Incidental Mutation 'R3950:L1td1'
ID |
307859 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
L1td1
|
Ensembl Gene |
ENSMUSG00000087166 |
Gene Name |
LINE-1 type transposase domain containing 1 |
Synonyms |
ECAT11 |
MMRRC Submission |
040930-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R3950 (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 98625590 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 595
(L595P)
|
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
AA Change: L529P
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000127504 Gene: ENSMUSG00000087166 AA Change: L529P
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 benign
Transcript: ENSMUST00000173659
AA Change: L595P
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000134149 Gene: ENSMUSG00000087166 AA Change: L595P
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: 97.3%
- 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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
C |
2: 68,494,747 (GRCm39) |
|
probably null |
Het |
Ahnak2 |
A |
T |
12: 112,749,409 (GRCm39) |
I186N |
probably damaging |
Het |
Appbp2 |
A |
G |
11: 85,085,532 (GRCm39) |
I458T |
probably damaging |
Het |
Arhgef25 |
T |
C |
10: 127,021,013 (GRCm39) |
Y291C |
probably damaging |
Het |
Ate1 |
T |
C |
7: 130,069,022 (GRCm39) |
Y415C |
probably damaging |
Het |
B4galt4 |
G |
T |
16: 38,588,384 (GRCm39) |
A72S |
probably benign |
Het |
C3 |
T |
C |
17: 57,532,286 (GRCm39) |
R178G |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,493,105 (GRCm39) |
Y3C |
probably benign |
Het |
Col11a1 |
T |
C |
3: 113,915,094 (GRCm39) |
|
probably null |
Het |
Col22a1 |
A |
G |
15: 71,849,207 (GRCm39) |
F294L |
possibly damaging |
Het |
Dera |
A |
G |
6: 137,814,118 (GRCm39) |
Y100C |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,112,061 (GRCm39) |
Y276* |
probably null |
Het |
Eea1 |
A |
T |
10: 95,877,996 (GRCm39) |
N1389I |
probably damaging |
Het |
Epha4 |
A |
T |
1: 77,376,353 (GRCm39) |
Y509N |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Fezf1 |
T |
A |
6: 23,247,419 (GRCm39) |
K219* |
probably null |
Het |
Fsd1 |
G |
A |
17: 56,302,517 (GRCm39) |
|
probably null |
Het |
Haspin |
A |
G |
11: 73,027,221 (GRCm39) |
Y623H |
probably damaging |
Het |
Hsd3b1 |
C |
T |
3: 98,763,454 (GRCm39) |
V56M |
possibly damaging |
Het |
Hyou1 |
C |
T |
9: 44,296,524 (GRCm39) |
T483I |
probably damaging |
Het |
Kdm2a |
A |
G |
19: 4,393,260 (GRCm39) |
L365S |
possibly damaging |
Het |
Kdm6b |
G |
T |
11: 69,296,441 (GRCm39) |
P609T |
probably damaging |
Het |
Klhl18 |
T |
A |
9: 110,257,970 (GRCm39) |
Y490F |
probably damaging |
Het |
Ky |
C |
T |
9: 102,419,627 (GRCm39) |
Q545* |
probably null |
Het |
Map3k20 |
T |
G |
2: 72,268,644 (GRCm39) |
I550M |
probably damaging |
Het |
Mug1 |
T |
A |
6: 121,855,489 (GRCm39) |
V941E |
probably damaging |
Het |
Ndst1 |
T |
C |
18: 60,830,211 (GRCm39) |
N633S |
probably benign |
Het |
Ninl |
A |
T |
2: 150,794,408 (GRCm39) |
I740K |
possibly damaging |
Het |
Npepl1 |
A |
G |
2: 173,962,906 (GRCm39) |
N431D |
probably damaging |
Het |
Or5w10 |
T |
C |
2: 87,375,409 (GRCm39) |
T160A |
probably damaging |
Het |
Pacs2 |
T |
C |
12: 113,024,733 (GRCm39) |
S408P |
probably damaging |
Het |
Pard6b |
C |
T |
2: 167,941,114 (GRCm39) |
T367I |
probably damaging |
Het |
Pcdhga7 |
A |
G |
18: 37,849,568 (GRCm39) |
E525G |
probably damaging |
Het |
Pctp |
A |
G |
11: 89,878,144 (GRCm39) |
I130T |
probably benign |
Het |
Pcx |
C |
T |
19: 4,667,995 (GRCm39) |
H506Y |
probably benign |
Het |
Pdhx |
A |
G |
2: 102,865,586 (GRCm39) |
S199P |
probably damaging |
Het |
Pdia2 |
C |
A |
17: 26,416,590 (GRCm39) |
|
probably null |
Het |
Pif1 |
C |
A |
9: 65,499,116 (GRCm39) |
N445K |
probably damaging |
Het |
Prickle4 |
T |
C |
17: 47,999,507 (GRCm39) |
K349E |
probably benign |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ptpdc1 |
A |
T |
13: 48,742,670 (GRCm39) |
M173K |
probably damaging |
Het |
Rb1 |
A |
G |
14: 73,500,102 (GRCm39) |
L515P |
probably damaging |
Het |
Rcvrn |
A |
G |
11: 67,590,877 (GRCm39) |
K154E |
probably damaging |
Het |
Ros1 |
C |
T |
10: 51,942,484 (GRCm39) |
V2059I |
probably damaging |
Het |
Rtn4ip1 |
T |
A |
10: 43,785,893 (GRCm39) |
|
probably null |
Het |
Sema5a |
T |
C |
15: 32,689,484 (GRCm39) |
Y1050H |
probably damaging |
Het |
Slc25a28 |
C |
T |
19: 43,652,708 (GRCm39) |
V318I |
probably benign |
Het |
Srek1 |
G |
A |
13: 103,881,403 (GRCm39) |
R408W |
unknown |
Het |
Synrg |
C |
T |
11: 83,880,641 (GRCm39) |
T444I |
probably damaging |
Het |
Ticrr |
T |
C |
7: 79,331,817 (GRCm39) |
L776S |
probably damaging |
Het |
Tmem127 |
T |
C |
2: 127,090,577 (GRCm39) |
L31P |
probably damaging |
Het |
Tmprss15 |
T |
A |
16: 78,870,074 (GRCm39) |
T190S |
probably benign |
Het |
Trip10 |
T |
A |
17: 57,560,411 (GRCm39) |
|
probably null |
Het |
Ttc6 |
A |
G |
12: 57,696,292 (GRCm39) |
Y31C |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,661,729 (GRCm39) |
H1718L |
possibly damaging |
Het |
Zbtb38 |
A |
G |
9: 96,569,599 (GRCm39) |
F495S |
probably damaging |
Het |
Zfp280d |
G |
T |
9: 72,203,301 (GRCm39) |
Q16H |
possibly damaging |
Het |
Zfp521 |
A |
G |
18: 13,979,403 (GRCm39) |
S337P |
probably damaging |
Het |
Zswim9 |
T |
A |
7: 12,995,503 (GRCm39) |
T218S |
possibly damaging |
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 |
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'- AACCTTATATTTGACTTCTCCATCAGA -3'
(R):5'- TGGACAGAGAGCACTCCA -3'
Sequencing Primer
(F):5'- CTCCATCAGAATCTTTAGGGGCAG -3'
(R):5'- GTGCTCATCCACTGAATTAGGGAC -3'
|
Posted On |
2015-04-17 |