Incidental Mutation 'R5587:Llgl1'
ID 438835
Institutional Source Beutler Lab
Gene Symbol Llgl1
Ensembl Gene ENSMUSG00000020536
Gene Name LLGL1 scribble cell polarity complex component
Synonyms Lgl1
MMRRC Submission 043141-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5587 (G1)
Quality Score 144
Status Validated
Chromosome 11
Chromosomal Location 60590549-60605012 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 60601168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 702 (M702K)
Ref Sequence ENSEMBL: ENSMUSP00000060749 (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

DomainStartEndE-ValueType
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: M702K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536
AA Change: M702K

DomainStartEndE-ValueType
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: M702K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536
AA Change: M702K

DomainStartEndE-ValueType
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 0.1060 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 96% (78/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,771,170 (GRCm39) R120G probably benign Het
Acad11 A G 9: 103,940,966 (GRCm39) T3A probably benign Het
Adamts18 G A 8: 114,501,992 (GRCm39) Q290* probably null Het
Ahnak A G 19: 8,986,840 (GRCm39) D2708G possibly damaging Het
Asxl3 T A 18: 22,658,304 (GRCm39) C2105S probably benign Het
Atp8b1 A T 18: 64,672,281 (GRCm39) F1028I probably damaging Het
Axdnd1 C G 1: 156,178,982 (GRCm39) W615C probably damaging Het
Bcl3 A T 7: 19,543,559 (GRCm39) Y10* probably null Het
Bmp2 T A 2: 133,396,566 (GRCm39) V74E possibly damaging Het
Ccdc121 G T 5: 31,643,428 (GRCm39) G53W probably benign Het
Ccdc78 C A 17: 26,005,651 (GRCm39) P21Q probably benign Het
Cluap1 T A 16: 3,733,348 (GRCm39) V199E probably damaging Het
Cntnap3 T C 13: 64,894,552 (GRCm39) E1120G probably damaging Het
Col1a2 T A 6: 4,540,531 (GRCm39) W1330R unknown Het
Coq4 A G 2: 29,685,526 (GRCm39) probably null Het
Cwf19l1 G A 19: 44,109,316 (GRCm39) T346I possibly damaging Het
Cyct T C 2: 76,184,547 (GRCm39) Y68C probably damaging Het
Dnah10 T C 5: 124,870,977 (GRCm39) L2368P probably benign Het
Dnah2 A T 11: 69,328,068 (GRCm39) F3346I probably damaging Het
Dpp3 A T 19: 4,968,295 (GRCm39) V259E probably damaging Het
Dpyd A C 3: 118,858,600 (GRCm39) S605R probably damaging Het
Emc1 A G 4: 139,089,459 (GRCm39) E209G probably damaging Het
Esrra A G 19: 6,897,575 (GRCm39) S61P probably benign Het
Garin2 C A 12: 78,761,849 (GRCm39) P171H probably damaging Het
Gbx2 T A 1: 89,860,844 (GRCm39) probably benign Het
Hepacam A G 9: 37,295,980 (GRCm39) H377R probably damaging Het
Igkv12-46 T C 6: 69,741,534 (GRCm39) Y107C probably damaging Het
Intu A G 3: 40,629,738 (GRCm39) D356G probably damaging Het
Izumo4 A T 10: 80,539,054 (GRCm39) N113Y probably damaging Het
Krt86 G A 15: 101,371,474 (GRCm39) A15T probably benign Het
Lhx8 A T 3: 154,017,316 (GRCm39) S275R probably damaging Het
Lingo3 A T 10: 80,671,364 (GRCm39) S189T probably damaging Het
Lpin1 T C 12: 16,623,715 (GRCm39) Y223C Het
Lrit3 G T 3: 129,582,547 (GRCm39) A359E probably benign Het
Lrp2 T C 2: 69,329,607 (GRCm39) E1720G probably benign Het
Mcub A C 3: 129,710,619 (GRCm39) V271G probably benign Het
Nktr C T 9: 121,577,555 (GRCm39) probably benign Het
Or10g9 A T 9: 39,911,917 (GRCm39) I202N possibly damaging Het
Or13p4 T A 4: 118,547,067 (GRCm39) D194V probably damaging Het
Or1j18 A T 2: 36,624,633 (GRCm39) Q100L probably damaging Het
Or4d5 A T 9: 40,012,540 (GRCm39) L82Q probably damaging Het
Or52z12 T A 7: 103,233,738 (GRCm39) Y170N probably benign Het
Or9i1 G A 19: 13,839,940 (GRCm39) R261H probably damaging Het
Pcdha4 T C 18: 37,087,875 (GRCm39) V686A probably benign Het
Pelo A G 13: 115,226,409 (GRCm39) V16A possibly damaging Het
Plcd1 A G 9: 118,902,900 (GRCm39) S539P probably benign Het
Prss1 A G 6: 41,440,199 (GRCm39) I179V possibly damaging Het
Ptgs2 T C 1: 149,981,306 (GRCm39) Y530H probably damaging Het
Rai1 T C 11: 60,080,685 (GRCm39) V1583A probably damaging Het
Raph1 T G 1: 60,537,632 (GRCm39) D508A probably damaging Het
Rmnd5a A G 6: 71,371,603 (GRCm39) probably benign Het
Rsf1 T C 7: 97,311,328 (GRCm39) L686P probably benign Het
Samd9l T C 6: 3,373,291 (GRCm39) I1323M possibly damaging Het
Scn1a T C 2: 66,103,425 (GRCm39) N1934S probably benign Het
Sec23ip C T 7: 128,352,151 (GRCm39) H176Y probably benign Het
Sh3glb2 A G 2: 30,244,863 (GRCm39) probably null Het
Sis A G 3: 72,821,909 (GRCm39) I1384T possibly damaging Het
Spata31d1a A C 13: 59,850,432 (GRCm39) C565W probably damaging Het
Srbd1 T A 17: 86,435,229 (GRCm39) Q278L probably damaging Het
Sry T C Y: 2,662,625 (GRCm39) H345R unknown Het
Suox A T 10: 128,507,694 (GRCm39) D111E probably damaging Het
Taar7a A T 10: 23,868,726 (GRCm39) F218L probably benign Het
Tfcp2l1 C A 1: 118,592,492 (GRCm39) N288K possibly damaging Het
Tmem128 G T 5: 38,417,765 (GRCm39) R7L possibly damaging Het
Tmem266 A G 9: 55,344,850 (GRCm39) N494S probably damaging Het
Tmprss3 T A 17: 31,412,966 (GRCm39) H80L probably benign Het
Tnrc6c C T 11: 117,640,097 (GRCm39) Q1211* probably null Het
Tns1 T A 1: 73,959,755 (GRCm39) D1671V possibly damaging Het
Trmt1l T A 1: 151,311,455 (GRCm39) probably benign Het
Tshz2 A T 2: 169,726,262 (GRCm39) D286V probably damaging Het
Ttyh2 A G 11: 114,566,485 (GRCm39) E39G probably benign Het
Vmn2r125 G A 4: 156,702,433 (GRCm39) C73Y probably damaging Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Vmn2r61 T C 7: 41,949,911 (GRCm39) F777S probably damaging Het
Vmn2r9 T C 5: 108,995,427 (GRCm39) E407G probably damaging Het
Vwa3a A G 7: 120,379,458 (GRCm39) N521S probably damaging Het
Zan C G 5: 137,390,024 (GRCm39) S4816T unknown Het
Zc3h7b T C 15: 81,656,059 (GRCm39) Y136H possibly damaging Het
Zfp101 T C 17: 33,600,295 (GRCm39) K487R possibly damaging Het
Other mutations in Llgl1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCCAGTAGCAAGGTGAGTTG -3'
(R):5'- AGAAGCTGCTTCTCACACCG -3'

Sequencing Primer
(F):5'- ATGTCCGTGCCCTGACC -3'
(R):5'- GCTTCTCACACCGCCTCC -3'
Posted On 2016-10-26