Incidental Mutation 'R5401:Llgl1'
ID 430004
Institutional Source Beutler Lab
Gene Symbol Llgl1
Ensembl Gene ENSMUSG00000020536
Gene Name LLGL1 scribble cell polarity complex component
Synonyms Lgl1
MMRRC Submission 042972-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5401 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 60590549-60605012 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60597297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 249 (S249G)
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: S249G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536
AA Change: S249G

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: S249G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536
AA Change: S249G

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
Meta Mutation Damage Score 0.0690 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (66/68)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J11Rik A G 9: 39,962,338 (GRCm39) noncoding transcript Het
1700025H01Rik G T 16: 30,018,801 (GRCm39) noncoding transcript Het
9330159F19Rik T C 10: 29,101,136 (GRCm39) V503A probably benign Het
Acacb A G 5: 114,347,914 (GRCm39) N995S possibly damaging Het
Anapc4 A G 5: 53,020,991 (GRCm39) K630R probably benign Het
Ankrd13a A C 5: 114,930,234 (GRCm39) Q206H probably damaging Het
Ano10 A T 9: 122,090,356 (GRCm39) L319Q probably damaging Het
Camkk2 T A 5: 122,884,398 (GRCm39) D341V probably damaging Het
Ccdc88a A G 11: 29,413,279 (GRCm39) I606V probably benign Het
Cdv3 G T 9: 103,242,316 (GRCm39) probably benign Het
Cep97 A G 16: 55,745,315 (GRCm39) V155A probably benign Het
Cmya5 T C 13: 93,228,476 (GRCm39) E2204G probably damaging Het
Cracr2b A G 7: 141,046,136 (GRCm39) *395W probably null Het
Defa27 A G 8: 21,805,710 (GRCm39) E50G possibly damaging Het
Dnah7a A G 1: 53,670,812 (GRCm39) I480T probably benign Het
Ep400 C A 5: 110,831,037 (GRCm39) D2210Y unknown Het
Fam170a T A 18: 50,413,618 (GRCm39) S28T probably benign Het
Fancc C A 13: 63,550,767 (GRCm39) K18N probably damaging Het
Flt4 AC ACC 11: 49,541,861 (GRCm39) probably null Het
Fndc8 T G 11: 82,788,676 (GRCm39) S169A possibly damaging Het
Get3 A T 8: 85,745,173 (GRCm39) I298N possibly damaging Het
Herc1 T C 9: 66,409,338 (GRCm39) Y4688H probably damaging Het
Ighv11-2 A T 12: 114,011,959 (GRCm39) D85E possibly damaging Het
Kat14 T C 2: 144,231,180 (GRCm39) F196L possibly damaging Het
Kctd19 C T 8: 106,109,617 (GRCm39) V942I probably benign Het
Map1a T C 2: 121,130,153 (GRCm39) V323A probably damaging Het
Or4m1 C A 14: 50,557,566 (GRCm39) C242F probably damaging Het
Phf21a C A 2: 92,182,097 (GRCm39) T342K possibly damaging Het
Piezo2 T A 18: 63,217,811 (GRCm39) D1122V possibly damaging Het
Pklr A G 3: 89,049,173 (GRCm39) Y173C probably damaging Het
Plcz1 G T 6: 139,938,778 (GRCm39) probably null Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Prom1 A T 5: 44,158,147 (GRCm39) Y845N probably damaging Het
Qng1 C A 13: 58,530,405 (GRCm39) A202S probably benign Het
Ret A T 6: 118,158,936 (GRCm39) S159T probably benign Het
Rfx1 C A 8: 84,793,005 (GRCm39) probably null Het
Scp2 A T 4: 108,001,976 (GRCm39) probably null Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Smad5 T C 13: 56,875,282 (GRCm39) F157L probably benign Het
Smarcc2 C A 10: 128,301,373 (GRCm39) D210E probably damaging Het
Sptlc3 T C 2: 139,478,643 (GRCm39) L534P possibly damaging Het
Srrm1 A G 4: 135,051,380 (GRCm39) probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Sugct T A 13: 17,032,455 (GRCm39) Q432H probably damaging Het
Tex9 A T 9: 72,394,060 (GRCm39) probably null Het
Tsc1 C A 2: 28,576,920 (GRCm39) S1073* probably null Het
Vmn1r72 T C 7: 11,403,843 (GRCm39) S202G probably damaging Het
Vmn2r55 A G 7: 12,385,871 (GRCm39) V703A probably benign Het
Vmn2r67 A T 7: 84,785,765 (GRCm39) Y747N probably damaging Het
Zcchc4 A G 5: 52,964,419 (GRCm39) I292V probably benign Het
Zfp998 T C 13: 66,579,722 (GRCm39) R254G probably benign Het
Zswim2 C T 2: 83,755,589 (GRCm39) G104E 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
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'- TCCAGGGACATCTGCAAGAC -3'
(R):5'- GCTATGTAGTACCCTCAAGGCC -3'

Sequencing Primer
(F):5'- AGATCCTCATAGGCTACAGTCGG -3'
(R):5'- TAGTACCCTCAAGGCCAGCTG -3'
Posted On 2016-09-06