Mutagenetix > Incidental Mutation

Incidental Mutation 'R1137:Llgl1'

95196

Institutional Source

Beutler Lab

Gene Symbol

Llgl1

Ensembl Gene

ENSMUSG00000020536

Gene Name

LLGL1 scribble cell polarity complex component

Synonyms

Lgl1

MMRRC Submission

039210-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1137 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60590549-60605012 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 60595559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 82 (H82N)

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: H82N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536
AA Change: H82N

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: H82N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536
AA Change: H82N

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,256 (GRCm39)	S54T	probably benign	Het
Ahdc1	A	G	4: 132,789,424 (GRCm39)	T222A	possibly damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Cep250	A	G	2: 155,832,760 (GRCm39)	K1561E	probably benign	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Clca4a	A	G	3: 144,676,446 (GRCm39)	V78A	probably damaging	Het
Clec4n	G	A	6: 123,223,526 (GRCm39)	M170I	possibly damaging	Het
Cp	G	T	3: 20,033,116 (GRCm39)	A648S	probably benign	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dnah8	A	G	17: 31,074,910 (GRCm39)	D4543G	probably damaging	Het
Elp3	A	G	14: 65,785,370 (GRCm39)	V477A	probably damaging	Het
Exoc6b	A	G	6: 84,885,205 (GRCm39)	S245P	probably benign	Het
Fkbp9	G	T	6: 56,837,682 (GRCm39)	G312V	probably damaging	Het
Htr4	A	G	18: 62,570,624 (GRCm39)	I226M	probably damaging	Het
Impa2	G	A	18: 67,451,497 (GRCm39)	V264I	probably benign	Het
Kif20b	T	C	19: 34,914,486 (GRCm39)		probably null	Het
Kmt2c	C	A	5: 25,515,981 (GRCm39)	V2621F	possibly damaging	Het
Lif	A	G	11: 4,219,237 (GRCm39)	D172G	probably damaging	Het
Lrwd1	T	C	5: 136,162,273 (GRCm39)	I162M	probably benign	Het
Mdn1	T	A	4: 32,694,511 (GRCm39)	I1078N	probably damaging	Het
Muc1	A	T	3: 89,137,745 (GRCm39)	T196S	probably benign	Het
Myh7b	T	C	2: 155,464,634 (GRCm39)	L657P	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Ppp1cb	T	C	5: 32,645,015 (GRCm39)	M55T	probably damaging	Het
Ppp1r9a	T	C	6: 5,159,697 (GRCm39)	M1078T	possibly damaging	Het
Rarg	T	C	15: 102,149,595 (GRCm39)	T125A	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Slc5a7	G	A	17: 54,600,039 (GRCm39)	R125C	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tigit	G	T	16: 43,469,485 (GRCm39)	T202N	probably benign	Het
Tmem132b	C	T	5: 125,860,606 (GRCm39)	A617V	possibly damaging	Het
Tpm1	T	C	9: 66,938,400 (GRCm39)		probably null	Het
Ubr3	A	G	2: 69,768,659 (GRCm39)		probably benign	Het
Vcan	T	A	13: 89,852,422 (GRCm39)	D846V	probably damaging	Het
Vmn1r16	T	G	6: 57,300,221 (GRCm39)	N134H	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
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
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'- AGGCCCGTTAACCTCTACTGCAAG -3'
(R):5'- ATCTCCCAGAGATGCAAGCTGCTG -3'

Sequencing Primer
(F):5'- TATATCAGTACCCTACTGGGGGC -3'
(R):5'- AAGCTGCTGTCATCTAGCAGG -3'

Posted On

2014-01-05