Mutagenetix > Incidental Mutation

Incidental Mutation 'R1895:Stil'

209721

Institutional Source

Beutler Lab

Gene Symbol

Stil

Ensembl Gene

ENSMUSG00000028718

Gene Name

Scl/Tal1 interrupting locus

Synonyms

Sil

MMRRC Submission

039915-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114857356-114900393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114881072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 539 (S539P)

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: S539P

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030490
Gene: ENSMUSG00000028718
AA Change: S539P

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

Meta Mutation Damage Score

0.0722

Coding Region Coverage

1x: 97.1%
3x: 96.2%
10x: 93.2%
20x: 86.6%

Validation Efficiency

96% (100/104)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,039,551 (GRCm39)	S253P	probably damaging	Het
Adgrb1	A	G	15: 74,412,314 (GRCm39)	D431G	probably damaging	Het
Adgrv1	C	T	13: 81,522,368 (GRCm39)	C5923Y	probably damaging	Het
Akr1b10	T	A	6: 34,365,805 (GRCm39)	I110N	probably damaging	Het
Apba2	T	C	7: 64,394,378 (GRCm39)		probably null	Het
Arhgef12	G	T	9: 42,917,152 (GRCm39)	Q396K	probably damaging	Het
Arpc1b	A	G	5: 145,059,443 (GRCm39)	T56A	probably null	Het
Atoh1	T	C	6: 64,706,443 (GRCm39)	V46A	probably benign	Het
AU015836	T	C	X: 93,012,985 (GRCm39)		probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Capn13	T	C	17: 73,657,520 (GRCm39)	E240G	possibly damaging	Het
Cdh8	T	C	8: 100,006,189 (GRCm39)	T133A	possibly damaging	Het
Cep295	T	C	9: 15,243,399 (GRCm39)	T1686A	possibly damaging	Het
Col4a3	A	T	1: 82,656,829 (GRCm39)	K749N	unknown	Het
Col6a3	T	A	1: 90,731,433 (GRCm39)	M1000L	probably benign	Het
Coq8b	G	A	7: 26,939,299 (GRCm39)	V150I	possibly damaging	Het
Dmxl1	G	T	18: 50,088,981 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,835,494 (GRCm39)	D990G	probably benign	Het
Dpp7	G	T	2: 25,243,691 (GRCm39)		probably null	Het
Eif3l	A	G	15: 78,973,677 (GRCm39)	N364S	possibly damaging	Het
Epb41l5	T	C	1: 119,476,902 (GRCm39)	D718G	possibly damaging	Het
F930017D23Rik	G	A	10: 43,469,440 (GRCm39)		noncoding transcript	Het
Fam20a	T	C	11: 109,564,380 (GRCm39)	K458E	probably benign	Het
Fbxo44	C	G	4: 148,240,726 (GRCm39)	R220S	probably damaging	Het
Fut2	A	G	7: 45,300,748 (GRCm39)	F8S	probably damaging	Het
Gad2	A	T	2: 22,575,440 (GRCm39)	T515S	probably benign	Het
Glmn	T	C	5: 107,718,110 (GRCm39)	D269G	probably benign	Het
Gpatch4	A	G	3: 87,959,409 (GRCm39)	Y106C	probably damaging	Het
Grm3	A	G	5: 9,562,123 (GRCm39)	W576R	probably damaging	Het
Hdac7	T	C	15: 97,694,767 (GRCm39)	D701G	probably damaging	Het
Hectd2	T	A	19: 36,591,860 (GRCm39)	I687K	probably damaging	Het
Hmcn2	T	C	2: 31,295,647 (GRCm39)	S2619P	probably damaging	Het
Ilf3	T	A	9: 21,316,063 (GRCm39)		probably benign	Het
Kdm4b	T	A	17: 56,704,340 (GRCm39)	V272E	probably damaging	Het
Kera	A	G	10: 97,445,009 (GRCm39)	K123E	probably benign	Het
Kif11	G	A	19: 37,375,847 (GRCm39)	R220K	probably damaging	Het
Kmt2c	A	T	5: 25,520,152 (GRCm39)	V1986E	probably benign	Het
Lrp11	T	C	10: 7,499,540 (GRCm39)	Y244H	probably damaging	Het
Lrp1b	T	A	2: 40,555,159 (GRCm39)	D320V	unknown	Het
Map4k5	A	T	12: 69,892,529 (GRCm39)	D133E	probably damaging	Het
Megf11	A	T	9: 64,586,558 (GRCm39)	D461V	probably damaging	Het
Muc5b	A	C	7: 141,411,382 (GRCm39)	T1443P	unknown	Het
Mxi1	G	A	19: 53,358,775 (GRCm39)	R236H	probably benign	Het
Nav1	A	T	1: 135,386,396 (GRCm39)	W1211R	probably damaging	Het
Ncoa3	T	A	2: 165,901,097 (GRCm39)	N896K	possibly damaging	Het
Nmt2	T	A	2: 3,323,672 (GRCm39)	I355N	probably benign	Het
Nxpe5	T	C	5: 138,249,785 (GRCm39)	V525A	probably damaging	Het
Oas1f	A	T	5: 120,993,648 (GRCm39)	T287S	probably benign	Het
Or1n1b	A	T	2: 36,780,458 (GRCm39)	M134K	possibly damaging	Het
Or5ae1	T	C	7: 84,565,487 (GRCm39)	S167P	probably benign	Het
Or6ae1	T	A	7: 139,742,726 (GRCm39)	I46F	possibly damaging	Het
Or7a38	T	A	10: 78,752,758 (GRCm39)	I28N	probably damaging	Het
Or8b3	T	A	9: 38,314,182 (GRCm39)	M1K	probably null	Het
Pakap	T	C	4: 57,638,068 (GRCm39)	V35A	probably benign	Het
Panx1	A	G	9: 14,918,822 (GRCm39)	C346R	probably benign	Het
Plekha7	T	C	7: 115,744,209 (GRCm39)	E764G	probably damaging	Het
Plet1	A	G	9: 50,415,652 (GRCm39)		probably null	Het
Plod2	A	G	9: 92,489,188 (GRCm39)	S707G	probably damaging	Het
Plscr4	G	A	9: 92,365,889 (GRCm39)	V120I	probably damaging	Het
Pramel31	T	A	4: 144,088,435 (GRCm39)	V77E	probably benign	Het
Prob1	T	A	18: 35,785,942 (GRCm39)	T771S	possibly damaging	Het
Rasa3	A	G	8: 13,681,768 (GRCm39)		probably benign	Het
Ror2	T	C	13: 53,285,885 (GRCm39)	I110V	probably damaging	Het
Sec24d	A	T	3: 123,147,043 (GRCm39)	H667L	probably benign	Het
Sema3d	A	G	5: 12,623,810 (GRCm39)	Q573R	probably damaging	Het
Serpinb2	T	A	1: 107,452,337 (GRCm39)	V305D	probably damaging	Het
Slc11a2	G	A	15: 100,301,775 (GRCm39)	R249C	probably benign	Het
Slc14a1	T	C	18: 78,152,912 (GRCm39)	I276V	possibly damaging	Het
Snx19	T	A	9: 30,343,620 (GRCm39)	N593K	probably damaging	Het
Ssh2	C	G	11: 77,340,571 (GRCm39)	D574E	probably damaging	Het
Syt4	T	C	18: 31,577,141 (GRCm39)	K71R	probably damaging	Het
Tenm4	A	T	7: 96,385,015 (GRCm39)	H524L	probably damaging	Het
Tex30	C	T	1: 44,130,564 (GRCm39)	G68D	probably damaging	Het
Tm4sf19	A	G	16: 32,226,500 (GRCm39)	Y138C	probably damaging	Het
Tmem43	A	T	6: 91,463,891 (GRCm39)	I389F	probably benign	Het
Trpm1	A	T	7: 63,873,556 (GRCm39)	N488Y	probably damaging	Het
Tshz1	A	T	18: 84,031,558 (GRCm39)	L950Q	probably damaging	Het
Vmn1r16	T	C	6: 57,299,885 (GRCm39)	I246V	probably benign	Het
Vmn1r188	T	G	13: 22,272,815 (GRCm39)	S256R	possibly damaging	Het
Zfp12	G	A	5: 143,231,133 (GRCm39)	E487K	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
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

Predicted Primers

PCR Primer
(F):5'- TGATGCCAAACACAGCTCAG -3'
(R):5'- TGGCCATGATGCTGACAAC -3'

Sequencing Primer
(F):5'- TCAGTTAAGTCAGGACACTGC -3'
(R):5'- CTGACAACAGCTGCAGACGTTTG -3'

Posted On

2014-06-30