Incidental Mutation 'IGL01599:L1td1'
ID |
92042 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01599
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
98614991-98626723 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98625581 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 592
(D592G)
|
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: D526G
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000127504 Gene: ENSMUSG00000087166 AA Change: D526G
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: D592G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000134149 Gene: ENSMUSG00000087166 AA Change: D592G
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 |
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr3 |
T |
C |
1: 90,141,856 (GRCm39) |
V105A |
probably benign |
Het |
Acr |
T |
C |
15: 89,452,617 (GRCm39) |
V18A |
probably benign |
Het |
Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
Aldh16a1 |
A |
G |
7: 44,791,517 (GRCm39) |
F753L |
probably damaging |
Het |
Ankfy1 |
T |
A |
11: 72,629,191 (GRCm39) |
Y338N |
probably benign |
Het |
Aox3 |
C |
T |
1: 58,208,953 (GRCm39) |
R829C |
probably damaging |
Het |
Arhgef11 |
T |
C |
3: 87,644,353 (GRCm39) |
S1535P |
probably benign |
Het |
C4b |
A |
G |
17: 34,961,993 (GRCm39) |
|
probably benign |
Het |
Ccdc157 |
A |
G |
11: 4,098,781 (GRCm39) |
C242R |
probably damaging |
Het |
Cep135 |
T |
A |
5: 76,741,194 (GRCm39) |
M90K |
possibly damaging |
Het |
Cfap36 |
A |
T |
11: 29,194,057 (GRCm39) |
|
probably null |
Het |
Chl1 |
A |
G |
6: 103,685,445 (GRCm39) |
T829A |
probably benign |
Het |
Copb2 |
T |
C |
9: 98,463,203 (GRCm39) |
S473P |
probably damaging |
Het |
Cpb1 |
C |
T |
3: 20,306,118 (GRCm39) |
|
probably null |
Het |
Cpsf1 |
A |
G |
15: 76,480,741 (GRCm39) |
L1295P |
probably damaging |
Het |
Dmp1 |
C |
T |
5: 104,360,328 (GRCm39) |
Q335* |
probably null |
Het |
Dyrk1a |
T |
A |
16: 94,492,743 (GRCm39) |
S621T |
possibly damaging |
Het |
Exoc5 |
T |
A |
14: 49,272,421 (GRCm39) |
Q331L |
probably benign |
Het |
Fmnl1 |
G |
A |
11: 103,077,482 (GRCm39) |
V287M |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,857,750 (GRCm39) |
S2015P |
possibly damaging |
Het |
Gm7052 |
T |
C |
17: 22,258,985 (GRCm39) |
|
probably benign |
Het |
Gprc5c |
A |
G |
11: 114,755,078 (GRCm39) |
I252V |
probably benign |
Het |
Ints3 |
C |
T |
3: 90,301,629 (GRCm39) |
|
probably null |
Het |
Lamb3 |
A |
G |
1: 193,025,720 (GRCm39) |
M1137V |
probably benign |
Het |
Leng8 |
C |
A |
7: 4,148,481 (GRCm39) |
A751E |
probably benign |
Het |
Lfng |
T |
C |
5: 140,598,290 (GRCm39) |
V204A |
probably damaging |
Het |
Lsm14b |
A |
G |
2: 179,674,396 (GRCm39) |
D233G |
probably damaging |
Het |
Map4 |
C |
T |
9: 109,863,836 (GRCm39) |
P354S |
probably benign |
Het |
Mapt |
G |
A |
11: 104,185,741 (GRCm39) |
V53M |
probably damaging |
Het |
Mier1 |
T |
G |
4: 103,012,738 (GRCm39) |
S377A |
possibly damaging |
Het |
Neurog1 |
T |
C |
13: 56,399,660 (GRCm39) |
D29G |
probably damaging |
Het |
Npr3 |
G |
A |
15: 11,895,875 (GRCm39) |
A257V |
probably damaging |
Het |
Nup188 |
T |
C |
2: 30,217,537 (GRCm39) |
V824A |
possibly damaging |
Het |
Olfm4 |
T |
C |
14: 80,258,750 (GRCm39) |
S333P |
probably damaging |
Het |
Or7g30 |
T |
G |
9: 19,353,111 (GRCm39) |
F301V |
probably benign |
Het |
Or9a4 |
A |
C |
6: 40,549,186 (GRCm39) |
I289L |
probably damaging |
Het |
Pbxip1 |
C |
A |
3: 89,350,897 (GRCm39) |
|
probably benign |
Het |
Pde9a |
G |
T |
17: 31,633,124 (GRCm39) |
C38F |
probably damaging |
Het |
Plb1 |
A |
T |
5: 32,499,888 (GRCm39) |
|
probably benign |
Het |
Plcz1 |
T |
C |
6: 139,947,982 (GRCm39) |
|
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,939,672 (GRCm39) |
V1447A |
probably damaging |
Het |
Pnldc1 |
A |
T |
17: 13,125,415 (GRCm39) |
M73K |
probably benign |
Het |
Psg20 |
C |
T |
7: 18,414,963 (GRCm39) |
V311M |
possibly damaging |
Het |
Psmd2 |
G |
T |
16: 20,478,155 (GRCm39) |
|
probably null |
Het |
Rabgap1 |
T |
C |
2: 37,446,281 (GRCm39) |
V859A |
probably damaging |
Het |
Rad51b |
T |
A |
12: 79,374,002 (GRCm39) |
S194T |
probably benign |
Het |
Rb1cc1 |
C |
T |
1: 6,318,995 (GRCm39) |
Q788* |
probably null |
Het |
Ror2 |
C |
T |
13: 53,265,653 (GRCm39) |
G468R |
probably damaging |
Het |
Slamf7 |
A |
G |
1: 171,468,754 (GRCm39) |
I46T |
possibly damaging |
Het |
Stab2 |
A |
G |
10: 86,758,759 (GRCm39) |
S1060P |
probably damaging |
Het |
Syndig1 |
T |
A |
2: 149,845,203 (GRCm39) |
V242E |
probably damaging |
Het |
Tgfbr3 |
G |
A |
5: 107,266,317 (GRCm39) |
T801M |
probably damaging |
Het |
Tmem132c |
T |
C |
5: 127,436,616 (GRCm39) |
|
probably benign |
Het |
Trav21-dv12 |
T |
C |
14: 54,114,188 (GRCm39) |
Y103H |
probably damaging |
Het |
Tut4 |
T |
C |
4: 108,370,596 (GRCm39) |
S871P |
possibly damaging |
Het |
Ubr3 |
T |
C |
2: 69,768,522 (GRCm39) |
V443A |
probably damaging |
Het |
Uhrf2 |
G |
T |
19: 30,069,520 (GRCm39) |
C749F |
probably damaging |
Het |
Ulk2 |
G |
T |
11: 61,682,262 (GRCm39) |
S751* |
probably null |
Het |
Wrn |
G |
A |
8: 33,731,039 (GRCm39) |
P1098S |
possibly damaging |
Het |
Xrcc5 |
T |
C |
1: 72,385,508 (GRCm39) |
V533A |
possibly damaging |
Het |
Zc3h13 |
T |
C |
14: 75,547,163 (GRCm39) |
S223P |
probably damaging |
Het |
|
Other mutations in L1td1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2013-12-09 |