Incidental Mutation 'R4899:Llgl1'
ID |
376026 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Llgl1
|
Ensembl Gene |
ENSMUSG00000020536 |
Gene Name |
LLGL1 scribble cell polarity complex component |
Synonyms |
Lgl1 |
MMRRC Submission |
042503-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4899 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
60590549-60605012 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 60600394 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 581
(P581L)
|
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 |
probably benign
Transcript: ENSMUST00000052346
AA Change: P581L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000060749 Gene: ENSMUSG00000020536 AA Change: P581L
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: P581L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000104359 Gene: ENSMUSG00000020536 AA Change: P581L
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154141
|
Meta Mutation Damage Score |
0.0616 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd18 |
C |
G |
3: 40,860,304 (GRCm39) |
|
probably null |
Het |
Adra2c |
A |
T |
5: 35,437,705 (GRCm39) |
Y159F |
probably damaging |
Het |
Alkal2 |
T |
A |
12: 30,934,972 (GRCm39) |
S64T |
probably benign |
Het |
Apbb1ip |
T |
C |
2: 22,713,361 (GRCm39) |
V72A |
unknown |
Het |
Atp13a5 |
A |
G |
16: 29,197,318 (GRCm39) |
L13P |
probably damaging |
Het |
Azin2 |
G |
A |
4: 128,828,446 (GRCm39) |
P254S |
probably benign |
Het |
Bmpr1b |
T |
C |
3: 141,546,444 (GRCm39) |
R481G |
probably damaging |
Het |
Cacna2d4 |
G |
A |
6: 119,245,157 (GRCm39) |
W288* |
probably null |
Het |
Cass4 |
A |
G |
2: 172,269,789 (GRCm39) |
T626A |
probably benign |
Het |
Cep112 |
T |
A |
11: 108,497,110 (GRCm39) |
D683E |
probably damaging |
Het |
Cfap300 |
A |
T |
9: 8,022,494 (GRCm39) |
S243T |
possibly damaging |
Het |
Chat |
G |
T |
14: 32,170,934 (GRCm39) |
S188R |
possibly damaging |
Het |
Cit |
A |
G |
5: 116,001,087 (GRCm39) |
Y162C |
possibly damaging |
Het |
Clca3a1 |
T |
A |
3: 144,443,722 (GRCm39) |
Y676F |
probably damaging |
Het |
Clec2h |
A |
G |
6: 128,652,787 (GRCm39) |
N185D |
probably benign |
Het |
Cnbd2 |
G |
T |
2: 156,181,141 (GRCm39) |
V192F |
probably benign |
Het |
Col6a3 |
C |
A |
1: 90,730,149 (GRCm39) |
G1112V |
probably damaging |
Het |
Csta2 |
A |
T |
16: 36,077,731 (GRCm39) |
Y96F |
possibly damaging |
Het |
Cyp3a25 |
A |
G |
5: 145,914,481 (GRCm39) |
F483S |
possibly damaging |
Het |
Dscam |
T |
C |
16: 96,485,018 (GRCm39) |
E1103G |
probably benign |
Het |
Dync2h1 |
G |
A |
9: 7,131,921 (GRCm39) |
Q1629* |
probably null |
Het |
Enpp6 |
A |
G |
8: 47,440,118 (GRCm39) |
Y38C |
probably damaging |
Het |
Epg5 |
T |
A |
18: 78,028,272 (GRCm39) |
L1271Q |
probably damaging |
Het |
Fam47e |
G |
A |
5: 92,722,528 (GRCm39) |
V75I |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,881,095 (GRCm39) |
D3259G |
probably damaging |
Het |
Fbxw28 |
T |
C |
9: 109,159,921 (GRCm39) |
D211G |
probably damaging |
Het |
Flnc |
A |
G |
6: 29,446,842 (GRCm39) |
N990D |
probably benign |
Het |
Frat1 |
T |
G |
19: 41,818,761 (GRCm39) |
L52R |
probably damaging |
Het |
Ftmt |
C |
G |
18: 52,464,658 (GRCm39) |
|
probably benign |
Het |
H2-M1 |
C |
T |
17: 36,982,112 (GRCm39) |
G163D |
probably benign |
Het |
Hapln1 |
A |
G |
13: 89,749,769 (GRCm39) |
K105E |
possibly damaging |
Het |
Igkv17-127 |
G |
T |
6: 67,838,381 (GRCm39) |
A31S |
probably benign |
Het |
Il6st |
T |
C |
13: 112,637,695 (GRCm39) |
L628P |
probably damaging |
Het |
Kcnj6 |
A |
G |
16: 94,633,472 (GRCm39) |
I213T |
probably damaging |
Het |
Kidins220 |
T |
C |
12: 25,063,442 (GRCm39) |
|
probably null |
Het |
Lama2 |
TTTGCGCATT |
TTT |
10: 26,919,639 (GRCm39) |
|
probably null |
Het |
Mertk |
C |
A |
2: 128,625,845 (GRCm39) |
P660Q |
probably damaging |
Het |
Mrtfa |
A |
G |
15: 80,902,587 (GRCm39) |
Y241H |
probably damaging |
Het |
Mtarc2 |
A |
T |
1: 184,577,821 (GRCm39) |
I65N |
probably damaging |
Het |
Napepld |
A |
G |
5: 21,888,438 (GRCm39) |
Y4H |
probably benign |
Het |
Ncam1 |
T |
A |
9: 49,456,551 (GRCm39) |
|
probably null |
Het |
Nuak2 |
A |
T |
1: 132,252,724 (GRCm39) |
K93* |
probably null |
Het |
Oat |
A |
T |
7: 132,165,951 (GRCm39) |
D211E |
probably benign |
Het |
Or1j19 |
A |
G |
2: 36,676,810 (GRCm39) |
Q91R |
probably benign |
Het |
Or2aj6 |
G |
A |
16: 19,442,950 (GRCm39) |
A300V |
probably benign |
Het |
Or4c109 |
A |
C |
2: 88,818,454 (GRCm39) |
L31V |
probably null |
Het |
Or51b17 |
A |
G |
7: 103,542,672 (GRCm39) |
I90T |
possibly damaging |
Het |
Or7a39 |
A |
T |
10: 78,715,041 (GRCm39) |
S12C |
probably benign |
Het |
Pde4dip |
C |
A |
3: 97,616,874 (GRCm39) |
K1789N |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,211,862 (GRCm39) |
I1322V |
possibly damaging |
Het |
Pih1d1 |
A |
G |
7: 44,803,951 (GRCm39) |
|
probably benign |
Het |
Plekhd1 |
T |
C |
12: 80,769,101 (GRCm39) |
S454P |
probably damaging |
Het |
Polr2h |
G |
A |
16: 20,539,303 (GRCm39) |
V89M |
probably damaging |
Het |
Pptc7 |
G |
A |
5: 122,422,780 (GRCm39) |
G17S |
possibly damaging |
Het |
Pramel55 |
T |
C |
5: 95,949,586 (GRCm39) |
V111A |
probably benign |
Het |
Ptpra |
T |
C |
2: 130,386,356 (GRCm39) |
V602A |
probably damaging |
Het |
Rnf123 |
C |
T |
9: 107,940,879 (GRCm39) |
R654H |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Samsn1 |
A |
G |
16: 75,675,991 (GRCm39) |
S135P |
probably damaging |
Het |
Sgsm3 |
A |
G |
15: 80,890,980 (GRCm39) |
N147S |
probably benign |
Het |
Shoc1 |
T |
C |
4: 59,062,640 (GRCm39) |
Y872C |
probably damaging |
Het |
Slc22a29 |
T |
C |
19: 8,138,933 (GRCm39) |
T510A |
probably benign |
Het |
Smc4 |
T |
A |
3: 68,939,144 (GRCm39) |
H978Q |
probably damaging |
Het |
Sox7 |
G |
A |
14: 64,185,927 (GRCm39) |
R321H |
probably damaging |
Het |
Spred3 |
T |
C |
7: 28,861,258 (GRCm39) |
D307G |
probably damaging |
Het |
Syne2 |
T |
A |
12: 75,900,875 (GRCm39) |
D11E |
probably benign |
Het |
Tob1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
11: 94,105,278 (GRCm39) |
|
probably benign |
Het |
Top2b |
A |
T |
14: 16,387,313 (GRCm38) |
I134F |
probably damaging |
Het |
Tspan1 |
T |
A |
4: 116,020,563 (GRCm39) |
R206* |
probably null |
Het |
Ttc3 |
A |
T |
16: 94,230,314 (GRCm39) |
N837I |
probably damaging |
Het |
Vmn1r36 |
T |
C |
6: 66,693,549 (GRCm39) |
T72A |
possibly damaging |
Het |
Vmn2r10 |
A |
G |
5: 109,151,324 (GRCm39) |
S97P |
probably damaging |
Het |
Zfp2 |
T |
A |
11: 50,790,841 (GRCm39) |
I401F |
probably damaging |
Het |
Zfp629 |
T |
C |
7: 127,210,190 (GRCm39) |
T540A |
possibly damaging |
Het |
Zfr |
G |
A |
15: 12,166,231 (GRCm39) |
V834I |
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 |
|
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'- GCTCAGTGAAGGCTTTGGTAC -3'
(R):5'- ACCTCGTGCCACATACCTAG -3'
Sequencing Primer
(F):5'- ACATTGTAGGTATTCAGGGGCC -3'
(R):5'- TACCTAGCCAGCACAGGG -3'
|
Posted On |
2016-03-17 |