Incidental Mutation 'R8223:Llgl1'
ID |
636842 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Llgl1
|
Ensembl Gene |
ENSMUSG00000020536 |
Gene Name |
LLGL1 scribble cell polarity complex component |
Synonyms |
Lgl1 |
MMRRC Submission |
067641-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8223 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
60590549-60605012 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 60593648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 40
(L40F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060749
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052346]
[ENSMUST00000108719]
|
AlphaFold |
Q80Y17 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052346
AA Change: L40F
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000060749 Gene: ENSMUSG00000020536 AA Change: L40F
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: L40F
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104359 Gene: ENSMUSG00000020536 AA Change: L40F
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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.2%
|
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 |
Adgre1 |
T |
A |
17: 57,668,692 (GRCm39) |
W18R |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,620,222 (GRCm39) |
Y2417* |
probably null |
Het |
Apold1 |
T |
A |
6: 134,961,148 (GRCm39) |
S201T |
probably benign |
Het |
Arhgap31 |
G |
A |
16: 38,424,084 (GRCm39) |
P661S |
probably benign |
Het |
Cacfd1 |
T |
C |
2: 26,908,396 (GRCm39) |
V110A |
possibly damaging |
Het |
Capn2 |
A |
G |
1: 182,310,099 (GRCm39) |
|
probably null |
Het |
Chadl |
T |
C |
15: 81,579,335 (GRCm39) |
E98G |
possibly damaging |
Het |
Crxos |
T |
C |
7: 15,631,394 (GRCm39) |
Y31H |
probably benign |
Het |
Cyp4f14 |
A |
C |
17: 33,130,627 (GRCm39) |
|
probably null |
Het |
Cyp4f39 |
T |
C |
17: 32,689,839 (GRCm39) |
I95T |
probably benign |
Het |
Dars1 |
T |
C |
1: 128,299,961 (GRCm39) |
E341G |
probably benign |
Het |
Dchs1 |
G |
T |
7: 105,411,824 (GRCm39) |
R1431S |
possibly damaging |
Het |
Dop1a |
T |
A |
9: 86,400,345 (GRCm39) |
H1001Q |
probably damaging |
Het |
Efemp1 |
T |
C |
11: 28,804,528 (GRCm39) |
Y19H |
probably benign |
Het |
Eml1 |
T |
G |
12: 108,502,569 (GRCm39) |
F726V |
probably benign |
Het |
Fdx1 |
A |
T |
9: 51,859,921 (GRCm39) |
D136E |
probably benign |
Het |
Ganab |
A |
T |
19: 8,888,192 (GRCm39) |
D446V |
probably damaging |
Het |
Gusb |
A |
G |
5: 130,018,953 (GRCm39) |
V561A |
probably benign |
Het |
Hcn1 |
A |
T |
13: 118,010,406 (GRCm39) |
D328V |
unknown |
Het |
Hdgfl1 |
A |
G |
13: 26,954,047 (GRCm39) |
Y9H |
probably damaging |
Het |
Hes3 |
T |
A |
4: 152,371,572 (GRCm39) |
S101C |
probably damaging |
Het |
Igkv2-112 |
T |
C |
6: 68,197,579 (GRCm39) |
S84P |
probably benign |
Het |
Ints9 |
C |
T |
14: 65,257,809 (GRCm39) |
P330S |
possibly damaging |
Het |
Kdm7a |
A |
T |
6: 39,126,235 (GRCm39) |
N583K |
probably damaging |
Het |
Klhl10 |
C |
T |
11: 100,338,227 (GRCm39) |
T322M |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,529,216 (GRCm39) |
V1545D |
possibly damaging |
Het |
Laptm5 |
T |
C |
4: 130,653,511 (GRCm39) |
|
probably null |
Het |
Ldlr |
A |
G |
9: 21,658,546 (GRCm39) |
T833A |
probably damaging |
Het |
Lrrc14 |
T |
C |
15: 76,598,756 (GRCm39) |
L464S |
probably damaging |
Het |
Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
Lysmd3 |
T |
A |
13: 81,817,386 (GRCm39) |
L121H |
|
Het |
Map2 |
T |
C |
1: 66,464,649 (GRCm39) |
S1680P |
probably damaging |
Het |
Med12l |
T |
C |
3: 58,993,784 (GRCm39) |
V583A |
possibly damaging |
Het |
Mfsd4b5 |
A |
G |
10: 39,846,246 (GRCm39) |
Y445H |
probably damaging |
Het |
Morf4l1 |
G |
A |
9: 89,979,475 (GRCm39) |
P169S |
probably benign |
Het |
Nab2 |
C |
A |
10: 127,498,645 (GRCm39) |
V475L |
probably benign |
Het |
Ola1 |
A |
G |
2: 72,929,694 (GRCm39) |
L303P |
probably damaging |
Het |
Or1j19 |
T |
A |
2: 36,677,409 (GRCm39) |
Y291N |
|
Het |
Or1o2 |
T |
C |
17: 37,542,727 (GRCm39) |
D178G |
possibly damaging |
Het |
Or7e166 |
T |
C |
9: 19,624,705 (GRCm39) |
I194T |
probably benign |
Het |
Or9i2 |
G |
T |
19: 13,816,225 (GRCm39) |
T104K |
probably damaging |
Het |
Pdlim3 |
A |
T |
8: 46,353,562 (GRCm39) |
H99L |
possibly damaging |
Het |
Plagl2 |
G |
T |
2: 153,073,461 (GRCm39) |
T480N |
probably benign |
Het |
Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
Ptprq |
C |
T |
10: 107,535,499 (GRCm39) |
R422Q |
probably benign |
Het |
Rad18 |
T |
A |
6: 112,664,982 (GRCm39) |
R51* |
probably null |
Het |
Rpap3 |
T |
A |
15: 97,589,185 (GRCm39) |
T250S |
probably benign |
Het |
Serpinb11 |
T |
C |
1: 107,305,262 (GRCm39) |
Y213H |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,686,080 (GRCm39) |
F201L |
possibly damaging |
Het |
Slc25a4 |
A |
G |
8: 46,663,896 (GRCm39) |
S22P |
probably damaging |
Het |
Slfn1 |
T |
A |
11: 83,012,245 (GRCm39) |
N120K |
probably damaging |
Het |
Smok3c |
T |
C |
5: 138,063,655 (GRCm39) |
S381P |
probably benign |
Het |
Sry |
T |
A |
Y: 2,663,204 (GRCm39) |
Q152L |
unknown |
Het |
Taar2 |
T |
A |
10: 23,817,248 (GRCm39) |
W263R |
probably damaging |
Het |
Thnsl1 |
T |
A |
2: 21,216,924 (GRCm39) |
V226E |
probably benign |
Het |
Tmeff2 |
T |
C |
1: 51,172,279 (GRCm39) |
|
probably null |
Het |
Tox |
A |
G |
4: 6,842,408 (GRCm39) |
Y41H |
probably damaging |
Het |
Trank1 |
T |
A |
9: 111,194,957 (GRCm39) |
Y994N |
probably damaging |
Het |
Trim9 |
C |
T |
12: 70,297,789 (GRCm39) |
A713T |
probably damaging |
Het |
Tub |
T |
A |
7: 108,628,533 (GRCm39) |
M393K |
probably benign |
Het |
Ube4a |
A |
G |
9: 44,871,333 (GRCm39) |
L22P |
possibly damaging |
Het |
Usp47 |
A |
G |
7: 111,703,583 (GRCm39) |
K1165R |
probably damaging |
Het |
Usp6nl |
T |
A |
2: 6,435,327 (GRCm39) |
I362K |
probably damaging |
Het |
Vmn1r217 |
T |
C |
13: 23,298,369 (GRCm39) |
I178V |
probably benign |
Het |
Vmn1r45 |
T |
A |
6: 89,910,074 (GRCm39) |
T299S |
probably damaging |
Het |
Vmn2r5 |
A |
T |
3: 64,398,726 (GRCm39) |
L751* |
probably null |
Het |
Xkr8 |
G |
A |
4: 132,458,246 (GRCm39) |
P144L |
probably damaging |
Het |
Zfpm2 |
T |
C |
15: 40,616,355 (GRCm39) |
I35T |
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 |
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'- GCATCGACATGGACAATACTCAG -3'
(R):5'- CGAAAGGAGTCATCACAGGC -3'
Sequencing Primer
(F):5'- AATACTCAGGTCCCAGGTGCTATC -3'
(R):5'- GGAGTCATCACAGGCACACAG -3'
|
Posted On |
2020-07-13 |