Incidental Mutation 'R4584:Llgl1'
ID 343938
Institutional Source Beutler Lab
Gene Symbol Llgl1
Ensembl Gene ENSMUSG00000020536
Gene Name LLGL1 scribble cell polarity complex component
Synonyms Lgl1
MMRRC Submission 041805-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4584 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 60590549-60605012 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 60602908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 861 (L861Q)
Ref Sequence ENSEMBL: ENSMUSP00000104359 (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 damaging
Transcript: ENSMUST00000052346
AA Change: L861Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536
AA Change: L861Q

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 damaging
Transcript: ENSMUST00000108719
AA Change: L861Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536
AA Change: L861Q

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: ENSMUST00000154141
Meta Mutation Damage Score 0.8055 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (86/89)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A G 8: 120,886,756 (GRCm39) N343D probably damaging Het
9530002B09Rik T A 4: 122,594,979 (GRCm39) D78E possibly damaging Het
A2m C A 6: 121,634,365 (GRCm39) D632E probably benign Het
Alpk2 A G 18: 65,440,035 (GRCm39) S453P probably damaging Het
Birc2 A T 9: 7,833,675 (GRCm39) F269I probably damaging Het
Ccdc66 G A 14: 27,222,468 (GRCm39) P92S probably benign Het
Cdc34 T A 10: 79,523,869 (GRCm39) D108E possibly damaging Het
Cdk5rap2 A C 4: 70,184,997 (GRCm39) V1151G probably damaging Het
Cemip T C 7: 83,607,747 (GRCm39) K753R probably damaging Het
Cep295 A T 9: 15,246,095 (GRCm39) L787Q possibly damaging Het
Cideb T C 14: 55,995,727 (GRCm39) N8S probably benign Het
Dagla A G 19: 10,248,373 (GRCm39) Y96H probably damaging Het
Dapl1 C A 2: 59,335,086 (GRCm39) T80K possibly damaging Het
Ddx6 T C 9: 44,535,784 (GRCm39) V171A probably damaging Het
Dnah12 C A 14: 26,494,551 (GRCm39) T34K probably damaging Het
Dnhd1 T C 7: 105,327,256 (GRCm39) L735P probably damaging Het
Ep400 T A 5: 110,881,763 (GRCm39) probably benign Het
Erlin1 G T 19: 44,057,758 (GRCm39) Y22* probably null Het
Gmcl1 A G 6: 86,699,605 (GRCm39) S141P probably damaging Het
Gtf2a1 C T 12: 91,529,700 (GRCm39) V338I possibly damaging Het
H2-T15 A T 17: 36,368,559 (GRCm39) M123K probably damaging Het
Ighv1-66 T A 12: 115,557,016 (GRCm39) Q22L possibly damaging Het
Igkv4-80 T C 6: 68,993,720 (GRCm39) Y57C probably damaging Het
Itpk1 G A 12: 102,536,416 (GRCm39) A410V possibly damaging Het
Itsn1 T A 16: 91,617,471 (GRCm39) probably benign Het
Kcnk3 G T 5: 30,745,730 (GRCm39) A24S probably damaging Het
Kif20a A G 18: 34,765,664 (GRCm39) Y887C probably damaging Het
Klf13 T C 7: 63,587,718 (GRCm39) T193A possibly damaging Het
Klhl9 G T 4: 88,640,144 (GRCm39) H32Q probably damaging Het
Kndc1 C G 7: 139,481,159 (GRCm39) P82A probably damaging Het
Lpcat2 A G 8: 93,615,999 (GRCm39) E305G probably damaging Het
Mib2 C A 4: 155,741,744 (GRCm39) A293S probably damaging Het
Mtfr1 A G 3: 19,269,766 (GRCm39) E138G probably damaging Het
Myoz1 A G 14: 20,700,663 (GRCm39) W185R probably damaging Het
Ninj1 T A 13: 49,347,442 (GRCm39) probably null Het
Nlgn2 A T 11: 69,725,104 (GRCm39) V54E possibly damaging Het
Nlrc5 A C 8: 95,203,903 (GRCm39) I668L probably damaging Het
Npy6r T A 18: 44,409,262 (GRCm39) C228S probably damaging Het
Nufip2 T C 11: 77,632,554 (GRCm39) V690A unknown Het
Nup107 T C 10: 117,602,273 (GRCm39) I513M probably benign Het
Oit3 T C 10: 59,261,284 (GRCm39) D461G probably damaging Het
Or2ab1 T A 11: 58,488,830 (GRCm39) F205I probably benign Het
Paxbp1 T C 16: 90,831,011 (GRCm39) D455G probably damaging Het
Pcdh7 A T 5: 57,878,625 (GRCm39) T727S probably damaging Het
Pex14 G A 4: 149,055,053 (GRCm39) A113V probably damaging Het
Phc3 A G 3: 31,020,031 (GRCm39) V23A possibly damaging Het
Plec T C 15: 76,115,406 (GRCm39) D56G possibly damaging Het
Plekha7 C A 7: 115,836,768 (GRCm39) probably benign Het
Prdm16 T C 4: 154,422,140 (GRCm39) E885G probably damaging Het
Prss1l T C 6: 41,373,701 (GRCm39) L188P probably benign Het
Psd2 A G 18: 36,145,881 (GRCm39) T762A probably benign Het
Psme4 T A 11: 30,784,318 (GRCm39) H964Q probably damaging Het
Rbak C T 5: 143,161,878 (GRCm39) V51I probably benign Het
Rbfa A G 18: 80,243,721 (GRCm39) L15P probably benign Het
Ren1 T C 1: 133,282,546 (GRCm39) Y84H probably damaging Het
Rps6ka5 A T 12: 100,547,577 (GRCm39) I311N probably damaging Het
Samd14 T A 11: 94,912,361 (GRCm39) probably null Het
Scaf4 T C 16: 90,026,403 (GRCm39) probably benign Het
Serpina12 A T 12: 104,004,611 (GRCm39) L7Q unknown Het
Serpinb9d A T 13: 33,384,599 (GRCm39) E192V probably damaging Het
Slc22a29 A T 19: 8,146,655 (GRCm39) F382L probably benign Het
Snta1 T A 2: 154,220,035 (GRCm39) D375V probably benign Het
Stat5b T A 11: 100,678,064 (GRCm39) Y683F probably damaging Het
Strip1 A T 3: 107,531,819 (GRCm39) Y257N probably benign Het
Sugp2 A G 8: 70,704,548 (GRCm39) H695R probably benign Het
Svep1 T A 4: 58,068,526 (GRCm39) R3087* probably null Het
Syngr2 T C 11: 117,703,947 (GRCm39) V138A probably damaging Het
Thra T C 11: 98,655,310 (GRCm39) F397L probably benign Het
Tmem45b T A 9: 31,339,951 (GRCm39) I149F probably damaging Het
Tmprss11f C T 5: 86,687,553 (GRCm39) probably null Het
Ush2a C T 1: 188,183,995 (GRCm39) T1433I probably benign Het
Vmn2r109 A T 17: 20,774,820 (GRCm39) Y178* probably null Het
Vmn2r84 T G 10: 130,226,582 (GRCm39) M419L probably benign Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Zfp268 T A 4: 145,343,747 (GRCm39) probably null Het
Zfp276 A G 8: 123,995,145 (GRCm39) probably benign Het
Zfp568 T G 7: 29,697,617 (GRCm39) F100V probably benign Het
Zfp667 T A 7: 6,293,624 (GRCm39) D41E 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
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'- TATGCACAGTTGGATTGAGGC -3'
(R):5'- TGTGTAACCCACCACTCATC -3'

Sequencing Primer
(F):5'- ATTGAGGCCTGCAGAGCCAG -3'
(R):5'- CTGGCCGTGACGTGTGAAG -3'
Posted On 2015-09-24