Incidental Mutation 'R9163:Llgl1'
ID 695863
Institutional Source Beutler Lab
Gene Symbol Llgl1
Ensembl Gene ENSMUSG00000020536
Gene Name LLGL1 scribble cell polarity complex component
Synonyms Lgl1
MMRRC Submission 068975-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9163 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 60590549-60605012 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 60600402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 584 (A584S)
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: A584S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536
AA Change: A584S

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: A584S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536
AA Change: A584S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (69/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,393,400 (GRCm39) S351P possibly damaging Het
4930558K02Rik A G 1: 161,777,174 (GRCm39) S128P probably benign Het
Adam17 C T 12: 21,401,588 (GRCm39) V136I probably benign Het
Adam19 A G 11: 46,018,176 (GRCm39) T413A probably benign Het
Adam28 T C 14: 68,866,531 (GRCm39) K443E probably damaging Het
Adgrv1 T A 13: 81,567,541 (GRCm39) T5211S probably benign Het
Adnp2 A T 18: 80,172,200 (GRCm39) N736K possibly damaging Het
Agtpbp1 C T 13: 59,609,884 (GRCm39) W1082* probably null Het
Ap3b2 T G 7: 81,113,546 (GRCm39) M888L unknown Het
Arhgap35 C A 7: 16,295,549 (GRCm39) R1172L possibly damaging Het
Arrdc3 T A 13: 81,041,506 (GRCm39) D402E probably benign Het
Ccdc14 T C 16: 34,511,118 (GRCm39) F31L possibly damaging Het
Cd5l T G 3: 87,274,932 (GRCm39) L157R probably benign Het
Cdc14a G T 3: 116,122,213 (GRCm39) D251E possibly damaging Het
Cfap210 A T 2: 69,606,510 (GRCm39) I302K probably benign Het
Chmp2a T A 7: 12,766,645 (GRCm39) Q91L possibly damaging Het
Col12a1 A G 9: 79,548,729 (GRCm39) probably null Het
Ctdsp1 G T 1: 74,434,126 (GRCm39) R201L possibly damaging Het
Dhx15 C T 5: 52,342,198 (GRCm39) R40H probably damaging Het
Dnph1 A G 17: 46,809,860 (GRCm39) Y134C probably damaging Het
Foxo1 T A 3: 52,253,301 (GRCm39) V488D probably benign Het
Gcn1 C A 5: 115,742,944 (GRCm39) N1538K probably benign Het
Gldc T A 19: 30,111,686 (GRCm39) E500V probably benign Het
Hhip G A 8: 80,701,743 (GRCm39) T597I probably benign Het
Hmgn1 A G 16: 95,928,509 (GRCm39) probably null Het
Ifi205 A T 1: 173,844,988 (GRCm39) S265T possibly damaging Het
Igkv1-131 T C 6: 67,743,753 (GRCm39) M2V probably benign Het
Irgm2 T G 11: 58,111,280 (GRCm39) S324A probably damaging Het
Jarid2 C G 13: 45,064,727 (GRCm39) D937E possibly damaging Het
Jrkl A T 9: 13,245,404 (GRCm39) W86R probably damaging Het
Kbtbd3 A G 9: 4,330,584 (GRCm39) I319M probably benign Het
Klhl7 T C 5: 24,364,465 (GRCm39) Y500H probably damaging Het
Lats1 C T 10: 7,578,052 (GRCm39) A392V probably benign Het
Macf1 G T 4: 123,403,686 (GRCm39) S560Y probably damaging Het
Or4c11 C T 2: 88,695,795 (GRCm39) P282L possibly damaging Het
Or8c10 T A 9: 38,279,378 (GRCm39) C169S probably damaging Het
Pde10a G A 17: 9,181,791 (GRCm39) C498Y possibly damaging Het
Pde4dip A G 3: 97,659,123 (GRCm39) probably null Het
Pdhx G A 2: 102,852,561 (GRCm39) P434L probably damaging Het
Pdlim3 T C 8: 46,338,711 (GRCm39) probably null Het
Pik3c3 T C 18: 30,427,483 (GRCm39) probably null Het
Prkag1 T C 15: 98,711,900 (GRCm39) K242R possibly damaging Het
Rap1b A G 10: 117,654,391 (GRCm39) S150P possibly damaging Het
Scn4a A G 11: 106,217,076 (GRCm39) S1102P probably damaging Het
Scrib A G 15: 75,921,108 (GRCm39) Y1332H probably damaging Het
Sim1 A G 10: 50,772,165 (GRCm39) E58G probably benign Het
Slc13a1 C T 6: 24,097,578 (GRCm39) probably null Het
Slc17a8 A G 10: 89,425,444 (GRCm39) V380A probably damaging Het
Slc5a4b G T 10: 75,917,165 (GRCm39) Y290* probably null Het
Slco4c1 A G 1: 96,764,633 (GRCm39) F480L probably damaging Het
Srcap T C 7: 127,121,162 (GRCm39) V146A unknown Het
Ssc5d T A 7: 4,936,432 (GRCm39) D559E probably damaging Het
Sstr5 A C 17: 25,710,584 (GRCm39) I215S probably damaging Het
Stambpl1 G A 19: 34,212,634 (GRCm39) C268Y probably benign Het
Stard3nl C A 13: 19,560,809 (GRCm39) probably benign Het
Sycp3 T C 10: 88,299,734 (GRCm39) probably null Het
Syne2 A T 12: 76,009,349 (GRCm39) M2417L possibly damaging Het
Tenm4 T G 7: 96,473,080 (GRCm39) Y959D probably damaging Het
Tmem132d T A 5: 127,869,570 (GRCm39) D588V possibly damaging Het
Tnfrsf26 T C 7: 143,172,130 (GRCm39) E60G possibly damaging Het
Topbp1 A G 9: 103,205,767 (GRCm39) R802G probably benign Het
Trmu T C 15: 85,781,096 (GRCm39) V360A probably benign Het
Tshz2 G A 2: 169,726,562 (GRCm39) C386Y probably damaging Het
Ttn A T 2: 76,700,771 (GRCm39) D61E Het
Upf1 T C 8: 70,792,674 (GRCm39) T345A probably benign Het
Vmn2r23 T A 6: 123,718,782 (GRCm39) C712S probably damaging Het
Vmn2r44 C T 7: 8,371,091 (GRCm39) V652I probably benign Het
Wfdc1 T C 8: 120,393,302 (GRCm39) V8A probably benign Het
Xrn1 A G 9: 95,880,274 (GRCm39) Y738C probably benign Het
Zfp618 T G 4: 63,051,511 (GRCm39) V764G probably damaging Het
Znfx1 A T 2: 166,898,261 (GRCm39) M221K probably 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
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
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'- AGCTCAGTGAAGGCTTTGGTAC -3'
(R):5'- ACCTCGTGCCACATACCTAG -3'

Sequencing Primer
(F):5'- ACATTGTAGGTATTCAGGGGCC -3'
(R):5'- TACCTAGCCAGCACAGGG -3'
Posted On 2022-02-07