Mutagenetix > Incidental Mutation

Incidental Mutation 'R4688:Stil'

353837

Institutional Source

Beutler Lab

Gene Symbol

Stil

Ensembl Gene

ENSMUSG00000028718

Gene Name

Scl/Tal1 interrupting locus

Synonyms

Sil

MMRRC Submission

041939-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4688 (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 114898505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1045 (Y1045C)

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 damaging
Transcript: ENSMUST00000030490
AA Change: Y1045C

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

SMART Domains

Protein: ENSMUSP00000030490
Gene: ENSMUSG00000028718
AA Change: Y1045C

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

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,139,680 (GRCm39)	N535S	probably damaging	Het
Abcc12	T	C	8: 87,275,323 (GRCm39)	S452G	possibly damaging	Het
Acacb	C	A	5: 114,342,824 (GRCm39)	Q897K	probably benign	Het
Acot3	C	A	12: 84,100,691 (GRCm39)	R145S	probably damaging	Het
Ankrd54	A	T	15: 78,938,782 (GRCm39)	Y247N	probably damaging	Het
Arl11	G	A	14: 61,548,546 (GRCm39)	V119I	probably benign	Het
Atosb	A	G	4: 43,034,663 (GRCm39)	F352S	probably damaging	Het
Atxn7	T	A	14: 14,089,288 (GRCm38)	M268K	probably benign	Het
Bms1	G	A	6: 118,369,667 (GRCm39)	R934C	probably damaging	Het
Brd10	A	G	19: 29,694,501 (GRCm39)	I1664T	probably benign	Het
Chrnb3	T	C	8: 27,884,147 (GRCm39)	S295P	probably damaging	Het
Cic	TCCCCC	TCCCCCCC	7: 24,991,095 (GRCm39)		probably null	Het
Cnr1	A	T	4: 33,944,571 (GRCm39)	I320F	probably benign	Het
Cntn4	C	T	6: 106,414,910 (GRCm39)	P147L	probably damaging	Het
Col24a1	G	A	3: 145,020,144 (GRCm39)	V172I	probably benign	Het
Col9a3	A	G	2: 180,249,424 (GRCm39)	D262G	probably damaging	Het
Csrnp2	A	G	15: 100,380,241 (GRCm39)	V350A	probably damaging	Het
D630045J12Rik	A	G	6: 38,173,592 (GRCm39)	V192A	possibly damaging	Het
Deptor	A	G	15: 55,072,177 (GRCm39)	M219V	probably benign	Het
Dmrtb1	A	T	4: 107,541,247 (GRCm39)	L38Q	probably damaging	Het
Dvl2	G	A	11: 69,898,344 (GRCm39)	R367Q	possibly damaging	Het
Dync1h1	T	G	12: 110,621,962 (GRCm39)	I3435S	probably damaging	Het
Ecpas	A	G	4: 58,840,757 (GRCm39)	V667A	probably damaging	Het
Eif2b3	A	G	4: 116,916,046 (GRCm39)	N218D	probably benign	Het
Epha2	A	G	4: 141,046,292 (GRCm39)	D497G	probably benign	Het
Epha7	G	T	4: 28,821,367 (GRCm39)	L177F	probably damaging	Het
Fam98c	C	T	7: 28,854,666 (GRCm39)	E147K	probably damaging	Het
Fbxo17	A	G	7: 28,431,979 (GRCm39)	T19A	probably benign	Het
Fbxo47	A	G	11: 97,747,049 (GRCm39)	F339S	probably damaging	Het
Frmd4a	G	T	2: 4,542,122 (GRCm39)	V234L	possibly damaging	Het
Gal3st2	A	G	1: 93,800,245 (GRCm39)	D32G	probably damaging	Het
Gpr135	T	C	12: 72,117,720 (GRCm39)	T16A	probably benign	Het
Gpr160	A	T	3: 30,950,835 (GRCm39)	R302S	probably benign	Het
Hrh2	C	A	13: 54,368,820 (GRCm39)	N265K	probably benign	Het
Htatip2	C	A	7: 49,423,171 (GRCm39)	A242E	probably damaging	Het
Igfbp7	T	C	5: 77,555,482 (GRCm39)	Y127C	probably damaging	Het
Igkv16-104	A	G	6: 68,402,878 (GRCm39)	Q57R	possibly damaging	Het
Ino80c	A	G	18: 24,241,903 (GRCm39)	S161P	probably damaging	Het
Itprid1	G	A	6: 55,944,132 (GRCm39)		probably null	Het
Kcnc1	A	G	7: 46,047,259 (GRCm39)	D53G	probably benign	Het
Khdc4	T	A	3: 88,593,824 (GRCm39)	M71K	probably damaging	Het
Lce1h	G	T	3: 92,670,874 (GRCm39)	R93S	unknown	Het
Lce1k	T	C	3: 92,713,951 (GRCm39)	S78G	unknown	Het
Lhcgr	T	A	17: 89,072,580 (GRCm39)	I156F	probably damaging	Het
Lpl	T	C	8: 69,352,077 (GRCm39)	Y343H	probably damaging	Het
Lrp6	G	T	6: 134,456,706 (GRCm39)	R853S	probably damaging	Het
Lrrc7	A	G	3: 157,854,242 (GRCm39)	V1322A	probably damaging	Het
Lrrc74a	C	T	12: 86,784,472 (GRCm39)	Q67*	probably null	Het
Megf6	A	T	4: 154,338,271 (GRCm39)	D447V	probably damaging	Het
Mep1a	T	C	17: 43,793,139 (GRCm39)	D355G	possibly damaging	Het
Ncoa1	T	C	12: 4,365,781 (GRCm39)	D95G	probably benign	Het
Npepl1	A	T	2: 173,956,235 (GRCm39)	I139F	possibly damaging	Het
Nrcam	T	C	12: 44,594,020 (GRCm39)	S262P	probably benign	Het
Nrp1	A	G	8: 129,229,047 (GRCm39)	N842D	probably benign	Het
Olfml3	A	G	3: 103,639,497 (GRCm39)		probably benign	Het
Or1x6	A	G	11: 50,939,815 (GRCm39)	R294G	probably damaging	Het
Or4b1d	T	A	2: 89,969,343 (GRCm39)	N47Y	possibly damaging	Het
Or6b6	T	A	7: 106,571,068 (GRCm39)	Y161F	probably benign	Het
Or6c204	G	A	10: 129,022,514 (GRCm39)	P259S	probably damaging	Het
Or6k8-ps1	T	C	1: 173,979,162 (GRCm39)	Y27H	possibly damaging	Het
Or8b3b	A	G	9: 38,584,659 (GRCm39)	L27P	probably damaging	Het
Or9i1b	A	T	19: 13,896,605 (GRCm39)	T74S	probably benign	Het
Pde2a	A	G	7: 101,152,041 (GRCm39)	N316S	probably benign	Het
Pde4dip	T	A	3: 97,750,993 (GRCm39)	R74*	probably null	Het
Pex13	A	T	11: 23,605,472 (GRCm39)	W253R	possibly damaging	Het
Piezo1	A	T	8: 123,215,278 (GRCm39)	W1444R	probably damaging	Het
Pla2g4e	T	C	2: 119,998,414 (GRCm39)	K843R	possibly damaging	Het
Plxna2	C	T	1: 194,326,753 (GRCm39)	P229L	probably damaging	Het
Prelid3b	G	T	2: 174,308,592 (GRCm39)	T131K	probably benign	Het
Pros1	T	C	16: 62,709,370 (GRCm39)		probably null	Het
Prrc2c	G	T	1: 162,525,256 (GRCm39)	P450Q	unknown	Het
Ptbp1	G	T	10: 79,692,342 (GRCm39)	V5F	possibly damaging	Het
Ptk2	T	A	15: 73,078,074 (GRCm39)	L997F	probably damaging	Het
Rims1	G	T	1: 22,518,528 (GRCm39)	S525*	probably null	Het
Sanbr	A	G	11: 23,543,449 (GRCm39)	S530P	probably benign	Het
Sh2b3	T	A	5: 121,956,697 (GRCm39)	D318V	probably benign	Het
Slc16a13	A	T	11: 70,111,101 (GRCm39)	I88N	probably damaging	Het
Slit2	T	A	5: 48,414,345 (GRCm39)		probably null	Het
Snx10	A	G	6: 51,556,918 (GRCm39)	N67S	probably damaging	Het
Stra6	A	G	9: 58,042,359 (GRCm39)		probably null	Het
Sympk	A	G	7: 18,788,335 (GRCm39)	S1254G	probably benign	Het
Syt15	G	T	14: 33,950,011 (GRCm39)	G377V	probably damaging	Het
Taar4	A	T	10: 23,836,731 (GRCm39)	I114F	probably damaging	Het
Tcaf3	G	A	6: 42,570,300 (GRCm39)		probably null	Het
Tgm7	A	T	2: 120,924,502 (GRCm39)	N558K	probably benign	Het
Tln2	T	G	9: 67,304,935 (GRCm39)	M1L	probably benign	Het
Trim50	C	T	5: 135,395,994 (GRCm39)	T314I	probably damaging	Het
Trp53rka	A	T	2: 165,333,312 (GRCm39)	Y192*	probably null	Het
Ube3b	T	C	5: 114,531,139 (GRCm39)	V211A	probably benign	Het
Ush2a	A	G	1: 188,132,138 (GRCm39)	S787G	probably benign	Het
Vmn1r189	T	C	13: 22,286,289 (GRCm39)	M183V	probably damaging	Het
Vps13d	G	T	4: 144,904,782 (GRCm39)	Q115K	probably benign	Het
Zfp358	A	G	8: 3,545,493 (GRCm39)	D25G	probably damaging	Het
Zfp521	T	G	18: 13,977,647 (GRCm39)	K922T	probably damaging	Het
Zfp521	T	A	18: 13,977,648 (GRCm39)	K922*	probably null	Het
Zfp68	T	A	5: 138,614,743 (GRCm39)	K4*	probably null	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
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
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'- TGGGGAGTCAGTTTAGAAGCC -3'
(R):5'- GCTTTGTAAGAGTCCATACCTCTTC -3'

Sequencing Primer
(F):5'- GAGTCAGTTTAGAAGCCTTCGTAAG -3'
(R):5'- TATGTAGAAGGCCGACAG -3'

Posted On

2015-10-21