Incidental Mutation 'R8920:L1td1'
| ID |
679183 |
| 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 # |
R8920 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
98614991-98626723 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 98624864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 353
(S353*)
|
| 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 null
Transcript: ENSMUST00000154279
AA Change: S353*
|
| SMART Domains |
Protein: ENSMUSP00000127504
Gene: ENSMUSG00000087166
AA Change: S353*
| 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 null
Transcript: ENSMUST00000173659
AA Change: S353*
|
| SMART Domains |
Protein: ENSMUSP00000134149
Gene: ENSMUSG00000087166
AA Change: S353*
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa10 |
T |
A |
8: 62,527,580 (GRCm39) |
Q160L |
probably benign |
Het |
| Apc2 |
A |
T |
10: 80,149,934 (GRCm39) |
I1663L |
probably benign |
Het |
| Bahcc1 |
C |
G |
11: 120,175,331 (GRCm39) |
R1802G |
probably damaging |
Het |
| C1qtnf1 |
T |
C |
11: 118,339,068 (GRCm39) |
V246A |
possibly damaging |
Het |
| Cbl |
A |
G |
9: 44,078,570 (GRCm39) |
M267T |
probably damaging |
Het |
| Cd300lf |
T |
C |
11: 115,017,180 (GRCm39) |
K48E |
probably benign |
Het |
| Cfap46 |
G |
T |
7: 139,232,442 (GRCm39) |
N840K |
|
Het |
| Cfap54 |
T |
A |
10: 92,776,199 (GRCm39) |
|
probably null |
Het |
| Cnrip1 |
A |
C |
11: 17,005,003 (GRCm39) |
K184N |
unknown |
Het |
| Dnah11 |
A |
T |
12: 118,077,674 (GRCm39) |
L1273Q |
probably damaging |
Het |
| Dyrk1a |
T |
G |
16: 94,460,488 (GRCm39) |
I48R |
probably benign |
Het |
| Exoc7 |
T |
C |
11: 116,180,055 (GRCm39) |
E683G |
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,799,171 (GRCm39) |
Y54C |
probably benign |
Het |
| Igtp |
A |
T |
11: 58,096,999 (GRCm39) |
I57F |
probably damaging |
Het |
| Inhbb |
T |
C |
1: 119,345,107 (GRCm39) |
N394S |
probably damaging |
Het |
| Jag1 |
T |
C |
2: 136,931,143 (GRCm39) |
H663R |
probably benign |
Het |
| Kcna6 |
A |
G |
6: 126,716,610 (GRCm39) |
F93S |
probably damaging |
Het |
| Lgals12 |
T |
C |
19: 7,576,166 (GRCm39) |
I253V |
possibly damaging |
Het |
| Lgals4 |
C |
T |
7: 28,540,289 (GRCm39) |
R195C |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 42,213,610 (GRCm39) |
D67E |
|
Het |
| Lrrc43 |
T |
C |
5: 123,639,194 (GRCm39) |
S408P |
probably benign |
Het |
| Madd |
T |
C |
2: 91,007,168 (GRCm39) |
I315V |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,719,280 (GRCm39) |
F2281S |
probably damaging |
Het |
| Med13l |
A |
T |
5: 118,885,543 (GRCm39) |
K1499* |
probably null |
Het |
| Myoc |
A |
G |
1: 162,475,127 (GRCm39) |
E226G |
probably benign |
Het |
| Nmur1 |
T |
C |
1: 86,315,577 (GRCm39) |
Y96C |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,948,863 (GRCm39) |
D145V |
probably damaging |
Het |
| Or7g18 |
C |
A |
9: 18,787,394 (GRCm39) |
T254K |
probably damaging |
Het |
| Paqr8 |
A |
T |
1: 21,005,245 (GRCm39) |
Q133L |
probably damaging |
Het |
| Plbd2 |
T |
C |
5: 120,630,915 (GRCm39) |
D230G |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,744,218 (GRCm39) |
I694T |
probably benign |
Het |
| Rnf139 |
C |
T |
15: 58,771,529 (GRCm39) |
T518I |
possibly damaging |
Het |
| Ryr1 |
G |
T |
7: 28,789,640 (GRCm39) |
S1498R |
possibly damaging |
Het |
| Senp6 |
T |
A |
9: 79,999,561 (GRCm39) |
S72T |
probably benign |
Het |
| Slc12a7 |
C |
T |
13: 73,946,568 (GRCm39) |
P554S |
probably damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,687,990 (GRCm39) |
R39S |
probably benign |
Het |
| Snrpe |
T |
G |
1: 133,534,199 (GRCm39) |
H88P |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,533,088 (GRCm39) |
V3115E |
probably damaging |
Het |
| Stk39 |
C |
T |
2: 68,302,191 (GRCm39) |
V11I |
unknown |
Het |
| Tapbpl |
T |
C |
6: 125,205,214 (GRCm39) |
Y244C |
probably damaging |
Het |
| Tpx2 |
A |
G |
2: 152,726,214 (GRCm39) |
E393G |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,741,620 (GRCm39) |
N111Y |
probably damaging |
Het |
| Vstm4 |
C |
T |
14: 32,585,615 (GRCm39) |
R61C |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,221,615 (GRCm39) |
F698I |
possibly damaging |
Het |
| Zfp467 |
G |
A |
6: 48,415,414 (GRCm39) |
P413S |
probably benign |
Het |
| Zfp532 |
G |
T |
18: 65,820,390 (GRCm39) |
A992S |
probably benign |
Het |
| Zfp622 |
G |
A |
15: 25,996,321 (GRCm39) |
W430* |
probably null |
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 |
|
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 |
|
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'- TCACTGAGAAAACATGGTTGGC -3'
(R):5'- TCGCTTCGTATGGAGGCTAC -3'
Sequencing Primer
(F):5'- CACTGAGAAAACATGGTTGGCTTAAC -3'
(R):5'- GAGGCTACCTCCTTCTTCCC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation