Incidental Mutation 'R4584:Llgl1'
ID |
343938 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Llgl1
|
Ensembl Gene |
ENSMUSG00000020536 |
Gene Name |
LLGL1 scribble cell polarity complex component |
Synonyms |
Lgl1 |
MMRRC Submission |
041805-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4584 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
60590549-60605012 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 60602908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 861
(L861Q)
|
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 damaging
Transcript: ENSMUST00000052346
AA Change: L861Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000060749 Gene: ENSMUSG00000020536 AA Change: L861Q
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 damaging
Transcript: ENSMUST00000108719
AA Change: L861Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104359 Gene: ENSMUSG00000020536 AA Change: L861Q
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: ENSMUST00000154141
|
Meta Mutation Damage Score |
0.8055 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
97% (86/89) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430548M08Rik |
A |
G |
8: 120,886,756 (GRCm39) |
N343D |
probably damaging |
Het |
9530002B09Rik |
T |
A |
4: 122,594,979 (GRCm39) |
D78E |
possibly damaging |
Het |
A2m |
C |
A |
6: 121,634,365 (GRCm39) |
D632E |
probably benign |
Het |
Alpk2 |
A |
G |
18: 65,440,035 (GRCm39) |
S453P |
probably damaging |
Het |
Birc2 |
A |
T |
9: 7,833,675 (GRCm39) |
F269I |
probably damaging |
Het |
Ccdc66 |
G |
A |
14: 27,222,468 (GRCm39) |
P92S |
probably benign |
Het |
Cdc34 |
T |
A |
10: 79,523,869 (GRCm39) |
D108E |
possibly damaging |
Het |
Cdk5rap2 |
A |
C |
4: 70,184,997 (GRCm39) |
V1151G |
probably damaging |
Het |
Cemip |
T |
C |
7: 83,607,747 (GRCm39) |
K753R |
probably damaging |
Het |
Cep295 |
A |
T |
9: 15,246,095 (GRCm39) |
L787Q |
possibly damaging |
Het |
Cideb |
T |
C |
14: 55,995,727 (GRCm39) |
N8S |
probably benign |
Het |
Dagla |
A |
G |
19: 10,248,373 (GRCm39) |
Y96H |
probably damaging |
Het |
Dapl1 |
C |
A |
2: 59,335,086 (GRCm39) |
T80K |
possibly damaging |
Het |
Ddx6 |
T |
C |
9: 44,535,784 (GRCm39) |
V171A |
probably damaging |
Het |
Dnah12 |
C |
A |
14: 26,494,551 (GRCm39) |
T34K |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,327,256 (GRCm39) |
L735P |
probably damaging |
Het |
Ep400 |
T |
A |
5: 110,881,763 (GRCm39) |
|
probably benign |
Het |
Erlin1 |
G |
T |
19: 44,057,758 (GRCm39) |
Y22* |
probably null |
Het |
Gmcl1 |
A |
G |
6: 86,699,605 (GRCm39) |
S141P |
probably damaging |
Het |
Gtf2a1 |
C |
T |
12: 91,529,700 (GRCm39) |
V338I |
possibly damaging |
Het |
H2-T15 |
A |
T |
17: 36,368,559 (GRCm39) |
M123K |
probably damaging |
Het |
Ighv1-66 |
T |
A |
12: 115,557,016 (GRCm39) |
Q22L |
possibly damaging |
Het |
Igkv4-80 |
T |
C |
6: 68,993,720 (GRCm39) |
Y57C |
probably damaging |
Het |
Itpk1 |
G |
A |
12: 102,536,416 (GRCm39) |
A410V |
possibly damaging |
Het |
Itsn1 |
T |
A |
16: 91,617,471 (GRCm39) |
|
probably benign |
Het |
Kcnk3 |
G |
T |
5: 30,745,730 (GRCm39) |
A24S |
probably damaging |
Het |
Kif20a |
A |
G |
18: 34,765,664 (GRCm39) |
Y887C |
probably damaging |
Het |
Klf13 |
T |
C |
7: 63,587,718 (GRCm39) |
T193A |
possibly damaging |
Het |
Klhl9 |
G |
T |
4: 88,640,144 (GRCm39) |
H32Q |
probably damaging |
Het |
Kndc1 |
C |
G |
7: 139,481,159 (GRCm39) |
P82A |
probably damaging |
Het |
Lpcat2 |
A |
G |
8: 93,615,999 (GRCm39) |
E305G |
probably damaging |
Het |
Mib2 |
C |
A |
4: 155,741,744 (GRCm39) |
A293S |
probably damaging |
Het |
Mtfr1 |
A |
G |
3: 19,269,766 (GRCm39) |
E138G |
probably damaging |
Het |
Myoz1 |
A |
G |
14: 20,700,663 (GRCm39) |
W185R |
probably damaging |
Het |
Ninj1 |
T |
A |
13: 49,347,442 (GRCm39) |
|
probably null |
Het |
Nlgn2 |
A |
T |
11: 69,725,104 (GRCm39) |
V54E |
possibly damaging |
Het |
Nlrc5 |
A |
C |
8: 95,203,903 (GRCm39) |
I668L |
probably damaging |
Het |
Npy6r |
T |
A |
18: 44,409,262 (GRCm39) |
C228S |
probably damaging |
Het |
Nufip2 |
T |
C |
11: 77,632,554 (GRCm39) |
V690A |
unknown |
Het |
Nup107 |
T |
C |
10: 117,602,273 (GRCm39) |
I513M |
probably benign |
Het |
Oit3 |
T |
C |
10: 59,261,284 (GRCm39) |
D461G |
probably damaging |
Het |
Or2ab1 |
T |
A |
11: 58,488,830 (GRCm39) |
F205I |
probably benign |
Het |
Paxbp1 |
T |
C |
16: 90,831,011 (GRCm39) |
D455G |
probably damaging |
Het |
Pcdh7 |
A |
T |
5: 57,878,625 (GRCm39) |
T727S |
probably damaging |
Het |
Pex14 |
G |
A |
4: 149,055,053 (GRCm39) |
A113V |
probably damaging |
Het |
Phc3 |
A |
G |
3: 31,020,031 (GRCm39) |
V23A |
possibly damaging |
Het |
Plec |
T |
C |
15: 76,115,406 (GRCm39) |
D56G |
possibly damaging |
Het |
Plekha7 |
C |
A |
7: 115,836,768 (GRCm39) |
|
probably benign |
Het |
Prdm16 |
T |
C |
4: 154,422,140 (GRCm39) |
E885G |
probably damaging |
Het |
Prss1l |
T |
C |
6: 41,373,701 (GRCm39) |
L188P |
probably benign |
Het |
Psd2 |
A |
G |
18: 36,145,881 (GRCm39) |
T762A |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,784,318 (GRCm39) |
H964Q |
probably damaging |
Het |
Rbak |
C |
T |
5: 143,161,878 (GRCm39) |
V51I |
probably benign |
Het |
Rbfa |
A |
G |
18: 80,243,721 (GRCm39) |
L15P |
probably benign |
Het |
Ren1 |
T |
C |
1: 133,282,546 (GRCm39) |
Y84H |
probably damaging |
Het |
Rps6ka5 |
A |
T |
12: 100,547,577 (GRCm39) |
I311N |
probably damaging |
Het |
Samd14 |
T |
A |
11: 94,912,361 (GRCm39) |
|
probably null |
Het |
Scaf4 |
T |
C |
16: 90,026,403 (GRCm39) |
|
probably benign |
Het |
Serpina12 |
A |
T |
12: 104,004,611 (GRCm39) |
L7Q |
unknown |
Het |
Serpinb9d |
A |
T |
13: 33,384,599 (GRCm39) |
E192V |
probably damaging |
Het |
Slc22a29 |
A |
T |
19: 8,146,655 (GRCm39) |
F382L |
probably benign |
Het |
Snta1 |
T |
A |
2: 154,220,035 (GRCm39) |
D375V |
probably benign |
Het |
Stat5b |
T |
A |
11: 100,678,064 (GRCm39) |
Y683F |
probably damaging |
Het |
Strip1 |
A |
T |
3: 107,531,819 (GRCm39) |
Y257N |
probably benign |
Het |
Sugp2 |
A |
G |
8: 70,704,548 (GRCm39) |
H695R |
probably benign |
Het |
Svep1 |
T |
A |
4: 58,068,526 (GRCm39) |
R3087* |
probably null |
Het |
Syngr2 |
T |
C |
11: 117,703,947 (GRCm39) |
V138A |
probably damaging |
Het |
Thra |
T |
C |
11: 98,655,310 (GRCm39) |
F397L |
probably benign |
Het |
Tmem45b |
T |
A |
9: 31,339,951 (GRCm39) |
I149F |
probably damaging |
Het |
Tmprss11f |
C |
T |
5: 86,687,553 (GRCm39) |
|
probably null |
Het |
Ush2a |
C |
T |
1: 188,183,995 (GRCm39) |
T1433I |
probably benign |
Het |
Vmn2r109 |
A |
T |
17: 20,774,820 (GRCm39) |
Y178* |
probably null |
Het |
Vmn2r84 |
T |
G |
10: 130,226,582 (GRCm39) |
M419L |
probably benign |
Het |
Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
Zfp268 |
T |
A |
4: 145,343,747 (GRCm39) |
|
probably null |
Het |
Zfp276 |
A |
G |
8: 123,995,145 (GRCm39) |
|
probably benign |
Het |
Zfp568 |
T |
G |
7: 29,697,617 (GRCm39) |
F100V |
probably benign |
Het |
Zfp667 |
T |
A |
7: 6,293,624 (GRCm39) |
D41E |
possibly 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 |
|
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'- TATGCACAGTTGGATTGAGGC -3'
(R):5'- TGTGTAACCCACCACTCATC -3'
Sequencing Primer
(F):5'- ATTGAGGCCTGCAGAGCCAG -3'
(R):5'- CTGGCCGTGACGTGTGAAG -3'
|
Posted On |
2015-09-24 |