Incidental Mutation 'R2472:L1td1'
ID 476557
Institutional Source Beutler Lab
Gene Symbol L1td1
Ensembl Gene ENSMUSG00000087166
Gene Name LINE-1 type transposase domain containing 1
Synonyms ECAT11
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R2472 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 98614991-98626723 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 98621396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000152889] [ENSMUST00000154279] [ENSMUST00000171708] [ENSMUST00000173659]
AlphaFold Q587J6
Predicted Effect probably benign
Transcript: ENSMUST00000152889
Predicted Effect probably benign
Transcript: ENSMUST00000154279
SMART Domains Protein: ENSMUSP00000127504
Gene: ENSMUSG00000087166

DomainStartEndE-ValueType
Pfam:Transposase_22 175 295 4e-21 PFAM
low complexity region 346 397 N/A INTRINSIC
low complexity region 402 413 N/A INTRINSIC
Pfam:Transposase_22 495 782 2.2e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171708
Predicted Effect probably benign
Transcript: ENSMUST00000173659
SMART Domains Protein: ENSMUSP00000134149
Gene: ENSMUSG00000087166

DomainStartEndE-ValueType
Pfam:Transposase_22 175 291 6e-20 PFAM
coiled coil region 383 431 N/A INTRINSIC
low complexity region 468 479 N/A INTRINSIC
Pfam:Transposase_22 568 848 4.3e-57 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal development and fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,583,316 (GRCm39) S291P probably damaging Het
Cbln3 T C 14: 56,121,538 (GRCm39) E36G possibly damaging Het
Cdcp1 A G 9: 123,014,172 (GRCm39) F201L probably benign Het
Crispld1 A T 1: 17,816,052 (GRCm39) R142S probably null Het
Dsc2 T A 18: 20,178,526 (GRCm39) M293L probably benign Het
Dzip3 A T 16: 48,774,150 (GRCm39) S362T possibly damaging Het
Grm4 C T 17: 27,653,649 (GRCm39) C512Y probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Nav2 A G 7: 49,058,632 (GRCm39) T252A probably benign Het
Neu3 A C 7: 99,462,614 (GRCm39) S370A probably damaging Het
Nfasc T A 1: 132,515,959 (GRCm39) probably benign Het
Or2o1 T C 11: 49,051,198 (GRCm39) V119A possibly damaging Het
Ptk7 T C 17: 46,887,774 (GRCm39) T553A probably benign Het
Rap2a T C 14: 120,716,245 (GRCm39) I36T possibly damaging Het
Rinl A C 7: 28,489,803 (GRCm39) D7A possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sec16a T C 2: 26,329,948 (GRCm39) E689G probably damaging Het
Sec31a T C 5: 100,533,064 (GRCm39) I560M probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Setdb2 G A 14: 59,656,903 (GRCm39) T138I possibly damaging Het
Sgsh G T 11: 119,246,300 (GRCm39) P4Q possibly damaging Het
Slco4a1 G T 2: 180,108,880 (GRCm39) W308L probably damaging Het
Ttn T A 2: 76,611,863 (GRCm39) R17346S possibly damaging Het
Ubxn4 A G 1: 128,200,606 (GRCm39) R366G probably damaging Het
Vmn2r90 T G 17: 17,948,408 (GRCm39) N551K probably damaging Het
Other mutations in L1td1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01599:L1td1 APN 4 98,625,581 (GRCm39) missense probably damaging 0.99
IGL02529:L1td1 APN 4 98,625,658 (GRCm39) missense probably benign 0.01
R0254:L1td1 UTSW 4 98,625,419 (GRCm39) nonsense probably null
R0924:L1td1 UTSW 4 98,625,862 (GRCm39) missense probably damaging 1.00
R0930:L1td1 UTSW 4 98,625,862 (GRCm39) missense probably damaging 1.00
R1434:L1td1 UTSW 4 98,626,054 (GRCm39) missense possibly damaging 0.91
R1573:L1td1 UTSW 4 98,625,517 (GRCm39) missense probably benign 0.01
R1751:L1td1 UTSW 4 98,625,686 (GRCm39) missense probably benign 0.32
R1767:L1td1 UTSW 4 98,625,686 (GRCm39) missense probably benign 0.32
R1870:L1td1 UTSW 4 98,625,714 (GRCm39) missense possibly damaging 0.93
R2006:L1td1 UTSW 4 98,621,726 (GRCm39) missense possibly damaging 0.53
R2252:L1td1 UTSW 4 98,625,874 (GRCm39) splice site probably null
R2383:L1td1 UTSW 4 98,625,959 (GRCm39) missense possibly damaging 0.93
R3195:L1td1 UTSW 4 98,625,755 (GRCm39) missense possibly damaging 0.47
R3763:L1td1 UTSW 4 98,626,072 (GRCm39) missense probably damaging 0.99
R3950:L1td1 UTSW 4 98,625,590 (GRCm39) missense probably benign 0.12
R3962:L1td1 UTSW 4 98,625,686 (GRCm39) missense probably benign 0.32
R4430:L1td1 UTSW 4 98,625,388 (GRCm39) missense probably benign 0.00
R4643:L1td1 UTSW 4 98,626,120 (GRCm39) missense probably damaging 0.98
R4661:L1td1 UTSW 4 98,621,861 (GRCm39) missense possibly damaging 0.94
R4885:L1td1 UTSW 4 98,625,548 (GRCm39) missense probably benign 0.01
R5345:L1td1 UTSW 4 98,624,684 (GRCm39) missense probably damaging 1.00
R5589:L1td1 UTSW 4 98,626,341 (GRCm39) missense possibly damaging 0.66
R5800:L1td1 UTSW 4 98,621,999 (GRCm39) missense possibly damaging 0.96
R6207:L1td1 UTSW 4 98,625,655 (GRCm39) missense possibly damaging 0.55
R6309:L1td1 UTSW 4 98,625,328 (GRCm39) missense probably damaging 0.99
R6917:L1td1 UTSW 4 98,622,268 (GRCm39) missense probably benign 0.18
R6945:L1td1 UTSW 4 98,621,933 (GRCm39) missense probably benign 0.33
R7185:L1td1 UTSW 4 98,624,855 (GRCm39) missense possibly damaging 0.72
R7258:L1td1 UTSW 4 98,625,101 (GRCm39) missense probably benign 0.04
R7893:L1td1 UTSW 4 98,621,978 (GRCm39) missense possibly damaging 0.73
R8129:L1td1 UTSW 4 98,621,563 (GRCm39) missense probably benign 0.01
R8430:L1td1 UTSW 4 98,626,109 (GRCm39) missense probably damaging 1.00
R8485:L1td1 UTSW 4 98,625,911 (GRCm39) missense probably damaging 1.00
R8486:L1td1 UTSW 4 98,625,911 (GRCm39) missense probably damaging 1.00
R8549:L1td1 UTSW 4 98,626,280 (GRCm39) missense probably damaging 1.00
R8726:L1td1 UTSW 4 98,622,215 (GRCm39) missense probably damaging 0.98
R8787:L1td1 UTSW 4 98,625,814 (GRCm39) missense probably benign 0.06
R8920:L1td1 UTSW 4 98,624,864 (GRCm39) nonsense probably null
R8921:L1td1 UTSW 4 98,622,175 (GRCm39) missense possibly damaging 0.71
R9087:L1td1 UTSW 4 98,624,699 (GRCm39) missense possibly damaging 0.85
R9228:L1td1 UTSW 4 98,625,932 (GRCm39) missense possibly damaging 0.66
R9486:L1td1 UTSW 4 98,624,899 (GRCm39) missense probably benign
R9656:L1td1 UTSW 4 98,622,223 (GRCm39) missense probably benign 0.32
R9766:L1td1 UTSW 4 98,624,753 (GRCm39) missense probably benign 0.33
RF019:L1td1 UTSW 4 98,625,061 (GRCm39) missense not run
RF031:L1td1 UTSW 4 98,625,026 (GRCm39) small deletion probably benign
RF039:L1td1 UTSW 4 98,625,026 (GRCm39) small deletion probably benign
RF060:L1td1 UTSW 4 98,625,031 (GRCm39) small deletion probably benign
Predicted Primers
Posted On 2017-05-11