Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01506:Stil'

89055

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01506

Quality Score

Status

Chromosome

Chromosomal Location

114857356-114900393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114881309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 618 (S618P)

Ref Sequence

ENSEMBL: ENSMUSP00000030490 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030490
AA Change: S618P

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030490
Gene: ENSMUSG00000028718
AA Change: S618P

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

SMART Domains

Protein: ENSMUSP00000123385
Gene: ENSMUSG00000028718

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

SMART Domains

Protein: ENSMUSP00000118849
Gene: ENSMUSG00000028718

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144316

Coding Region Coverage

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
Abca13	T	C	11: 9,247,447 (GRCm39)	V2398A	probably benign	Het
Abhd2	T	A	7: 78,975,200 (GRCm39)	I130N	possibly damaging	Het
Adamts15	A	T	9: 30,833,430 (GRCm39)	I35N	probably benign	Het
Car8	T	A	4: 8,169,761 (GRCm39)	E249V	probably damaging	Het
Dpp8	A	G	9: 64,970,699 (GRCm39)		probably benign	Het
Gstm2	T	G	3: 107,892,559 (GRCm39)		probably null	Het
Kcnmb4	A	G	10: 116,309,251 (GRCm39)	V59A	probably benign	Het
Krt76	T	C	15: 101,800,835 (GRCm39)	I154V	probably damaging	Het
Lama1	G	A	17: 68,092,065 (GRCm39)	R1646H	probably benign	Het
Larp1b	C	A	3: 40,987,875 (GRCm39)	Y32*	probably null	Het
Magea4	G	A	X: 71,266,376 (GRCm39)	D252N	probably damaging	Het
Mat1a	C	A	14: 40,831,395 (GRCm39)	A41E	probably damaging	Het
Neb	A	T	2: 52,137,202 (GRCm39)	V3190E	probably damaging	Het
Nop53	G	A	7: 15,674,082 (GRCm39)	P249L	probably damaging	Het
Or8b44	A	G	9: 38,410,171 (GRCm39)	I69V	probably benign	Het
Osbpl7	T	C	11: 96,943,126 (GRCm39)	L126P	probably benign	Het
Plxna4	A	T	6: 32,493,470 (GRCm39)	L382Q	probably damaging	Het
Poli	G	A	18: 70,642,802 (GRCm39)	T403I	probably benign	Het
Slc44a2	T	C	9: 21,249,246 (GRCm39)	Y9H	probably benign	Het
Snx4	T	C	16: 33,084,624 (GRCm39)		probably benign	Het
Son	A	T	16: 91,454,174 (GRCm39)	I974L	possibly damaging	Het
Syndig1	C	T	2: 149,741,677 (GRCm39)	R88C	probably damaging	Het
Trpm1	T	A	7: 63,893,329 (GRCm39)	F944L	probably damaging	Het

Other mutations in Stil

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4330:Stil	UTSW	4	114,862,176 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-12-03