Mutagenetix > Incidental Mutation

Incidental Mutation 'R4898:Llgl1'

375941

Institutional Source

Beutler Lab

Gene Symbol

Llgl1

Ensembl Gene

ENSMUSG00000020536

Gene Name

LLGL1 scribble cell polarity complex component

Synonyms

Lgl1

MMRRC Submission

042502-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4898 (G1)

Quality Score

204

Status

Not 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: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,639,111 (GRCm39)	Y944C	probably damaging	Het
Acacb	T	C	5: 114,370,999 (GRCm39)	V1747A	probably benign	Het
Acad8	C	T	9: 26,889,698 (GRCm39)	R332H	probably damaging	Het
Acrbp	A	C	6: 125,027,501 (GRCm39)	T50P	probably damaging	Het
Ahctf1	G	T	1: 179,583,077 (GRCm39)	N1500K	probably benign	Het
Aoc1l3	A	G	6: 48,964,651 (GRCm39)	T220A	possibly damaging	Het
Arfgef1	A	G	1: 10,229,798 (GRCm39)	I1301T	possibly damaging	Het
Arhgef15	T	C	11: 68,842,171 (GRCm39)	S478G	probably benign	Het
Armh1	T	C	4: 117,094,977 (GRCm39)	D21G	probably damaging	Het
Atp13a4	A	T	16: 29,227,779 (GRCm39)	L1045*	probably null	Het
Atp2a3	T	A	11: 72,873,506 (GRCm39)	L793H	probably damaging	Het
B4galnt4	C	A	7: 140,648,173 (GRCm39)	P563Q	probably benign	Het
Bcl2a1b	A	T	9: 89,081,713 (GRCm39)	K94*	probably null	Het
Bod1	T	A	11: 31,616,853 (GRCm39)	Q136L	possibly damaging	Het
C2cd3	A	G	7: 100,055,166 (GRCm39)	K443R	probably damaging	Het
Cadps	A	G	14: 12,411,588 (GRCm38)	V1250A	possibly damaging	Het
Car12	T	A	9: 66,671,600 (GRCm39)	Y332*	probably null	Het
Ccdc186	A	T	19: 56,790,432 (GRCm39)		probably null	Het
Cdh6	T	C	15: 13,034,774 (GRCm39)	T629A	probably damaging	Het
Cep112	T	A	11: 108,397,471 (GRCm39)	D353E	probably damaging	Het
Cep152	T	C	2: 125,428,301 (GRCm39)	S777G	probably benign	Het
Clec4b2	A	C	6: 123,181,163 (GRCm39)	K183Q	probably benign	Het
Cngb3	T	C	4: 19,395,926 (GRCm39)	Y323H	probably benign	Het
Cnp	G	T	11: 100,467,202 (GRCm39)	E48D	probably benign	Het
Ctrb1	T	A	8: 112,413,783 (GRCm39)	I194F	probably benign	Het
Cyp2d11	T	A	15: 82,275,224 (GRCm39)	D241V	probably benign	Het
D5Ertd579e	T	A	5: 36,772,285 (GRCm39)	E703D	probably damaging	Het
Dlg1	T	C	16: 31,676,764 (GRCm39)	V731A	probably damaging	Het
Dlgap5	T	C	14: 47,651,276 (GRCm39)	S86G	probably benign	Het
Dock3	A	G	9: 106,807,266 (GRCm39)	F1354L	probably damaging	Het
Dock3	C	A	9: 106,870,171 (GRCm39)	V638F	possibly damaging	Het
Eif3c	A	T	7: 126,156,626 (GRCm39)	M407K	probably benign	Het
Eif4a3l1	A	T	6: 136,305,737 (GRCm39)	Q66L	possibly damaging	Het
Epha4	T	A	1: 77,366,712 (GRCm39)	K578*	probably null	Het
Erc2	C	T	14: 27,375,285 (GRCm39)	L168F	probably damaging	Het
Esyt2	A	G	12: 116,305,708 (GRCm39)	I313V	probably benign	Het
Far1	T	A	7: 113,167,432 (GRCm39)	Y506N	probably damaging	Het
Fbxw26	T	A	9: 109,547,037 (GRCm39)	N463Y	possibly damaging	Het
Fgg	A	G	3: 82,915,847 (GRCm39)	D96G	probably benign	Het
Gfer	A	G	17: 24,914,274 (GRCm39)	S130P	probably damaging	Het
Hdac10	A	T	15: 89,012,650 (GRCm39)	M1K	probably null	Het
Hsd3b1	A	T	3: 98,760,642 (GRCm39)	S110R	probably benign	Het
Ints15	A	G	5: 143,287,592 (GRCm39)	S438P	probably benign	Het
Itga6	T	C	2: 71,668,717 (GRCm39)	L552P	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lrrc8a	A	G	2: 30,147,214 (GRCm39)	K676R	probably benign	Het
Lrrc8b	A	T	5: 105,628,080 (GRCm39)	Y142F	probably benign	Het
Lyz2	T	A	10: 117,114,614 (GRCm39)	D105V	possibly damaging	Het
Mamdc4	T	C	2: 25,460,035 (GRCm39)	D76G	probably damaging	Het
Map7d1	T	C	4: 126,127,018 (GRCm39)	K731E	unknown	Het
Mgam	A	C	6: 40,619,988 (GRCm39)	I26L	probably benign	Het
Mmp13	A	T	9: 7,272,953 (GRCm39)	E104D	probably benign	Het
Morc2a	C	T	11: 3,626,664 (GRCm39)	R241*	probably null	Het
Mtfmt	C	A	9: 65,359,386 (GRCm39)	H354N	probably benign	Het
Myh3	T	C	11: 66,990,233 (GRCm39)	I1626T	probably benign	Het
Ndst1	A	T	18: 60,825,059 (GRCm39)	V753D	probably benign	Het
Neurl4	A	G	11: 69,793,997 (GRCm39)	D151G	probably damaging	Het
Nlrx1	T	C	9: 44,168,194 (GRCm39)	S568G	probably benign	Het
Or10g3b	G	C	14: 52,586,999 (GRCm39)	P168R	probably damaging	Het
Or2t45	T	C	11: 58,669,132 (GRCm39)	Y60H	possibly damaging	Het
Or2t46	T	G	11: 58,472,546 (GRCm39)	L292R	probably damaging	Het
Or4c52	T	C	2: 89,845,762 (GRCm39)	F163L	probably damaging	Het
Or52s1	A	G	7: 102,861,747 (GRCm39)	I216V	probably damaging	Het
Or6c66	A	T	10: 129,461,468 (GRCm39)	I154N	probably benign	Het
Or8b42	A	T	9: 38,342,111 (GRCm39)	M178L	probably benign	Het
Osbpl7	A	G	11: 96,950,976 (GRCm39)	I608V	probably damaging	Het
Pard3b	T	C	1: 61,807,159 (GRCm39)	I58T	probably damaging	Het
Pcare	A	G	17: 72,058,066 (GRCm39)	M537T	probably damaging	Het
Pcdhga1	A	C	18: 37,795,407 (GRCm39)	E137A	possibly damaging	Het
Pde6c	G	A	19: 38,139,072 (GRCm39)	V301I	possibly damaging	Het
Pdia5	G	C	16: 35,230,786 (GRCm39)	N338K	possibly damaging	Het
Pex11g	T	C	8: 3,514,042 (GRCm39)	Y40C	probably damaging	Het
Plekhg3	A	G	12: 76,610,899 (GRCm39)	Y183C	probably damaging	Het
Pole	A	C	5: 110,438,090 (GRCm39)		probably null	Het
Ppfia1	A	G	7: 144,045,313 (GRCm39)	L948P	probably damaging	Het
Prdm2	A	T	4: 142,860,761 (GRCm39)	V843E	probably damaging	Het
Prss56	C	A	1: 87,115,708 (GRCm39)	F527L	probably damaging	Het
Psmd11	T	C	11: 80,329,146 (GRCm39)	L88P	probably damaging	Het
Ptx3	G	C	3: 66,132,412 (GRCm39)	G311A	probably damaging	Het
Rars1	A	T	11: 35,699,385 (GRCm39)	L636H	probably damaging	Het
Rnft2	A	G	5: 118,375,507 (GRCm39)	S81P	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rxra	T	A	2: 27,631,195 (GRCm39)	I142N	probably damaging	Het
Scin	T	C	12: 40,154,931 (GRCm39)	M221V	probably benign	Het
Sfmbt2	G	A	2: 10,584,069 (GRCm39)	V809I	possibly damaging	Het
Sirt1	T	A	10: 63,157,783 (GRCm39)	I505F	probably benign	Het
Six5	T	C	7: 18,829,096 (GRCm39)	Y179H	probably damaging	Het
Slc12a4	A	C	8: 106,671,241 (GRCm39)	M982R	probably damaging	Het
Slco4c1	T	A	1: 96,765,237 (GRCm39)	L404F	probably damaging	Het
Smn1	T	C	13: 100,268,931 (GRCm39)	L259P	probably damaging	Het
Sorl1	T	G	9: 41,952,935 (GRCm39)	D702A	probably damaging	Het
Spta1	A	G	1: 174,065,400 (GRCm39)	E1983G	possibly damaging	Het
Srsf1	T	A	11: 87,940,788 (GRCm39)		probably null	Het
Stard9	C	T	2: 120,536,900 (GRCm39)	R4224*	probably null	Het
Sybu	T	G	15: 44,538,895 (GRCm39)	M383L	probably benign	Het
Tbx15	A	C	3: 99,259,583 (GRCm39)	N485H	possibly damaging	Het
Tcerg1l	A	T	7: 137,819,786 (GRCm39)	F485I	probably damaging	Het
Tdrd7	C	A	4: 46,005,616 (GRCm39)	T474N	possibly damaging	Het
Thada	A	T	17: 84,755,470 (GRCm39)		probably null	Het
Tnik	A	T	3: 28,704,235 (GRCm39)	I1020F	probably damaging	Het
Tnxb	A	G	17: 34,914,566 (GRCm39)	D1884G	possibly damaging	Het
Tprn	T	C	2: 25,158,845 (GRCm39)	M623T	probably damaging	Het
Trdn	T	A	10: 33,350,413 (GRCm39)	Y661N	probably damaging	Het
Ttc41	T	C	10: 86,612,056 (GRCm39)	S1110P	possibly damaging	Het
Ttc6	A	C	12: 57,707,026 (GRCm39)	R644S	probably benign	Het
Ttyh1	A	T	7: 4,136,735 (GRCm39)	M448L	probably benign	Het
Unc79	G	T	12: 103,128,079 (GRCm39)	C2250F	probably damaging	Het
Ush2a	A	G	1: 188,358,805 (GRCm39)	I2110M	probably benign	Het
Uvssa	G	T	5: 33,571,257 (GRCm39)	E634*	probably null	Het
Vac14	A	C	8: 111,372,440 (GRCm39)	T384P	probably benign	Het
Wdr11	A	G	7: 129,235,445 (GRCm39)	E1169G	probably benign	Het
Zfp36l1	T	A	12: 80,157,298 (GRCm39)	T28S	probably benign	Het
Zfp715	A	T	7: 42,949,106 (GRCm39)	Y285N	possibly damaging	Het
Zfp91	A	T	19: 12,747,424 (GRCm39)	D566E	probably damaging	Het
Zgrf1	G	A	3: 127,396,085 (GRCm39)	V544M	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
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'- CAGCTCAGTGAAGGCTTTGG -3'
(R):5'- ACCTCGTGCCACATACCTAG -3'

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

Posted On

2016-03-17