Incidental Mutation 'R4653:Llgl1'
| ID |
351484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Llgl1
|
| Ensembl Gene |
ENSMUSG00000020536 |
| Gene Name |
LLGL1 scribble cell polarity complex component |
| Synonyms |
Lgl1 |
| MMRRC Submission |
041913-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4653 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60590549-60605012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60599477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 486
(D486G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052346]
[ENSMUST00000108719]
|
| AlphaFold |
Q80Y17 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052346
AA Change: D486G
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536
AA Change: D486G
| 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 |
possibly damaging
Transcript: ENSMUST00000108719
AA Change: D486G
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536
AA Change: D486G
| 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: ENSMUST00000128749
|
| Meta Mutation Damage Score |
0.1320 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (66/68) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,264 (GRCm39) |
T351A |
probably benign |
Het |
| 3930402G23Rik |
A |
T |
8: 10,976,075 (GRCm39) |
|
noncoding transcript |
Het |
| 4933409G03Rik |
G |
A |
2: 68,436,559 (GRCm39) |
E168K |
unknown |
Het |
| Abca4 |
G |
T |
3: 121,932,230 (GRCm39) |
E295* |
probably null |
Het |
| Abi3 |
T |
C |
11: 95,723,637 (GRCm39) |
I215V |
probably benign |
Het |
| Adhfe1 |
G |
T |
1: 9,620,803 (GRCm39) |
|
probably benign |
Het |
| Akr1a1 |
A |
G |
4: 116,495,156 (GRCm39) |
|
probably benign |
Het |
| Ank |
T |
A |
15: 27,590,447 (GRCm39) |
W344R |
probably null |
Het |
| Cast |
A |
G |
13: 74,894,133 (GRCm39) |
S171P |
probably benign |
Het |
| Ccdc39 |
A |
G |
3: 33,873,955 (GRCm39) |
|
probably null |
Het |
| Cd180 |
T |
A |
13: 102,841,416 (GRCm39) |
L154H |
probably damaging |
Het |
| Cnp |
A |
T |
11: 100,467,342 (GRCm39) |
D95V |
probably benign |
Het |
| Cul1 |
T |
C |
6: 47,461,897 (GRCm39) |
I20T |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,050,440 (GRCm39) |
K3042R |
possibly damaging |
Het |
| Dpy19l1 |
A |
C |
9: 24,393,350 (GRCm39) |
S140A |
possibly damaging |
Het |
| Dpys |
C |
A |
15: 39,656,642 (GRCm39) |
R475L |
probably damaging |
Het |
| Dync1i2 |
A |
G |
2: 71,078,199 (GRCm39) |
N276S |
probably damaging |
Het |
| Ext2 |
T |
C |
2: 93,526,504 (GRCm39) |
S711G |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,129,828 (GRCm39) |
Y223C |
probably damaging |
Het |
| Folh1 |
C |
A |
7: 86,393,633 (GRCm39) |
G360* |
probably null |
Het |
| Garin5b |
T |
C |
7: 4,761,054 (GRCm39) |
R553G |
possibly damaging |
Het |
| Gcat |
T |
C |
15: 78,919,487 (GRCm39) |
S151P |
probably damaging |
Het |
| Gcm2 |
A |
T |
13: 41,256,317 (GRCm39) |
D477E |
probably benign |
Het |
| Git1 |
A |
G |
11: 77,395,869 (GRCm39) |
N468S |
possibly damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,273,272 (GRCm39) |
I622V |
probably benign |
Het |
| Hsd17b13 |
G |
A |
5: 104,113,702 (GRCm39) |
L251F |
probably damaging |
Het |
| Lamc1 |
T |
G |
1: 153,104,523 (GRCm39) |
S59R |
probably damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,922,801 (GRCm39) |
I1366V |
probably benign |
Het |
| Ly9 |
G |
T |
1: 171,421,597 (GRCm39) |
H441Q |
probably benign |
Het |
| Mtcl2 |
A |
G |
2: 156,882,511 (GRCm39) |
F514L |
probably damaging |
Het |
| Myo15b |
G |
A |
11: 115,770,813 (GRCm39) |
|
probably null |
Het |
| Nomo1 |
G |
T |
7: 45,711,237 (GRCm39) |
A639S |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,924,027 (GRCm39) |
D136G |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,674,654 (GRCm39) |
D87E |
probably damaging |
Het |
| Pdpk1 |
A |
T |
17: 24,325,871 (GRCm39) |
D108E |
probably benign |
Het |
| Pex26 |
C |
T |
6: 121,167,084 (GRCm39) |
S231L |
probably damaging |
Het |
| Prpf38b |
G |
A |
3: 108,811,408 (GRCm39) |
|
probably benign |
Het |
| Prpf4b |
A |
T |
13: 35,083,954 (GRCm39) |
M908L |
probably benign |
Het |
| Prps2 |
T |
C |
X: 166,135,288 (GRCm39) |
D183G |
probably damaging |
Het |
| R3hdm1 |
T |
C |
1: 128,112,181 (GRCm39) |
S422P |
probably damaging |
Het |
| Rhox2a |
G |
C |
X: 36,508,962 (GRCm39) |
R43P |
probably benign |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Ryr3 |
T |
A |
2: 112,483,108 (GRCm39) |
N4213I |
probably damaging |
Het |
| Slc7a14 |
A |
G |
3: 31,311,831 (GRCm39) |
V63A |
probably damaging |
Het |
| Sppl2a |
C |
T |
2: 126,762,233 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
A |
6: 48,455,580 (GRCm39) |
W3077R |
probably damaging |
Het |
| Stag1 |
T |
A |
9: 100,678,769 (GRCm39) |
M230K |
probably damaging |
Het |
| Sv2a |
T |
C |
3: 96,098,078 (GRCm39) |
|
probably null |
Het |
| Themis2 |
A |
G |
4: 132,510,287 (GRCm39) |
S638P |
probably benign |
Het |
| Trabd |
A |
G |
15: 88,970,042 (GRCm39) |
Y346C |
probably damaging |
Het |
| Trim38 |
A |
T |
13: 23,966,952 (GRCm39) |
D133V |
probably damaging |
Het |
| Trmt1l |
G |
A |
1: 151,315,320 (GRCm39) |
V16I |
probably benign |
Het |
| Ube2b |
A |
G |
11: 51,886,199 (GRCm39) |
|
probably null |
Het |
| Usp13 |
A |
T |
3: 32,892,073 (GRCm39) |
Q84L |
probably damaging |
Het |
| Vmn1r172 |
G |
T |
7: 23,359,997 (GRCm39) |
G294V |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,693,228 (GRCm39) |
H457Q |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,553,114 (GRCm39) |
I714T |
possibly damaging |
Het |
| Vps8 |
T |
C |
16: 21,318,960 (GRCm39) |
Y602H |
probably damaging |
Het |
| Zbp1 |
G |
A |
2: 173,049,608 (GRCm39) |
P385S |
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 |
|
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 |
|
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'- TAGGTACCTGTAGTGGCCAC -3'
(R):5'- GCTGTGTACTTGCAAAGCGC -3'
Sequencing Primer
(F):5'- TACCTGTAGTGGCCACTGGAAG -3'
(R):5'- AAGCGCAACCTTCTGGATTCCTAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation