Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01400:Llgl1'

79616

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Llgl1

Ensembl Gene

ENSMUSG00000020536

Gene Name

LLGL1 scribble cell polarity complex component

Synonyms

Lgl1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01400

Quality Score

Status

Chromosome

Chromosomal Location

60590549-60605012 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60597316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 255 (H255R)

Ref Sequence

ENSEMBL: ENSMUSP00000104359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052346] [ENSMUST00000108719]

AlphaFold

Q80Y17

Predicted Effect

probably damaging
Transcript: ENSMUST00000052346
AA Change: H255R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536
AA Change: H255R

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 damaging
Transcript: ENSMUST00000108719
AA Change: H255R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536
AA Change: H255R

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	T	5: 99,390,960 (GRCm39)	I133N	probably damaging	Het
Abl2	T	G	1: 156,462,754 (GRCm39)	C510G	probably damaging	Het
Ambp	T	C	4: 63,070,959 (GRCm39)	Y40C	probably damaging	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Arfgef3	G	A	10: 18,528,454 (GRCm39)	A311V	probably damaging	Het
Cass4	A	G	2: 172,269,220 (GRCm39)	D434G	probably damaging	Het
Cep250	A	C	2: 155,840,211 (GRCm39)	T2390P	possibly damaging	Het
Cpm	C	A	10: 117,495,680 (GRCm39)	N56K	probably benign	Het
Cspp1	T	C	1: 10,156,156 (GRCm39)	L455P	probably damaging	Het
Dcx	T	C	X: 142,714,150 (GRCm39)	K51E	possibly damaging	Het
Ehd3	T	C	17: 74,135,089 (GRCm39)	F322L	probably benign	Het
Ell	A	G	8: 71,031,563 (GRCm39)	D87G	probably damaging	Het
Epor	C	T	9: 21,870,735 (GRCm39)		probably null	Het
Exosc10	T	G	4: 148,649,728 (GRCm39)	M386R	probably damaging	Het
Gpr152	T	C	19: 4,193,626 (GRCm39)	I389T	probably benign	Het
Gvin3	T	A	7: 106,201,242 (GRCm39)	E667D	probably benign	Het
Kmo	T	A	1: 175,482,661 (GRCm39)	D328E	possibly damaging	Het
Lrch3	T	A	16: 32,799,911 (GRCm39)	H416Q	probably damaging	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Mdm1	T	G	10: 117,993,156 (GRCm39)	H320Q	probably damaging	Het
Nol4	T	A	18: 22,956,555 (GRCm39)	H209L	probably damaging	Het
Or5p58	A	T	7: 107,694,046 (GRCm39)	C244S	probably damaging	Het
Pcdhac2	T	C	18: 37,279,339 (GRCm39)	V773A	possibly damaging	Het
Pde3a	A	G	6: 141,404,954 (GRCm39)	N393S	probably benign	Het
Pik3r5	A	G	11: 68,385,373 (GRCm39)	K700R	probably benign	Het
Prob1	G	A	18: 35,786,386 (GRCm39)	R623C	possibly damaging	Het
Slc14a2	T	C	18: 78,235,428 (GRCm39)	N112D	probably damaging	Het
Snapc3	C	T	4: 83,368,414 (GRCm39)	P304S	probably damaging	Het
Spin2c	T	A	X: 152,616,621 (GRCm39)	W145R	probably damaging	Het
Tmem131l	T	C	3: 83,829,429 (GRCm39)	E1075G	probably damaging	Het
Trip12	C	T	1: 84,729,699 (GRCm39)	R995Q	probably damaging	Het
Trpm6	T	A	19: 18,803,158 (GRCm39)	L867*	probably null	Het
Vmn1r87	T	G	7: 12,866,230 (GRCm39)	H19P	probably damaging	Het
Vps16	A	G	2: 130,280,273 (GRCm39)	E139G	possibly 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
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
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

Posted On

2013-11-05