Incidental Mutation 'R3763:L1td1'
ID 270586
Institutional Source Beutler Lab
Gene Symbol L1td1
Ensembl Gene ENSMUSG00000087166
Gene Name LINE-1 type transposase domain containing 1
Synonyms ECAT11
MMRRC Submission 040873-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R3763 (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 98626072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 756 (R756G)
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 possibly damaging
Transcript: ENSMUST00000154279
AA Change: R690G

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127504
Gene: ENSMUSG00000087166
AA Change: R690G

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: R756G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134149
Gene: ENSMUSG00000087166
AA Change: R756G

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (37/37)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a A G 2: 48,760,331 (GRCm39) E29G possibly damaging Het
Aff3 A G 1: 38,291,770 (GRCm39) probably benign Het
AW146154 A G 7: 41,129,794 (GRCm39) C441R probably damaging Het
Cacna1a T C 8: 85,310,271 (GRCm39) V1443A possibly damaging Het
Commd1 T A 11: 22,924,102 (GRCm39) F292Y probably benign Het
Ct45a C T X: 55,590,568 (GRCm39) V78I probably benign Het
Ddx18 A G 1: 121,489,106 (GRCm39) Y314H probably damaging Het
Dna2 C T 10: 62,802,576 (GRCm39) T898I probably damaging Het
Epc1 C A 18: 6,440,091 (GRCm39) V59L possibly damaging Het
Etv6 C A 6: 134,239,975 (GRCm39) probably benign Het
Fam118a A G 15: 84,937,998 (GRCm39) D293G possibly damaging Het
Gzmn A C 14: 56,404,361 (GRCm39) S159A probably benign Het
Insc A G 7: 114,390,207 (GRCm39) D26G probably damaging Het
Ltk A G 2: 119,582,318 (GRCm39) L499P probably benign Het
Mast4 A T 13: 102,923,927 (GRCm39) L291M probably damaging Het
Nefm G T 14: 68,361,797 (GRCm39) R156S probably damaging Het
Nppc T A 1: 86,597,580 (GRCm39) N63Y probably damaging Het
Or5p79 A T 7: 108,221,924 (GRCm39) I302F probably damaging Het
Or6c69 A G 10: 129,747,314 (GRCm39) S278P probably damaging Het
Pcdhb7 T C 18: 37,474,936 (GRCm39) V24A probably benign Het
Pcm1 C A 8: 41,733,114 (GRCm39) Q787K probably damaging Het
Prg3 A G 2: 84,823,334 (GRCm39) K170E possibly damaging Het
Slc25a54 T C 3: 109,019,370 (GRCm39) S325P probably damaging Het
Slc44a1 T C 4: 53,563,286 (GRCm39) V671A probably benign Het
Spock3 T A 8: 63,597,049 (GRCm39) probably null Het
Stk-ps2 G A 1: 46,069,081 (GRCm39) noncoding transcript Het
Svep1 T G 4: 58,084,833 (GRCm39) D1835A possibly damaging Het
Tmcc3 A G 10: 94,415,179 (GRCm39) T294A probably benign Het
Tsen54 A G 11: 115,711,237 (GRCm39) N62S probably benign Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn2r18 G A 5: 151,508,644 (GRCm39) A160V probably damaging Het
Wnk4 T C 11: 101,160,114 (GRCm39) V661A probably benign Het
Zfhx4 A G 3: 5,468,404 (GRCm39) Y2854C probably damaging Het
Zfp563 G T 17: 33,323,902 (GRCm39) E166* probably null Het
Zfp687 T A 3: 94,919,391 (GRCm39) N127I probably damaging Het
Zfp958 T A 8: 4,676,226 (GRCm39) probably null 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
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'- TTAGCTTGCACGATTGAGGC -3'
(R):5'- TTTTGGTGGACAGAGAGCACTC -3'

Sequencing Primer
(F):5'- TCCAACATCCGAGTGATAGGGATTC -3'
(R):5'- AGCACTCCAGGTTGCTAATG -3'
Posted On 2015-03-18