Incidental Mutation 'R4594:Llgl1'
| ID |
344269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Llgl1
|
| Ensembl Gene |
ENSMUSG00000020536 |
| Gene Name |
LLGL1 scribble cell polarity complex component |
| Synonyms |
Lgl1 |
| MMRRC Submission |
041810-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4594 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60699723-60714186 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 60706321 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 226
(T226I)
|
| 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: T226I
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536
AA Change: T226I
| 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: T226I
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536
AA Change: T226I
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (66/66) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,575,754 (GRCm38) |
T64A |
probably damaging |
Het |
| 4933427I04Rik |
A |
T |
4: 123,860,538 (GRCm38) |
T82S |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,921,447 (GRCm38) |
I264N |
probably damaging |
Het |
| Alpk1 |
G |
A |
3: 127,683,554 (GRCm38) |
A285V |
probably damaging |
Het |
| Auh |
T |
C |
13: 52,912,966 (GRCm38) |
|
probably benign |
Het |
| BC030499 |
T |
A |
11: 78,291,647 (GRCm38) |
V94D |
possibly damaging |
Het |
| Cacna2d3 |
A |
G |
14: 28,982,346 (GRCm38) |
F826S |
probably benign |
Het |
| Ccdc54 |
G |
T |
16: 50,590,017 (GRCm38) |
Y295* |
probably null |
Het |
| Ctnna3 |
G |
A |
10: 64,586,079 (GRCm38) |
V551I |
probably benign |
Het |
| Diaph3 |
C |
T |
14: 86,986,037 (GRCm38) |
C347Y |
probably damaging |
Het |
| Dnajb5 |
A |
G |
4: 42,950,842 (GRCm38) |
|
probably benign |
Het |
| Dscam |
A |
T |
16: 96,717,996 (GRCm38) |
I847K |
possibly damaging |
Het |
| Fam8a1 |
T |
C |
13: 46,671,266 (GRCm38) |
F243S |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,284,752 (GRCm38) |
I1712V |
possibly damaging |
Het |
| Fgfr1 |
T |
C |
8: 25,573,836 (GRCm38) |
V793A |
probably damaging |
Het |
| Got2 |
T |
C |
8: 95,872,186 (GRCm38) |
E196G |
probably benign |
Het |
| Gsk3b |
G |
A |
16: 38,170,701 (GRCm38) |
C107Y |
possibly damaging |
Het |
| H2-M5 |
T |
C |
17: 36,987,805 (GRCm38) |
T250A |
possibly damaging |
Het |
| Il17f |
T |
A |
1: 20,777,802 (GRCm38) |
T151S |
probably damaging |
Het |
| Ints12 |
A |
G |
3: 133,108,868 (GRCm38) |
N279D |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,658,766 (GRCm38) |
A421V |
probably damaging |
Het |
| Kynu |
T |
A |
2: 43,679,890 (GRCm38) |
S395T |
probably benign |
Het |
| Mael |
T |
A |
1: 166,235,487 (GRCm38) |
Q132L |
probably damaging |
Het |
| Mcpt1 |
A |
T |
14: 56,018,652 (GRCm38) |
R49S |
probably benign |
Het |
| Meioc |
G |
T |
11: 102,674,166 (GRCm38) |
G203C |
probably damaging |
Het |
| Mfsd4b1 |
A |
G |
10: 40,007,317 (GRCm38) |
S46P |
probably benign |
Het |
| Muc6 |
G |
T |
7: 141,638,772 (GRCm38) |
T1996N |
possibly damaging |
Het |
| Mx2 |
C |
A |
16: 97,547,432 (GRCm38) |
Y268* |
probably null |
Het |
| Myom1 |
A |
G |
17: 71,100,074 (GRCm38) |
D1064G |
possibly damaging |
Het |
| Nek11 |
A |
G |
9: 105,392,847 (GRCm38) |
|
probably null |
Het |
| Nfe2 |
A |
G |
15: 103,248,805 (GRCm38) |
L253S |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,196,489 (GRCm38) |
I478T |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,319,482 (GRCm38) |
D529G |
probably damaging |
Het |
| Oard1 |
T |
C |
17: 48,415,239 (GRCm38) |
S88P |
possibly damaging |
Het |
| Olfr1370 |
C |
T |
13: 21,072,522 (GRCm38) |
V260I |
probably benign |
Het |
| Olfr231 |
G |
T |
1: 174,117,320 (GRCm38) |
T232N |
probably damaging |
Het |
| Olfr639 |
T |
C |
7: 104,012,417 (GRCm38) |
D95G |
probably benign |
Het |
| Olfr678 |
T |
C |
7: 105,069,590 (GRCm38) |
V41A |
probably benign |
Het |
| Olfr732 |
G |
A |
14: 50,281,683 (GRCm38) |
T190I |
probably benign |
Het |
| Olfr741 |
A |
G |
14: 50,486,162 (GRCm38) |
R235G |
probably benign |
Het |
| Olfr906 |
A |
C |
9: 38,488,761 (GRCm38) |
H244P |
probably damaging |
Het |
| Osgin1 |
C |
T |
8: 119,445,253 (GRCm38) |
T262I |
possibly damaging |
Het |
| Plcb4 |
A |
T |
2: 136,002,599 (GRCm38) |
M146L |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,767,966 (GRCm38) |
E2456V |
possibly damaging |
Het |
| Ptk2 |
G |
A |
15: 73,206,196 (GRCm38) |
A1004V |
probably damaging |
Het |
| Rab15 |
G |
A |
12: 76,800,671 (GRCm38) |
|
probably benign |
Het |
| Rad51ap2 |
T |
C |
12: 11,457,880 (GRCm38) |
V601A |
probably benign |
Het |
| Rasef |
T |
A |
4: 73,780,389 (GRCm38) |
I12F |
possibly damaging |
Het |
| Rdh14 |
T |
A |
12: 10,394,567 (GRCm38) |
N139K |
probably damaging |
Het |
| Rexo2 |
A |
T |
9: 48,480,417 (GRCm38) |
V46E |
probably damaging |
Het |
| Slmap |
A |
T |
14: 26,465,617 (GRCm38) |
L68H |
probably damaging |
Het |
| Speer3 |
C |
G |
5: 13,796,380 (GRCm38) |
A238G |
possibly damaging |
Het |
| Tmem132e |
T |
C |
11: 82,435,068 (GRCm38) |
I206T |
possibly damaging |
Het |
| Trappc8 |
A |
T |
18: 20,836,948 (GRCm38) |
V995E |
probably benign |
Het |
| Vmn2r12 |
A |
C |
5: 109,086,435 (GRCm38) |
I637S |
probably damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,073,969 (GRCm38) |
F773L |
probably damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,393,662 (GRCm38) |
D548V |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,445,794 (GRCm38) |
N1590D |
probably benign |
Het |
| Zbtb6 |
A |
T |
2: 37,429,042 (GRCm38) |
N291K |
possibly damaging |
Het |
| Zfp119a |
G |
A |
17: 55,866,325 (GRCm38) |
R173C |
probably benign |
Het |
| Zmynd15 |
T |
C |
11: 70,464,182 (GRCm38) |
L335P |
probably damaging |
Het |
|
| Other mutations in Llgl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01137:Llgl1
|
APN |
11 |
60,709,999 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL01400:Llgl1
|
APN |
11 |
60,706,490 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03066:Llgl1
|
APN |
11 |
60,706,034 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL03174:Llgl1
|
APN |
11 |
60,706,210 (GRCm38) |
missense |
probably benign |
0.15 |
|
IGL03306:Llgl1
|
APN |
11 |
60,711,354 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0284:Llgl1
|
UTSW |
11 |
60,712,141 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1137:Llgl1
|
UTSW |
11 |
60,704,733 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1432:Llgl1
|
UTSW |
11 |
60,708,554 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1769:Llgl1
|
UTSW |
11 |
60,707,047 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1786:Llgl1
|
UTSW |
11 |
60,707,240 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1835:Llgl1
|
UTSW |
11 |
60,704,730 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1943:Llgl1
|
UTSW |
11 |
60,706,016 (GRCm38) |
missense |
probably benign |
|
|
R2197:Llgl1
|
UTSW |
11 |
60,710,039 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R2510:Llgl1
|
UTSW |
11 |
60,710,036 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2568:Llgl1
|
UTSW |
11 |
60,708,812 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3690:Llgl1
|
UTSW |
11 |
60,707,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3853:Llgl1
|
UTSW |
11 |
60,707,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4079:Llgl1
|
UTSW |
11 |
60,710,284 (GRCm38) |
splice site |
probably null |
|
|
R4259:Llgl1
|
UTSW |
11 |
60,709,568 (GRCm38) |
missense |
probably benign |
|
|
R4348:Llgl1
|
UTSW |
11 |
60,709,568 (GRCm38) |
missense |
probably benign |
|
|
R4349:Llgl1
|
UTSW |
11 |
60,709,568 (GRCm38) |
missense |
probably benign |
|
|
R4352:Llgl1
|
UTSW |
11 |
60,709,568 (GRCm38) |
missense |
probably benign |
|
|
R4353:Llgl1
|
UTSW |
11 |
60,709,568 (GRCm38) |
missense |
probably benign |
|
|
R4396:Llgl1
|
UTSW |
11 |
60,706,008 (GRCm38) |
missense |
probably benign |
|
|
R4584:Llgl1
|
UTSW |
11 |
60,712,082 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4628:Llgl1
|
UTSW |
11 |
60,709,985 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4651:Llgl1
|
UTSW |
11 |
60,708,651 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4653:Llgl1
|
UTSW |
11 |
60,708,651 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4731:Llgl1
|
UTSW |
11 |
60,706,225 (GRCm38) |
nonsense |
probably null |
|
|
R4869:Llgl1
|
UTSW |
11 |
60,707,210 (GRCm38) |
nonsense |
probably null |
|
|
R4898:Llgl1
|
UTSW |
11 |
60,709,568 (GRCm38) |
missense |
probably benign |
|
|
R4899:Llgl1
|
UTSW |
11 |
60,709,568 (GRCm38) |
missense |
probably benign |
|
|
R4939:Llgl1
|
UTSW |
11 |
60,709,979 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4941:Llgl1
|
UTSW |
11 |
60,709,568 (GRCm38) |
missense |
probably benign |
|
|
R4942:Llgl1
|
UTSW |
11 |
60,709,568 (GRCm38) |
missense |
probably benign |
|
|
R4958:Llgl1
|
UTSW |
11 |
60,711,435 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4995:Llgl1
|
UTSW |
11 |
60,709,724 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4997:Llgl1
|
UTSW |
11 |
60,709,568 (GRCm38) |
missense |
probably benign |
|
|
R5177:Llgl1
|
UTSW |
11 |
60,712,007 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5257:Llgl1
|
UTSW |
11 |
60,711,563 (GRCm38) |
splice site |
probably null |
|
|
R5258:Llgl1
|
UTSW |
11 |
60,711,563 (GRCm38) |
splice site |
probably null |
|
|
R5401:Llgl1
|
UTSW |
11 |
60,706,471 (GRCm38) |
missense |
probably benign |
|
|
R5406:Llgl1
|
UTSW |
11 |
60,713,184 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5432:Llgl1
|
UTSW |
11 |
60,707,623 (GRCm38) |
missense |
probably benign |
|
|
R5587:Llgl1
|
UTSW |
11 |
60,710,342 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5732:Llgl1
|
UTSW |
11 |
60,709,460 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5758:Llgl1
|
UTSW |
11 |
60,708,567 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5879:Llgl1
|
UTSW |
11 |
60,712,980 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6268:Llgl1
|
UTSW |
11 |
60,712,163 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6286:Llgl1
|
UTSW |
11 |
60,709,532 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6455:Llgl1
|
UTSW |
11 |
60,709,660 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6805:Llgl1
|
UTSW |
11 |
60,702,865 (GRCm38) |
missense |
probably benign |
0.25 |
|
R6929:Llgl1
|
UTSW |
11 |
60,710,353 (GRCm38) |
nonsense |
probably null |
|
|
R7274:Llgl1
|
UTSW |
11 |
60,705,986 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7889:Llgl1
|
UTSW |
11 |
60,707,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7986:Llgl1
|
UTSW |
11 |
60,711,395 (GRCm38) |
missense |
probably benign |
0.16 |
|
R8141:Llgl1
|
UTSW |
11 |
60,710,316 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8176:Llgl1
|
UTSW |
11 |
60,706,561 (GRCm38) |
missense |
probably benign |
0.27 |
|
R8223:Llgl1
|
UTSW |
11 |
60,702,822 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8332:Llgl1
|
UTSW |
11 |
60,710,384 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8350:Llgl1
|
UTSW |
11 |
60,712,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8500:Llgl1
|
UTSW |
11 |
60,704,983 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8979:Llgl1
|
UTSW |
11 |
60,710,303 (GRCm38) |
missense |
probably benign |
0.25 |
|
R9155:Llgl1
|
UTSW |
11 |
60,707,108 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9163:Llgl1
|
UTSW |
11 |
60,709,576 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9225:Llgl1
|
UTSW |
11 |
60,710,063 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9234:Llgl1
|
UTSW |
11 |
60,710,130 (GRCm38) |
critical splice donor site |
probably null |
|
|
Z1186:Llgl1
|
UTSW |
11 |
60,713,097 (GRCm38) |
frame shift |
probably null |
|
|
Z1187:Llgl1
|
UTSW |
11 |
60,713,097 (GRCm38) |
frame shift |
probably null |
|
|
Z1188:Llgl1
|
UTSW |
11 |
60,713,097 (GRCm38) |
frame shift |
probably null |
|
|
Z1189:Llgl1
|
UTSW |
11 |
60,713,097 (GRCm38) |
frame shift |
probably null |
|
|
Z1190:Llgl1
|
UTSW |
11 |
60,713,097 (GRCm38) |
frame shift |
probably null |
|
|
Z1191:Llgl1
|
UTSW |
11 |
60,713,097 (GRCm38) |
frame shift |
probably null |
|
|
Z1192:Llgl1
|
UTSW |
11 |
60,713,097 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAGCCCAGATGTGGTTC -3'
(R):5'- CACTGTGTGAGCTGATAATGCTG -3'
Sequencing Primer
(F):5'- GAGGACCCTCCCATTTCTGG -3'
(R):5'- GAGCTGATAATGCTGCTGCCATC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation