Incidental Mutation 'R4352:Llgl1'
ID |
327356 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Llgl1
|
Ensembl Gene |
ENSMUSG00000020536 |
Gene Name |
LLGL1 scribble cell polarity complex component |
Synonyms |
Lgl1 |
MMRRC Submission |
041668-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4352 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
60590549-60605012 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 60600394 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 581
(P581L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104359
(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 benign
Transcript: ENSMUST00000052346
AA Change: P581L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000060749 Gene: ENSMUSG00000020536 AA Change: P581L
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
AA Change: P581L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000104359 Gene: ENSMUSG00000020536 AA Change: P581L
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128749
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154141
|
Meta Mutation Damage Score |
0.0616 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
96% (79/82) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Abtb2 |
T |
A |
2: 103,513,738 (GRCm39) |
D382E |
possibly damaging |
Het |
Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
Ankrd54 |
A |
T |
15: 78,939,662 (GRCm39) |
F176I |
probably benign |
Het |
Ano3 |
T |
A |
2: 110,576,239 (GRCm39) |
E94V |
possibly damaging |
Het |
Arid1b |
A |
T |
17: 5,147,859 (GRCm39) |
Q587L |
possibly damaging |
Het |
Atg2a |
G |
A |
19: 6,307,487 (GRCm39) |
V1474M |
probably benign |
Het |
Bcl2a1d |
A |
G |
9: 88,613,552 (GRCm39) |
V74A |
probably damaging |
Het |
Bmper |
A |
G |
9: 23,395,248 (GRCm39) |
I660V |
probably benign |
Het |
Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
Cds2 |
T |
A |
2: 132,105,365 (GRCm39) |
M1K |
probably null |
Het |
Ctr9 |
T |
A |
7: 110,648,525 (GRCm39) |
Y722N |
probably damaging |
Het |
Ddx47 |
C |
T |
6: 134,995,018 (GRCm39) |
T161I |
probably benign |
Het |
Dvl3 |
T |
C |
16: 20,344,394 (GRCm39) |
Y257H |
possibly damaging |
Het |
Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
Efcab3 |
T |
A |
11: 104,630,140 (GRCm39) |
L957Q |
probably null |
Het |
Emilin2 |
T |
C |
17: 71,587,726 (GRCm39) |
M129V |
probably benign |
Het |
Eml1 |
A |
T |
12: 108,501,096 (GRCm39) |
|
probably benign |
Het |
Espnl |
A |
T |
1: 91,262,443 (GRCm39) |
D296V |
probably damaging |
Het |
Fam161a |
T |
G |
11: 22,970,798 (GRCm39) |
S109R |
possibly damaging |
Het |
Fat3 |
T |
G |
9: 16,158,074 (GRCm39) |
T1179P |
possibly damaging |
Het |
Gfra1 |
A |
T |
19: 58,255,456 (GRCm39) |
N330K |
probably benign |
Het |
Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
Gm20775 |
A |
T |
Y: 10,641,648 (GRCm39) |
|
noncoding transcript |
Het |
Gm5885 |
T |
A |
6: 133,508,152 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch11 |
T |
C |
17: 79,148,446 (GRCm39) |
L128P |
probably damaging |
Het |
H2-Q1 |
A |
G |
17: 35,539,919 (GRCm39) |
N63D |
possibly damaging |
Het |
Itgb2 |
A |
T |
10: 77,392,001 (GRCm39) |
N358I |
probably benign |
Het |
Jmjd1c |
A |
G |
10: 67,080,588 (GRCm39) |
T2247A |
probably damaging |
Het |
Kcnma1 |
T |
A |
14: 23,361,720 (GRCm39) |
K1036I |
probably damaging |
Het |
Lrch1 |
G |
T |
14: 75,056,018 (GRCm39) |
S278R |
probably damaging |
Het |
Lrp2 |
C |
A |
2: 69,262,526 (GRCm39) |
|
probably null |
Het |
Lyn |
G |
A |
4: 3,789,796 (GRCm39) |
R443H |
probably damaging |
Het |
Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
Mpzl1 |
G |
A |
1: 165,433,376 (GRCm39) |
Q36* |
probably null |
Het |
Msantd5 |
A |
G |
11: 51,125,646 (GRCm39) |
N190D |
possibly damaging |
Het |
Npr2 |
T |
C |
4: 43,646,592 (GRCm39) |
S647P |
probably damaging |
Het |
Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
Otogl |
A |
T |
10: 107,705,396 (GRCm39) |
C644S |
probably damaging |
Het |
Pabpc4 |
C |
T |
4: 123,184,060 (GRCm39) |
T191I |
probably damaging |
Het |
Paqr3 |
T |
C |
5: 97,247,455 (GRCm39) |
T218A |
probably benign |
Het |
Pcdh7 |
C |
T |
5: 57,879,361 (GRCm39) |
S972L |
possibly damaging |
Het |
Pcnx2 |
T |
C |
8: 126,489,590 (GRCm39) |
H1668R |
probably damaging |
Het |
Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
Ralb |
A |
G |
1: 119,411,282 (GRCm39) |
M19T |
probably benign |
Het |
Rcan1 |
A |
G |
16: 92,190,384 (GRCm39) |
I185T |
probably benign |
Het |
Rnf38 |
A |
T |
4: 44,149,100 (GRCm39) |
N82K |
possibly damaging |
Het |
Rock1 |
T |
A |
18: 10,079,237 (GRCm39) |
Q1077L |
probably damaging |
Het |
Sesn3 |
C |
T |
9: 14,231,669 (GRCm39) |
A200V |
probably damaging |
Het |
Shh |
T |
C |
5: 28,663,187 (GRCm39) |
E327G |
probably benign |
Het |
Shmt2 |
G |
A |
10: 127,354,686 (GRCm39) |
A333V |
probably damaging |
Het |
Slc15a2 |
T |
A |
16: 36,592,390 (GRCm39) |
I256F |
probably benign |
Het |
Sptbn5 |
T |
C |
2: 119,913,680 (GRCm39) |
|
noncoding transcript |
Het |
Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
Taf10 |
A |
G |
7: 105,392,614 (GRCm39) |
|
probably benign |
Het |
Tas2r139 |
T |
A |
6: 42,118,689 (GRCm39) |
W274R |
probably damaging |
Het |
Tbc1d20 |
T |
A |
2: 152,150,114 (GRCm39) |
|
probably benign |
Het |
Tbc1d5 |
A |
G |
17: 51,089,429 (GRCm39) |
S584P |
probably damaging |
Het |
Tcstv1a |
T |
C |
13: 120,355,407 (GRCm39) |
D75G |
probably damaging |
Het |
Tex10 |
T |
G |
4: 48,452,039 (GRCm39) |
T696P |
possibly damaging |
Het |
Tgfbr1 |
T |
C |
4: 47,402,863 (GRCm39) |
F206S |
probably damaging |
Het |
Tmem241 |
A |
T |
18: 12,246,496 (GRCm39) |
H51Q |
probably benign |
Het |
Trim5 |
A |
T |
7: 103,926,015 (GRCm39) |
V182D |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Txnl1 |
A |
G |
18: 63,804,750 (GRCm39) |
V248A |
possibly damaging |
Het |
Ubr5 |
A |
G |
15: 38,041,817 (GRCm39) |
V204A |
probably benign |
Het |
Ugp2 |
C |
T |
11: 21,279,026 (GRCm39) |
V387I |
probably damaging |
Het |
Unc45b |
G |
A |
11: 82,804,035 (GRCm39) |
D71N |
probably damaging |
Het |
Usp34 |
A |
T |
11: 23,270,727 (GRCm39) |
Y37F |
possibly damaging |
Het |
Zfp943 |
A |
T |
17: 22,212,104 (GRCm39) |
I397F |
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 |
|
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 |
R9234:Llgl1
|
UTSW |
11 |
60,600,956 (GRCm39) |
critical splice donor site |
probably null |
|
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'- CTCAGTGAAGGCTTTGGTACATTG -3'
(R):5'- ACCTCGTGCCACATACCTAG -3'
Sequencing Primer
(F):5'- ACATTGTAGGTATTCAGGGGCC -3'
(R):5'- TACCTAGCCAGCACAGGG -3'
|
Posted On |
2015-07-07 |