Incidental Mutation 'R5177:Llgl1'
| ID |
399621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Llgl1
|
| Ensembl Gene |
ENSMUSG00000020536 |
| Gene Name |
LLGL1 scribble cell polarity complex component |
| Synonyms |
Lgl1 |
| MMRRC Submission |
042757-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5177 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60590549-60605012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 60602833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 836
(T836I)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000052346
AA Change: T836I
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536
AA Change: T836I
| 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: T836I
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536
AA Change: T836I
| 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
|
| Meta Mutation Damage Score |
0.1263 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
97% (71/73) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,115,639 (GRCm39) |
R575Q |
probably damaging |
Het |
| Arhgap22 |
T |
G |
14: 33,088,650 (GRCm39) |
V377G |
probably benign |
Het |
| Asic4 |
T |
C |
1: 75,427,483 (GRCm39) |
I3T |
probably damaging |
Het |
| Atp2b4 |
T |
C |
1: 133,656,506 (GRCm39) |
T715A |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,103,992 (GRCm39) |
L464P |
possibly damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,917,508 (GRCm39) |
H283L |
probably damaging |
Het |
| Cfap91 |
A |
G |
16: 38,152,683 (GRCm39) |
S176P |
probably benign |
Het |
| Cfb |
A |
G |
17: 35,078,002 (GRCm39) |
V976A |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,595,989 (GRCm39) |
T1250A |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
| Dcbld1 |
T |
A |
10: 52,180,730 (GRCm39) |
D131E |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,026,651 (GRCm39) |
S1920P |
probably damaging |
Het |
| Dnajc13 |
G |
A |
9: 104,108,185 (GRCm39) |
H197Y |
probably benign |
Het |
| Dpy19l1 |
C |
T |
9: 24,349,924 (GRCm39) |
|
probably null |
Het |
| Ears2 |
A |
G |
7: 121,643,683 (GRCm39) |
|
probably benign |
Het |
| Epgn |
A |
C |
5: 91,176,136 (GRCm39) |
|
probably benign |
Het |
| Ern1 |
T |
C |
11: 106,302,601 (GRCm39) |
T418A |
probably benign |
Het |
| F12 |
G |
A |
13: 55,567,981 (GRCm39) |
P476S |
probably benign |
Het |
| Gal3st2c |
C |
T |
1: 93,936,930 (GRCm39) |
Q292* |
probably null |
Het |
| Galnt7 |
C |
A |
8: 58,037,061 (GRCm39) |
Q109H |
possibly damaging |
Het |
| Gimap1 |
G |
T |
6: 48,720,032 (GRCm39) |
G215W |
probably damaging |
Het |
| Gm28042 |
T |
A |
2: 119,872,082 (GRCm39) |
|
probably null |
Het |
| Gm5414 |
A |
G |
15: 101,534,252 (GRCm39) |
I284T |
possibly damaging |
Het |
| Hddc3 |
A |
G |
7: 79,992,914 (GRCm39) |
E10G |
probably damaging |
Het |
| Hmgxb3 |
T |
C |
18: 61,305,266 (GRCm39) |
K31E |
probably damaging |
Het |
| Hspg2 |
A |
C |
4: 137,246,083 (GRCm39) |
Y989S |
probably damaging |
Het |
| Kif12 |
G |
A |
4: 63,086,141 (GRCm39) |
T402M |
probably benign |
Het |
| Klhdc4 |
A |
T |
8: 122,540,529 (GRCm39) |
L115* |
probably null |
Het |
| Lama2 |
C |
T |
10: 27,066,699 (GRCm39) |
V1061M |
possibly damaging |
Het |
| Map4k4 |
A |
G |
1: 40,025,922 (GRCm39) |
D304G |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,433,660 (GRCm39) |
Q915R |
possibly damaging |
Het |
| Myo18a |
A |
G |
11: 77,755,668 (GRCm39) |
|
probably benign |
Het |
| Myorg |
C |
A |
4: 41,498,407 (GRCm39) |
E408* |
probably null |
Het |
| Nbn |
A |
T |
4: 15,965,132 (GRCm39) |
|
probably null |
Het |
| Nek8 |
G |
A |
11: 78,061,297 (GRCm39) |
Q383* |
probably null |
Het |
| Nme7 |
T |
G |
1: 164,208,245 (GRCm39) |
Y304* |
probably null |
Het |
| Nol8 |
A |
T |
13: 49,814,588 (GRCm39) |
H214L |
probably benign |
Het |
| Nostrin |
A |
T |
2: 69,006,098 (GRCm39) |
I261F |
possibly damaging |
Het |
| Oprk1 |
T |
G |
1: 5,672,897 (GRCm39) |
C345G |
probably damaging |
Het |
| Or13a18 |
A |
G |
7: 140,190,102 (GRCm39) |
T8A |
probably benign |
Het |
| Or52j3 |
A |
T |
7: 102,836,710 (GRCm39) |
I301L |
probably benign |
Het |
| Polrmt |
T |
C |
10: 79,573,310 (GRCm39) |
S998G |
probably benign |
Het |
| Ppp1r12c |
T |
A |
7: 4,487,495 (GRCm39) |
R393* |
probably null |
Het |
| Prpf3 |
T |
A |
3: 95,757,036 (GRCm39) |
|
probably benign |
Het |
| Rabl6 |
T |
C |
2: 25,475,385 (GRCm39) |
M563V |
probably benign |
Het |
| Rasa2 |
C |
A |
9: 96,426,844 (GRCm39) |
E775* |
probably null |
Het |
| Rc3h1 |
G |
T |
1: 160,779,222 (GRCm39) |
V552L |
probably damaging |
Het |
| Rhot1 |
A |
T |
11: 80,137,592 (GRCm39) |
N365Y |
possibly damaging |
Het |
| Rimbp3 |
G |
A |
16: 17,027,781 (GRCm39) |
V402M |
possibly damaging |
Het |
| Rusc2 |
A |
T |
4: 43,421,805 (GRCm39) |
|
probably null |
Het |
| Slc25a11 |
T |
C |
11: 70,536,643 (GRCm39) |
E141G |
probably damaging |
Het |
| Slc34a1 |
A |
T |
13: 55,548,975 (GRCm39) |
I142F |
probably damaging |
Het |
| Socs6 |
A |
C |
18: 88,887,504 (GRCm39) |
Y470* |
probably null |
Het |
| Sox12 |
A |
T |
2: 152,239,098 (GRCm39) |
L174Q |
unknown |
Het |
| Srl |
A |
G |
16: 4,314,267 (GRCm39) |
|
probably null |
Het |
| Tacc1 |
A |
T |
8: 25,691,237 (GRCm39) |
V22E |
probably damaging |
Het |
| Thsd7a |
A |
T |
6: 12,379,582 (GRCm39) |
C947* |
probably null |
Het |
| Tlr12 |
A |
C |
4: 128,512,169 (GRCm39) |
V27G |
probably damaging |
Het |
| Tmprss4 |
C |
A |
9: 45,085,260 (GRCm39) |
V398L |
probably benign |
Het |
| Trip6 |
T |
C |
5: 137,310,434 (GRCm39) |
D270G |
probably damaging |
Het |
| Uba5 |
T |
G |
9: 103,926,497 (GRCm39) |
N355T |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,006,761 (GRCm39) |
Y1171H |
probably benign |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,664 (GRCm39) |
I695T |
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,871,199 (GRCm39) |
I695L |
probably damaging |
Het |
| Vmn2r79 |
T |
A |
7: 86,651,177 (GRCm39) |
M192K |
probably damaging |
Het |
| Vps16 |
G |
T |
2: 130,285,288 (GRCm39) |
E782* |
probably null |
Het |
| Zfp783 |
A |
G |
6: 47,923,737 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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'- AATGAGGCTCATGGTGAAGCC -3'
(R):5'- AAGCGATGCCACTGATGTC -3'
Sequencing Primer
(F):5'- TCATGGTGAAGCCTGGGC -3'
(R):5'- TCCTTCCGGATACAGGAGTAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation