Incidental Mutation 'R9155:Llgl1'
| ID |
695320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Llgl1
|
| Ensembl Gene |
ENSMUSG00000020536 |
| Gene Name |
LLGL1 scribble cell polarity complex component |
| Synonyms |
Lgl1 |
| MMRRC Submission |
068941-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9155 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
60590549-60605012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60597934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 351
(E351G)
|
| 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: E351G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536
AA Change: E351G
| 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: E351G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536
AA Change: E351G
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
A |
G |
5: 107,691,811 (GRCm39) |
E34G |
probably damaging |
Het |
| Aldh1a3 |
A |
T |
7: 66,058,867 (GRCm39) |
L157* |
probably null |
Het |
| Asic2 |
T |
A |
11: 80,784,872 (GRCm39) |
T356S |
probably benign |
Het |
| Ate1 |
T |
C |
7: 129,996,463 (GRCm39) |
D459G |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,350,423 (GRCm39) |
Q474L |
|
Het |
| Calhm6 |
T |
C |
10: 34,002,363 (GRCm39) |
E240G |
probably damaging |
Het |
| Carf |
C |
A |
1: 60,189,842 (GRCm39) |
T689K |
possibly damaging |
Het |
| Carmil2 |
A |
G |
8: 106,412,922 (GRCm39) |
D6G |
probably benign |
Het |
| Ccnd2 |
A |
C |
6: 127,127,663 (GRCm39) |
V25G |
probably damaging |
Het |
| Ccnk |
T |
A |
12: 108,159,978 (GRCm39) |
F153L |
probably damaging |
Het |
| Cdh23 |
C |
T |
10: 60,249,485 (GRCm39) |
G808E |
probably damaging |
Het |
| Clec11a |
C |
T |
7: 43,954,317 (GRCm39) |
R212Q |
probably damaging |
Het |
| Cog4 |
T |
C |
8: 111,608,384 (GRCm39) |
W749R |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,738,301 (GRCm39) |
T1073S |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,952,209 (GRCm39) |
D563V |
probably benign |
Het |
| Coq5 |
A |
G |
5: 115,433,839 (GRCm39) |
|
probably null |
Het |
| Crebbp |
A |
C |
16: 3,914,346 (GRCm39) |
H1292Q |
probably damaging |
Het |
| Csmd3 |
C |
A |
15: 47,449,051 (GRCm39) |
G2737W |
|
Het |
| Ddrgk1 |
T |
C |
2: 130,500,227 (GRCm39) |
Y223C |
probably damaging |
Het |
| Dennd1c |
T |
C |
17: 57,373,796 (GRCm39) |
Q589R |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,907,475 (GRCm39) |
D4336G |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| E330034G19Rik |
A |
T |
14: 24,346,938 (GRCm39) |
Q140L |
possibly damaging |
Het |
| Ergic3 |
A |
G |
2: 155,850,780 (GRCm39) |
Y83C |
probably damaging |
Het |
| Fam171a2 |
A |
T |
11: 102,329,497 (GRCm39) |
S421T |
probably benign |
Het |
| Fndc3a |
T |
A |
14: 72,921,162 (GRCm39) |
H4L |
possibly damaging |
Het |
| Gid8 |
T |
A |
2: 180,359,756 (GRCm39) |
Y213* |
probably null |
Het |
| Hephl1 |
G |
T |
9: 15,000,375 (GRCm39) |
H292Q |
probably damaging |
Het |
| Hexb |
T |
C |
13: 97,314,414 (GRCm39) |
Y443C |
probably damaging |
Het |
| Htr1f |
C |
T |
16: 64,746,788 (GRCm39) |
R168H |
probably benign |
Het |
| Hus1 |
A |
G |
11: 8,956,056 (GRCm39) |
I159T |
probably damaging |
Het |
| Inha |
A |
G |
1: 75,486,133 (GRCm39) |
T143A |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,194,330 (GRCm39) |
I690T |
probably benign |
Het |
| Itgae |
G |
T |
11: 73,016,089 (GRCm39) |
C766F |
possibly damaging |
Het |
| Kank4 |
T |
C |
4: 98,666,563 (GRCm39) |
E628G |
probably benign |
Het |
| Kctd19 |
T |
C |
8: 106,120,571 (GRCm39) |
H221R |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,202,508 (GRCm39) |
Y253C |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,291,713 (GRCm39) |
R3489* |
probably null |
Het |
| Lrriq1 |
T |
C |
10: 103,050,640 (GRCm39) |
N704S |
probably benign |
Het |
| Mbtps1 |
T |
C |
8: 120,235,693 (GRCm39) |
N995S |
probably benign |
Het |
| Mga |
T |
C |
2: 119,757,013 (GRCm39) |
C1077R |
probably damaging |
Het |
| Muc21 |
G |
A |
17: 35,932,131 (GRCm39) |
P685L |
unknown |
Het |
| Ndufv1 |
A |
T |
19: 4,059,912 (GRCm39) |
C142S |
probably damaging |
Het |
| Nkx3-1 |
T |
C |
14: 69,429,660 (GRCm39) |
L226P |
probably damaging |
Het |
| Nsd1 |
C |
T |
13: 55,361,253 (GRCm39) |
R74W |
probably damaging |
Het |
| Or12k8 |
A |
C |
2: 36,975,016 (GRCm39) |
M248R |
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,255,791 (GRCm39) |
T99A |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,224 (GRCm39) |
M59L |
probably damaging |
Het |
| Or5b99 |
G |
A |
19: 12,976,428 (GRCm39) |
C26Y |
probably benign |
Het |
| Or7g35 |
A |
T |
9: 19,496,379 (GRCm39) |
D182V |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,968,691 (GRCm39) |
V812A |
probably benign |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Ppp4c |
A |
T |
7: 126,386,419 (GRCm39) |
C193S |
possibly damaging |
Het |
| Rbbp5 |
C |
A |
1: 132,422,023 (GRCm39) |
P308T |
probably damaging |
Het |
| Rhot1 |
A |
G |
11: 80,148,380 (GRCm39) |
T607A |
probably null |
Het |
| Secisbp2l |
G |
A |
2: 125,617,623 (GRCm39) |
P18L |
probably damaging |
Het |
| Slc27a4 |
G |
A |
2: 29,701,294 (GRCm39) |
G362S |
probably damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,672,571 (GRCm39) |
Y36H |
probably damaging |
Het |
| Sox17 |
T |
C |
1: 4,562,447 (GRCm39) |
Y251C |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,120,203 (GRCm39) |
I4269N |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,946,296 (GRCm39) |
V373A |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,881,184 (GRCm39) |
V107E |
probably damaging |
Het |
| Them7 |
A |
G |
2: 105,209,124 (GRCm39) |
Y148C |
probably damaging |
Het |
| Tktl2 |
T |
A |
8: 66,965,858 (GRCm39) |
M472K |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,625,937 (GRCm39) |
V15041I |
probably damaging |
Het |
| Ubr1 |
A |
G |
2: 120,754,615 (GRCm39) |
V751A |
possibly damaging |
Het |
| Vmn1r213 |
A |
T |
13: 23,196,343 (GRCm39) |
R309* |
probably null |
Het |
| Vmn2r10 |
A |
T |
5: 109,144,212 (GRCm39) |
D579E |
probably benign |
Het |
| Vmn2r118 |
T |
C |
17: 55,917,207 (GRCm39) |
Q435R |
probably null |
Het |
| Vmn2r50 |
A |
T |
7: 9,781,571 (GRCm39) |
H391Q |
probably damaging |
Het |
| Zbtb44 |
A |
T |
9: 30,965,309 (GRCm39) |
I240F |
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 |
|
|
R8979:Llgl1
|
UTSW |
11 |
60,601,129 (GRCm39) |
missense |
probably benign |
0.25 |
|
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'- TTATCCAGCATGTGCCCTG -3'
(R):5'- TAGCTGACGAATGCAGTGG -3'
Sequencing Primer
(F):5'- AGCTCCTGGTTCACACAGC -3'
(R):5'- CGAATGCAGTGGGGCCAG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation