Mutagenetix > Incidental Mutation

Incidental Mutation 'R4349:Llgl1'

328444

Institutional Source

Beutler Lab

Gene Symbol

Llgl1

Ensembl Gene

ENSMUSG00000020536

Gene Name

LLGL1 scribble cell polarity complex component

Synonyms

Lgl1

MMRRC Submission

041104-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4349 (G1)

Quality Score

225

Status

Validated

Chromosome

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

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: P581L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536
AA Change: P581L

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: P581L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536
AA Change: P581L

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: ENSMUST00000128749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154141

Meta Mutation Damage Score

0.0616

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (36/37)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	G	T	1: 155,562,827 (GRCm39)	R276L	probably benign	Het
Bahcc1	G	A	11: 120,150,027 (GRCm39)	R103Q	probably damaging	Het
Cd101	G	A	3: 100,920,630 (GRCm39)	T423M	possibly damaging	Het
Cdh20	A	G	1: 104,906,814 (GRCm39)	D547G	probably damaging	Het
Cntn3	T	C	6: 102,176,312 (GRCm39)	E801G	probably damaging	Het
Dzip1	T	C	14: 119,120,938 (GRCm39)	D673G	probably benign	Het
Enam	T	C	5: 88,651,407 (GRCm39)	L972P	probably damaging	Het
Espl1	C	A	15: 102,228,039 (GRCm39)	T1630N	probably benign	Het
Fra10ac1	A	G	19: 38,188,053 (GRCm39)	S248P	probably benign	Het
Grik1	T	C	16: 87,754,431 (GRCm39)	R385G	probably damaging	Het
Gtpbp8	T	A	16: 44,566,560 (GRCm39)		probably null	Het
Kif23	C	T	9: 61,839,396 (GRCm39)	V284M	probably damaging	Het
Klhdc7a	A	G	4: 139,693,588 (GRCm39)	V453A	possibly damaging	Het
Klhl35	G	A	7: 99,122,926 (GRCm39)	V517M	probably benign	Het
Marchf7	T	C	2: 60,064,539 (GRCm39)	S272P	probably benign	Het
Milr1	T	C	11: 106,654,708 (GRCm39)	S84P	possibly damaging	Het
Nrp2	A	G	1: 62,777,576 (GRCm39)	D127G	probably damaging	Het
Or12j5	A	T	7: 140,084,270 (GRCm39)	L34*	probably null	Het
Otog	A	T	7: 45,923,613 (GRCm39)	Q1082L	probably damaging	Het
Pacsin1	G	A	17: 27,925,978 (GRCm39)	V107I	possibly damaging	Het
Pcnx2	T	C	8: 126,489,590 (GRCm39)	H1668R	probably damaging	Het
Pigv	T	C	4: 133,392,127 (GRCm39)	T348A	probably benign	Het
Ptch1	C	T	13: 63,682,143 (GRCm39)	R537H	probably damaging	Het
Rbm25	A	G	12: 83,721,947 (GRCm39)	D711G	probably damaging	Het
Rnf31	AAC	A	14: 55,838,555 (GRCm39)		probably null	Het
Sec24a	G	T	11: 51,605,976 (GRCm39)	Q692K	probably benign	Het
Sidt2	C	T	9: 45,857,011 (GRCm39)	D205N	possibly damaging	Het
Skint10	T	C	4: 112,626,968 (GRCm39)	*113W	probably null	Het
Tet3	T	C	6: 83,380,257 (GRCm39)	E637G	probably benign	Het
Vmn2r94	T	A	17: 18,464,605 (GRCm39)	I562F	probably benign	Het
Zfp593	T	C	4: 133,972,367 (GRCm39)	T78A	probably benign	Het
Zfp605	T	A	5: 110,276,552 (GRCm39)	C557S	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
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'- AGCTCAGTGAAGGCTTTGG -3'
(R):5'- ACCTCGTGCCACATACCTAG -3'

Sequencing Primer
(F):5'- ACATTGTAGGTATTCAGGGGCC -3'
(R):5'- TACCTAGCCAGCACAGGG -3'

Posted On

2015-07-07