Mutagenetix > Incidental Mutations

Incidental Mutation 'R0620:Stil'

58591

Institutional Source

Beutler Lab

Gene Symbol

Stil

Ensembl Gene

ENSMUSG00000028718

Gene Name

Scl/Tal1 interrupting locus

Synonyms

Sil

MMRRC Submission

038809-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115000159-115043196 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115007159 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 86 (I86L)

Ref Sequence

ENSEMBL: ENSMUSP00000030490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030490] [ENSMUST00000129957] [ENSMUST00000141933] [ENSMUST00000147519]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030490
AA Change: I86L

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030490
Gene: ENSMUSG00000028718
AA Change: I86L

Domain	Start	End	E-Value	Type
Pfam:STIL_N	22	426	5.1e-199	PFAM
low complexity region	709	724	N/A	INTRINSIC
low complexity region	1106	1118	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129957
AA Change: I86L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123385
Gene: ENSMUSG00000028718
AA Change: I86L

Domain	Start	End	E-Value	Type
Pfam:STIL_N	22	416	1.5e-180	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130401

Predicted Effect

probably benign
Transcript: ENSMUST00000141933
AA Change: I86L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000118849
Gene: ENSMUSG00000028718
AA Change: I86L

Domain	Start	End	E-Value	Type
Pfam:STIL_N	22	392	6.6e-166	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147519
AA Change: I20L

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120836
Gene: ENSMUSG00000028718
AA Change: I20L

Domain	Start	End	E-Value	Type
Pfam:STIL_N	1	78	5.3e-34	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: This gene encodes a centrosomal protein ubiquitously expressed in proliferating cells and during early embryonic development. Mice lacking the encoded protein die in utero with marked growth retardation, defects in the developing neural fold and randomization of left-right asymmetry. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos with various neural tube defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	A	T	6: 149,328,375	Q973L	probably damaging	Het
Adamts9	T	C	6: 92,858,113	T679A	possibly damaging	Het
Ahr	T	C	12: 35,508,194	T276A	probably benign	Het
Akap9	A	T	5: 4,064,136	Q3138H	probably damaging	Het
Armt1	T	A	10: 4,432,689	F7I	probably benign	Het
B3galt2	A	G	1: 143,646,140	R5G	probably damaging	Het
Bod1l	T	C	5: 41,801,233	N2750S	probably benign	Het
Cadps2	T	A	6: 23,583,396	E365V	probably damaging	Het
Cd200r3	T	A	16: 44,957,717		probably null	Het
Cst7	T	A	2: 150,575,886		probably benign	Het
Defb30	A	T	14: 63,049,763		probably benign	Het
Dido1	C	T	2: 180,659,851	G2087S	probably benign	Het
Dio2	A	G	12: 90,738,071	Y72H	probably benign	Het
Dnah11	C	T	12: 117,987,469	E3035K	probably damaging	Het
Dnajb13	T	C	7: 100,503,249	K287E	possibly damaging	Het
Dnajc11	G	A	4: 151,973,628	V244I	possibly damaging	Het
Ect2	C	T	3: 27,139,652	A226T	probably damaging	Het
Ercc8	G	A	13: 108,174,061		probably null	Het
Fam120b	T	A	17: 15,402,927	M389K	probably benign	Het
Fam151a	A	G	4: 106,747,931	M497V	probably benign	Het
Fam186b	C	A	15: 99,280,128	G439V	probably benign	Het
Fank1	A	G	7: 133,876,765	Y185C	probably damaging	Het
Gart	T	C	16: 91,630,602		probably benign	Het
Glb1l	T	C	1: 75,199,720	Y572C	probably damaging	Het
Gm11563	C	T	11: 99,658,437	A164T	unknown	Het
Gnb4	C	T	3: 32,591,207	V112I	probably benign	Het
Gsdmc3	T	A	15: 63,859,693	D330V	probably damaging	Het
H2-DMa	C	T	17: 34,137,960	T144M	probably damaging	Het
Haus6	A	T	4: 86,583,514	F707I	possibly damaging	Het
Hmcn1	T	A	1: 150,594,016	T4971S	probably benign	Het
Ints6	A	T	14: 62,696,759	F766L	probably benign	Het
Kdm5d	T	A	Y: 927,330	M650K	probably damaging	Het
Kif21b	T	C	1: 136,159,428	F881S	possibly damaging	Het
Klrk1	C	A	6: 129,614,635	Q176H	possibly damaging	Het
Ky	T	C	9: 102,537,621	V244A	probably benign	Het
Mia2	T	A	12: 59,154,419	L191M	possibly damaging	Het
Miga2	T	A	2: 30,381,744		probably benign	Het
Mtss1l	C	T	8: 110,737,948	P322S	probably damaging	Het
Nalcn	A	G	14: 123,299,141		probably benign	Het
Ncbp3	T	A	11: 73,049,845		probably benign	Het
Nprl3	G	A	11: 32,234,876	L378F	probably damaging	Het
Ntrk2	A	T	13: 58,846,821	M184L	probably benign	Het
Olfr311	T	G	11: 58,841,443	C110G	probably damaging	Het
Olfr738	G	T	14: 50,413,697	C51F	probably benign	Het
Osbpl9	T	C	4: 109,083,128	E287G	probably damaging	Het
Parva	T	C	7: 112,576,411	F250L	probably damaging	Het
Pcdhb11	C	T	18: 37,421,811	Q65*	probably null	Het
Phtf1	A	G	3: 103,993,765	T377A	probably damaging	Het
Pkp4	G	A	2: 59,322,643	V612I	possibly damaging	Het
Plscr2	C	A	9: 92,287,654	S52R	probably benign	Het
Pnisr	C	T	4: 21,874,092		probably benign	Het
Pole2	A	C	12: 69,209,879	S291A	probably damaging	Het
Ppp2r5d	A	G	17: 46,684,018	F586L	probably benign	Het
Prrx1	G	A	1: 163,257,816	R182C	probably damaging	Het
Ptprs	A	G	17: 56,429,103	I110T	possibly damaging	Het
Rasgrf2	G	A	13: 91,919,817		probably benign	Het
Riox2	T	C	16: 59,491,892	V464A	probably benign	Het
Robo2	A	G	16: 73,967,802	V646A	possibly damaging	Het
Ros1	T	A	10: 52,118,348	I1279F	probably damaging	Het
Siglec1	G	A	2: 131,074,268	T1254M	probably benign	Het
Snx7	T	C	3: 117,846,675	N62D	probably damaging	Het
Sp100	G	A	1: 85,659,867		probably null	Het
Tbc1d16	T	A	11: 119,209,038	D170V	probably benign	Het
Tmem2	T	A	19: 21,817,971	S743T	probably benign	Het
Trappc13	G	A	13: 104,161,081	T105M	probably damaging	Het
Trhr	T	A	15: 44,229,500	S378T	probably benign	Het
Ttc7b	T	C	12: 100,500,073		probably null	Het
Vegfc	A	T	8: 54,157,139	Y110F	probably benign	Het
Vmn1r184	C	A	7: 26,267,177	P116H	possibly damaging	Het
Vmn2r5	A	T	3: 64,503,814	C444*	probably null	Het
Zfp341	A	G	2: 154,634,273	E460G	possibly damaging	Het
Zfp819	T	A	7: 43,616,444	V41E	probably benign	Het

Other mutations in Stil

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Stil	APN	4	115024112	missense	probably benign	0.29
IGL01672:Stil	APN	4	115032789	missense	probably damaging	1.00
IGL02058:Stil	APN	4	115014162	missense	probably benign	0.00
IGL02076:Stil	APN	4	115023637	missense	probably benign	0.03
IGL02104:Stil	APN	4	115041482	missense	probably damaging	1.00
IGL02355:Stil	APN	4	115010111	missense	probably damaging	1.00
IGL02362:Stil	APN	4	115010111	missense	probably damaging	1.00
IGL02612:Stil	APN	4	115023696	missense	possibly damaging	0.80
IGL02695:Stil	APN	4	115016175	missense	probably damaging	1.00
IGL02696:Stil	APN	4	115041495	missense	probably damaging	0.99
IGL02826:Stil	APN	4	115024098	missense	probably benign	0.01
IGL02946:Stil	APN	4	115029913	missense	probably benign	0.05
IGL03146:Stil	APN	4	115024415	missense	probably damaging	1.00
BB005:Stil	UTSW	4	115030001	missense	probably damaging	0.98
BB015:Stil	UTSW	4	115030001	missense	probably damaging	0.98
R0058:Stil	UTSW	4	115041298	missense	probably damaging	1.00
R0256:Stil	UTSW	4	115023685	missense	possibly damaging	0.80
R0324:Stil	UTSW	4	115039149	missense	probably benign	0.01
R0391:Stil	UTSW	4	115041172	critical splice acceptor site	probably null
R0602:Stil	UTSW	4	115024423	splice site	probably benign
R1452:Stil	UTSW	4	115039195	missense	probably benign	0.00
R1462:Stil	UTSW	4	115023964	missense	probably benign	0.00
R1462:Stil	UTSW	4	115023964	missense	probably benign	0.00
R1544:Stil	UTSW	4	115023852	missense	probably damaging	0.97
R1789:Stil	UTSW	4	115041782	missense	probably benign	0.01
R1878:Stil	UTSW	4	115041226	missense	probably damaging	1.00
R1895:Stil	UTSW	4	115023875	missense	probably benign	0.40
R2325:Stil	UTSW	4	115032707	missense	probably benign	0.12
R2401:Stil	UTSW	4	115016286	missense	probably null	0.81
R3054:Stil	UTSW	4	115004966	missense	probably damaging	1.00
R3055:Stil	UTSW	4	115014069	splice site	probably benign
R4097:Stil	UTSW	4	115023600	missense	probably benign	0.04
R4330:Stil	UTSW	4	115004979	missense	probably damaging	1.00
R4418:Stil	UTSW	4	115009377	missense	probably benign	0.17
R4665:Stil	UTSW	4	115041644	missense	probably benign	0.00
R4688:Stil	UTSW	4	115041308	missense	probably damaging	1.00
R4740:Stil	UTSW	4	115006782	missense	probably benign	0.15
R4860:Stil	UTSW	4	115038474	missense	probably benign	0.01
R4860:Stil	UTSW	4	115038474	missense	probably benign	0.01
R4909:Stil	UTSW	4	115024225	nonsense	probably null
R6130:Stil	UTSW	4	115029861	splice site	probably null
R6523:Stil	UTSW	4	115032714	frame shift	probably null
R7294:Stil	UTSW	4	115007283	missense	probably benign	0.17
R7357:Stil	UTSW	4	115014226	critical splice donor site	probably null
R7387:Stil	UTSW	4	115024036	missense	probably benign	0.37
R7592:Stil	UTSW	4	115023808	missense	probably benign	0.00
R7776:Stil	UTSW	4	115032838	missense	possibly damaging	0.49
R7908:Stil	UTSW	4	115032699	missense	possibly damaging	0.68
R7928:Stil	UTSW	4	115030001	missense	probably damaging	0.98
R9064:Stil	UTSW	4	115041735	missense	probably benign	0.00
R9140:Stil	UTSW	4	115007252	missense	probably damaging	1.00
Z1088:Stil	UTSW	4	115006693	missense	probably damaging	1.00
Z1177:Stil	UTSW	4	115041379	missense	probably damaging	0.99

Predicted Primers

Posted On

2013-07-11