Incidental Mutation 'R6268:Llgl1'
| ID |
507173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Llgl1
|
| Ensembl Gene |
ENSMUSG00000020536 |
| Gene Name |
LLGL1 scribble cell polarity complex component |
| Synonyms |
Lgl1 |
| MMRRC Submission |
044439-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6268 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60590549-60605012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60602989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 888
(V888A)
|
| 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: V888A
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536
AA Change: V888A
| 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: V888A
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536
AA Change: V888A
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
99% (68/69) |
| 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 |
|---|
| 4921504E06Rik |
A |
G |
2: 19,545,219 (GRCm39) |
I78T |
probably benign |
Het |
| Afg3l1 |
A |
T |
8: 124,219,665 (GRCm39) |
I398F |
probably damaging |
Het |
| Ahctf1 |
T |
C |
1: 179,591,048 (GRCm39) |
H1244R |
probably benign |
Het |
| Ank1 |
A |
T |
8: 23,599,687 (GRCm39) |
K797N |
probably damaging |
Het |
| Anxa6 |
G |
T |
11: 54,877,903 (GRCm39) |
|
probably null |
Het |
| Aoc1l1 |
T |
A |
6: 48,954,616 (GRCm39) |
Y585N |
probably benign |
Het |
| Ap1b1 |
T |
A |
11: 4,969,493 (GRCm39) |
V310E |
probably damaging |
Het |
| C2cd2l |
T |
C |
9: 44,228,963 (GRCm39) |
I123V |
probably damaging |
Het |
| Cars2 |
TCCCC |
TCCC |
8: 11,579,599 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
A |
10: 92,874,771 (GRCm39) |
I542F |
probably damaging |
Het |
| Cfap57 |
G |
T |
4: 118,426,648 (GRCm39) |
Y1100* |
probably null |
Het |
| Coq9 |
A |
G |
8: 95,576,862 (GRCm39) |
E158G |
probably benign |
Het |
| Cox15 |
A |
T |
19: 43,728,365 (GRCm39) |
W303R |
possibly damaging |
Het |
| Cpa5 |
A |
G |
6: 30,615,172 (GRCm39) |
Y103C |
probably damaging |
Het |
| Crygn |
A |
T |
5: 24,961,189 (GRCm39) |
V39E |
probably damaging |
Het |
| Csf1 |
G |
T |
3: 107,654,473 (GRCm39) |
S132R |
possibly damaging |
Het |
| Dapk1 |
G |
A |
13: 60,909,580 (GRCm39) |
V1398M |
possibly damaging |
Het |
| Degs2 |
C |
A |
12: 108,658,839 (GRCm39) |
V47L |
probably damaging |
Het |
| Dock5 |
C |
A |
14: 68,027,724 (GRCm39) |
E1057* |
probably null |
Het |
| Dsg1b |
C |
A |
18: 20,521,220 (GRCm39) |
Q26K |
probably benign |
Het |
| Elp1 |
T |
C |
4: 56,762,305 (GRCm39) |
Y1098C |
probably damaging |
Het |
| Fam181a |
T |
C |
12: 103,282,803 (GRCm39) |
V236A |
possibly damaging |
Het |
| Fam78b |
C |
A |
1: 166,906,122 (GRCm39) |
P94T |
probably damaging |
Het |
| Fbxw25 |
T |
G |
9: 109,483,718 (GRCm39) |
T165P |
probably damaging |
Het |
| Flg |
C |
A |
3: 93,195,482 (GRCm39) |
|
probably benign |
Het |
| Frrs1 |
G |
T |
3: 116,696,748 (GRCm39) |
V573F |
probably damaging |
Het |
| Gm7298 |
A |
G |
6: 121,756,032 (GRCm39) |
T964A |
possibly damaging |
Het |
| Hoxd9 |
G |
T |
2: 74,528,433 (GRCm39) |
V12L |
probably damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,793,609 (GRCm39) |
|
probably null |
Het |
| Klhl3 |
G |
T |
13: 58,161,656 (GRCm39) |
R480S |
probably damaging |
Het |
| Klhl36 |
A |
G |
8: 120,597,406 (GRCm39) |
D369G |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,657,794 (GRCm39) |
N303K |
probably damaging |
Het |
| Lhcgr |
T |
C |
17: 89,050,132 (GRCm39) |
T465A |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,711,729 (GRCm39) |
T3164S |
probably benign |
Het |
| Mmp3 |
T |
G |
9: 7,447,622 (GRCm39) |
D202E |
possibly damaging |
Het |
| Mocs1 |
C |
A |
17: 49,742,183 (GRCm39) |
T104K |
probably damaging |
Het |
| Mrpl42 |
A |
T |
10: 95,332,569 (GRCm39) |
|
probably null |
Het |
| Mtch2 |
T |
C |
2: 90,693,992 (GRCm39) |
C279R |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,589,141 (GRCm39) |
D2836V |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,226,741 (GRCm39) |
E370G |
probably benign |
Het |
| Naa11 |
A |
G |
5: 97,540,069 (GRCm39) |
Y30H |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 109,842,351 (GRCm39) |
T141A |
probably damaging |
Het |
| Or5h26 |
A |
C |
16: 58,987,656 (GRCm39) |
|
probably null |
Het |
| Or8c11 |
T |
C |
9: 38,289,384 (GRCm39) |
I69T |
probably benign |
Het |
| Or9i14 |
A |
T |
19: 13,792,671 (GRCm39) |
Y94* |
probably null |
Het |
| Pcdha12 |
G |
A |
18: 37,155,477 (GRCm39) |
C732Y |
possibly damaging |
Het |
| Plekhm2 |
G |
A |
4: 141,359,652 (GRCm39) |
Q392* |
probably null |
Het |
| Prr22 |
G |
A |
17: 57,078,587 (GRCm39) |
V247M |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,540,073 (GRCm39) |
L716Q |
probably damaging |
Het |
| Rasgrp4 |
G |
A |
7: 28,842,493 (GRCm39) |
V246I |
probably damaging |
Het |
| Rhbdd2 |
C |
T |
5: 135,672,114 (GRCm39) |
T323I |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Scgb2b20 |
A |
T |
7: 33,063,973 (GRCm39) |
I99K |
possibly damaging |
Het |
| Scyl3 |
C |
T |
1: 163,773,786 (GRCm39) |
R324* |
probably null |
Het |
| Slc23a1 |
T |
C |
18: 35,752,624 (GRCm39) |
Y551C |
probably damaging |
Het |
| Slc5a5 |
A |
T |
8: 71,341,264 (GRCm39) |
S358R |
probably damaging |
Het |
| Sorcs3 |
T |
A |
19: 48,778,605 (GRCm39) |
N1007K |
probably damaging |
Het |
| Stxbp4 |
T |
A |
11: 90,431,027 (GRCm39) |
K428* |
probably null |
Het |
| Tmem63c |
T |
A |
12: 87,128,727 (GRCm39) |
I584N |
probably damaging |
Het |
| Traf3ip3 |
C |
T |
1: 192,880,344 (GRCm39) |
|
probably benign |
Het |
| Trgv2 |
G |
A |
13: 19,521,001 (GRCm39) |
T31I |
probably benign |
Het |
| Ttll3 |
C |
T |
6: 113,369,524 (GRCm39) |
R23C |
probably benign |
Het |
| Ugt2a3 |
A |
C |
5: 87,477,472 (GRCm39) |
L309R |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,550,807 (GRCm39) |
M2015T |
probably benign |
Het |
| Vmn2r14 |
A |
C |
5: 109,369,283 (GRCm39) |
S97A |
possibly damaging |
Het |
| Vps13c |
C |
A |
9: 67,858,731 (GRCm39) |
T2727K |
probably benign |
Het |
| Xrn1 |
T |
A |
9: 95,846,067 (GRCm39) |
I40K |
probably damaging |
Het |
| Zc3h11a |
A |
G |
1: 133,552,295 (GRCm39) |
V604A |
probably benign |
Het |
| Zfp410 |
G |
A |
12: 84,378,612 (GRCm39) |
R259H |
probably benign |
Het |
| Zfp748 |
A |
G |
13: 67,690,705 (GRCm39) |
V185A |
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 |
|
|
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 |
|
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'- TGTCAACAGGTGTTCACACTAC -3'
(R):5'- GCGCTCAAATTCCGATGGAG -3'
Sequencing Primer
(F):5'- TGTTCACACTACCCAAGGTGAGTG -3'
(R):5'- TATTTAAGGGACACTGCCACCG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation