Incidental Mutation 'R4348:Llgl1'
ID 328409
Institutional Source Beutler Lab
Gene Symbol Llgl1
Ensembl Gene ENSMUSG00000020536
Gene Name LLGL1 scribble cell polarity complex component
Synonyms Lgl1
MMRRC Submission 041103-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4348 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 60590549-60605012 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 60600394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 581 (P581L)
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 benign
Transcript: ENSMUST00000052346
AA Change: P581L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536
AA Change: P581L

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: P581L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536
AA Change: P581L

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 0.0616 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Aass A G 6: 23,113,738 (GRCm39) F235L probably benign Het
Adamts1 T A 16: 85,599,234 (GRCm39) D122V probably benign Het
Adcy6 A T 15: 98,502,041 (GRCm39) V191E probably benign Het
Cngb3 G A 4: 19,396,688 (GRCm39) R347Q probably damaging Het
Cntnap4 T A 8: 113,480,554 (GRCm39) C334S probably damaging Het
D7Ertd443e ACCTAGGAGGTCCT ACCT 7: 133,950,682 (GRCm39) probably null Het
Dnah12 T A 14: 26,536,498 (GRCm39) M2138K possibly damaging Het
Ebf2 T C 14: 67,476,871 (GRCm39) I138T probably damaging Het
Ect2l A G 10: 18,012,736 (GRCm39) S784P probably damaging Het
Emilin2 T C 17: 71,587,726 (GRCm39) M129V probably benign Het
Enah A T 1: 181,749,985 (GRCm39) S266T possibly damaging Het
Fhip1b A G 7: 105,034,556 (GRCm39) V422A probably damaging Het
Garem2 G A 5: 30,310,366 (GRCm39) R26H possibly damaging Het
Gfy T C 7: 44,827,040 (GRCm39) E352G probably benign Het
Gpatch11 T C 17: 79,148,446 (GRCm39) L128P probably damaging Het
Inava C T 1: 136,153,946 (GRCm39) V180I probably damaging Het
Kcns3 T C 12: 11,141,382 (GRCm39) N439S possibly damaging Het
Mbd1 G T 18: 74,407,487 (GRCm39) R199L probably damaging Het
Mbd5 T A 2: 49,146,339 (GRCm39) M183K probably benign Het
Mecom C A 3: 30,020,887 (GRCm39) V452L possibly damaging Het
Nckap1l A G 15: 103,395,246 (GRCm39) T909A probably damaging Het
Ntrk2 A G 13: 59,026,073 (GRCm39) K464E probably damaging Het
Orc1 C T 4: 108,450,649 (GRCm39) T127I probably damaging Het
Pcdh17 T C 14: 84,685,060 (GRCm39) I509T probably damaging Het
Pcsk7 G A 9: 45,830,646 (GRCm39) A475T probably damaging Het
Prb1b T G 6: 132,290,624 (GRCm39) Y25S unknown Het
Prdm16 A G 4: 154,561,124 (GRCm39) V136A probably benign Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Ptpn13 T A 5: 103,717,592 (GRCm39) S1879R probably damaging Het
Rasgrp3 A T 17: 75,818,975 (GRCm39) Q388L probably benign Het
Rnf31 AAC A 14: 55,838,555 (GRCm39) probably null Het
Rnf38 A T 4: 44,149,100 (GRCm39) N82K possibly damaging Het
Smco3 T A 6: 136,808,692 (GRCm39) T61S possibly damaging Het
Ssx2ip T C 3: 146,138,245 (GRCm39) V364A probably benign Het
Ttn A G 2: 76,595,109 (GRCm39) I20347T possibly damaging Het
Vmn2r120 A T 17: 57,829,466 (GRCm39) F477Y possibly damaging Het
Wee1 A G 7: 109,730,165 (GRCm39) H423R 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
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
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'- AGCTCAGTGAAGGCTTTGGTAC -3'
(R):5'- ACCTCGTGCCACATACCTAG -3'

Sequencing Primer
(F):5'- ACATTGTAGGTATTCAGGGGCC -3'
(R):5'- TACCTAGCCAGCACAGGG -3'
Posted On 2015-07-07