Mutagenetix > Incidental Mutation

Incidental Mutation 'R0391:Stil'

31671

Institutional Source

Beutler Lab

Gene Symbol

Stil

Ensembl Gene

ENSMUSG00000028718

Gene Name

Scl/Tal1 interrupting locus

Synonyms

Sil

MMRRC Submission

038597-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0391 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

114857356-114900393 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 114898369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000030490

SMART Domains

Protein: ENSMUSP00000030490
Gene: ENSMUSG00000028718

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

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

97% (97/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,594,970 (GRCm39)		probably benign	Het
Abcc2	G	A	19: 43,810,044 (GRCm39)		probably benign	Het
Abcc8	C	G	7: 45,771,597 (GRCm39)	G838A	probably damaging	Het
Akr1c21	G	A	13: 4,631,199 (GRCm39)	A245T	probably damaging	Het
Anapc15-ps	T	C	10: 95,509,139 (GRCm39)	E47G	probably damaging	Het
Apoa1	A	G	9: 46,141,140 (GRCm39)	T79A	probably benign	Het
Atp6v1b1	A	G	6: 83,733,903 (GRCm39)	H378R	possibly damaging	Het
C4b	A	G	17: 34,954,588 (GRCm39)		probably benign	Het
Catsperd	A	T	17: 56,969,821 (GRCm39)	E638D	probably benign	Het
Cckar	C	T	5: 53,863,595 (GRCm39)		probably null	Het
Cfap100	C	T	6: 90,382,321 (GRCm39)		probably benign	Het
Chd1	G	T	17: 15,970,156 (GRCm39)	G970C	probably damaging	Het
Col14a1	A	G	15: 55,309,655 (GRCm39)		probably benign	Het
Col17a1	C	T	19: 47,652,263 (GRCm39)	V698M	probably damaging	Het
Cpeb1	T	C	7: 81,011,473 (GRCm39)	D156G	possibly damaging	Het
Cryl1	A	G	14: 57,541,232 (GRCm39)	Y151H	possibly damaging	Het
Csmd3	C	A	15: 47,520,969 (GRCm39)	V1881L	probably damaging	Het
Ctnnal1	C	T	4: 56,847,921 (GRCm39)	A73T	probably damaging	Het
Cyp2c37	T	C	19: 39,982,950 (GRCm39)	S180P	probably damaging	Het
Cyp2c54	T	C	19: 40,060,613 (GRCm39)	T123A	possibly damaging	Het
Dennd6b	T	C	15: 89,071,417 (GRCm39)	D304G	probably damaging	Het
Dnmt3l	T	C	10: 77,887,750 (GRCm39)		probably benign	Het
Eci1	G	A	17: 24,652,234 (GRCm39)		probably null	Het
Efhc1	A	G	1: 21,030,412 (GRCm39)	Y115C	probably damaging	Het
Ern1	T	A	11: 106,298,004 (GRCm39)	K706*	probably null	Het
Ghrl	T	C	6: 113,696,299 (GRCm39)	E31G	probably damaging	Het
Gpr108	A	C	17: 57,550,101 (GRCm39)	V179G	probably benign	Het
Henmt1	A	G	3: 108,865,851 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,444,011 (GRCm39)	V69A	probably damaging	Het
Il17ra	T	C	6: 120,453,940 (GRCm39)		probably benign	Het
Il17rb	T	C	14: 29,726,304 (GRCm39)	N95D	probably benign	Het
Il17rb	G	T	14: 29,728,112 (GRCm39)		probably null	Het
Iqub	G	A	6: 24,446,154 (GRCm39)	L757F	probably benign	Het
Itpr1	T	C	6: 108,355,128 (GRCm39)	V473A	probably benign	Het
Itpr2	T	G	6: 146,131,271 (GRCm39)	N1978H	probably damaging	Het
Klk1b26	T	A	7: 43,662,151 (GRCm39)	F3Y	probably damaging	Het
Lars1	A	G	18: 42,384,428 (GRCm39)	V50A	probably benign	Het
Lax1	G	T	1: 133,607,804 (GRCm39)	H312Q	probably benign	Het
Lctl	T	C	9: 64,029,596 (GRCm39)		probably benign	Het
Lrp2	T	A	2: 69,287,202 (GRCm39)	D3745V	probably damaging	Het
Lrp2	G	A	2: 69,290,681 (GRCm39)		probably benign	Het
Lvrn	A	T	18: 46,983,533 (GRCm39)	H92L	probably benign	Het
Marchf1	A	G	8: 66,871,625 (GRCm39)	T385A	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mbd5	T	C	2: 49,162,428 (GRCm39)	V970A	possibly damaging	Het
Mccc1	A	G	3: 36,017,719 (GRCm39)		probably benign	Het
Mpp4	A	T	1: 59,182,988 (GRCm39)		probably benign	Het
Mrnip	G	A	11: 50,090,747 (GRCm39)	A304T	probably damaging	Het
Muc5b	T	C	7: 141,418,819 (GRCm39)	S3922P	possibly damaging	Het
Myh3	T	A	11: 66,987,333 (GRCm39)		probably benign	Het
Nbea	A	T	3: 55,944,698 (GRCm39)	H555Q	probably damaging	Het
Niban3	T	A	8: 72,055,143 (GRCm39)		probably benign	Het
Nlrp9c	A	T	7: 26,070,901 (GRCm39)		probably benign	Het
Nmur1	A	T	1: 86,315,400 (GRCm39)	V178E	probably damaging	Het
Nod2	T	G	8: 89,390,406 (GRCm39)	S238A	probably benign	Het
Ogfod1	A	T	8: 94,789,651 (GRCm39)	T451S	probably damaging	Het
Or1e17	T	C	11: 73,831,935 (GRCm39)	F288L	probably damaging	Het
Or2d36	T	A	7: 106,747,394 (GRCm39)	Y290*	probably null	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or8b8	G	A	9: 37,809,138 (GRCm39)	G146D	probably benign	Het
Pcdh20	T	C	14: 88,706,104 (GRCm39)	I399V	probably benign	Het
Pdlim1	G	T	19: 40,232,017 (GRCm39)	H120Q	probably damaging	Het
Plg	T	C	17: 12,637,968 (GRCm39)	V798A	probably damaging	Het
Polr2c	A	G	8: 95,584,403 (GRCm39)	I39V	possibly damaging	Het
Ppfia2	C	A	10: 106,666,575 (GRCm39)		probably benign	Het
Ppp1r3a	A	T	6: 14,719,696 (GRCm39)	I406N	probably benign	Het
Psg28	A	T	7: 18,160,098 (GRCm39)	M366K	probably benign	Het
Rad54b	T	C	4: 11,601,702 (GRCm39)	I419T	probably damaging	Het
Rnf43	A	G	11: 87,622,108 (GRCm39)	Q403R	possibly damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Slc28a3	A	G	13: 58,717,229 (GRCm39)		probably benign	Het
Smad2	A	T	18: 76,422,108 (GRCm39)		probably null	Het
Smad4	G	A	18: 73,791,720 (GRCm39)	P274S	probably benign	Het
Smchd1	A	T	17: 71,710,149 (GRCm39)	V906D	probably damaging	Het
Soat2	C	A	15: 102,067,188 (GRCm39)	R320S	possibly damaging	Het
Spata33	C	T	8: 123,948,626 (GRCm39)	A57V	probably damaging	Het
Stab1	A	G	14: 30,865,375 (GRCm39)	L1814P	probably benign	Het
Stab2	T	C	10: 86,783,008 (GRCm39)	K680R	probably benign	Het
Sympk	T	A	7: 18,780,774 (GRCm39)	L759H	probably benign	Het
Tet1	A	T	10: 62,650,325 (GRCm39)		probably null	Het
Tfpi2	A	T	6: 3,965,460 (GRCm39)	N117K	probably benign	Het
Tle3	A	G	9: 61,323,943 (GRCm39)	Y766C	probably damaging	Het
Trpt1	C	A	19: 6,975,298 (GRCm39)		probably null	Het
Tshz1	A	G	18: 84,034,174 (GRCm39)	F78S	possibly damaging	Het
Ttc1	T	C	11: 43,629,635 (GRCm39)	D177G	probably damaging	Het
Ttc13	T	A	8: 125,401,140 (GRCm39)	Y741F	probably damaging	Het
Ulk3	C	T	9: 57,502,115 (GRCm39)	S462L	probably benign	Het
Utrn	C	T	10: 12,401,077 (GRCm39)		probably benign	Het
V1rd19	A	C	7: 23,703,010 (GRCm39)	T159P	probably damaging	Het
Vars1	T	C	17: 35,230,462 (GRCm39)	V515A	possibly damaging	Het
Vmn1r85	A	G	7: 12,818,515 (GRCm39)	Y210H	probably benign	Het
Vmn2r89	A	G	14: 51,693,435 (GRCm39)	T262A	probably damaging	Het
Vps53	G	A	11: 76,012,405 (GRCm39)	T209I	probably benign	Het
Wdfy2	T	C	14: 63,162,582 (GRCm39)	F95L	possibly damaging	Het
Wwp1	G	T	4: 19,627,911 (GRCm39)	S694Y	probably damaging	Het
Zbtb8b	T	A	4: 129,326,463 (GRCm39)	D201V	probably damaging	Het
Zmym5	A	C	14: 57,041,908 (GRCm39)	N123K	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- ATCTGTGCCTGCACCATCTTAAGTC -3'
(R):5'- AAGCTAAGCCCCACTGTACTCCTG -3'

Sequencing Primer
(F):5'- CACCATCTTAAGTCTGGGGAGTC -3'
(R):5'- CGACAGAGGAGTCACCGTTATTC -3'

Posted On

2013-04-24