Mutagenetix > Incidental Mutation

Incidental Mutation 'R4330:Stil'

500595

Institutional Source

Beutler Lab

Gene Symbol

Stil

Ensembl Gene

ENSMUSG00000028718

Gene Name

Scl/Tal1 interrupting locus

Synonyms

Sil

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4330 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114857356-114900393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114862176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 40 (R40G)

Ref Sequence

ENSEMBL: ENSMUSP00000118849 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030490
AA Change: R40G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030490
Gene: ENSMUSG00000028718
AA Change: R40G

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 damaging
Transcript: ENSMUST00000129957
AA Change: R40G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123385
Gene: ENSMUSG00000028718
AA Change: R40G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000141933
AA Change: R40G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118849
Gene: ENSMUSG00000028718
AA Change: R40G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147519

SMART Domains

Protein: ENSMUSP00000120836
Gene: ENSMUSG00000028718

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	A	8: 44,079,287 (GRCm39)	K312N	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Cdh10	G	A	15: 19,000,045 (GRCm39)	V497I	probably damaging	Het
Chd4	T	C	6: 125,078,565 (GRCm39)	V229A	probably benign	Het
Cnr2	T	A	4: 135,644,237 (GRCm39)	I105N	possibly damaging	Het
Dnai1	A	G	4: 41,637,966 (GRCm39)	T701A	probably damaging	Het
Eri1	G	A	8: 35,936,383 (GRCm39)	R313*	probably null	Het
Hrh3	T	C	2: 179,741,665 (GRCm39)		probably benign	Het
Hs3st5	T	A	10: 36,708,726 (GRCm39)	V87D	probably benign	Het
Jmy	G	C	13: 93,635,390 (GRCm39)	P142R	probably damaging	Het
Jmy	C	A	13: 93,635,781 (GRCm39)	D12Y	probably damaging	Het
Mfsd4a	A	C	1: 131,981,291 (GRCm39)	M320R	possibly damaging	Het
Myocd	A	T	11: 65,114,590 (GRCm39)	H49Q	probably benign	Het
Nlk	A	G	11: 78,481,774 (GRCm39)	I229T	possibly damaging	Het
Rabl2	T	C	15: 89,471,137 (GRCm39)	D66G	probably benign	Het
Ramp1	C	T	1: 91,151,067 (GRCm39)	T144I	possibly damaging	Het
Rhbdf2	T	C	11: 116,492,782 (GRCm39)	K413R	probably benign	Het
Scpep1	G	A	11: 88,826,729 (GRCm39)	Q236*	probably null	Het
Syt7	T	C	19: 10,399,162 (GRCm39)	V86A	probably damaging	Het
Ubr2	A	T	17: 47,278,204 (GRCm39)	L711Q	probably null	Het
Vmn1r78	T	A	7: 11,886,386 (GRCm39)		probably null	Het
Zfp280d	C	T	9: 72,203,261 (GRCm39)	T3I	possibly damaging	Het
Zscan25	T	A	5: 145,227,361 (GRCm39)	F342I	probably damaging	Het

Other mutations in Stil

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Stil	APN	4	114,881,309 (GRCm39)	missense	probably benign	0.29
IGL01672:Stil	APN	4	114,889,986 (GRCm39)	missense	probably damaging	1.00
IGL02058:Stil	APN	4	114,871,359 (GRCm39)	missense	probably benign	0.00
IGL02076:Stil	APN	4	114,880,834 (GRCm39)	missense	probably benign	0.03
IGL02104:Stil	APN	4	114,898,679 (GRCm39)	missense	probably damaging	1.00
IGL02355:Stil	APN	4	114,867,308 (GRCm39)	missense	probably damaging	1.00
IGL02362:Stil	APN	4	114,867,308 (GRCm39)	missense	probably damaging	1.00
IGL02612:Stil	APN	4	114,880,893 (GRCm39)	missense	possibly damaging	0.80
IGL02695:Stil	APN	4	114,873,372 (GRCm39)	missense	probably damaging	1.00
IGL02696:Stil	APN	4	114,898,692 (GRCm39)	missense	probably damaging	0.99
IGL02826:Stil	APN	4	114,881,295 (GRCm39)	missense	probably benign	0.01
IGL02946:Stil	APN	4	114,887,110 (GRCm39)	missense	probably benign	0.05
IGL03146:Stil	APN	4	114,881,612 (GRCm39)	missense	probably damaging	1.00
BB005:Stil	UTSW	4	114,887,198 (GRCm39)	missense	probably damaging	0.98
BB015:Stil	UTSW	4	114,887,198 (GRCm39)	missense	probably damaging	0.98
R0058:Stil	UTSW	4	114,898,495 (GRCm39)	missense	probably damaging	1.00
R0256:Stil	UTSW	4	114,880,882 (GRCm39)	missense	possibly damaging	0.80
R0324:Stil	UTSW	4	114,896,346 (GRCm39)	missense	probably benign	0.01
R0391:Stil	UTSW	4	114,898,369 (GRCm39)	critical splice acceptor site	probably null
R0602:Stil	UTSW	4	114,881,620 (GRCm39)	splice site	probably benign
R0620:Stil	UTSW	4	114,864,356 (GRCm39)	missense	possibly damaging	0.52
R1452:Stil	UTSW	4	114,896,392 (GRCm39)	missense	probably benign	0.00
R1462:Stil	UTSW	4	114,881,161 (GRCm39)	missense	probably benign	0.00
R1462:Stil	UTSW	4	114,881,161 (GRCm39)	missense	probably benign	0.00
R1544:Stil	UTSW	4	114,881,049 (GRCm39)	missense	probably damaging	0.97
R1789:Stil	UTSW	4	114,898,979 (GRCm39)	missense	probably benign	0.01
R1878:Stil	UTSW	4	114,898,423 (GRCm39)	missense	probably damaging	1.00
R1895:Stil	UTSW	4	114,881,072 (GRCm39)	missense	probably benign	0.40
R2325:Stil	UTSW	4	114,889,904 (GRCm39)	missense	probably benign	0.12
R2401:Stil	UTSW	4	114,873,483 (GRCm39)	missense	probably null	0.81
R3054:Stil	UTSW	4	114,862,163 (GRCm39)	missense	probably damaging	1.00
R3055:Stil	UTSW	4	114,871,266 (GRCm39)	splice site	probably benign
R4097:Stil	UTSW	4	114,880,797 (GRCm39)	missense	probably benign	0.04
R4418:Stil	UTSW	4	114,866,574 (GRCm39)	missense	probably benign	0.17
R4665:Stil	UTSW	4	114,898,841 (GRCm39)	missense	probably benign	0.00
R4688:Stil	UTSW	4	114,898,505 (GRCm39)	missense	probably damaging	1.00
R4740:Stil	UTSW	4	114,863,979 (GRCm39)	missense	probably benign	0.15
R4860:Stil	UTSW	4	114,895,671 (GRCm39)	missense	probably benign	0.01
R4860:Stil	UTSW	4	114,895,671 (GRCm39)	missense	probably benign	0.01
R4909:Stil	UTSW	4	114,881,422 (GRCm39)	nonsense	probably null
R6130:Stil	UTSW	4	114,887,058 (GRCm39)	splice site	probably null
R6523:Stil	UTSW	4	114,889,911 (GRCm39)	frame shift	probably null
R7294:Stil	UTSW	4	114,864,480 (GRCm39)	missense	probably benign	0.17
R7357:Stil	UTSW	4	114,871,423 (GRCm39)	critical splice donor site	probably null
R7387:Stil	UTSW	4	114,881,233 (GRCm39)	missense	probably benign	0.37
R7592:Stil	UTSW	4	114,881,005 (GRCm39)	missense	probably benign	0.00
R7776:Stil	UTSW	4	114,890,035 (GRCm39)	missense	possibly damaging	0.49
R7908:Stil	UTSW	4	114,889,896 (GRCm39)	missense	possibly damaging	0.68
R7928:Stil	UTSW	4	114,887,198 (GRCm39)	missense	probably damaging	0.98
R9064:Stil	UTSW	4	114,898,932 (GRCm39)	missense	probably benign	0.00
R9140:Stil	UTSW	4	114,864,449 (GRCm39)	missense	probably damaging	1.00
R9500:Stil	UTSW	4	114,878,716 (GRCm39)	missense	possibly damaging	0.93
R9695:Stil	UTSW	4	114,881,378 (GRCm39)	missense	probably damaging	1.00
R9697:Stil	UTSW	4	114,878,701 (GRCm39)	missense	probably benign	0.45
Z1088:Stil	UTSW	4	114,863,890 (GRCm39)	missense	probably damaging	1.00
Z1177:Stil	UTSW	4	114,898,576 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTTAGAATGCCTGGCAAAGAG -3'
(R):5'- CATCCACATAAAAGATGGGTGC -3'

Sequencing Primer
(F):5'- GCCTGGCAAAGAGAATTAACTTTC -3'
(R):5'- CCAGAGCTAGTGAGATCCTGATTC -3'

Posted On

2017-12-01