Incidental Mutation 'R4643:L1td1'
ID |
351721 |
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)
|
Stock # |
R4643 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
98614991-98626723 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98626120 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 772
(S772P)
|
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: S706P
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000127504 Gene: ENSMUSG00000087166 AA Change: S706P
Domain | Start | End | E-Value | Type |
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: S772P
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134149 Gene: ENSMUSG00000087166 AA Change: S772P
Domain | Start | End | E-Value | Type |
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: 97.2%
- 20x: 95.1%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
A |
G |
13: 119,611,396 (GRCm39) |
N398D |
probably damaging |
Het |
Adamtsl4 |
G |
A |
3: 95,591,929 (GRCm39) |
A58V |
possibly damaging |
Het |
Anapc2 |
T |
A |
2: 25,166,406 (GRCm39) |
V105E |
probably benign |
Het |
C3ar1 |
A |
T |
6: 122,827,933 (GRCm39) |
C95S |
probably damaging |
Het |
Ccdc87 |
G |
A |
19: 4,891,877 (GRCm39) |
G790R |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,391,786 (GRCm39) |
M682K |
probably benign |
Het |
Cyp2j13 |
T |
C |
4: 95,945,161 (GRCm39) |
Q289R |
possibly damaging |
Het |
Dclk2 |
A |
T |
3: 86,713,487 (GRCm39) |
M453K |
possibly damaging |
Het |
Dscam |
G |
A |
16: 96,486,501 (GRCm39) |
T1058M |
probably damaging |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Grip1 |
A |
G |
10: 119,856,006 (GRCm39) |
N659S |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,487,118 (GRCm39) |
K3371R |
possibly damaging |
Het |
Il1a |
T |
A |
2: 129,146,623 (GRCm39) |
T157S |
probably benign |
Het |
Il23r |
A |
G |
6: 67,400,977 (GRCm39) |
V451A |
probably benign |
Het |
Iqch |
T |
C |
9: 63,502,084 (GRCm39) |
T40A |
probably benign |
Het |
Irag2 |
A |
T |
6: 145,113,786 (GRCm39) |
D318V |
probably benign |
Het |
Kazald1 |
G |
T |
19: 45,066,788 (GRCm39) |
V196L |
probably benign |
Het |
Lgi1 |
A |
T |
19: 38,289,158 (GRCm39) |
D145V |
probably damaging |
Het |
Lrp12 |
A |
T |
15: 39,735,418 (GRCm39) |
L838Q |
probably damaging |
Het |
Mrgprf |
C |
A |
7: 144,862,242 (GRCm39) |
P268Q |
probably benign |
Het |
Myef2 |
T |
C |
2: 124,958,731 (GRCm39) |
K66R |
possibly damaging |
Het |
Myo3b |
A |
G |
2: 70,069,186 (GRCm39) |
D475G |
possibly damaging |
Het |
Numa1 |
C |
G |
7: 101,649,872 (GRCm39) |
|
probably null |
Het |
Or6c214 |
T |
C |
10: 129,590,824 (GRCm39) |
E165G |
probably damaging |
Het |
Prdm8 |
T |
C |
5: 98,332,446 (GRCm39) |
S116P |
possibly damaging |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
R3hcc1l |
G |
T |
19: 42,551,239 (GRCm39) |
V79F |
probably benign |
Het |
Rasal1 |
C |
T |
5: 120,817,029 (GRCm39) |
T779I |
probably benign |
Het |
Scaper |
A |
C |
9: 55,745,463 (GRCm39) |
F596V |
probably damaging |
Het |
Slco2b1 |
C |
T |
7: 99,316,214 (GRCm39) |
V439M |
probably benign |
Het |
Slco6c1 |
A |
T |
1: 96,990,149 (GRCm39) |
D680E |
probably benign |
Het |
Smurf1 |
A |
T |
5: 144,816,179 (GRCm39) |
F725L |
probably damaging |
Het |
Snd1 |
A |
G |
6: 28,880,248 (GRCm39) |
E674G |
probably benign |
Het |
Srcap |
C |
T |
7: 127,140,948 (GRCm39) |
P1515L |
probably damaging |
Het |
Sycp2l |
A |
G |
13: 41,296,941 (GRCm39) |
M341V |
probably benign |
Het |
Tmprss6 |
T |
A |
15: 78,329,556 (GRCm39) |
I492F |
probably damaging |
Het |
Trip10 |
G |
T |
17: 57,568,658 (GRCm39) |
E416* |
probably null |
Het |
Tstd2 |
T |
C |
4: 46,129,297 (GRCm39) |
D177G |
possibly damaging |
Het |
Ugt1a5 |
A |
T |
1: 88,094,147 (GRCm39) |
N125I |
possibly damaging |
Het |
Vmn2r7 |
G |
T |
3: 64,623,825 (GRCm39) |
S165Y |
probably damaging |
Het |
Zfp663 |
A |
T |
2: 165,194,925 (GRCm39) |
H431Q |
probably benign |
Het |
|
Other mutations in L1td1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- TAGCTTGCACGATTGAGGC -3'
(R):5'- TTTGGTGGACAGAGAGCACTC -3'
Sequencing Primer
(F):5'- TCCAACATCCGAGTGATAGGGATTC -3'
(R):5'- AGCACTCCAGGTTGCTAATG -3'
|
Posted On |
2015-10-08 |