Incidental Mutation 'R6805:Llgl1'
| ID |
533544 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Llgl1
|
| Ensembl Gene |
ENSMUSG00000020536 |
| Gene Name |
LLGL1 scribble cell polarity complex component |
| Synonyms |
Lgl1 |
| MMRRC Submission |
044918-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6805 (G1)
|
| Quality Score |
219.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60590549-60605012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60593691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 55
(S55T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052346]
[ENSMUST00000108719]
|
| AlphaFold |
Q80Y17 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052346
AA Change: S55T
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536
AA Change: S55T
| 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: S55T
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536
AA Change: S55T
| 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 |
|
| Meta Mutation Damage Score |
0.0717 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 97.1%
|
| Validation Efficiency |
98% (62/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,946,744 (GRCm39) |
T214A |
possibly damaging |
Het |
| A930009A15Rik |
G |
T |
10: 115,415,810 (GRCm39) |
|
probably benign |
Het |
| Aadac |
A |
C |
3: 59,944,757 (GRCm39) |
D143A |
probably benign |
Het |
| Acot10 |
T |
G |
15: 20,665,452 (GRCm39) |
T430P |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,865,253 (GRCm39) |
T197A |
possibly damaging |
Het |
| Bbs1 |
A |
G |
19: 4,950,643 (GRCm39) |
I200T |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cadps |
G |
A |
14: 12,467,103 (GRCm38) |
A943V |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,838,673 (GRCm39) |
E48G |
probably damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,724,428 (GRCm39) |
C211S |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,890,073 (GRCm39) |
L1429P |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,273,790 (GRCm39) |
V2591A |
probably benign |
Het |
| Cul2 |
T |
G |
18: 3,421,263 (GRCm39) |
Y196D |
probably damaging |
Het |
| D630023F18Rik |
T |
C |
1: 65,156,365 (GRCm39) |
S43G |
probably benign |
Het |
| Ddx39a |
G |
A |
8: 84,449,766 (GRCm39) |
R427Q |
probably damaging |
Het |
| Def6 |
A |
G |
17: 28,442,691 (GRCm39) |
T285A |
probably damaging |
Het |
| Defb21 |
T |
A |
2: 152,416,789 (GRCm39) |
D88E |
probably benign |
Het |
| Defb6 |
A |
G |
8: 19,278,117 (GRCm39) |
K63R |
probably benign |
Het |
| Dnph1 |
T |
C |
17: 46,809,670 (GRCm39) |
S112P |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,564,407 (GRCm39) |
I467L |
probably benign |
Het |
| Dspp |
C |
A |
5: 104,323,716 (GRCm39) |
H286Q |
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,253,501 (GRCm39) |
T459S |
probably benign |
Het |
| Faf1 |
T |
C |
4: 109,719,049 (GRCm39) |
L385P |
probably damaging |
Het |
| Fbxw21 |
C |
A |
9: 108,986,633 (GRCm39) |
R82L |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,222,437 (GRCm39) |
V2048A |
probably benign |
Het |
| Galnt5 |
A |
T |
2: 57,925,311 (GRCm39) |
D864V |
possibly damaging |
Het |
| Gata6 |
T |
G |
18: 11,054,460 (GRCm39) |
S130A |
possibly damaging |
Het |
| Gbf1 |
G |
T |
19: 46,250,946 (GRCm39) |
R434L |
probably damaging |
Het |
| Gga3 |
A |
G |
11: 115,476,588 (GRCm39) |
F709L |
probably damaging |
Het |
| Hcar1 |
A |
G |
5: 124,017,193 (GRCm39) |
V166A |
probably benign |
Het |
| Hexa |
T |
A |
9: 59,471,220 (GRCm39) |
N491K |
possibly damaging |
Het |
| Hpse2 |
A |
T |
19: 43,282,760 (GRCm39) |
C164* |
probably null |
Het |
| Ifi202b |
T |
C |
1: 173,802,555 (GRCm39) |
Y93C |
probably damaging |
Het |
| Iftap |
T |
C |
2: 101,396,804 (GRCm39) |
K192E |
probably benign |
Het |
| Iscu |
T |
A |
5: 113,913,304 (GRCm39) |
I79N |
probably damaging |
Het |
| Jmjd7 |
T |
A |
2: 119,861,804 (GRCm39) |
Y182* |
probably null |
Het |
| Jup |
A |
T |
11: 100,274,284 (GRCm39) |
D135E |
probably benign |
Het |
| Kit |
T |
A |
5: 75,813,468 (GRCm39) |
I881N |
probably damaging |
Het |
| Lonp2 |
G |
A |
8: 87,435,724 (GRCm39) |
M653I |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,711,517 (GRCm39) |
Y307H |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,169,622 (GRCm39) |
M1914K |
possibly damaging |
Het |
| Ms4a1 |
A |
G |
19: 11,230,537 (GRCm39) |
|
probably null |
Het |
| Naip1 |
A |
G |
13: 100,563,849 (GRCm39) |
S439P |
probably benign |
Het |
| Nrg1 |
T |
C |
8: 32,311,292 (GRCm39) |
R476G |
probably damaging |
Het |
| Or10ag59 |
T |
A |
2: 87,405,262 (GRCm39) |
|
probably null |
Het |
| Or7g20 |
G |
T |
9: 18,946,597 (GRCm39) |
M59I |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,729,026 (GRCm39) |
|
probably null |
Het |
| Phf12 |
G |
A |
11: 77,918,199 (GRCm39) |
G804R |
probably damaging |
Het |
| Pou6f2 |
T |
C |
13: 18,414,074 (GRCm39) |
T234A |
|
Het |
| Prune2 |
A |
T |
19: 17,097,954 (GRCm39) |
I1153L |
probably benign |
Het |
| Ptprc |
C |
T |
1: 137,995,623 (GRCm39) |
|
probably null |
Het |
| Qpctl |
T |
C |
7: 18,883,079 (GRCm39) |
Q11R |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,676,092 (GRCm39) |
K103E |
possibly damaging |
Het |
| Srcin1 |
T |
A |
11: 97,442,806 (GRCm39) |
|
probably null |
Het |
| St6galnac1 |
G |
T |
11: 116,659,770 (GRCm39) |
A181D |
probably damaging |
Het |
| Stk36 |
T |
C |
1: 74,661,398 (GRCm39) |
V475A |
probably benign |
Het |
| Tbc1d21 |
T |
C |
9: 58,268,571 (GRCm39) |
T263A |
possibly damaging |
Het |
| Tex24 |
A |
T |
8: 27,835,028 (GRCm39) |
K185N |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,917,127 (GRCm39) |
V2174E |
possibly damaging |
Het |
| Tollip |
A |
G |
7: 141,444,582 (GRCm39) |
S57P |
probably benign |
Het |
| Zbtb49 |
A |
G |
5: 38,370,585 (GRCm39) |
|
probably benign |
Het |
| Zfp758 |
A |
G |
17: 22,580,650 (GRCm39) |
T30A |
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 |
|
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'- AATACTCAGGTCCCAGGTGC -3'
(R):5'- GTTACTGCAAACCGACCTCC -3'
Sequencing Primer
(F):5'- TCAGGTCCCAGGTGCTATCC -3'
(R):5'- CCGACCTCCCCTCCAATC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation