Incidental Mutation 'R9234:Llgl1'
ID |
700993 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Llgl1
|
Ensembl Gene |
ENSMUSG00000020536 |
Gene Name |
LLGL1 scribble cell polarity complex component |
Synonyms |
Lgl1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9234 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
60590549-60605012 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 60600956 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060749
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002889]
[ENSMUST00000052346]
[ENSMUST00000108719]
|
AlphaFold |
Q80Y17 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002889
|
SMART Domains |
Protein: ENSMUSP00000002889 Gene: ENSMUSG00000002812
Domain | Start | End | E-Value | Type |
LRR
|
55 |
78 |
1.08e-1 |
SMART |
LRR
|
103 |
126 |
4.08e0 |
SMART |
LRR
|
127 |
149 |
2.27e1 |
SMART |
LRR
|
150 |
173 |
1.25e-1 |
SMART |
LRR
|
222 |
244 |
6.78e1 |
SMART |
LRR
|
245 |
268 |
2.86e-1 |
SMART |
LRR
|
269 |
291 |
3.78e-1 |
SMART |
LRR
|
316 |
339 |
2.82e0 |
SMART |
LRR
|
340 |
362 |
2.27e2 |
SMART |
low complexity region
|
403 |
420 |
N/A |
INTRINSIC |
GEL
|
499 |
597 |
4.17e-25 |
SMART |
GEL
|
617 |
709 |
1.72e-26 |
SMART |
low complexity region
|
727 |
740 |
N/A |
INTRINSIC |
GEL
|
745 |
838 |
2.24e-25 |
SMART |
GEL
|
905 |
1039 |
1.13e-3 |
SMART |
GEL
|
1056 |
1152 |
7.28e-16 |
SMART |
GEL
|
1167 |
1263 |
5.51e-25 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000052346
|
SMART Domains |
Protein: ENSMUSP00000060749 Gene: ENSMUSG00000020536
Domain | Start | End | E-Value | Type |
WD40
|
22 |
62 |
4.42e1 |
SMART |
WD40
|
64 |
103 |
1.65e1 |
SMART |
WD40
|
187 |
223 |
2.74e2 |
SMART |
WD40
|
226 |
264 |
2.06e0 |
SMART |
Pfam:LLGL
|
278 |
379 |
1.2e-43 |
PFAM |
WD40
|
424 |
460 |
3.2e0 |
SMART |
Blast:WD40
|
498 |
541 |
2e-13 |
BLAST |
Blast:WD40
|
585 |
624 |
4e-9 |
BLAST |
Pfam:Lgl_C
|
732 |
978 |
1.2e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108719
|
SMART Domains |
Protein: ENSMUSP00000104359 Gene: ENSMUSG00000020536
Domain | Start | End | E-Value | Type |
WD40
|
22 |
62 |
4.42e1 |
SMART |
WD40
|
64 |
103 |
1.65e1 |
SMART |
WD40
|
187 |
223 |
2.74e2 |
SMART |
WD40
|
226 |
264 |
2.06e0 |
SMART |
Pfam:LLGL
|
275 |
379 |
2e-48 |
PFAM |
WD40
|
424 |
460 |
3.2e0 |
SMART |
Blast:WD40
|
498 |
540 |
2e-13 |
BLAST |
Blast:WD40
|
585 |
624 |
4e-9 |
BLAST |
Pfam:Lgl_C
|
804 |
976 |
1.3e-8 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutant mice die neonatally exhibiting hydroencephaly. Neural progenitor cell physiology is abnormal, resulting in a loss of cell polarity and the development of neuroepithelial rosette-like structures throughout the brain. [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 |
6430550D23Rik |
A |
G |
2: 155,845,798 (GRCm39) |
Y20H |
probably benign |
Het |
Arid5b |
A |
G |
10: 67,964,628 (GRCm39) |
F348L |
possibly damaging |
Het |
Bms1 |
C |
A |
6: 118,375,044 (GRCm39) |
A777S |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,049,012 (GRCm39) |
Y61C |
|
Het |
Caprin2 |
A |
T |
6: 148,744,337 (GRCm39) |
Y1029* |
probably null |
Het |
Casp1 |
A |
T |
9: 5,303,128 (GRCm39) |
D194V |
probably benign |
Het |
Crkl |
A |
G |
16: 17,286,822 (GRCm39) |
E126G |
probably damaging |
Het |
Crp |
A |
T |
1: 172,526,413 (GRCm39) |
D166V |
probably damaging |
Het |
Dnah10 |
A |
C |
5: 124,818,989 (GRCm39) |
D425A |
possibly damaging |
Het |
Dnah11 |
A |
T |
12: 117,951,095 (GRCm39) |
L3071Q |
probably damaging |
Het |
Dnah9 |
T |
A |
11: 65,924,751 (GRCm39) |
I2168F |
possibly damaging |
Het |
Elp3 |
T |
A |
14: 65,788,920 (GRCm39) |
I388F |
probably damaging |
Het |
Espn |
C |
A |
4: 152,217,380 (GRCm39) |
|
probably null |
Het |
Fbrsl1 |
G |
T |
5: 110,511,250 (GRCm39) |
F504L |
probably benign |
Het |
Fzd9 |
A |
C |
5: 135,279,540 (GRCm39) |
M115R |
probably damaging |
Het |
Git2 |
A |
T |
5: 114,899,682 (GRCm39) |
Y224N |
possibly damaging |
Het |
Gm9195 |
A |
T |
14: 72,695,786 (GRCm39) |
Y1415* |
probably null |
Het |
Gnpat |
T |
A |
8: 125,610,179 (GRCm39) |
L454Q |
probably damaging |
Het |
Grm5 |
C |
T |
7: 87,723,440 (GRCm39) |
P577S |
probably damaging |
Het |
Hfm1 |
T |
C |
5: 107,041,334 (GRCm39) |
N683S |
probably benign |
Het |
Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
Leng8 |
C |
A |
7: 4,145,247 (GRCm39) |
P216T |
probably damaging |
Het |
Letm2 |
C |
A |
8: 26,084,102 (GRCm39) |
R43L |
probably benign |
Het |
Lims2 |
A |
T |
18: 32,090,943 (GRCm39) |
Y309F |
probably benign |
Het |
Ltn1 |
A |
T |
16: 87,194,089 (GRCm39) |
D1417E |
probably damaging |
Het |
Map4k4 |
T |
A |
1: 40,029,261 (GRCm39) |
N345K |
unknown |
Het |
Mapre2 |
T |
C |
18: 23,937,236 (GRCm39) |
I26T |
probably benign |
Het |
Nfe2 |
A |
G |
15: 103,159,636 (GRCm39) |
|
probably benign |
Het |
Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,695,622 (GRCm39) |
|
probably null |
Het |
Or51b6b |
T |
A |
7: 103,309,950 (GRCm39) |
Y169F |
possibly damaging |
Het |
Or52e18 |
A |
G |
7: 104,609,651 (GRCm39) |
F96S |
probably damaging |
Het |
Or5h19 |
T |
C |
16: 58,856,789 (GRCm39) |
N104D |
probably benign |
Het |
Otud7b |
G |
T |
3: 96,047,771 (GRCm39) |
Q43H |
probably damaging |
Het |
Pcdhb5 |
T |
C |
18: 37,453,695 (GRCm39) |
V25A |
probably benign |
Het |
Pcolce2 |
A |
G |
9: 95,560,439 (GRCm39) |
T163A |
probably benign |
Het |
Pdgfra |
T |
A |
5: 75,324,262 (GRCm39) |
V39E |
possibly damaging |
Het |
Pdgfrb |
T |
A |
18: 61,194,300 (GRCm39) |
W26R |
probably null |
Het |
Pigp |
T |
A |
16: 94,165,522 (GRCm39) |
*206Y |
probably null |
Het |
Pip5kl1 |
G |
T |
2: 32,468,211 (GRCm39) |
G126C |
probably benign |
Het |
Plekhg2 |
G |
T |
7: 28,064,215 (GRCm39) |
T442K |
probably benign |
Het |
Prmt5 |
A |
T |
14: 54,748,674 (GRCm39) |
S375T |
possibly damaging |
Het |
Rnf213 |
T |
A |
11: 119,340,943 (GRCm39) |
M3529K |
|
Het |
Ror2 |
C |
A |
13: 53,265,374 (GRCm39) |
D573Y |
probably damaging |
Het |
Shank1 |
A |
G |
7: 43,962,579 (GRCm39) |
T98A |
unknown |
Het |
Shcbp1 |
A |
T |
8: 4,798,800 (GRCm39) |
I373K |
possibly damaging |
Het |
Slc25a42 |
A |
G |
8: 70,642,736 (GRCm39) |
S64P |
probably damaging |
Het |
Smco3 |
T |
A |
6: 136,808,410 (GRCm39) |
I155F |
probably damaging |
Het |
Snx4 |
C |
A |
16: 33,087,161 (GRCm39) |
S102* |
probably null |
Het |
Snx4 |
T |
A |
16: 33,108,069 (GRCm39) |
S288T |
probably benign |
Het |
Socs4 |
A |
G |
14: 47,527,716 (GRCm39) |
N217S |
probably benign |
Het |
Tatdn2 |
G |
A |
6: 113,679,683 (GRCm39) |
|
probably null |
Het |
Tmprss2 |
A |
G |
16: 97,379,821 (GRCm39) |
Y160H |
probably damaging |
Het |
Trim37 |
T |
C |
11: 87,036,393 (GRCm39) |
I158T |
possibly damaging |
Het |
Trip11 |
C |
T |
12: 101,811,990 (GRCm39) |
|
probably null |
Het |
Ubr3 |
G |
A |
2: 69,727,990 (GRCm39) |
A118T |
probably benign |
Het |
Ubxn7 |
T |
C |
16: 32,178,895 (GRCm39) |
|
probably null |
Het |
Unc5cl |
C |
T |
17: 48,770,658 (GRCm39) |
H369Y |
probably damaging |
Het |
Unc5d |
A |
T |
8: 29,250,877 (GRCm39) |
N263K |
probably damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,661,907 (GRCm39) |
I636T |
possibly damaging |
Het |
Vps13d |
G |
T |
4: 144,875,792 (GRCm39) |
Q1578K |
|
Het |
Wnk2 |
T |
C |
13: 49,224,274 (GRCm39) |
D1171G |
probably damaging |
Het |
Zfpm2 |
A |
G |
15: 40,966,470 (GRCm39) |
Y985C |
probably damaging |
Het |
Zpbp2 |
A |
T |
11: 98,443,398 (GRCm39) |
N77I |
probably damaging |
Het |
|
Other mutations in Llgl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01137:Llgl1
|
APN |
11 |
60,600,825 (GRCm39) |
missense |
probably benign |
0.38 |
IGL01400:Llgl1
|
APN |
11 |
60,597,316 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03066:Llgl1
|
APN |
11 |
60,596,860 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL03174:Llgl1
|
APN |
11 |
60,597,036 (GRCm39) |
missense |
probably benign |
0.15 |
IGL03306:Llgl1
|
APN |
11 |
60,602,180 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0284:Llgl1
|
UTSW |
11 |
60,602,967 (GRCm39) |
missense |
probably damaging |
0.98 |
R1137:Llgl1
|
UTSW |
11 |
60,595,559 (GRCm39) |
missense |
probably benign |
0.01 |
R1432:Llgl1
|
UTSW |
11 |
60,599,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R1769:Llgl1
|
UTSW |
11 |
60,597,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R1786:Llgl1
|
UTSW |
11 |
60,598,066 (GRCm39) |
missense |
probably benign |
0.19 |
R1835:Llgl1
|
UTSW |
11 |
60,595,556 (GRCm39) |
missense |
probably benign |
0.00 |
R1943:Llgl1
|
UTSW |
11 |
60,596,842 (GRCm39) |
missense |
probably benign |
|
R2197:Llgl1
|
UTSW |
11 |
60,600,865 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2510:Llgl1
|
UTSW |
11 |
60,600,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R2568:Llgl1
|
UTSW |
11 |
60,599,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R3690:Llgl1
|
UTSW |
11 |
60,597,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R3853:Llgl1
|
UTSW |
11 |
60,598,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R4079:Llgl1
|
UTSW |
11 |
60,601,110 (GRCm39) |
splice site |
probably null |
|
R4259:Llgl1
|
UTSW |
11 |
60,600,394 (GRCm39) |
missense |
probably benign |
|
R4348:Llgl1
|
UTSW |
11 |
60,600,394 (GRCm39) |
missense |
probably benign |
|
R4349:Llgl1
|
UTSW |
11 |
60,600,394 (GRCm39) |
missense |
probably benign |
|
R4352:Llgl1
|
UTSW |
11 |
60,600,394 (GRCm39) |
missense |
probably benign |
|
R4353:Llgl1
|
UTSW |
11 |
60,600,394 (GRCm39) |
missense |
probably benign |
|
R4396:Llgl1
|
UTSW |
11 |
60,596,834 (GRCm39) |
missense |
probably benign |
|
R4584:Llgl1
|
UTSW |
11 |
60,602,908 (GRCm39) |
missense |
probably damaging |
0.99 |
R4594:Llgl1
|
UTSW |
11 |
60,597,147 (GRCm39) |
missense |
probably benign |
0.15 |
R4628:Llgl1
|
UTSW |
11 |
60,600,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R4651:Llgl1
|
UTSW |
11 |
60,599,477 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4653:Llgl1
|
UTSW |
11 |
60,599,477 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4731:Llgl1
|
UTSW |
11 |
60,597,051 (GRCm39) |
nonsense |
probably null |
|
R4869:Llgl1
|
UTSW |
11 |
60,598,036 (GRCm39) |
nonsense |
probably null |
|
R4898:Llgl1
|
UTSW |
11 |
60,600,394 (GRCm39) |
missense |
probably benign |
|
R4899:Llgl1
|
UTSW |
11 |
60,600,394 (GRCm39) |
missense |
probably benign |
|
R4939:Llgl1
|
UTSW |
11 |
60,600,805 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4941:Llgl1
|
UTSW |
11 |
60,600,394 (GRCm39) |
missense |
probably benign |
|
R4942:Llgl1
|
UTSW |
11 |
60,600,394 (GRCm39) |
missense |
probably benign |
|
R4958:Llgl1
|
UTSW |
11 |
60,602,261 (GRCm39) |
missense |
probably benign |
0.02 |
R4995:Llgl1
|
UTSW |
11 |
60,600,550 (GRCm39) |
missense |
probably benign |
0.00 |
R4997:Llgl1
|
UTSW |
11 |
60,600,394 (GRCm39) |
missense |
probably benign |
|
R5177:Llgl1
|
UTSW |
11 |
60,602,833 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5257:Llgl1
|
UTSW |
11 |
60,602,389 (GRCm39) |
splice site |
probably null |
|
R5258:Llgl1
|
UTSW |
11 |
60,602,389 (GRCm39) |
splice site |
probably null |
|
R5401:Llgl1
|
UTSW |
11 |
60,597,297 (GRCm39) |
missense |
probably benign |
|
R5406:Llgl1
|
UTSW |
11 |
60,604,010 (GRCm39) |
missense |
probably damaging |
0.99 |
R5432:Llgl1
|
UTSW |
11 |
60,598,449 (GRCm39) |
missense |
probably benign |
|
R5587:Llgl1
|
UTSW |
11 |
60,601,168 (GRCm39) |
missense |
probably benign |
0.00 |
R5732:Llgl1
|
UTSW |
11 |
60,600,286 (GRCm39) |
missense |
probably benign |
0.00 |
R5758:Llgl1
|
UTSW |
11 |
60,599,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R5879:Llgl1
|
UTSW |
11 |
60,603,806 (GRCm39) |
missense |
probably benign |
0.00 |
R6268:Llgl1
|
UTSW |
11 |
60,602,989 (GRCm39) |
missense |
probably benign |
0.13 |
R6286:Llgl1
|
UTSW |
11 |
60,600,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R6455:Llgl1
|
UTSW |
11 |
60,600,486 (GRCm39) |
missense |
probably damaging |
0.98 |
R6805:Llgl1
|
UTSW |
11 |
60,593,691 (GRCm39) |
missense |
probably benign |
0.25 |
R6929:Llgl1
|
UTSW |
11 |
60,601,179 (GRCm39) |
nonsense |
probably null |
|
R7274:Llgl1
|
UTSW |
11 |
60,596,812 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7889:Llgl1
|
UTSW |
11 |
60,598,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R7986:Llgl1
|
UTSW |
11 |
60,602,221 (GRCm39) |
missense |
probably benign |
0.16 |
R8141:Llgl1
|
UTSW |
11 |
60,601,142 (GRCm39) |
missense |
probably benign |
0.02 |
R8176:Llgl1
|
UTSW |
11 |
60,597,387 (GRCm39) |
missense |
probably benign |
0.27 |
R8223:Llgl1
|
UTSW |
11 |
60,593,648 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8332:Llgl1
|
UTSW |
11 |
60,601,210 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8350:Llgl1
|
UTSW |
11 |
60,602,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R8500:Llgl1
|
UTSW |
11 |
60,595,809 (GRCm39) |
critical splice donor site |
probably null |
|
R8979:Llgl1
|
UTSW |
11 |
60,601,129 (GRCm39) |
missense |
probably benign |
0.25 |
R9155:Llgl1
|
UTSW |
11 |
60,597,934 (GRCm39) |
missense |
probably benign |
0.00 |
R9163:Llgl1
|
UTSW |
11 |
60,600,402 (GRCm39) |
missense |
probably benign |
0.02 |
R9225:Llgl1
|
UTSW |
11 |
60,600,889 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Llgl1
|
UTSW |
11 |
60,603,923 (GRCm39) |
frame shift |
probably null |
|
Z1187:Llgl1
|
UTSW |
11 |
60,603,923 (GRCm39) |
frame shift |
probably null |
|
Z1188:Llgl1
|
UTSW |
11 |
60,603,923 (GRCm39) |
frame shift |
probably null |
|
Z1189:Llgl1
|
UTSW |
11 |
60,603,923 (GRCm39) |
frame shift |
probably null |
|
Z1190:Llgl1
|
UTSW |
11 |
60,603,923 (GRCm39) |
frame shift |
probably null |
|
Z1191:Llgl1
|
UTSW |
11 |
60,603,923 (GRCm39) |
frame shift |
probably null |
|
Z1192:Llgl1
|
UTSW |
11 |
60,603,923 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGAGTGCAGTGTAGCTCCATAG -3'
(R):5'- TAGAGGCAGCGTACAACACC -3'
Sequencing Primer
(F):5'- ATAGCACAGTTGGCCCTGTC -3'
(R):5'- TCAGCAGACCGAGGCTCAATG -3'
|
Posted On |
2022-03-25 |