Incidental Mutation 'R6945:L1td1'
ID 540832
Institutional Source Beutler Lab
Gene Symbol L1td1
Ensembl Gene ENSMUSG00000087166
Gene Name LINE-1 type transposase domain containing 1
Synonyms ECAT11
MMRRC Submission 045059-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R6945 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 98614991-98626723 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98621933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 165 (V165A)
Ref Sequence ENSEMBL: ENSMUSP00000127504 (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
AA Change: V165A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127504
Gene: ENSMUSG00000087166
AA Change: V165A

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 unknown
Transcript: ENSMUST00000173659
AA Change: V165A
SMART Domains Protein: ENSMUSP00000134149
Gene: ENSMUSG00000087166
AA Change: V165A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 96% (51/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T A 16: 20,218,759 (GRCm39) T208S probably benign Het
Acaa2 A G 18: 74,926,380 (GRCm39) E112G probably benign Het
Adgrb1 A G 15: 74,421,873 (GRCm39) N881S probably damaging Het
Adgre1 A G 17: 57,717,844 (GRCm39) E314G probably benign Het
Adgre1 A G 17: 57,727,399 (GRCm39) E443G probably benign Het
Akp3 A G 1: 87,053,353 (GRCm39) Y102C probably damaging Het
Birc6 A G 17: 74,886,526 (GRCm39) N618S probably benign Het
Bpifc A G 10: 85,815,078 (GRCm39) V296A probably benign Het
Cacna2d3 G A 14: 28,691,275 (GRCm39) probably benign Het
Cacnb4 T C 2: 52,364,966 (GRCm39) N99S probably damaging Het
Cd38 A G 5: 44,065,348 (GRCm39) Y283C probably damaging Het
Celf4 T A 18: 25,629,293 (GRCm39) Q411L probably damaging Het
Cemip A T 7: 83,647,755 (GRCm39) H108Q probably damaging Het
Col23a1 A G 11: 51,452,720 (GRCm39) E225G unknown Het
Dnah11 T C 12: 118,024,045 (GRCm39) E1902G probably damaging Het
Dst A G 1: 34,229,571 (GRCm39) D2063G probably damaging Het
Fsip2 A T 2: 82,823,184 (GRCm39) I6306L probably benign Het
Furin A G 7: 80,040,838 (GRCm39) S667P possibly damaging Het
Glmp T A 3: 88,233,139 (GRCm39) S92R probably benign Het
Gm11563 C G 11: 99,549,298 (GRCm39) C152S unknown Het
Gm3486 A G 14: 41,206,518 (GRCm39) V185A probably benign Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
Hyal1 C A 9: 107,456,369 (GRCm39) A102E probably damaging Het
Invs T C 4: 48,421,785 (GRCm39) C806R probably benign Het
Lama1 A G 17: 68,120,861 (GRCm39) T2666A Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrrc8a A G 2: 30,146,239 (GRCm39) Y351C probably damaging Het
Myh7b T C 2: 155,464,152 (GRCm39) F551S possibly damaging Het
Myo19 A G 11: 84,788,386 (GRCm39) T333A probably benign Het
Nrp2 A T 1: 62,799,947 (GRCm39) N387I probably damaging Het
Oas2 T C 5: 120,874,204 (GRCm39) D543G probably benign Het
Or2g25 A G 17: 37,970,405 (GRCm39) I273T possibly damaging Het
Or5al6 A G 2: 85,976,428 (GRCm39) S217P probably damaging Het
Pak5 A G 2: 135,942,859 (GRCm39) V427A probably benign Het
Pfas G A 11: 68,891,356 (GRCm39) A247V probably benign Het
Pramel52-ps C T 5: 94,531,490 (GRCm39) H125Y possibly damaging Het
Psat1 T A 19: 15,894,545 (GRCm39) T115S probably benign Het
Psme4 T A 11: 30,787,437 (GRCm39) D1077E probably benign Het
Rabgap1l A G 1: 160,509,752 (GRCm39) S442P probably benign Het
Ralgapa1 A G 12: 55,822,976 (GRCm39) M280T possibly damaging Het
Rb1cc1 A T 1: 6,331,256 (GRCm39) E394D probably damaging Het
Seh1l T C 18: 67,922,460 (GRCm39) V271A probably benign Het
Sf3b1 A T 1: 55,036,315 (GRCm39) N919K probably benign Het
Sftpd A G 14: 40,896,449 (GRCm39) S245P possibly damaging Het
Slc22a15 T C 3: 101,831,430 (GRCm39) E2G probably damaging Het
Spta1 A G 1: 174,036,891 (GRCm39) D1134G possibly damaging Het
Syna A G 5: 134,587,815 (GRCm39) V378A probably damaging Het
Tchp A G 5: 114,847,411 (GRCm39) K77E possibly damaging Het
Tescl T C 7: 24,032,956 (GRCm39) N123S probably benign Het
Trio C T 15: 27,824,176 (GRCm39) R1443Q probably damaging Het
Trrap A T 5: 144,727,665 (GRCm39) Y462F possibly damaging Het
Vmn1r78 A G 7: 11,886,832 (GRCm39) T148A probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zfp1007 A C 5: 109,824,711 (GRCm39) N246K probably benign 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
R2472:L1td1 UTSW 4 98,621,396 (GRCm39) unclassified probably benign
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
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 PCR Primer
(F):5'- GATGCAATCTCGGAAAGGCC -3'
(R):5'- GCACCTATACTCTTCACGACCG -3'

Sequencing Primer
(F):5'- TCTCGGAAAGGCCAAAGC -3'
(R):5'- TGCGGGAACACATCTTTCAG -3'
Posted On 2018-11-28