Mutagenetix > Incidental Mutation

Incidental Mutation 'R4958:Llgl1'

381715

Institutional Source

Beutler Lab

Gene Symbol

Llgl1

Ensembl Gene

ENSMUSG00000020536

Gene Name

LLGL1 scribble cell polarity complex component

Synonyms

Lgl1

MMRRC Submission

042555-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4958 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60590549-60605012 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 60602261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 768 (R768L)

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

Domain	Start	End	E-Value	Type
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: R768L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536
AA Change: R768L

Domain	Start	End	E-Value	Type
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: R768L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536
AA Change: R768L

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd7	A	G	6: 18,866,722 (GRCm39)	S81G	probably benign	Het
Arel1	T	C	12: 84,973,078 (GRCm39)	K573R	possibly damaging	Het
Atf7ip	C	T	6: 136,583,808 (GRCm39)	R1280C	probably damaging	Het
Atp1a4	T	A	1: 172,058,718 (GRCm39)	D909V	probably damaging	Het
Cdh2	T	G	18: 16,760,622 (GRCm39)		probably null	Het
Col6a1	A	T	10: 76,559,339 (GRCm39)	I99N	probably damaging	Het
Dennd4c	A	G	4: 86,699,916 (GRCm39)	T256A	probably damaging	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ereg	T	C	5: 91,237,970 (GRCm39)	V152A	probably damaging	Het
Gm4950	T	C	18: 51,998,641 (GRCm39)	T105A	probably benign	Het
Hsf2	T	C	10: 57,377,467 (GRCm39)	I121T	probably damaging	Het
Kmt2a	A	T	9: 44,759,764 (GRCm39)	L728Q	probably damaging	Het
Lyst	A	G	13: 13,810,048 (GRCm39)	I573V	probably benign	Het
Macf1	G	T	4: 123,369,157 (GRCm39)	T303K	probably damaging	Het
Map3k5	A	T	10: 19,899,535 (GRCm39)	Q264L	possibly damaging	Het
Mboat1	T	C	13: 30,408,376 (GRCm39)	S180P	probably damaging	Het
Mfsd6	T	C	1: 52,700,183 (GRCm39)	D655G	probably damaging	Het
Myh2	A	G	11: 67,083,785 (GRCm39)	E1521G	possibly damaging	Het
Nsd2	T	A	5: 34,049,366 (GRCm39)	S1200R	probably damaging	Het
Or51k2	T	C	7: 103,595,808 (GRCm39)	F12L	probably damaging	Het
Or52n2b	T	C	7: 104,565,668 (GRCm39)	I278M	probably damaging	Het
Or6z3	G	A	7: 6,464,057 (GRCm39)	C183Y	probably damaging	Het
Or8h9	T	C	2: 86,789,449 (GRCm39)	M118V	possibly damaging	Het
Pbrm1	T	C	14: 30,796,784 (GRCm39)	I875T	probably damaging	Het
Pla2g1b	T	A	5: 115,608,885 (GRCm39)	F26I	probably damaging	Het
Plscr4	A	G	9: 92,366,814 (GRCm39)	N143D	possibly damaging	Het
Rab11fip1	G	T	8: 27,644,841 (GRCm39)	R315S	probably damaging	Het
Rptor	G	A	11: 119,748,217 (GRCm39)	R727Q	probably benign	Het
Serac1	A	T	17: 6,119,657 (GRCm39)	V91D	probably benign	Het
Slco1a6	C	A	6: 142,091,431 (GRCm39)	G90C	probably damaging	Het
Sulf1	A	G	1: 12,867,134 (GRCm39)	Y106C	probably benign	Het
Syt13	G	A	2: 92,783,794 (GRCm39)	V355M	probably damaging	Het
Tjp1	G	A	7: 64,985,850 (GRCm39)	R314*	probably null	Het
Tshr	A	G	12: 91,504,961 (GRCm39)	D633G	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Znrf4	A	G	17: 56,818,701 (GRCm39)	F202S	probably damaging	Het
Zswim8	T	A	14: 20,763,533 (GRCm39)	W427R	probably damaging	Het

Other mutations in Llgl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GCCAGTTAGGAAATGATGGTTACAG -3'
(R):5'- AGGCAGCTCACCTTGAATTG -3'

Sequencing Primer
(F):5'- TTAGGAAATGATGGTTACAGTGAGG -3'
(R):5'- TGTTCCTCAGATGCAATGAGC -3'

Posted On

2016-04-27