Incidental Mutation 'IGL02990:Llgl2'
ID |
406902 |
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: 0.676)
|
Stock # |
IGL02990
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
115714875-115746606 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 115745159 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 958
(M958V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099321
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093911]
[ENSMUST00000103032]
[ENSMUST00000177736]
|
AlphaFold |
Q3TJ91 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093911
|
SMART Domains |
Protein: ENSMUSP00000091439 Gene: ENSMUSG00000034427
Domain | Start | End | E-Value | Type |
MYSc
|
1 |
640 |
2.4e-134 |
SMART |
IQ
|
660 |
682 |
1.03e1 |
SMART |
Pfam:MyTH4
|
837 |
945 |
2.1e-23 |
PFAM |
low complexity region
|
1050 |
1068 |
N/A |
INTRINSIC |
low complexity region
|
1136 |
1170 |
N/A |
INTRINSIC |
low complexity region
|
1207 |
1246 |
N/A |
INTRINSIC |
low complexity region
|
1302 |
1327 |
N/A |
INTRINSIC |
low complexity region
|
1454 |
1468 |
N/A |
INTRINSIC |
low complexity region
|
1489 |
1509 |
N/A |
INTRINSIC |
SH3
|
1735 |
1792 |
1.15e-7 |
SMART |
Pfam:MyTH4
|
1928 |
2029 |
8.3e-25 |
PFAM |
B41
|
2032 |
2235 |
6.99e-4 |
SMART |
low complexity region
|
2243 |
2253 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103032
AA Change: M958V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000099321 Gene: ENSMUSG00000020782 AA Change: M958V
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 |
unknown
Transcript: ENSMUST00000128826
AA Change: M107V
|
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: M982V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000136054 Gene: ENSMUSG00000020782 AA Change: M982V
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12b |
G |
T |
11: 69,054,032 (GRCm39) |
V205F |
probably benign |
Het |
Ampd3 |
T |
C |
7: 110,407,170 (GRCm39) |
|
probably benign |
Het |
Arhgef18 |
G |
A |
8: 3,494,904 (GRCm39) |
V388I |
probably benign |
Het |
Atp6v1c2 |
C |
T |
12: 17,344,741 (GRCm39) |
V169I |
probably damaging |
Het |
Ccdc88b |
G |
T |
19: 6,824,777 (GRCm39) |
L1328I |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Cluh |
G |
A |
11: 74,558,591 (GRCm39) |
|
probably null |
Het |
Cpsf7 |
C |
A |
19: 10,509,159 (GRCm39) |
N23K |
probably benign |
Het |
Cyp4x1 |
A |
T |
4: 114,978,946 (GRCm39) |
F191L |
probably benign |
Het |
Dcn |
A |
G |
10: 97,345,835 (GRCm39) |
T216A |
probably benign |
Het |
Drosha |
C |
T |
15: 12,827,353 (GRCm39) |
|
probably benign |
Het |
Foxn4 |
A |
G |
5: 114,411,050 (GRCm39) |
S24P |
probably damaging |
Het |
Gm11733 |
A |
T |
11: 117,377,809 (GRCm39) |
|
probably null |
Het |
Hapln1 |
A |
C |
13: 89,749,725 (GRCm39) |
Y90S |
probably benign |
Het |
Igf2r |
C |
A |
17: 12,929,633 (GRCm39) |
|
probably benign |
Het |
Jade2 |
A |
G |
11: 51,722,074 (GRCm39) |
|
probably benign |
Het |
Kcnh7 |
A |
T |
2: 62,536,330 (GRCm39) |
L1084H |
probably benign |
Het |
Kif1a |
T |
C |
1: 92,966,985 (GRCm39) |
D1155G |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,271,740 (GRCm39) |
V4064A |
possibly damaging |
Het |
Mau2 |
A |
G |
8: 70,474,905 (GRCm39) |
|
probably benign |
Het |
Mllt10 |
T |
C |
2: 18,128,522 (GRCm39) |
|
probably benign |
Het |
Myo15a |
A |
G |
11: 60,370,266 (GRCm39) |
T1009A |
probably benign |
Het |
Myo6 |
T |
C |
9: 80,183,685 (GRCm39) |
|
probably null |
Het |
Neil2 |
G |
T |
14: 63,429,258 (GRCm39) |
H12N |
possibly damaging |
Het |
Nrde2 |
T |
C |
12: 100,108,355 (GRCm39) |
E412G |
probably damaging |
Het |
Or14j3 |
C |
T |
17: 37,900,559 (GRCm39) |
M228I |
probably benign |
Het |
Or4c115 |
T |
C |
2: 88,927,473 (GRCm39) |
Y266C |
possibly damaging |
Het |
Patl2 |
T |
G |
2: 121,954,978 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
T |
C |
1: 20,593,187 (GRCm39) |
H1642R |
possibly damaging |
Het |
Ppp6r1 |
A |
G |
7: 4,646,022 (GRCm39) |
I199T |
possibly damaging |
Het |
Prom2 |
T |
A |
2: 127,370,734 (GRCm39) |
T817S |
probably benign |
Het |
Slc49a4 |
C |
A |
16: 35,555,861 (GRCm39) |
V200F |
possibly damaging |
Het |
Slc9b1 |
A |
G |
3: 135,100,744 (GRCm39) |
|
probably null |
Het |
Sv2c |
A |
T |
13: 96,224,886 (GRCm39) |
I141K |
probably damaging |
Het |
Tas2r139 |
A |
T |
6: 42,118,038 (GRCm39) |
I57F |
probably damaging |
Het |
Tep1 |
A |
G |
14: 51,105,703 (GRCm39) |
S106P |
possibly damaging |
Het |
Tnni3k |
T |
C |
3: 154,663,395 (GRCm39) |
D319G |
probably benign |
Het |
Tom1l2 |
C |
T |
11: 60,121,062 (GRCm39) |
D461N |
probably damaging |
Het |
Ugt1a10 |
T |
C |
1: 87,983,601 (GRCm39) |
L133S |
probably damaging |
Het |
Usf2 |
T |
G |
7: 30,654,732 (GRCm39) |
Q161P |
probably benign |
Het |
Vmn1r15 |
A |
G |
6: 57,235,593 (GRCm39) |
T154A |
probably benign |
Het |
Vmn2r95 |
C |
A |
17: 18,672,298 (GRCm39) |
Y678* |
probably null |
Het |
|
Other mutations in Llgl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00595:Llgl2
|
APN |
11 |
115,725,710 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01145:Llgl2
|
APN |
11 |
115,744,631 (GRCm39) |
missense |
probably benign |
|
IGL01344:Llgl2
|
APN |
11 |
115,742,019 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01980:Llgl2
|
APN |
11 |
115,740,851 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02220:Llgl2
|
APN |
11 |
115,736,205 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02341:Llgl2
|
APN |
11 |
115,741,946 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL02399:Llgl2
|
APN |
11 |
115,735,661 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02415:Llgl2
|
APN |
11 |
115,744,111 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02632:Llgl2
|
APN |
11 |
115,735,698 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03405:Llgl2
|
APN |
11 |
115,741,668 (GRCm39) |
missense |
probably benign |
0.09 |
R0097:Llgl2
|
UTSW |
11 |
115,735,323 (GRCm39) |
nonsense |
probably null |
|
R0166:Llgl2
|
UTSW |
11 |
115,735,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R0277:Llgl2
|
UTSW |
11 |
115,741,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R0323:Llgl2
|
UTSW |
11 |
115,741,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R0345:Llgl2
|
UTSW |
11 |
115,740,818 (GRCm39) |
splice site |
probably benign |
|
R0614:Llgl2
|
UTSW |
11 |
115,741,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R0980:Llgl2
|
UTSW |
11 |
115,740,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R1387:Llgl2
|
UTSW |
11 |
115,743,958 (GRCm39) |
missense |
probably damaging |
0.99 |
R1456:Llgl2
|
UTSW |
11 |
115,736,325 (GRCm39) |
missense |
probably benign |
0.00 |
R1541:Llgl2
|
UTSW |
11 |
115,743,947 (GRCm39) |
missense |
probably benign |
0.00 |
R1832:Llgl2
|
UTSW |
11 |
115,741,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R1950:Llgl2
|
UTSW |
11 |
115,741,892 (GRCm39) |
missense |
probably damaging |
0.96 |
R2991:Llgl2
|
UTSW |
11 |
115,741,946 (GRCm39) |
missense |
probably benign |
0.05 |
R4018:Llgl2
|
UTSW |
11 |
115,738,438 (GRCm39) |
missense |
probably benign |
0.31 |
R4582:Llgl2
|
UTSW |
11 |
115,741,532 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4729:Llgl2
|
UTSW |
11 |
115,739,125 (GRCm39) |
missense |
probably damaging |
0.98 |
R4907:Llgl2
|
UTSW |
11 |
115,744,800 (GRCm39) |
nonsense |
probably null |
|
R5000:Llgl2
|
UTSW |
11 |
115,735,728 (GRCm39) |
missense |
probably benign |
|
R5016:Llgl2
|
UTSW |
11 |
115,744,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R5175:Llgl2
|
UTSW |
11 |
115,741,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R5857:Llgl2
|
UTSW |
11 |
115,741,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R6190:Llgl2
|
UTSW |
11 |
115,737,812 (GRCm39) |
missense |
probably benign |
0.00 |
R6451:Llgl2
|
UTSW |
11 |
115,735,767 (GRCm39) |
missense |
probably damaging |
0.99 |
R6804:Llgl2
|
UTSW |
11 |
115,734,141 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6909:Llgl2
|
UTSW |
11 |
115,741,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R7324:Llgl2
|
UTSW |
11 |
115,741,556 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7332:Llgl2
|
UTSW |
11 |
115,739,125 (GRCm39) |
missense |
probably damaging |
0.98 |
R7715:Llgl2
|
UTSW |
11 |
115,740,554 (GRCm39) |
missense |
probably benign |
|
R8038:Llgl2
|
UTSW |
11 |
115,741,929 (GRCm39) |
missense |
probably benign |
0.17 |
R8069:Llgl2
|
UTSW |
11 |
115,744,112 (GRCm39) |
missense |
probably damaging |
0.99 |
R8076:Llgl2
|
UTSW |
11 |
115,737,755 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8109:Llgl2
|
UTSW |
11 |
115,741,619 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8129:Llgl2
|
UTSW |
11 |
115,741,737 (GRCm39) |
splice site |
probably null |
|
R8731:Llgl2
|
UTSW |
11 |
115,742,016 (GRCm39) |
missense |
probably benign |
0.01 |
R8881:Llgl2
|
UTSW |
11 |
115,743,866 (GRCm39) |
missense |
probably benign |
0.02 |
R9286:Llgl2
|
UTSW |
11 |
115,740,844 (GRCm39) |
missense |
probably damaging |
0.99 |
R9365:Llgl2
|
UTSW |
11 |
115,740,407 (GRCm39) |
missense |
probably benign |
0.01 |
R9560:Llgl2
|
UTSW |
11 |
115,725,682 (GRCm39) |
missense |
probably damaging |
0.99 |
R9651:Llgl2
|
UTSW |
11 |
115,742,941 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9729:Llgl2
|
UTSW |
11 |
115,740,467 (GRCm39) |
missense |
probably damaging |
1.00 |
X0058:Llgl2
|
UTSW |
11 |
115,741,463 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Llgl2
|
UTSW |
11 |
115,740,380 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2016-08-02 |