Incidental Mutation 'R8176:Llgl1'
| ID |
634354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Llgl1
|
| Ensembl Gene |
ENSMUSG00000020536 |
| Gene Name |
LLGL1 scribble cell polarity complex component |
| Synonyms |
Lgl1 |
| MMRRC Submission |
067601-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8176 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60590549-60605012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60597387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 279
(T279A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052346]
[ENSMUST00000108719]
|
| AlphaFold |
Q80Y17 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052346
AA Change: T279A
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536
AA Change: T279A
| 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: T279A
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536
AA Change: T279A
| 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 |
100% (59/59) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030469F06Rik |
T |
A |
12: 31,235,135 (GRCm39) |
F172I |
noncoding transcript |
Het |
| Aatk |
A |
G |
11: 119,907,241 (GRCm39) |
V154A |
probably damaging |
Het |
| Abca6 |
A |
C |
11: 110,135,020 (GRCm39) |
V255G |
probably benign |
Het |
| Adam8 |
T |
C |
7: 139,568,786 (GRCm39) |
K211E |
probably benign |
Het |
| Alg12 |
A |
G |
15: 88,690,084 (GRCm39) |
V470A |
possibly damaging |
Het |
| Anks1b |
C |
A |
10: 89,905,353 (GRCm39) |
H231Q |
probably damaging |
Het |
| Bcl2 |
T |
C |
1: 106,640,528 (GRCm39) |
Y28C |
probably damaging |
Het |
| Bms1 |
G |
T |
6: 118,395,411 (GRCm39) |
F45L |
probably damaging |
Het |
| Btd |
T |
A |
14: 31,384,073 (GRCm39) |
F20I |
probably benign |
Het |
| C1rl |
T |
C |
6: 124,470,844 (GRCm39) |
S51P |
probably benign |
Het |
| Capn7 |
C |
A |
14: 31,069,729 (GRCm39) |
F184L |
probably benign |
Het |
| Cd300lg |
A |
T |
11: 101,932,390 (GRCm39) |
|
probably benign |
Het |
| Cdc34 |
T |
C |
10: 79,518,362 (GRCm39) |
Y39H |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,935,851 (GRCm39) |
K429E |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,784,114 (GRCm39) |
N473S |
probably benign |
Het |
| Cntln |
C |
T |
4: 84,806,926 (GRCm39) |
T136I |
probably damaging |
Het |
| Cyfip1 |
A |
T |
7: 55,574,175 (GRCm39) |
L1032F |
probably benign |
Het |
| Dach1 |
C |
T |
14: 98,153,916 (GRCm39) |
V392I |
probably benign |
Het |
| Dnah14 |
C |
T |
1: 181,484,598 (GRCm39) |
S1590L |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,376,786 (GRCm39) |
Y1524H |
possibly damaging |
Het |
| Dusp13b |
T |
C |
14: 21,797,549 (GRCm39) |
I103V |
possibly damaging |
Het |
| Eeig1 |
A |
G |
2: 32,453,624 (GRCm39) |
T158A |
probably benign |
Het |
| Efhb |
T |
C |
17: 53,707,874 (GRCm39) |
Y763C |
probably damaging |
Het |
| Fam117a |
G |
T |
11: 95,227,965 (GRCm39) |
R25L |
unknown |
Het |
| Fcgbp |
T |
C |
7: 27,791,174 (GRCm39) |
S812P |
possibly damaging |
Het |
| Fgd5 |
T |
A |
6: 91,964,965 (GRCm39) |
N399K |
probably benign |
Het |
| Foxi3 |
T |
A |
6: 70,934,017 (GRCm39) |
I168N |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,562,761 (GRCm39) |
I582K |
possibly damaging |
Het |
| Gm21915 |
T |
A |
9: 40,582,266 (GRCm39) |
S120T |
probably benign |
Het |
| Gtf3c5 |
A |
G |
2: 28,460,429 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
A |
T |
13: 14,422,286 (GRCm39) |
|
probably null |
Het |
| Hsf2 |
T |
A |
10: 57,381,290 (GRCm39) |
Y293* |
probably null |
Het |
| Ints10 |
T |
A |
8: 69,255,603 (GRCm39) |
Y198N |
probably damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,001,957 (GRCm39) |
E399G |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,645,597 (GRCm39) |
|
probably null |
Het |
| Kcnh8 |
T |
C |
17: 53,285,122 (GRCm39) |
S1031P |
probably damaging |
Het |
| Ly6a |
C |
T |
15: 74,868,300 (GRCm39) |
|
probably null |
Het |
| Marchf4 |
T |
C |
1: 72,573,998 (GRCm39) |
E100G |
probably damaging |
Het |
| Mta1 |
A |
G |
12: 113,084,456 (GRCm39) |
E84G |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,467,886 (GRCm39) |
Y808C |
probably benign |
Het |
| Ncoa1 |
A |
G |
12: 4,317,858 (GRCm39) |
V1158A |
possibly damaging |
Het |
| Npepps |
A |
G |
11: 97,126,977 (GRCm39) |
S428P |
probably damaging |
Het |
| Onecut2 |
A |
T |
18: 64,473,931 (GRCm39) |
T161S |
possibly damaging |
Het |
| Or10j27 |
C |
T |
1: 172,958,383 (GRCm39) |
V134I |
probably benign |
Het |
| Or52e19b |
G |
A |
7: 103,033,071 (GRCm39) |
T46I |
probably benign |
Het |
| Or6c5 |
T |
G |
10: 129,074,747 (GRCm39) |
M243R |
probably benign |
Het |
| Pdp2 |
A |
G |
8: 105,321,687 (GRCm39) |
D512G |
probably damaging |
Het |
| Pex11b |
G |
T |
3: 96,551,027 (GRCm39) |
V171L |
probably benign |
Het |
| Potefam2 |
T |
C |
7: 62,432,783 (GRCm39) |
|
probably null |
Het |
| Ppil3 |
A |
T |
1: 58,480,078 (GRCm39) |
C32* |
probably null |
Het |
| Prune2 |
T |
C |
19: 17,095,656 (GRCm39) |
Y387H |
probably damaging |
Het |
| Rbp3 |
C |
A |
14: 33,677,605 (GRCm39) |
H518N |
possibly damaging |
Het |
| Rhot2 |
T |
C |
17: 26,063,068 (GRCm39) |
Y58C |
probably damaging |
Het |
| Sec16b |
C |
A |
1: 157,362,981 (GRCm39) |
H271N |
probably damaging |
Het |
| Sgo2a |
A |
G |
1: 58,056,252 (GRCm39) |
D812G |
possibly damaging |
Het |
| Skap2 |
T |
C |
6: 51,884,878 (GRCm39) |
E261G |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,865,117 (GRCm39) |
N755S |
probably benign |
Het |
| Stat5a |
T |
A |
11: 100,767,689 (GRCm39) |
M419K |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,270,465 (GRCm39) |
C1281Y |
probably damaging |
Het |
| Tm9sf2 |
T |
G |
14: 122,374,913 (GRCm39) |
S196R |
probably benign |
Het |
| Trpm8 |
A |
T |
1: 88,292,837 (GRCm39) |
H946L |
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 |
|
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'- ACGTTTTCCTAGGTAACCAGG -3'
(R):5'- GAGTGTCAGACCTCCCATTC -3'
Sequencing Primer
(F):5'- CGTTTTCCTAGGTAACCAGGTAAGC -3'
(R):5'- GTGTCAGACCTCCCATTCCTCAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation