Incidental Mutation 'R0924:L1td1'
ID 83061
Institutional Source Beutler Lab
Gene Symbol L1td1
Ensembl Gene ENSMUSG00000087166
Gene Name LINE-1 type transposase domain containing 1
Synonyms ECAT11
MMRRC Submission 039071-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R0924 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 98614991-98626723 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98625862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 686 (N686D)
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 damaging
Transcript: ENSMUST00000154279
AA Change: N620D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127504
Gene: ENSMUSG00000087166
AA Change: N620D

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 damaging
Transcript: ENSMUST00000173659
AA Change: N686D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134149
Gene: ENSMUSG00000087166
AA Change: N686D

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 0.6558 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 97% (69/71)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 A T 8: 114,432,028 (GRCm39) probably null Het
Ahcyl2 A C 6: 29,870,627 (GRCm39) probably null Het
Ajap1 T A 4: 153,470,929 (GRCm39) I293F probably damaging Het
Akap10 T C 11: 61,795,689 (GRCm39) probably benign Het
Aldh3b2 T C 19: 4,029,350 (GRCm39) V241A probably benign Het
Anxa6 A T 11: 54,885,214 (GRCm39) probably null Het
Atpaf1 T A 4: 115,652,635 (GRCm39) V12D probably damaging Het
Aurkb C A 11: 68,936,822 (GRCm39) Y12* probably null Het
Bicdl1 A G 5: 115,799,587 (GRCm39) probably benign Het
Bnc1 A T 7: 81,628,156 (GRCm39) probably benign Het
Bpi A G 2: 158,103,346 (GRCm39) I114V possibly damaging Het
Cacna1c A T 6: 118,652,857 (GRCm39) I772N probably damaging Het
Cacna2d1 A G 5: 16,570,860 (GRCm39) N1045D possibly damaging Het
Ccrl2 A G 9: 110,885,036 (GRCm39) V154A probably benign Het
Celsr3 C A 9: 108,723,224 (GRCm39) Q2831K possibly damaging Het
Cplane1 T C 15: 8,280,554 (GRCm39) probably benign Het
Cul3 A T 1: 80,267,835 (GRCm39) M102K probably damaging Het
Cwf19l2 T C 9: 3,441,047 (GRCm39) probably benign Het
Dlg5 G A 14: 24,185,645 (GRCm39) P1920L probably damaging Het
Dnah2 T C 11: 69,312,134 (GRCm39) H4393R probably damaging Het
Eif2b3 T A 4: 116,938,775 (GRCm39) V408D possibly damaging Het
Eml3 T C 19: 8,910,675 (GRCm39) probably null Het
Enpp2 T C 15: 54,770,355 (GRCm39) probably benign Het
Fcgbpl1 A T 7: 27,839,555 (GRCm39) Y456F probably damaging Het
Gm14178 T A 11: 99,638,326 (GRCm39) T18S Het
H2bc12 G A 13: 22,220,210 (GRCm39) D52N probably damaging Het
H2-M11 A G 17: 36,860,106 (GRCm39) M324V probably benign Het
H2-T13 A T 17: 36,394,824 (GRCm39) V33E probably damaging Het
Hdac10 T C 15: 89,010,065 (GRCm39) T298A probably benign Het
Hepacam A C 9: 37,295,224 (GRCm39) probably benign Het
Hmx3 A T 7: 131,144,813 (GRCm39) H41L probably benign Het
Ifi27l2a A G 12: 103,408,639 (GRCm39) V68A probably damaging Het
Itga11 A G 9: 62,683,956 (GRCm39) E1079G probably benign Het
Krt6a T C 15: 101,599,235 (GRCm39) probably benign Het
Lrrtm2 G A 18: 35,346,808 (GRCm39) R165C probably damaging Het
Macf1 G T 4: 123,279,271 (GRCm39) A3910E probably damaging Het
Muc5ac A T 7: 141,361,252 (GRCm39) Y1521F possibly damaging Het
Myo7a A T 7: 97,747,463 (GRCm39) I129N probably damaging Het
Ncam1 A T 9: 49,473,476 (GRCm39) probably benign Het
Nckap1 A T 2: 80,384,593 (GRCm39) C114S probably benign Het
Nf1 T G 11: 79,344,692 (GRCm39) W1260G probably damaging Het
Or3a1d T C 11: 74,237,624 (GRCm39) Y262C probably damaging Het
Or6b2b A G 1: 92,419,127 (GRCm39) S117P possibly damaging Het
Or6c76b A T 10: 129,692,515 (GRCm39) I43F probably damaging Het
Oxtr A T 6: 112,466,598 (GRCm39) probably null Het
Pabpc4 C T 4: 123,188,458 (GRCm39) R356C possibly damaging Het
Pcbp2 T A 15: 102,398,197 (GRCm39) D182E probably damaging Het
Pgm2 A T 5: 64,269,490 (GRCm39) I526F possibly damaging Het
Rab43 A T 6: 87,769,752 (GRCm39) Y151* probably null Het
Rbm19 A G 5: 120,264,269 (GRCm39) E343G probably benign Het
Rel A T 11: 23,692,439 (GRCm39) D531E probably benign Het
Rfx4 T A 10: 84,704,291 (GRCm39) V262E probably damaging Het
Rnf31 T C 14: 55,830,459 (GRCm39) probably benign Het
Robo3 T A 9: 37,340,778 (GRCm39) probably benign Het
Ryr3 A G 2: 112,672,178 (GRCm39) L1431P probably damaging Het
Sema3d A C 5: 12,513,183 (GRCm39) D51A possibly damaging Het
Sema6a A G 18: 47,381,559 (GRCm39) L996P probably damaging Het
Sh2d4a T A 8: 68,787,775 (GRCm39) F294I probably damaging Het
Sorl1 T A 9: 41,919,470 (GRCm39) probably benign Het
Sox1ot G T 8: 12,480,455 (GRCm39) noncoding transcript Het
Spsb3 A T 17: 25,110,358 (GRCm39) N395I probably damaging Het
Sptan1 A G 2: 29,906,040 (GRCm39) N1662S probably damaging Het
Srd5a2 G T 17: 74,331,516 (GRCm39) N160K probably damaging Het
Sting1 A G 18: 35,868,154 (GRCm39) probably null Het
Tmem132d G A 5: 128,061,503 (GRCm39) probably benign Het
Unc80 A T 1: 66,549,800 (GRCm39) Q686L possibly damaging Het
Vmn2r93 A G 17: 18,524,443 (GRCm39) T146A probably benign Het
Wdr19 A G 5: 65,413,782 (GRCm39) probably benign Het
Zfp646 C T 7: 127,482,982 (GRCm39) Q1500* probably null Het
Zfp683 T C 4: 133,783,138 (GRCm39) Y201H 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
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
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 PCR Primer
(F):5'- GGGCAGGTAGCGATGGTCCTAAAA -3'
(R):5'- TGGTGGACAGAGAGCACTCCAG -3'

Sequencing Primer
(F):5'- acgaacatagaaaaggggagg -3'
(R):5'- gctgaaagccttcgtcttg -3'
Posted On 2013-11-08