Incidental Mutation 'R9163:Llgl1'
ID |
695863 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Llgl1
|
Ensembl Gene |
ENSMUSG00000020536 |
Gene Name |
LLGL1 scribble cell polarity complex component |
Synonyms |
Lgl1 |
MMRRC Submission |
068975-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9163 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
60590549-60605012 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 60600402 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 584
(A584S)
|
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 benign
Transcript: ENSMUST00000052346
AA Change: A584S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000060749 Gene: ENSMUSG00000020536 AA Change: A584S
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: A584S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000104359 Gene: ENSMUSG00000020536 AA Change: A584S
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: 99.2%
|
Validation Efficiency |
99% (69/70) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,393,400 (GRCm39) |
S351P |
possibly damaging |
Het |
4930558K02Rik |
A |
G |
1: 161,777,174 (GRCm39) |
S128P |
probably benign |
Het |
Adam17 |
C |
T |
12: 21,401,588 (GRCm39) |
V136I |
probably benign |
Het |
Adam19 |
A |
G |
11: 46,018,176 (GRCm39) |
T413A |
probably benign |
Het |
Adam28 |
T |
C |
14: 68,866,531 (GRCm39) |
K443E |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,567,541 (GRCm39) |
T5211S |
probably benign |
Het |
Adnp2 |
A |
T |
18: 80,172,200 (GRCm39) |
N736K |
possibly damaging |
Het |
Agtpbp1 |
C |
T |
13: 59,609,884 (GRCm39) |
W1082* |
probably null |
Het |
Ap3b2 |
T |
G |
7: 81,113,546 (GRCm39) |
M888L |
unknown |
Het |
Arhgap35 |
C |
A |
7: 16,295,549 (GRCm39) |
R1172L |
possibly damaging |
Het |
Arrdc3 |
T |
A |
13: 81,041,506 (GRCm39) |
D402E |
probably benign |
Het |
Ccdc14 |
T |
C |
16: 34,511,118 (GRCm39) |
F31L |
possibly damaging |
Het |
Cd5l |
T |
G |
3: 87,274,932 (GRCm39) |
L157R |
probably benign |
Het |
Cdc14a |
G |
T |
3: 116,122,213 (GRCm39) |
D251E |
possibly damaging |
Het |
Cfap210 |
A |
T |
2: 69,606,510 (GRCm39) |
I302K |
probably benign |
Het |
Chmp2a |
T |
A |
7: 12,766,645 (GRCm39) |
Q91L |
possibly damaging |
Het |
Col12a1 |
A |
G |
9: 79,548,729 (GRCm39) |
|
probably null |
Het |
Ctdsp1 |
G |
T |
1: 74,434,126 (GRCm39) |
R201L |
possibly damaging |
Het |
Dhx15 |
C |
T |
5: 52,342,198 (GRCm39) |
R40H |
probably damaging |
Het |
Dnph1 |
A |
G |
17: 46,809,860 (GRCm39) |
Y134C |
probably damaging |
Het |
Foxo1 |
T |
A |
3: 52,253,301 (GRCm39) |
V488D |
probably benign |
Het |
Gcn1 |
C |
A |
5: 115,742,944 (GRCm39) |
N1538K |
probably benign |
Het |
Gldc |
T |
A |
19: 30,111,686 (GRCm39) |
E500V |
probably benign |
Het |
Hhip |
G |
A |
8: 80,701,743 (GRCm39) |
T597I |
probably benign |
Het |
Hmgn1 |
A |
G |
16: 95,928,509 (GRCm39) |
|
probably null |
Het |
Ifi205 |
A |
T |
1: 173,844,988 (GRCm39) |
S265T |
possibly damaging |
Het |
Igkv1-131 |
T |
C |
6: 67,743,753 (GRCm39) |
M2V |
probably benign |
Het |
Irgm2 |
T |
G |
11: 58,111,280 (GRCm39) |
S324A |
probably damaging |
Het |
Jarid2 |
C |
G |
13: 45,064,727 (GRCm39) |
D937E |
possibly damaging |
Het |
Jrkl |
A |
T |
9: 13,245,404 (GRCm39) |
W86R |
probably damaging |
Het |
Kbtbd3 |
A |
G |
9: 4,330,584 (GRCm39) |
I319M |
probably benign |
Het |
Klhl7 |
T |
C |
5: 24,364,465 (GRCm39) |
Y500H |
probably damaging |
Het |
Lats1 |
C |
T |
10: 7,578,052 (GRCm39) |
A392V |
probably benign |
Het |
Macf1 |
G |
T |
4: 123,403,686 (GRCm39) |
S560Y |
probably damaging |
Het |
Or4c11 |
C |
T |
2: 88,695,795 (GRCm39) |
P282L |
possibly damaging |
Het |
Or8c10 |
T |
A |
9: 38,279,378 (GRCm39) |
C169S |
probably damaging |
Het |
Pde10a |
G |
A |
17: 9,181,791 (GRCm39) |
C498Y |
possibly damaging |
Het |
Pde4dip |
A |
G |
3: 97,659,123 (GRCm39) |
|
probably null |
Het |
Pdhx |
G |
A |
2: 102,852,561 (GRCm39) |
P434L |
probably damaging |
Het |
Pdlim3 |
T |
C |
8: 46,338,711 (GRCm39) |
|
probably null |
Het |
Pik3c3 |
T |
C |
18: 30,427,483 (GRCm39) |
|
probably null |
Het |
Prkag1 |
T |
C |
15: 98,711,900 (GRCm39) |
K242R |
possibly damaging |
Het |
Rap1b |
A |
G |
10: 117,654,391 (GRCm39) |
S150P |
possibly damaging |
Het |
Scn4a |
A |
G |
11: 106,217,076 (GRCm39) |
S1102P |
probably damaging |
Het |
Scrib |
A |
G |
15: 75,921,108 (GRCm39) |
Y1332H |
probably damaging |
Het |
Sim1 |
A |
G |
10: 50,772,165 (GRCm39) |
E58G |
probably benign |
Het |
Slc13a1 |
C |
T |
6: 24,097,578 (GRCm39) |
|
probably null |
Het |
Slc17a8 |
A |
G |
10: 89,425,444 (GRCm39) |
V380A |
probably damaging |
Het |
Slc5a4b |
G |
T |
10: 75,917,165 (GRCm39) |
Y290* |
probably null |
Het |
Slco4c1 |
A |
G |
1: 96,764,633 (GRCm39) |
F480L |
probably damaging |
Het |
Srcap |
T |
C |
7: 127,121,162 (GRCm39) |
V146A |
unknown |
Het |
Ssc5d |
T |
A |
7: 4,936,432 (GRCm39) |
D559E |
probably damaging |
Het |
Sstr5 |
A |
C |
17: 25,710,584 (GRCm39) |
I215S |
probably damaging |
Het |
Stambpl1 |
G |
A |
19: 34,212,634 (GRCm39) |
C268Y |
probably benign |
Het |
Stard3nl |
C |
A |
13: 19,560,809 (GRCm39) |
|
probably benign |
Het |
Sycp3 |
T |
C |
10: 88,299,734 (GRCm39) |
|
probably null |
Het |
Syne2 |
A |
T |
12: 76,009,349 (GRCm39) |
M2417L |
possibly damaging |
Het |
Tenm4 |
T |
G |
7: 96,473,080 (GRCm39) |
Y959D |
probably damaging |
Het |
Tmem132d |
T |
A |
5: 127,869,570 (GRCm39) |
D588V |
possibly damaging |
Het |
Tnfrsf26 |
T |
C |
7: 143,172,130 (GRCm39) |
E60G |
possibly damaging |
Het |
Topbp1 |
A |
G |
9: 103,205,767 (GRCm39) |
R802G |
probably benign |
Het |
Trmu |
T |
C |
15: 85,781,096 (GRCm39) |
V360A |
probably benign |
Het |
Tshz2 |
G |
A |
2: 169,726,562 (GRCm39) |
C386Y |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,700,771 (GRCm39) |
D61E |
|
Het |
Upf1 |
T |
C |
8: 70,792,674 (GRCm39) |
T345A |
probably benign |
Het |
Vmn2r23 |
T |
A |
6: 123,718,782 (GRCm39) |
C712S |
probably damaging |
Het |
Vmn2r44 |
C |
T |
7: 8,371,091 (GRCm39) |
V652I |
probably benign |
Het |
Wfdc1 |
T |
C |
8: 120,393,302 (GRCm39) |
V8A |
probably benign |
Het |
Xrn1 |
A |
G |
9: 95,880,274 (GRCm39) |
Y738C |
probably benign |
Het |
Zfp618 |
T |
G |
4: 63,051,511 (GRCm39) |
V764G |
probably damaging |
Het |
Znfx1 |
A |
T |
2: 166,898,261 (GRCm39) |
M221K |
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 |
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'- AGCTCAGTGAAGGCTTTGGTAC -3'
(R):5'- ACCTCGTGCCACATACCTAG -3'
Sequencing Primer
(F):5'- ACATTGTAGGTATTCAGGGGCC -3'
(R):5'- TACCTAGCCAGCACAGGG -3'
|
Posted On |
2022-02-07 |