Incidental Mutation 'R4594:Llgl1'
ID 344269
Institutional Source Beutler Lab
Gene Symbol Llgl1
Ensembl Gene ENSMUSG00000020536
Gene Name LLGL1 scribble cell polarity complex component
Synonyms Lgl1
MMRRC Submission 041810-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4594 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 60699723-60714186 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 60706321 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 226 (T226I)
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: T226I

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536
AA Change: T226I

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: T226I

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536
AA Change: T226I

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (66/66)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,575,754 (GRCm38) T64A probably damaging Het
4933427I04Rik A T 4: 123,860,538 (GRCm38) T82S possibly damaging Het
Adamts15 A T 9: 30,921,447 (GRCm38) I264N probably damaging Het
Alpk1 G A 3: 127,683,554 (GRCm38) A285V probably damaging Het
Auh T C 13: 52,912,966 (GRCm38) probably benign Het
BC030499 T A 11: 78,291,647 (GRCm38) V94D possibly damaging Het
Cacna2d3 A G 14: 28,982,346 (GRCm38) F826S probably benign Het
Ccdc54 G T 16: 50,590,017 (GRCm38) Y295* probably null Het
Ctnna3 G A 10: 64,586,079 (GRCm38) V551I probably benign Het
Diaph3 C T 14: 86,986,037 (GRCm38) C347Y probably damaging Het
Dnajb5 A G 4: 42,950,842 (GRCm38) probably benign Het
Dscam A T 16: 96,717,996 (GRCm38) I847K possibly damaging Het
Fam8a1 T C 13: 46,671,266 (GRCm38) F243S probably damaging Het
Fat2 T C 11: 55,284,752 (GRCm38) I1712V possibly damaging Het
Fgfr1 T C 8: 25,573,836 (GRCm38) V793A probably damaging Het
Got2 T C 8: 95,872,186 (GRCm38) E196G probably benign Het
Gsk3b G A 16: 38,170,701 (GRCm38) C107Y possibly damaging Het
H2-M5 T C 17: 36,987,805 (GRCm38) T250A possibly damaging Het
Il17f T A 1: 20,777,802 (GRCm38) T151S probably damaging Het
Ints12 A G 3: 133,108,868 (GRCm38) N279D probably benign Het
Kcnd3 C T 3: 105,658,766 (GRCm38) A421V probably damaging Het
Kynu T A 2: 43,679,890 (GRCm38) S395T probably benign Het
Mael T A 1: 166,235,487 (GRCm38) Q132L probably damaging Het
Mcpt1 A T 14: 56,018,652 (GRCm38) R49S probably benign Het
Meioc G T 11: 102,674,166 (GRCm38) G203C probably damaging Het
Mfsd4b1 A G 10: 40,007,317 (GRCm38) S46P probably benign Het
Muc6 G T 7: 141,638,772 (GRCm38) T1996N possibly damaging Het
Mx2 C A 16: 97,547,432 (GRCm38) Y268* probably null Het
Myom1 A G 17: 71,100,074 (GRCm38) D1064G possibly damaging Het
Nek11 A G 9: 105,392,847 (GRCm38) probably null Het
Nfe2 A G 15: 103,248,805 (GRCm38) L253S probably damaging Het
Nup205 T C 6: 35,196,489 (GRCm38) I478T probably benign Het
Nxpe2 T C 9: 48,319,482 (GRCm38) D529G probably damaging Het
Oard1 T C 17: 48,415,239 (GRCm38) S88P possibly damaging Het
Olfr1370 C T 13: 21,072,522 (GRCm38) V260I probably benign Het
Olfr231 G T 1: 174,117,320 (GRCm38) T232N probably damaging Het
Olfr639 T C 7: 104,012,417 (GRCm38) D95G probably benign Het
Olfr678 T C 7: 105,069,590 (GRCm38) V41A probably benign Het
Olfr732 G A 14: 50,281,683 (GRCm38) T190I probably benign Het
Olfr741 A G 14: 50,486,162 (GRCm38) R235G probably benign Het
Olfr906 A C 9: 38,488,761 (GRCm38) H244P probably damaging Het
Osgin1 C T 8: 119,445,253 (GRCm38) T262I possibly damaging Het
Plcb4 A T 2: 136,002,599 (GRCm38) M146L probably damaging Het
Prkdc A T 16: 15,767,966 (GRCm38) E2456V possibly damaging Het
Ptk2 G A 15: 73,206,196 (GRCm38) A1004V probably damaging Het
Rab15 G A 12: 76,800,671 (GRCm38) probably benign Het
Rad51ap2 T C 12: 11,457,880 (GRCm38) V601A probably benign Het
Rasef T A 4: 73,780,389 (GRCm38) I12F possibly damaging Het
Rdh14 T A 12: 10,394,567 (GRCm38) N139K probably damaging Het
Rexo2 A T 9: 48,480,417 (GRCm38) V46E probably damaging Het
Slmap A T 14: 26,465,617 (GRCm38) L68H probably damaging Het
Speer3 C G 5: 13,796,380 (GRCm38) A238G possibly damaging Het
Tmem132e T C 11: 82,435,068 (GRCm38) I206T possibly damaging Het
Trappc8 A T 18: 20,836,948 (GRCm38) V995E probably benign Het
Vmn2r12 A C 5: 109,086,435 (GRCm38) I637S probably damaging Het
Vmn2r124 T C 17: 18,073,969 (GRCm38) F773L probably damaging Het
Vmn2r99 A T 17: 19,393,662 (GRCm38) D548V probably damaging Het
Wdr81 T C 11: 75,445,794 (GRCm38) N1590D probably benign Het
Zbtb6 A T 2: 37,429,042 (GRCm38) N291K possibly damaging Het
Zfp119a G A 17: 55,866,325 (GRCm38) R173C probably benign Het
Zmynd15 T C 11: 70,464,182 (GRCm38) L335P probably damaging Het
Other mutations in Llgl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Llgl1 APN 11 60,709,999 (GRCm38) missense probably benign 0.38
IGL01400:Llgl1 APN 11 60,706,490 (GRCm38) missense probably damaging 1.00
IGL03066:Llgl1 APN 11 60,706,034 (GRCm38) missense possibly damaging 0.75
IGL03174:Llgl1 APN 11 60,706,210 (GRCm38) missense probably benign 0.15
IGL03306:Llgl1 APN 11 60,711,354 (GRCm38) missense possibly damaging 0.92
R0284:Llgl1 UTSW 11 60,712,141 (GRCm38) missense probably damaging 0.98
R1137:Llgl1 UTSW 11 60,704,733 (GRCm38) missense probably benign 0.01
R1432:Llgl1 UTSW 11 60,708,554 (GRCm38) missense probably damaging 1.00
R1769:Llgl1 UTSW 11 60,707,047 (GRCm38) missense probably damaging 1.00
R1786:Llgl1 UTSW 11 60,707,240 (GRCm38) missense probably benign 0.19
R1835:Llgl1 UTSW 11 60,704,730 (GRCm38) missense probably benign 0.00
R1943:Llgl1 UTSW 11 60,706,016 (GRCm38) missense probably benign
R2197:Llgl1 UTSW 11 60,710,039 (GRCm38) missense possibly damaging 0.62
R2510:Llgl1 UTSW 11 60,710,036 (GRCm38) missense probably damaging 1.00
R2568:Llgl1 UTSW 11 60,708,812 (GRCm38) missense probably damaging 1.00
R3690:Llgl1 UTSW 11 60,707,002 (GRCm38) missense probably damaging 1.00
R3853:Llgl1 UTSW 11 60,707,249 (GRCm38) missense probably damaging 1.00
R4079:Llgl1 UTSW 11 60,710,284 (GRCm38) splice site probably null
R4259:Llgl1 UTSW 11 60,709,568 (GRCm38) missense probably benign
R4348:Llgl1 UTSW 11 60,709,568 (GRCm38) missense probably benign
R4349:Llgl1 UTSW 11 60,709,568 (GRCm38) missense probably benign
R4352:Llgl1 UTSW 11 60,709,568 (GRCm38) missense probably benign
R4353:Llgl1 UTSW 11 60,709,568 (GRCm38) missense probably benign
R4396:Llgl1 UTSW 11 60,706,008 (GRCm38) missense probably benign
R4584:Llgl1 UTSW 11 60,712,082 (GRCm38) missense probably damaging 0.99
R4628:Llgl1 UTSW 11 60,709,985 (GRCm38) missense probably damaging 1.00
R4651:Llgl1 UTSW 11 60,708,651 (GRCm38) missense possibly damaging 0.80
R4653:Llgl1 UTSW 11 60,708,651 (GRCm38) missense possibly damaging 0.80
R4731:Llgl1 UTSW 11 60,706,225 (GRCm38) nonsense probably null
R4869:Llgl1 UTSW 11 60,707,210 (GRCm38) nonsense probably null
R4898:Llgl1 UTSW 11 60,709,568 (GRCm38) missense probably benign
R4899:Llgl1 UTSW 11 60,709,568 (GRCm38) missense probably benign
R4939:Llgl1 UTSW 11 60,709,979 (GRCm38) critical splice acceptor site probably null
R4941:Llgl1 UTSW 11 60,709,568 (GRCm38) missense probably benign
R4942:Llgl1 UTSW 11 60,709,568 (GRCm38) missense probably benign
R4958:Llgl1 UTSW 11 60,711,435 (GRCm38) missense probably benign 0.02
R4995:Llgl1 UTSW 11 60,709,724 (GRCm38) missense probably benign 0.00
R4997:Llgl1 UTSW 11 60,709,568 (GRCm38) missense probably benign
R5177:Llgl1 UTSW 11 60,712,007 (GRCm38) missense possibly damaging 0.94
R5257:Llgl1 UTSW 11 60,711,563 (GRCm38) splice site probably null
R5258:Llgl1 UTSW 11 60,711,563 (GRCm38) splice site probably null
R5401:Llgl1 UTSW 11 60,706,471 (GRCm38) missense probably benign
R5406:Llgl1 UTSW 11 60,713,184 (GRCm38) missense probably damaging 0.99
R5432:Llgl1 UTSW 11 60,707,623 (GRCm38) missense probably benign
R5587:Llgl1 UTSW 11 60,710,342 (GRCm38) missense probably benign 0.00
R5732:Llgl1 UTSW 11 60,709,460 (GRCm38) missense probably benign 0.00
R5758:Llgl1 UTSW 11 60,708,567 (GRCm38) missense probably damaging 1.00
R5879:Llgl1 UTSW 11 60,712,980 (GRCm38) missense probably benign 0.00
R6268:Llgl1 UTSW 11 60,712,163 (GRCm38) missense probably benign 0.13
R6286:Llgl1 UTSW 11 60,709,532 (GRCm38) missense probably damaging 1.00
R6455:Llgl1 UTSW 11 60,709,660 (GRCm38) missense probably damaging 0.98
R6805:Llgl1 UTSW 11 60,702,865 (GRCm38) missense probably benign 0.25
R6929:Llgl1 UTSW 11 60,710,353 (GRCm38) nonsense probably null
R7274:Llgl1 UTSW 11 60,705,986 (GRCm38) missense possibly damaging 0.89
R7889:Llgl1 UTSW 11 60,707,312 (GRCm38) missense probably damaging 1.00
R7986:Llgl1 UTSW 11 60,711,395 (GRCm38) missense probably benign 0.16
R8141:Llgl1 UTSW 11 60,710,316 (GRCm38) missense probably benign 0.02
R8176:Llgl1 UTSW 11 60,706,561 (GRCm38) missense probably benign 0.27
R8223:Llgl1 UTSW 11 60,702,822 (GRCm38) missense possibly damaging 0.86
R8332:Llgl1 UTSW 11 60,710,384 (GRCm38) missense possibly damaging 0.90
R8350:Llgl1 UTSW 11 60,712,121 (GRCm38) missense probably damaging 1.00
R8500:Llgl1 UTSW 11 60,704,983 (GRCm38) critical splice donor site probably null
R8979:Llgl1 UTSW 11 60,710,303 (GRCm38) missense probably benign 0.25
R9155:Llgl1 UTSW 11 60,707,108 (GRCm38) missense probably benign 0.00
R9163:Llgl1 UTSW 11 60,709,576 (GRCm38) missense probably benign 0.02
R9225:Llgl1 UTSW 11 60,710,063 (GRCm38) missense probably damaging 1.00
R9234:Llgl1 UTSW 11 60,710,130 (GRCm38) critical splice donor site probably null
Z1186:Llgl1 UTSW 11 60,713,097 (GRCm38) frame shift probably null
Z1187:Llgl1 UTSW 11 60,713,097 (GRCm38) frame shift probably null
Z1188:Llgl1 UTSW 11 60,713,097 (GRCm38) frame shift probably null
Z1189:Llgl1 UTSW 11 60,713,097 (GRCm38) frame shift probably null
Z1190:Llgl1 UTSW 11 60,713,097 (GRCm38) frame shift probably null
Z1191:Llgl1 UTSW 11 60,713,097 (GRCm38) frame shift probably null
Z1192:Llgl1 UTSW 11 60,713,097 (GRCm38) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TCTCAGCCCAGATGTGGTTC -3'
(R):5'- CACTGTGTGAGCTGATAATGCTG -3'

Sequencing Primer
(F):5'- GAGGACCCTCCCATTTCTGG -3'
(R):5'- GAGCTGATAATGCTGCTGCCATC -3'
Posted On 2015-09-25