Incidental Mutation 'R8979:Llgl1'
| ID |
683650 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Llgl1
|
| Ensembl Gene |
ENSMUSG00000020536 |
| Gene Name |
LLGL1 scribble cell polarity complex component |
| Synonyms |
Lgl1 |
| MMRRC Submission |
068812-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8979 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
60590549-60605012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 60601129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 689
(A689V)
|
| 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: A689V
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536
AA Change: A689V
| 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: A689V
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536
AA Change: A689V
| 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: 99.1%
|
| Validation Efficiency |
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
C |
3: 59,932,545 (GRCm39) |
R353S |
probably damaging |
Het |
| Ablim3 |
C |
T |
18: 61,982,397 (GRCm39) |
V183I |
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,527,115 (GRCm39) |
Q607L |
probably benign |
Het |
| Adgrl1 |
A |
G |
8: 84,665,015 (GRCm39) |
D1234G |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,598,009 (GRCm39) |
Y945C |
probably damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,246,969 (GRCm39) |
W18R |
possibly damaging |
Het |
| Caskin1 |
G |
T |
17: 24,717,899 (GRCm39) |
A229S |
possibly damaging |
Het |
| Celsr1 |
A |
T |
15: 85,847,340 (GRCm39) |
S1466T |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,227,947 (GRCm39) |
Y380H |
probably benign |
Het |
| Ciapin1 |
A |
T |
8: 95,549,753 (GRCm39) |
L301Q |
probably damaging |
Het |
| Clec1b |
A |
G |
6: 129,380,537 (GRCm39) |
E151G |
probably benign |
Het |
| Cngb1 |
G |
A |
8: 96,004,913 (GRCm39) |
|
probably benign |
Het |
| Cntln |
T |
A |
4: 85,048,910 (GRCm39) |
V240E |
probably damaging |
Het |
| Cog5 |
A |
G |
12: 31,840,894 (GRCm39) |
T240A |
probably benign |
Het |
| Col5a3 |
G |
A |
9: 20,686,597 (GRCm39) |
P1343S |
unknown |
Het |
| Cspp1 |
T |
A |
1: 10,134,630 (GRCm39) |
S127T |
probably benign |
Het |
| Dnah9 |
T |
G |
11: 65,895,978 (GRCm39) |
M2466L |
probably benign |
Het |
| Fbn2 |
C |
T |
18: 58,286,928 (GRCm39) |
G244R |
probably damaging |
Het |
| Fbxw13 |
A |
T |
9: 109,013,197 (GRCm39) |
W247R |
probably damaging |
Het |
| Gbp4 |
G |
A |
5: 105,267,248 (GRCm39) |
T557M |
probably benign |
Het |
| Ide |
G |
A |
19: 37,302,711 (GRCm39) |
A133V |
|
Het |
| Il2rb |
C |
A |
15: 78,376,052 (GRCm39) |
|
probably benign |
Het |
| Itgb1 |
A |
G |
8: 129,448,951 (GRCm39) |
E519G |
probably benign |
Het |
| Kifc1 |
A |
G |
17: 34,102,228 (GRCm39) |
Y462H |
possibly damaging |
Het |
| Krt1 |
A |
G |
15: 101,755,340 (GRCm39) |
F473S |
probably benign |
Het |
| Lrrc37a |
C |
A |
11: 103,393,833 (GRCm39) |
V531L |
possibly damaging |
Het |
| Mid1 |
C |
G |
X: 168,768,003 (GRCm39) |
P384A |
probably benign |
Het |
| Mid1 |
G |
A |
X: 168,768,009 (GRCm39) |
A386T |
probably benign |
Het |
| Mms22l |
C |
T |
4: 24,580,070 (GRCm39) |
L760F |
probably benign |
Het |
| Mplkipl1 |
A |
G |
19: 61,164,169 (GRCm39) |
Y89H |
probably damaging |
Het |
| Mst1r |
C |
T |
9: 107,792,478 (GRCm39) |
R951C |
probably damaging |
Het |
| Naalad2 |
G |
A |
9: 18,242,146 (GRCm39) |
T586M |
probably damaging |
Het |
| Or4c108 |
C |
T |
2: 88,804,173 (GRCm39) |
V21I |
probably benign |
Het |
| Oxct2b |
A |
G |
4: 123,011,169 (GRCm39) |
N363S |
probably benign |
Het |
| Padi6 |
T |
G |
4: 140,466,474 (GRCm39) |
N145T |
probably benign |
Het |
| Plcl2 |
T |
A |
17: 50,947,145 (GRCm39) |
M1008K |
possibly damaging |
Het |
| Plekha5 |
T |
C |
6: 140,496,818 (GRCm39) |
S435P |
probably damaging |
Het |
| Prkacb |
C |
A |
3: 146,518,411 (GRCm39) |
G10C |
probably benign |
Het |
| Psg29 |
A |
T |
7: 16,937,544 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,671,120 (GRCm39) |
T213A |
probably damaging |
Het |
| Ptpro |
A |
G |
6: 137,345,140 (GRCm39) |
I49V |
probably benign |
Het |
| Rassf1 |
A |
G |
9: 107,429,004 (GRCm39) |
D70G |
probably benign |
Het |
| Rbm24 |
A |
T |
13: 46,572,531 (GRCm39) |
T9S |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,218,937 (GRCm39) |
T948A |
unknown |
Het |
| Ryr2 |
A |
T |
13: 11,609,924 (GRCm39) |
C4301S |
probably benign |
Het |
| S100pbp |
T |
C |
4: 129,076,133 (GRCm39) |
D64G |
probably damaging |
Het |
| Samd3 |
A |
G |
10: 26,120,428 (GRCm39) |
K141E |
possibly damaging |
Het |
| Scgb1b29 |
A |
T |
7: 32,141,277 (GRCm39) |
K65* |
probably null |
Het |
| Shoc1 |
T |
C |
4: 59,047,276 (GRCm39) |
T1448A |
possibly damaging |
Het |
| Slc51b |
T |
C |
9: 65,320,210 (GRCm39) |
N86D |
probably benign |
Het |
| Slc6a3 |
G |
A |
13: 73,715,720 (GRCm39) |
V452I |
probably benign |
Het |
| Sobp |
A |
G |
10: 42,896,976 (GRCm39) |
|
probably null |
Het |
| Spats2 |
T |
C |
15: 99,110,123 (GRCm39) |
S507P |
possibly damaging |
Het |
| Spns3 |
C |
T |
11: 72,420,416 (GRCm39) |
A357T |
probably damaging |
Het |
| Suox |
A |
T |
10: 128,507,367 (GRCm39) |
H220Q |
probably damaging |
Het |
| Tbc1d9b |
A |
T |
11: 50,061,809 (GRCm39) |
S1106C |
probably benign |
Het |
| Tbx1 |
T |
C |
16: 18,406,745 (GRCm39) |
D9G |
unknown |
Het |
| Tcaf2 |
A |
T |
6: 42,601,404 (GRCm39) |
F885Y |
probably damaging |
Het |
| Tgoln1 |
T |
C |
6: 72,593,262 (GRCm39) |
T73A |
probably benign |
Het |
| Tigd3 |
G |
A |
19: 5,941,853 (GRCm39) |
P426S |
probably benign |
Het |
| Tmem233 |
T |
A |
5: 116,221,260 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf11a |
A |
G |
1: 105,754,825 (GRCm39) |
D299G |
possibly damaging |
Het |
| Trim32 |
T |
C |
4: 65,531,692 (GRCm39) |
V83A |
possibly damaging |
Het |
| Unc13a |
A |
T |
8: 72,113,125 (GRCm39) |
M242K |
probably benign |
Het |
| Vat1 |
C |
T |
11: 101,353,041 (GRCm39) |
G293D |
probably damaging |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,892 (GRCm39) |
V186D |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,096,764 (GRCm39) |
Y345H |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,766,003 (GRCm39) |
T1510I |
probably benign |
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 |
|
|
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'- CCAGTAGCAAGGTGAGTTGG -3'
(R):5'- ATACAGAAGCTGCTTCTCACAC -3'
Sequencing Primer
(F):5'- AGCAAGGTGAGTTGGGGCTG -3'
(R):5'- GTACAGAGGTCATCCAGCCTCTC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation