Incidental Mutation 'IGL02415:Llgl2'
| ID |
292401 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Llgl2
|
| Ensembl Gene |
ENSMUSG00000020782 |
| Gene Name |
LLGL2 scribble cell polarity complex component |
| Synonyms |
9130006H11Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.725)
|
| Stock # |
IGL02415
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
115824049-115855780 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115853285 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 773
(M773V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103032]
[ENSMUST00000177736]
|
| AlphaFold |
Q3TJ91 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103032
AA Change: M773V
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099321
Gene: ENSMUSG00000020782
AA Change: M773V
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
24 |
60 |
9.17e1 |
SMART |
|
WD40
|
62 |
101 |
7.96e0 |
SMART |
|
Blast:WD40
|
112 |
157 |
6e-20 |
BLAST |
|
WD40
|
181 |
217 |
3.96e1 |
SMART |
|
WD40
|
221 |
258 |
5.7e1 |
SMART |
|
Pfam:LLGL
|
268 |
372 |
3.2e-47 |
PFAM |
|
WD40
|
411 |
451 |
1.38e0 |
SMART |
|
Blast:WD40
|
489 |
532 |
3e-12 |
BLAST |
|
low complexity region
|
536 |
547 |
N/A |
INTRINSIC |
|
Blast:WD40
|
576 |
615 |
2e-10 |
BLAST |
|
low complexity region
|
649 |
668 |
N/A |
INTRINSIC |
|
Blast:WD40
|
830 |
879 |
2e-10 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128826
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132999
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147878
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177736
AA Change: M797V
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000136054
Gene: ENSMUSG00000020782
AA Change: M797V
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
24 |
60 |
5.9e-1 |
SMART |
|
WD40
|
62 |
101 |
5.2e-2 |
SMART |
|
Blast:WD40
|
112 |
157 |
6e-20 |
BLAST |
|
WD40
|
181 |
217 |
2.5e-1 |
SMART |
|
WD40
|
221 |
258 |
3.6e-1 |
SMART |
|
Pfam:LLGL
|
271 |
372 |
6.2e-41 |
PFAM |
|
WD40
|
411 |
451 |
8.8e-3 |
SMART |
|
Blast:WD40
|
489 |
532 |
3e-12 |
BLAST |
|
low complexity region
|
536 |
547 |
N/A |
INTRINSIC |
|
Blast:WD40
|
576 |
615 |
2e-10 |
BLAST |
|
low complexity region
|
649 |
668 |
N/A |
INTRINSIC |
|
Blast:WD40
|
854 |
903 |
2e-10 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele exhibit abnormal branching morphogenesis of the placental labyrinth layer and are born as runts but catch up in size by adulthood. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
T |
C |
9: 122,947,991 (GRCm38) |
D124G |
probably benign |
Het |
| Adamts13 |
T |
A |
2: 26,989,283 (GRCm38) |
I616N |
possibly damaging |
Het |
| Adamts3 |
T |
C |
5: 89,706,647 (GRCm38) |
|
probably null |
Het |
| Amy1 |
T |
C |
3: 113,563,585 (GRCm38) |
I202V |
probably benign |
Het |
| Bdp1 |
G |
A |
13: 100,089,408 (GRCm38) |
T322I |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,353,020 (GRCm38) |
L110S |
probably damaging |
Het |
| Cep72 |
T |
C |
13: 74,050,154 (GRCm38) |
D369G |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,348,913 (GRCm38) |
|
probably benign |
Het |
| Ckmt2 |
G |
A |
13: 91,863,340 (GRCm38) |
|
probably benign |
Het |
| Cyp2s1 |
T |
C |
7: 25,808,137 (GRCm38) |
T296A |
probably damaging |
Het |
| E2f5 |
T |
A |
3: 14,603,897 (GRCm38) |
V283E |
probably benign |
Het |
| F5 |
A |
G |
1: 164,191,929 (GRCm38) |
T658A |
probably damaging |
Het |
| Fam102b |
A |
G |
3: 108,980,292 (GRCm38) |
Y219H |
probably damaging |
Het |
| Gml |
A |
T |
15: 74,816,440 (GRCm38) |
Y59* |
probably null |
Het |
| Kmo |
A |
T |
1: 175,649,323 (GRCm38) |
|
probably benign |
Het |
| Krt25 |
A |
T |
11: 99,322,572 (GRCm38) |
I107N |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,660,956 (GRCm38) |
C1741Y |
probably benign |
Het |
| Med12 |
T |
C |
X: 101,281,790 (GRCm38) |
V761A |
probably damaging |
Het |
| Mrpl19 |
T |
C |
6: 81,963,961 (GRCm38) |
T150A |
probably benign |
Het |
| Muc2 |
G |
T |
7: 141,751,872 (GRCm38) |
E646* |
probably null |
Het |
| Muc20 |
T |
A |
16: 32,794,681 (GRCm38) |
T109S |
unknown |
Het |
| Nr2f6 |
T |
C |
8: 71,374,512 (GRCm38) |
T382A |
probably benign |
Het |
| Nrap |
A |
G |
19: 56,382,309 (GRCm38) |
I172T |
probably damaging |
Het |
| Olfr1434 |
A |
G |
19: 12,283,498 (GRCm38) |
Y150C |
probably benign |
Het |
| Olfr911-ps1 |
T |
C |
9: 38,524,112 (GRCm38) |
C127R |
probably benign |
Het |
| P3h1 |
A |
T |
4: 119,247,955 (GRCm38) |
Q710L |
probably benign |
Het |
| Parvb |
A |
G |
15: 84,292,815 (GRCm38) |
H185R |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,522,759 (GRCm38) |
Y1710C |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,414,421 (GRCm38) |
I1970T |
probably damaging |
Het |
| Plxna2 |
C |
A |
1: 194,643,964 (GRCm38) |
R69S |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,456,929 (GRCm38) |
N284S |
possibly damaging |
Het |
| Reln |
T |
A |
5: 21,971,951 (GRCm38) |
S1906C |
possibly damaging |
Het |
| Rln1 |
T |
C |
19: 29,334,398 (GRCm38) |
R67G |
probably damaging |
Het |
| Shcbp1 |
C |
T |
8: 4,754,239 (GRCm38) |
V224I |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,283,237 (GRCm38) |
|
probably null |
Het |
| Stx6 |
A |
G |
1: 155,193,313 (GRCm38) |
E195G |
possibly damaging |
Het |
| Sult2b1 |
G |
T |
7: 45,742,085 (GRCm38) |
D90E |
possibly damaging |
Het |
| Taok1 |
A |
G |
11: 77,540,240 (GRCm38) |
|
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,352,510 (GRCm38) |
M566L |
probably benign |
Het |
| Tcaf1 |
C |
T |
6: 42,686,650 (GRCm38) |
A99T |
probably benign |
Het |
| Tcf20 |
T |
A |
15: 82,853,459 (GRCm38) |
M1264L |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,874,074 (GRCm38) |
V1571M |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,431,529 (GRCm38) |
|
probably benign |
Het |
| Ubr1 |
C |
A |
2: 120,970,603 (GRCm38) |
|
probably benign |
Het |
| Ulk1 |
T |
C |
5: 110,787,621 (GRCm38) |
D926G |
probably damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,583,771 (GRCm38) |
I181V |
probably benign |
Het |
| Vmn2r66 |
G |
A |
7: 85,006,812 (GRCm38) |
T332I |
probably damaging |
Het |
| Wdr1 |
C |
A |
5: 38,531,110 (GRCm38) |
D161Y |
probably damaging |
Het |
| Wnt7a |
T |
C |
6: 91,394,557 (GRCm38) |
Y141C |
probably damaging |
Het |
| Xrra1 |
G |
A |
7: 99,915,943 (GRCm38) |
E573K |
probably benign |
Het |
| Zfp334 |
G |
T |
2: 165,381,851 (GRCm38) |
Q91K |
possibly damaging |
Het |
|
| Other mutations in Llgl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00595:Llgl2
|
APN |
11 |
115,834,884 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01145:Llgl2
|
APN |
11 |
115,853,805 (GRCm38) |
missense |
probably benign |
|
|
IGL01344:Llgl2
|
APN |
11 |
115,851,193 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01980:Llgl2
|
APN |
11 |
115,850,025 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02220:Llgl2
|
APN |
11 |
115,845,379 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
IGL02341:Llgl2
|
APN |
11 |
115,851,120 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL02399:Llgl2
|
APN |
11 |
115,844,835 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02632:Llgl2
|
APN |
11 |
115,844,872 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02990:Llgl2
|
APN |
11 |
115,854,333 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03405:Llgl2
|
APN |
11 |
115,850,842 (GRCm38) |
missense |
probably benign |
0.09 |
|
R0097:Llgl2
|
UTSW |
11 |
115,844,497 (GRCm38) |
nonsense |
probably null |
|
|
R0166:Llgl2
|
UTSW |
11 |
115,844,854 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0277:Llgl2
|
UTSW |
11 |
115,850,720 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0323:Llgl2
|
UTSW |
11 |
115,850,720 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0345:Llgl2
|
UTSW |
11 |
115,849,992 (GRCm38) |
splice site |
probably benign |
|
|
R0614:Llgl2
|
UTSW |
11 |
115,850,267 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0980:Llgl2
|
UTSW |
11 |
115,850,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1387:Llgl2
|
UTSW |
11 |
115,853,132 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1456:Llgl2
|
UTSW |
11 |
115,845,499 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1541:Llgl2
|
UTSW |
11 |
115,853,121 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1832:Llgl2
|
UTSW |
11 |
115,851,100 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1950:Llgl2
|
UTSW |
11 |
115,851,066 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2991:Llgl2
|
UTSW |
11 |
115,851,120 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4018:Llgl2
|
UTSW |
11 |
115,847,612 (GRCm38) |
missense |
probably benign |
0.31 |
|
R4582:Llgl2
|
UTSW |
11 |
115,850,706 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R4729:Llgl2
|
UTSW |
11 |
115,848,299 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4907:Llgl2
|
UTSW |
11 |
115,853,974 (GRCm38) |
nonsense |
probably null |
|
|
R5000:Llgl2
|
UTSW |
11 |
115,844,902 (GRCm38) |
missense |
probably benign |
|
|
R5016:Llgl2
|
UTSW |
11 |
115,853,424 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5175:Llgl2
|
UTSW |
11 |
115,850,721 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5857:Llgl2
|
UTSW |
11 |
115,850,281 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6190:Llgl2
|
UTSW |
11 |
115,846,986 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6451:Llgl2
|
UTSW |
11 |
115,844,941 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6804:Llgl2
|
UTSW |
11 |
115,843,315 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6909:Llgl2
|
UTSW |
11 |
115,850,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7324:Llgl2
|
UTSW |
11 |
115,850,730 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R7332:Llgl2
|
UTSW |
11 |
115,848,299 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7715:Llgl2
|
UTSW |
11 |
115,849,728 (GRCm38) |
missense |
probably benign |
|
|
R8038:Llgl2
|
UTSW |
11 |
115,851,103 (GRCm38) |
missense |
probably benign |
0.17 |
|
R8069:Llgl2
|
UTSW |
11 |
115,853,286 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8076:Llgl2
|
UTSW |
11 |
115,846,929 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R8109:Llgl2
|
UTSW |
11 |
115,850,793 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R8129:Llgl2
|
UTSW |
11 |
115,850,911 (GRCm38) |
splice site |
probably null |
|
|
R8731:Llgl2
|
UTSW |
11 |
115,851,190 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8881:Llgl2
|
UTSW |
11 |
115,853,040 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9286:Llgl2
|
UTSW |
11 |
115,850,018 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9365:Llgl2
|
UTSW |
11 |
115,849,581 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9560:Llgl2
|
UTSW |
11 |
115,834,856 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9651:Llgl2
|
UTSW |
11 |
115,852,115 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9729:Llgl2
|
UTSW |
11 |
115,849,641 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0058:Llgl2
|
UTSW |
11 |
115,850,637 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Llgl2
|
UTSW |
11 |
115,849,554 (GRCm38) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation