Incidental Mutation 'R1432:Llgl1'
ID |
162328 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Llgl1
|
Ensembl Gene |
ENSMUSG00000020536 |
Gene Name |
LLGL1 scribble cell polarity complex component |
Synonyms |
Lgl1 |
MMRRC Submission |
039487-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1432 (G1)
|
Quality Score |
168 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
60590549-60605012 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 60599380 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 454
(G454C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104359
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052346]
[ENSMUST00000108719]
|
AlphaFold |
Q80Y17 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052346
AA Change: G454C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060749 Gene: ENSMUSG00000020536 AA Change: G454C
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 damaging
Transcript: ENSMUST00000108719
AA Change: G454C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104359 Gene: ENSMUSG00000020536 AA Change: G454C
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 |
0.9612 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.1%
|
Validation Efficiency |
98% (90/92) |
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
G |
12: 71,217,361 (GRCm39) |
|
probably null |
Het |
9130401M01Rik |
A |
T |
15: 57,892,256 (GRCm39) |
L117Q |
probably damaging |
Het |
Abcb1b |
A |
G |
5: 8,887,771 (GRCm39) |
K886E |
possibly damaging |
Het |
Acaa2 |
A |
T |
18: 74,920,198 (GRCm39) |
I9F |
probably damaging |
Het |
Acap2 |
A |
T |
16: 30,929,901 (GRCm39) |
S386T |
probably damaging |
Het |
Acsm2 |
A |
T |
7: 119,172,798 (GRCm39) |
I138F |
possibly damaging |
Het |
Agl |
T |
C |
3: 116,540,342 (GRCm39) |
Y1424C |
probably damaging |
Het |
Aoc1l1 |
T |
A |
6: 48,952,588 (GRCm39) |
F171Y |
probably damaging |
Het |
Apc2 |
T |
C |
10: 80,148,183 (GRCm39) |
V1079A |
probably benign |
Het |
Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
Armc8 |
C |
T |
9: 99,405,185 (GRCm39) |
|
probably benign |
Het |
Catsperb |
A |
G |
12: 101,588,476 (GRCm39) |
Y953C |
probably damaging |
Het |
Cdk13 |
G |
A |
13: 17,893,001 (GRCm39) |
A720V |
probably damaging |
Het |
Chka |
T |
C |
19: 3,924,809 (GRCm39) |
|
probably benign |
Het |
Clcc1 |
T |
C |
3: 108,575,418 (GRCm39) |
I165T |
probably benign |
Het |
Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
Dip2c |
C |
A |
13: 9,603,340 (GRCm39) |
P297Q |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 117,914,153 (GRCm39) |
W4429R |
probably damaging |
Het |
Dram2 |
T |
C |
3: 106,478,082 (GRCm39) |
V138A |
possibly damaging |
Het |
Dus4l |
T |
C |
12: 31,698,770 (GRCm39) |
N78S |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Ebf1 |
T |
C |
11: 44,895,533 (GRCm39) |
|
probably benign |
Het |
Epm2a |
T |
A |
10: 11,266,587 (GRCm39) |
Y111N |
probably damaging |
Het |
Gm773 |
T |
C |
X: 55,247,377 (GRCm39) |
T52A |
probably benign |
Het |
Gpam |
C |
A |
19: 55,067,693 (GRCm39) |
M483I |
probably damaging |
Het |
Gpr12 |
T |
C |
5: 146,520,235 (GRCm39) |
H229R |
probably damaging |
Het |
Gpr149 |
T |
C |
3: 62,438,439 (GRCm39) |
T573A |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Hells |
T |
A |
19: 38,945,628 (GRCm39) |
|
probably null |
Het |
Herc1 |
T |
A |
9: 66,372,751 (GRCm39) |
N3102K |
probably benign |
Het |
Herc3 |
A |
T |
6: 58,893,827 (GRCm39) |
T968S |
possibly damaging |
Het |
Ift88 |
A |
G |
14: 57,674,736 (GRCm39) |
Y69C |
probably benign |
Het |
Incenp |
G |
A |
19: 9,862,890 (GRCm39) |
T388M |
unknown |
Het |
Jrkl |
A |
G |
9: 13,245,337 (GRCm39) |
F108S |
probably benign |
Het |
Khdc1a |
A |
G |
1: 21,420,542 (GRCm39) |
E54G |
possibly damaging |
Het |
Kif6 |
T |
A |
17: 49,927,728 (GRCm39) |
F58L |
probably damaging |
Het |
Klk14 |
T |
C |
7: 43,344,342 (GRCm39) |
S218P |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,655,319 (GRCm39) |
M19T |
probably benign |
Het |
Lyrm4 |
A |
G |
13: 36,276,898 (GRCm39) |
V33A |
probably benign |
Het |
Mcam |
C |
T |
9: 44,052,588 (GRCm39) |
R606C |
probably damaging |
Het |
Mgam |
T |
A |
6: 40,733,301 (GRCm39) |
M692K |
probably damaging |
Het |
Mmp28 |
C |
T |
11: 83,333,765 (GRCm39) |
R392H |
probably damaging |
Het |
Mpdz |
G |
A |
4: 81,210,788 (GRCm39) |
T1699M |
probably damaging |
Het |
Mrps11 |
T |
C |
7: 78,433,310 (GRCm39) |
|
probably benign |
Het |
Mrtfb |
A |
G |
16: 13,218,866 (GRCm39) |
N504S |
probably benign |
Het |
Msmo1 |
A |
G |
8: 65,180,650 (GRCm39) |
|
probably benign |
Het |
Mst1 |
A |
G |
9: 107,961,403 (GRCm39) |
E571G |
probably benign |
Het |
Myh14 |
T |
C |
7: 44,265,723 (GRCm39) |
E1585G |
probably damaging |
Het |
Myrfl |
A |
G |
10: 116,613,332 (GRCm39) |
C824R |
probably damaging |
Het |
Ncapd3 |
C |
T |
9: 26,981,168 (GRCm39) |
|
probably benign |
Het |
Nlrp4a |
G |
GGTTCTTC |
7: 26,163,622 (GRCm39) |
|
probably null |
Het |
Nos1 |
C |
T |
5: 118,087,684 (GRCm39) |
|
probably benign |
Het |
Notch3 |
T |
C |
17: 32,383,198 (GRCm39) |
S47G |
probably benign |
Het |
Npsr1 |
A |
G |
9: 24,221,371 (GRCm39) |
Y122C |
probably damaging |
Het |
Or10ak12 |
T |
C |
4: 118,666,435 (GRCm39) |
M209V |
probably benign |
Het |
Or1j11 |
C |
T |
2: 36,311,655 (GRCm39) |
L82F |
probably damaging |
Het |
Or5a1 |
G |
T |
19: 12,097,603 (GRCm39) |
R158S |
possibly damaging |
Het |
Or6c1b |
C |
T |
10: 129,272,807 (GRCm39) |
T42I |
probably damaging |
Het |
Or6k2 |
T |
A |
1: 173,986,483 (GRCm39) |
V48E |
possibly damaging |
Het |
Or8b9 |
T |
A |
9: 37,766,548 (GRCm39) |
L145M |
possibly damaging |
Het |
Otog |
G |
T |
7: 45,950,007 (GRCm39) |
V2490F |
probably damaging |
Het |
Pibf1 |
T |
C |
14: 99,350,425 (GRCm39) |
V191A |
probably benign |
Het |
Pip |
A |
G |
6: 41,826,852 (GRCm39) |
M66V |
probably benign |
Het |
Plxna2 |
C |
T |
1: 194,449,771 (GRCm39) |
R830C |
probably benign |
Het |
Prkca |
A |
T |
11: 107,830,346 (GRCm39) |
V248E |
probably benign |
Het |
Prmt7 |
T |
A |
8: 106,963,916 (GRCm39) |
L253* |
probably null |
Het |
Prrc2a |
G |
T |
17: 35,372,888 (GRCm39) |
|
probably benign |
Het |
Rasgrf1 |
A |
G |
9: 89,894,853 (GRCm39) |
D1091G |
probably benign |
Het |
Rbm7 |
C |
A |
9: 48,401,245 (GRCm39) |
G161V |
probably benign |
Het |
Scn1a |
A |
T |
2: 66,152,773 (GRCm39) |
I736N |
probably damaging |
Het |
Skint6 |
A |
G |
4: 112,726,721 (GRCm39) |
|
probably benign |
Het |
Slc22a2 |
C |
T |
17: 12,803,195 (GRCm39) |
H10Y |
possibly damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Stam2 |
A |
G |
2: 52,604,821 (GRCm39) |
|
probably benign |
Het |
Stk40 |
T |
C |
4: 126,030,626 (GRCm39) |
L282P |
probably damaging |
Het |
Tas2r110 |
A |
G |
6: 132,845,331 (GRCm39) |
N121D |
probably damaging |
Het |
Tbc1d32 |
A |
G |
10: 55,893,758 (GRCm39) |
Y1272H |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,665,970 (GRCm39) |
F164S |
probably damaging |
Het |
Tmem131l |
T |
C |
3: 83,836,021 (GRCm39) |
D696G |
probably damaging |
Het |
Trdmt1 |
T |
C |
2: 13,524,657 (GRCm39) |
Y266C |
probably damaging |
Het |
Trim5 |
G |
T |
7: 103,928,726 (GRCm39) |
H72N |
probably benign |
Het |
Trim5 |
A |
C |
7: 103,928,728 (GRCm39) |
L71R |
probably benign |
Het |
Twf2 |
T |
A |
9: 106,092,012 (GRCm39) |
|
probably benign |
Het |
Ubap2l |
T |
C |
3: 89,926,635 (GRCm39) |
T580A |
probably benign |
Het |
Ugt1a10 |
C |
T |
1: 88,143,982 (GRCm39) |
R201C |
probably damaging |
Het |
Unc5a |
A |
G |
13: 55,152,285 (GRCm39) |
|
probably benign |
Het |
Vmn2r85 |
T |
C |
10: 130,261,155 (GRCm39) |
N394S |
possibly damaging |
Het |
Wrn |
A |
T |
8: 33,809,169 (GRCm39) |
|
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 |
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 |
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'- TCCAACCTGTTCAGAAGGCTCTCG -3'
(R):5'- CTGTGTACTTGCAAAGCGCAACC -3'
Sequencing Primer
(F):5'- CGGGGCATGAGATTGTGTG -3'
(R):5'- TCATCACTGTAGGGATCAAAGC -3'
|
Posted On |
2014-03-14 |