670:Ddx60 UTSW 8 62,428,826 (GRCm39) missense probably damaging 1.00
R7904:Ddx60 UTSW 8 62,430,924 (GRCm39) missense possibly damaging 0.81
R7992:Ddx60 UTSW 8 62,407,569 (GRCm39) missense probably benign 0.03
R8124:Ddx60 UTSW 8 62,436,945 (GRCm39) missense probably benign
R8125:Ddx60 UTSW 8 62,436,945 (GRCm39) missense probably benign
R8126:Ddx60 UTSW 8 62,436,945 (GRCm39) missense probably benign
R8155:Ddx60 UTSW 8 62,470,205 (GRCm39) missense possibly damaging 0.61
R8174:Ddx60 UTSW 8 62,470,284 (GRCm39) splice site probably null
R8192:Ddx60 UTSW 8 62,431,002 (GRCm39) missense probably damaging 1.00
R8271:Ddx60 UTSW 8 62,393,142 (GRCm39) critical splice donor site probably null
R8301:Ddx60 UTSW 8 62,453,631 (GRCm39) missense probably benign 0.01
R8304:Ddx60 UTSW 8 62,451,803 (GRCm39) missense possibly damaging 0.67
R8319:Ddx60 UTSW 8 62,395,669 (GRCm39) critical splice donor site probably null
R8374:Ddx60 UTSW 8 62,427,205 (GRCm39) missense probably benign 0.01
R8401:Ddx60 UTSW 8 62,409,277 (GRCm39) missense possibly damaging 0.57
R8487:Ddx60 UTSW 8 62,427,184 (GRCm39) missense probably damaging 1.00
R8804:Ddx60 UTSW 8 62,411,640 (GRCm39) missense probably benign 0.27
R8829:Ddx60 UTSW 8 62,393,695 (GRCm39) missense probably damaging 1.00
R8881:Ddx60 UTSW 8 62,474,343 (GRCm39) missense possibly damaging 0.80
R8884:Ddx60 UTSW 8 62,447,553 (GRCm39) missense possibly damaging 0.86
R8990:Ddx60 UTSW 8 62,427,168 (GRCm39) nonsense probably null
R9122:Ddx60 UTSW 8 62,442,898 (GRCm39) missense probably benign 0.16
R9225:Ddx60 UTSW 8 62,470,875 (GRCm39) missense probably benign 0.36
R9278:Ddx60 UTSW 8 62,431,012 (GRCm39) missense possibly damaging 0.83
R9293:Ddx60 UTSW 8 62,462,994 (GRCm39) missense possibly damaging 0.89
R9405:Ddx60 UTSW 8 62,425,248 (GRCm39) missense probably benign 0.03
R9766:Ddx60 UTSW 8 62,465,312 (GRCm39) missense probably damaging 1.00
X0003:Ddx60 UTSW 8 62,486,451 (GRCm39) missense possibly damaging 0.88
X0019:Ddx60 UTSW 8 62,416,726 (GRCm39) missense probably benign 0.01
Z1177:Ddx60 UTSW 8 62,453,622 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- ATTGAGAACTGCTTTGTAACGTGAG -3'
(R):5'- AAACCCTGGAAGATGGCTG -3'

Sequencing Primer
(F):5'- ACGTGAGTTTACCTTAAATTTCTGAG -3'
(R):5'- CCTGGAAGATGGCTGGTCTCAAG -3'
Posted On 2021-07-15