Incidental Mutation 'R7409:Ddx60'
ID 574928
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 045490-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R7409 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 62381121-62490735 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 62411612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 488 (T488K)
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: T488K

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000070741
Gene: ENSMUSG00000037921
AA Change: T488K

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: T488K

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000091197
Gene: ENSMUSG00000037921
AA Change: T488K

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: T488K

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122841
Gene: ENSMUSG00000037921
AA Change: T488K

DomainStartEndE-ValueType
low complexity region 99 110 N/A INTRINSIC
low complexity region 364 376 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (82/84)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C T 4: 129,912,862 (GRCm39) A1329V probably benign Het
Aida A G 1: 183,099,809 (GRCm39) T215A probably benign Het
Alpk2 A G 18: 65,440,023 (GRCm39) S457P probably benign Het
Ap4b1 G A 3: 103,719,474 (GRCm39) V63I probably damaging Het
Apaf1 A G 10: 90,903,108 (GRCm39) V182A probably damaging Het
B4galnt4 G A 7: 140,646,916 (GRCm39) probably null Het
Bltp2 G T 11: 78,159,583 (GRCm39) R544L probably damaging Het
Cacna1a T G 8: 85,260,031 (GRCm39) D331E probably damaging Het
Carmil2 A G 8: 106,419,423 (GRCm39) probably null Het
Cdkn1b A T 6: 134,898,280 (GRCm39) Q133L probably benign Het
Cep192 G C 18: 67,967,874 (GRCm39) S786T possibly damaging Het
Cfap418 T A 4: 10,881,834 (GRCm39) C94S probably benign Het
Cfap97 G A 8: 46,645,733 (GRCm39) R537H probably benign Het
Clpx C G 9: 65,231,529 (GRCm39) A552G possibly damaging Het
Cryl1 G A 14: 57,523,842 (GRCm39) T240I probably damaging Het
Dennd4b A G 3: 90,181,259 (GRCm39) H805R probably benign Het
Dnmbp T C 19: 43,878,996 (GRCm39) D25G unknown Het
Dysf A C 6: 84,126,664 (GRCm39) D1293A probably benign Het
Efl1 T C 7: 82,347,121 (GRCm39) L549P probably damaging Het
Eif5 T C 12: 111,506,697 (GRCm39) probably benign Het
Eva1c A G 16: 90,666,544 (GRCm39) K156E probably damaging Het
Fbxw10 T G 11: 62,767,606 (GRCm39) V814G possibly damaging Het
Gfap C T 11: 102,785,358 (GRCm39) R206Q probably benign Het
Gjb6 A T 14: 57,361,610 (GRCm39) L217* probably null Het
Gpatch11 T A 17: 79,146,595 (GRCm39) L80Q probably damaging Het
Gramd1b T C 9: 40,238,727 (GRCm39) Q225R probably damaging Het
Gsdmc2 A G 15: 63,705,195 (GRCm39) S173P possibly damaging Het
Hars1 C G 18: 36,903,166 (GRCm39) R388P probably damaging Het
Ighm C T 12: 113,385,852 (GRCm39) R129H Het
Igsf9 A G 1: 172,322,841 (GRCm39) I602V probably benign Het
Inpp4b T G 8: 82,679,314 (GRCm39) probably null Het
Itch C A 2: 155,041,302 (GRCm39) T450K probably damaging Het
Kcnq1 T C 7: 142,663,152 (GRCm39) F20L unknown Het
Kmt2d G T 15: 98,753,235 (GRCm39) A153E probably damaging Het
Macf1 T A 4: 123,398,263 (GRCm39) N750I probably damaging Het
Marveld2 T A 13: 100,747,984 (GRCm39) H365L probably damaging Het
Med13l T A 5: 118,892,386 (GRCm39) D1936E probably benign Het
Mettl8 A T 2: 70,803,687 (GRCm39) V200E probably damaging Het
Mrgbp T G 2: 180,227,135 (GRCm39) S157A possibly damaging Het
Mrps35 A G 6: 146,957,481 (GRCm39) T169A possibly damaging Het
Mycbp2 A T 14: 103,526,180 (GRCm39) Y551N probably damaging Het
Myo18b T C 5: 113,021,971 (GRCm39) R474G probably benign Het
Nfx1 T A 4: 41,021,830 (GRCm39) S979R possibly damaging Het
Nlrp1a T C 11: 71,013,634 (GRCm39) T539A probably benign Het
Oca2 T A 7: 56,064,145 (GRCm39) D713E probably benign Het
Omt2b A C 9: 78,235,894 (GRCm39) Y73S probably benign Het
Or10aa1 T A 1: 173,870,099 (GRCm39) H194Q probably benign Het
Or13a27 C T 7: 139,925,318 (GRCm39) V195I probably benign Het
Or6c38 A G 10: 128,929,081 (GRCm39) I254T probably damaging Het
Or6c69 A T 10: 129,748,120 (GRCm39) V9D possibly damaging Het
Pde11a G T 2: 75,836,328 (GRCm39) Q20K Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Phrf1 C A 7: 140,839,205 (GRCm39) T800K unknown Het
Polr1f T G 12: 33,486,988 (GRCm39) C150W possibly damaging Het
Pramel4 T C 4: 143,795,061 (GRCm39) S486P probably benign Het
Proc T C 18: 32,260,513 (GRCm39) D204G probably benign Het
Rasgrp3 T A 17: 75,823,411 (GRCm39) I494N possibly damaging Het
Samm50 A G 15: 84,081,231 (GRCm39) D53G probably benign Het
Satb1 T C 17: 52,116,217 (GRCm39) D22G possibly damaging Het
Scarf2 T C 16: 17,624,918 (GRCm39) S658P probably damaging Het
Sfta2 T A 17: 35,925,410 (GRCm39) I29K unknown Het
Slc15a4 A T 5: 127,681,742 (GRCm39) S292T probably benign Het
Slc37a1 C T 17: 31,559,237 (GRCm39) T439I probably damaging Het
Slc4a9 C A 18: 36,663,858 (GRCm39) P294Q probably damaging Het
Slc52a3 T C 2: 151,846,086 (GRCm39) S16P probably damaging Het
Slc6a15 A G 10: 103,244,163 (GRCm39) I468V probably benign Het
Spag17 T C 3: 99,934,547 (GRCm39) S610P possibly damaging Het
Spag17 A T 3: 99,941,475 (GRCm39) D738V probably benign Het
Ssbp4 T C 8: 71,050,617 (GRCm39) R269G unknown Het
Tbl1xr1 A G 3: 22,257,354 (GRCm39) T406A possibly damaging Het
Tep1 A T 14: 51,104,312 (GRCm39) V194D possibly damaging Het
Thbs4 A T 13: 92,909,767 (GRCm39) C343* probably null Het
Tmed10 A T 12: 85,391,065 (GRCm39) S158T possibly damaging Het
Trbv3 T A 6: 41,025,524 (GRCm39) V38E probably damaging Het
Ttc6 T C 12: 57,743,772 (GRCm39) M1258T probably damaging Het
Ttn T C 2: 76,589,320 (GRCm39) D21281G probably damaging Het
Usp54 T C 14: 20,602,313 (GRCm39) R1346G probably damaging Het
Vmn2r8 C A 5: 108,956,449 (GRCm39) E58* probably null Het
Vps13d C T 4: 144,867,824 (GRCm39) E2009K Het
Vps33b T C 7: 79,935,017 (GRCm39) I320T probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Ythdf1 T C 2: 180,553,786 (GRCm39) Y143C probably damaging Het
Zfp213 C T 17: 23,778,603 (GRCm39) probably null Het
Zfp219 A T 14: 52,244,570 (GRCm39) Y536* probably null 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
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
R8826:Ddx60 UTSW 8 62,398,990 (GRCm39) missense probably benign 0.02
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'- GGAGGTCCTGGTTTCTGAAAC -3'
(R):5'- CGTGTCACACATCTGAATGCC -3'

Sequencing Primer
(F):5'- CTTGTATCCCAGGAAGAAG -3'
(R):5'- GTCACACATCTGAATGCCTTAATGAC -3'
Posted On 2019-10-07