Incidental Mutation 'R7185:L1td1'
| ID |
559226 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
L1td1
|
| Ensembl Gene |
ENSMUSG00000087166 |
| Gene Name |
LINE-1 type transposase domain containing 1 |
| Synonyms |
ECAT11 |
| MMRRC Submission |
045237-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R7185 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
98614991-98626723 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98624855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 350
(E350G)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000154279
AA Change: E350G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127504
Gene: ENSMUSG00000087166
AA Change: E350G
| 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 |
unknown
Transcript: ENSMUST00000173659
AA Change: E350G
|
| SMART Domains |
Protein: ENSMUSP00000134149
Gene: ENSMUSG00000087166
AA Change: E350G
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (63/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afmid |
T |
A |
11: 117,725,599 (GRCm39) |
D95E |
possibly damaging |
Het |
| Ak7 |
A |
G |
12: 105,708,535 (GRCm39) |
E330G |
probably damaging |
Het |
| B3gat2 |
A |
C |
1: 23,802,272 (GRCm39) |
D186A |
probably damaging |
Het |
| Baz1a |
G |
A |
12: 55,022,093 (GRCm39) |
T63M |
probably damaging |
Het |
| Bhmt2 |
A |
T |
13: 93,799,779 (GRCm39) |
M219K |
probably benign |
Het |
| Cd200r1 |
A |
G |
16: 44,609,975 (GRCm39) |
T65A |
probably benign |
Het |
| Cdc14a |
T |
C |
3: 116,087,676 (GRCm39) |
E494G |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,385,686 (GRCm39) |
L2198P |
probably damaging |
Het |
| Col4a2 |
T |
A |
8: 11,449,739 (GRCm39) |
D117E |
probably damaging |
Het |
| Ddr2 |
C |
A |
1: 169,814,623 (GRCm39) |
V607L |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,729,687 (GRCm39) |
Y763C |
probably damaging |
Het |
| Ecscr |
T |
A |
18: 35,849,857 (GRCm39) |
T93S |
probably benign |
Het |
| Eogt |
C |
T |
6: 97,097,139 (GRCm39) |
R321H |
probably damaging |
Het |
| Fam174c |
G |
A |
10: 80,008,963 (GRCm39) |
G55E |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,784,635 (GRCm39) |
S873P |
probably damaging |
Het |
| Gm29735 |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
7: 141,710,266 (GRCm39) |
|
probably benign |
Het |
| Gm8247 |
A |
G |
14: 44,823,859 (GRCm39) |
I182V |
|
Het |
| Gpatch2 |
T |
C |
1: 186,958,394 (GRCm39) |
S250P |
probably damaging |
Het |
| Gramd1b |
T |
C |
9: 40,244,859 (GRCm39) |
D183G |
probably benign |
Het |
| Hspa5 |
T |
C |
2: 34,665,138 (GRCm39) |
V433A |
probably damaging |
Het |
| Igkv8-30 |
C |
A |
6: 70,094,590 (GRCm39) |
Q4H |
probably benign |
Het |
| Igkv8-30 |
T |
G |
6: 70,094,591 (GRCm39) |
Q4P |
probably damaging |
Het |
| Kcnj5 |
T |
G |
9: 32,233,472 (GRCm39) |
N281T |
probably damaging |
Het |
| Layn |
T |
C |
9: 50,985,173 (GRCm39) |
T128A |
possibly damaging |
Het |
| Liph |
T |
C |
16: 21,814,089 (GRCm39) |
M11V |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,691,524 (GRCm39) |
|
probably null |
Het |
| Mcrip1 |
A |
C |
11: 120,435,505 (GRCm39) |
|
probably null |
Het |
| Myh1 |
G |
A |
11: 67,098,285 (GRCm39) |
E486K |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,398,746 (GRCm39) |
K612R |
possibly damaging |
Het |
| Nek10 |
A |
G |
14: 14,846,621 (GRCm38) |
K245E |
probably benign |
Het |
| Nipal1 |
T |
A |
5: 72,824,198 (GRCm39) |
S181T |
probably damaging |
Het |
| Nme8 |
A |
C |
13: 19,862,053 (GRCm39) |
L192R |
probably damaging |
Het |
| Nol7 |
G |
A |
13: 43,560,307 (GRCm39) |
|
probably null |
Het |
| Oas1b |
G |
A |
5: 120,955,837 (GRCm39) |
R205H |
not run |
Het |
| Or13j1 |
A |
G |
4: 43,706,082 (GRCm39) |
I162T |
possibly damaging |
Het |
| Or4f56 |
T |
G |
2: 111,704,167 (GRCm39) |
E11A |
possibly damaging |
Het |
| Or5w15 |
A |
G |
2: 87,568,489 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pcdhgb6 |
T |
C |
18: 37,876,701 (GRCm39) |
S470P |
probably benign |
Het |
| Pdzk1ip1 |
A |
T |
4: 114,946,305 (GRCm39) |
H55L |
possibly damaging |
Het |
| Pibf1 |
T |
A |
14: 99,344,752 (GRCm39) |
M124K |
possibly damaging |
Het |
| Prr36 |
C |
T |
8: 4,266,458 (GRCm39) |
G31R |
probably damaging |
Het |
| Ptchd4 |
C |
A |
17: 42,814,079 (GRCm39) |
A660D |
probably damaging |
Het |
| Qsox2 |
A |
G |
2: 26,110,718 (GRCm39) |
V166A |
possibly damaging |
Het |
| Rb1cc1 |
A |
T |
1: 6,308,607 (GRCm39) |
Y164F |
probably damaging |
Het |
| Rest |
C |
A |
5: 77,430,331 (GRCm39) |
H917N |
probably benign |
Het |
| Rlig1 |
T |
C |
10: 100,425,073 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,315,024 (GRCm39) |
C955R |
|
Het |
| Scn7a |
T |
A |
2: 66,518,139 (GRCm39) |
N1024I |
possibly damaging |
Het |
| Sec11c |
T |
A |
18: 65,947,963 (GRCm39) |
D134E |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spo11 |
T |
A |
2: 172,823,985 (GRCm39) |
|
probably null |
Het |
| Srd5a3 |
T |
C |
5: 76,301,419 (GRCm39) |
I216T |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,570,864 (GRCm39) |
N296S |
probably benign |
Het |
| Tepsin |
T |
C |
11: 119,984,643 (GRCm39) |
D259G |
probably damaging |
Het |
| Themis |
G |
A |
10: 28,657,873 (GRCm39) |
S300N |
probably benign |
Het |
| Trhr2 |
T |
A |
8: 123,087,396 (GRCm39) |
T15S |
probably benign |
Het |
| Uts2r |
T |
C |
11: 121,051,706 (GRCm39) |
V190A |
probably benign |
Het |
| Vmn2r77 |
A |
C |
7: 86,451,035 (GRCm39) |
D307A |
probably benign |
Het |
| Xpa |
G |
T |
4: 46,183,078 (GRCm39) |
T237K |
probably benign |
Het |
| Zfp1006 |
A |
T |
8: 129,946,502 (GRCm39) |
C108S |
probably benign |
Het |
| Zfp335 |
A |
G |
2: 164,735,164 (GRCm39) |
|
probably null |
Het |
| Zfp451 |
A |
T |
1: 33,808,974 (GRCm39) |
D962E |
probably damaging |
Het |
| Zfp60 |
A |
G |
7: 27,437,830 (GRCm39) |
T46A |
probably damaging |
Het |
| Zfy1 |
G |
A |
Y: 725,464 (GRCm39) |
S767L |
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 |
|
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 |
|
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'- CACTGAGAAAACATGGTTGGC -3'
(R):5'- TTCGCTTCGTATGGAGGCTAC -3'
Sequencing Primer
(F):5'- CACTGAGAAAACATGGTTGGCTTAAC -3'
(R):5'- GAGGCTACCTCCTTCTTCCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation