Incidental Mutation 'R4995:Llgl1'
ID |
385195 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Llgl1
|
Ensembl Gene |
ENSMUSG00000020536 |
Gene Name |
LLGL1 scribble cell polarity complex component |
Synonyms |
Lgl1 |
MMRRC Submission |
042589-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4995 (G1)
|
Quality Score |
205 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
60590549-60605012 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 60600550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 633
(A633V)
|
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: A633V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000060749 Gene: ENSMUSG00000020536 AA Change: A633V
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: A633V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000104359 Gene: ENSMUSG00000020536 AA Change: A633V
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 |
0.1137 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
99% (86/87) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
G |
A |
2: 19,498,995 (GRCm39) |
Q333* |
probably null |
Het |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Acvrl1 |
G |
A |
15: 101,033,741 (GRCm39) |
R141H |
probably benign |
Het |
Adprm |
A |
G |
11: 66,932,436 (GRCm39) |
F158L |
possibly damaging |
Het |
Aldoart2 |
C |
T |
12: 55,613,038 (GRCm39) |
T321M |
probably benign |
Het |
Ap3m2 |
A |
G |
8: 23,293,792 (GRCm39) |
V86A |
probably benign |
Het |
Arhgef19 |
T |
A |
4: 140,974,826 (GRCm39) |
|
probably null |
Het |
Bcl2l12 |
T |
G |
7: 44,643,615 (GRCm39) |
|
probably null |
Het |
Bptf |
T |
C |
11: 106,945,391 (GRCm39) |
Q2501R |
probably damaging |
Het |
C230029F24Rik |
A |
T |
1: 49,377,295 (GRCm39) |
|
noncoding transcript |
Het |
C7 |
C |
T |
15: 5,079,074 (GRCm39) |
G78D |
probably damaging |
Het |
Caly |
T |
C |
7: 139,650,538 (GRCm39) |
T135A |
probably benign |
Het |
Cbl |
A |
G |
9: 44,065,108 (GRCm39) |
M740T |
possibly damaging |
Het |
Cbx4 |
A |
G |
11: 118,972,037 (GRCm39) |
V446A |
probably benign |
Het |
Celsr1 |
C |
A |
15: 85,822,112 (GRCm39) |
R1735L |
probably damaging |
Het |
Cep250 |
A |
G |
2: 155,830,236 (GRCm39) |
D135G |
probably damaging |
Het |
Cgn |
T |
C |
3: 94,687,246 (GRCm39) |
T19A |
probably damaging |
Het |
Chic2 |
A |
T |
5: 75,204,865 (GRCm39) |
V32D |
probably damaging |
Het |
Cntln |
A |
G |
4: 84,968,120 (GRCm39) |
K780E |
probably benign |
Het |
Col8a2 |
A |
T |
4: 126,204,581 (GRCm39) |
D197V |
probably damaging |
Het |
Crot |
A |
T |
5: 9,024,000 (GRCm39) |
V372E |
probably damaging |
Het |
Cyb561d2 |
C |
T |
9: 107,418,747 (GRCm39) |
V26M |
probably damaging |
Het |
Ddx5 |
G |
A |
11: 106,676,062 (GRCm39) |
T237I |
probably damaging |
Het |
Dmxl2 |
G |
T |
9: 54,408,725 (GRCm39) |
|
probably benign |
Het |
Dock8 |
T |
A |
19: 25,135,747 (GRCm39) |
S1188R |
probably benign |
Het |
Ehbp1 |
T |
A |
11: 22,051,073 (GRCm39) |
H493L |
probably damaging |
Het |
Eif5b |
T |
A |
1: 38,090,792 (GRCm39) |
*1217K |
probably null |
Het |
Eprs1 |
A |
G |
1: 185,142,336 (GRCm39) |
|
probably benign |
Het |
Etfdh |
T |
C |
3: 79,513,095 (GRCm39) |
D376G |
probably benign |
Het |
Fam186a |
T |
C |
15: 99,842,980 (GRCm39) |
Q1088R |
probably benign |
Het |
Fbxw16 |
G |
T |
9: 109,270,318 (GRCm39) |
T141N |
probably damaging |
Het |
Fgf11 |
G |
A |
11: 69,689,585 (GRCm39) |
H138Y |
probably damaging |
Het |
Htra3 |
T |
C |
5: 35,828,418 (GRCm39) |
E154G |
probably damaging |
Het |
Hydin |
T |
A |
8: 111,296,274 (GRCm39) |
V3601D |
probably damaging |
Het |
Jup |
G |
T |
11: 100,270,367 (GRCm39) |
S380* |
probably null |
Het |
Klrg1 |
T |
A |
6: 122,255,234 (GRCm39) |
D66V |
probably benign |
Het |
Lmln |
T |
A |
16: 32,894,467 (GRCm39) |
Y203* |
probably null |
Het |
Lrrc58 |
T |
G |
16: 37,697,418 (GRCm39) |
C165G |
probably benign |
Het |
Lss |
T |
C |
10: 76,383,371 (GRCm39) |
V557A |
probably benign |
Het |
Mast4 |
T |
C |
13: 103,042,262 (GRCm39) |
|
probably benign |
Het |
Med13l |
C |
A |
5: 118,869,014 (GRCm39) |
P754Q |
possibly damaging |
Het |
Mga |
C |
T |
2: 119,763,063 (GRCm39) |
R1240* |
probably null |
Het |
Mgat5b |
T |
A |
11: 116,865,025 (GRCm39) |
|
probably null |
Het |
Mtor |
A |
G |
4: 148,610,209 (GRCm39) |
D1572G |
probably damaging |
Het |
Muc4 |
T |
A |
16: 32,754,214 (GRCm38) |
S1363T |
probably benign |
Het |
Muc4 |
T |
A |
16: 32,575,332 (GRCm39) |
S1306T |
probably benign |
Het |
Myo18b |
A |
G |
5: 112,908,258 (GRCm39) |
V2005A |
probably damaging |
Het |
Myo1e |
G |
A |
9: 70,260,554 (GRCm39) |
D571N |
probably benign |
Het |
Mypn |
T |
C |
10: 62,955,747 (GRCm39) |
|
probably null |
Het |
Ndufb10 |
T |
C |
17: 24,941,731 (GRCm39) |
|
probably null |
Het |
Nelfb |
G |
T |
2: 25,096,208 (GRCm39) |
D300E |
probably benign |
Het |
Nicol1 |
G |
A |
5: 34,142,270 (GRCm39) |
R79H |
probably damaging |
Het |
Odad2 |
G |
A |
18: 7,223,663 (GRCm39) |
T460M |
probably damaging |
Het |
Or2y1d |
T |
A |
11: 49,321,482 (GRCm39) |
Y60N |
probably damaging |
Het |
Or4e5 |
A |
T |
14: 52,727,988 (GRCm39) |
C61* |
probably null |
Het |
Or52n2c |
T |
A |
7: 104,574,942 (GRCm39) |
T10S |
probably benign |
Het |
Or52z15 |
T |
A |
7: 103,332,574 (GRCm39) |
D206E |
probably damaging |
Het |
Pcdha11 |
C |
T |
18: 37,144,080 (GRCm39) |
T57M |
probably benign |
Het |
Pkp1 |
A |
T |
1: 135,808,593 (GRCm39) |
I458N |
possibly damaging |
Het |
Prr12 |
T |
A |
7: 44,700,653 (GRCm39) |
|
probably benign |
Het |
Prrc2c |
A |
T |
1: 162,532,879 (GRCm39) |
|
probably benign |
Het |
Psd4 |
T |
C |
2: 24,287,259 (GRCm39) |
F397S |
probably benign |
Het |
Pygm |
T |
C |
19: 6,448,169 (GRCm39) |
I737T |
probably damaging |
Het |
Rfx1 |
T |
A |
8: 84,806,743 (GRCm39) |
|
probably null |
Het |
Rsl1 |
A |
G |
13: 67,330,313 (GRCm39) |
T254A |
possibly damaging |
Het |
Sh3rf3 |
A |
G |
10: 58,922,646 (GRCm39) |
Q574R |
probably benign |
Het |
Spire1 |
T |
C |
18: 67,685,849 (GRCm39) |
|
probably null |
Het |
St6galnac4 |
G |
A |
2: 32,484,075 (GRCm39) |
G91D |
probably damaging |
Het |
Sytl2 |
T |
C |
7: 90,031,465 (GRCm39) |
|
probably benign |
Het |
Tbpl2 |
T |
A |
2: 23,983,872 (GRCm39) |
K188N |
possibly damaging |
Het |
Tenm3 |
A |
T |
8: 48,682,172 (GRCm39) |
M2486K |
possibly damaging |
Het |
Tgoln1 |
A |
C |
6: 72,593,123 (GRCm39) |
V119G |
possibly damaging |
Het |
Tpgs1 |
A |
T |
10: 79,505,325 (GRCm39) |
N28Y |
probably benign |
Het |
U2surp |
A |
C |
9: 95,344,847 (GRCm39) |
|
probably benign |
Het |
Vmn2r103 |
A |
G |
17: 19,993,773 (GRCm39) |
H50R |
probably benign |
Het |
Vmn2r19 |
A |
G |
6: 123,306,869 (GRCm39) |
N459S |
probably benign |
Het |
Vmn2r72 |
T |
C |
7: 85,387,693 (GRCm39) |
S624G |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,826,603 (GRCm39) |
T1415A |
probably benign |
Het |
Vwa5b1 |
G |
A |
4: 138,336,154 (GRCm39) |
P147S |
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 |
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'- ATCTTCTTCAGGATCGCGAGG -3'
(R):5'- TGGCCAAAGAATCATTGGGG -3'
Sequencing Primer
(F):5'- TTCACGTGGAAGGGTCACG -3'
(R):5'- TGGAGCTACACTGCACTCCTG -3'
|
Posted On |
2016-05-10 |