Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02826:Stil'

361198

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stil

Ensembl Gene

ENSMUSG00000028718

Gene Name

Scl/Tal1 interrupting locus

Synonyms

Sil

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02826

Quality Score

Status

Chromosome

Chromosomal Location

115000159-115043196 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115024098 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 613 (D613G)

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: D613G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000030490
Gene: ENSMUSG00000028718
AA Change: D613G

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	C	16: 90,926,062	D261E	probably benign	Het
1810041L15Rik	A	G	15: 84,420,129		probably benign	Het
4930404N11Rik	A	G	10: 81,364,736		probably benign	Het
A3galt2	T	C	4: 128,761,509		probably benign	Het
Alk	C	T	17: 71,869,536	G1591D	probably damaging	Het
Angptl2	T	C	2: 33,228,315	S34P	probably benign	Het
Atp2a2	A	G	5: 122,489,291	V137A	probably benign	Het
Atp8b5	A	G	4: 43,366,770	M845V	probably damaging	Het
Camk1d	A	G	2: 5,565,760	V30A	possibly damaging	Het
Ceacam19	G	A	7: 19,882,610	T193I	probably benign	Het
Chst15	T	A	7: 132,266,746	D315V	probably damaging	Het
Cux1	G	T	5: 136,308,003	P885Q	probably damaging	Het
Cyth1	C	T	11: 118,185,481	E88K	possibly damaging	Het
Dido1	A	G	2: 180,683,958	V479A	probably benign	Het
Dlc1	G	T	8: 36,570,275		probably benign	Het
H2-Ab1	G	A	17: 34,264,911	R82Q	probably damaging	Het
Hps6	T	A	19: 46,006,041	*806K	probably null	Het
Ilf3	T	C	9: 21,398,044	S486P	probably benign	Het
Kdm1b	C	A	13: 47,080,467	T759K	probably damaging	Het
Kirrel	C	A	3: 87,088,485	V381F	probably damaging	Het
Kmt2b	A	T	7: 30,577,144	V1701E	probably damaging	Het
Lrmda	T	C	14: 22,828,737	Y100H	probably damaging	Het
Mastl	T	C	2: 23,145,409	I169V	probably damaging	Het
Mroh2b	A	G	15: 4,962,148	E1576G	probably damaging	Het
Nek3	A	T	8: 22,160,368		probably null	Het
Nipal3	G	T	4: 135,468,550	Y247*	probably null	Het
Nt5e	A	C	9: 88,355,705	K229N	probably damaging	Het
Olfr237-ps1	A	G	6: 43,153,577	I91V	possibly damaging	Het
Olfr974	G	T	9: 39,942,958	G233C	probably damaging	Het
Opa1	A	G	16: 29,610,887	M290V	probably null	Het
Parp2	T	A	14: 50,815,415	I155K	probably benign	Het
Pde4dip	G	T	3: 97,767,087	A171E	probably damaging	Het
Prom2	C	T	2: 127,531,116	E678K	probably benign	Het
Rab12	A	G	17: 66,498,116		probably benign	Het
Rgs8	A	T	1: 153,670,799	T13S	probably damaging	Het
Setd3	A	G	12: 108,112,124		probably benign	Het
Slx4ip	G	A	2: 137,004,973	V53I	probably damaging	Het
Tjp3	T	A	10: 81,273,689	S858C	probably damaging	Het
Tmem215	A	G	4: 40,474,632	*236W	probably null	Het
Ttbk1	A	G	17: 46,470,660	V389A	probably benign	Het
Wdfy4	A	G	14: 32,971,750	F2706S	possibly damaging	Het
Xpo4	C	A	14: 57,629,420	V222L	possibly damaging	Het
Zfc3h1	A	G	10: 115,400,904	S428G	probably benign	Het
Zfp286	T	C	11: 62,787,960	Q47R	probably damaging	Het
Zfp318	A	G	17: 46,398,754	K468E	probably damaging	Het

Other mutations in Stil

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Stil	APN	4	115024112	missense	probably benign	0.29
IGL01672:Stil	APN	4	115032789	missense	probably damaging	1.00
IGL02058:Stil	APN	4	115014162	missense	probably benign	0.00
IGL02076:Stil	APN	4	115023637	missense	probably benign	0.03
IGL02104:Stil	APN	4	115041482	missense	probably damaging	1.00
IGL02355:Stil	APN	4	115010111	missense	probably damaging	1.00
IGL02362:Stil	APN	4	115010111	missense	probably damaging	1.00
IGL02612:Stil	APN	4	115023696	missense	possibly damaging	0.80
IGL02695:Stil	APN	4	115016175	missense	probably damaging	1.00
IGL02696:Stil	APN	4	115041495	missense	probably damaging	0.99
IGL02946:Stil	APN	4	115029913	missense	probably benign	0.05
IGL03146:Stil	APN	4	115024415	missense	probably damaging	1.00
BB005:Stil	UTSW	4	115030001	missense	probably damaging	0.98
BB015:Stil	UTSW	4	115030001	missense	probably damaging	0.98
R0058:Stil	UTSW	4	115041298	missense	probably damaging	1.00
R0256:Stil	UTSW	4	115023685	missense	possibly damaging	0.80
R0324:Stil	UTSW	4	115039149	missense	probably benign	0.01
R0391:Stil	UTSW	4	115041172	critical splice acceptor site	probably null
R0602:Stil	UTSW	4	115024423	splice site	probably benign
R0620:Stil	UTSW	4	115007159	missense	possibly damaging	0.52
R1452:Stil	UTSW	4	115039195	missense	probably benign	0.00
R1462:Stil	UTSW	4	115023964	missense	probably benign	0.00
R1462:Stil	UTSW	4	115023964	missense	probably benign	0.00
R1544:Stil	UTSW	4	115023852	missense	probably damaging	0.97
R1789:Stil	UTSW	4	115041782	missense	probably benign	0.01
R1878:Stil	UTSW	4	115041226	missense	probably damaging	1.00
R1895:Stil	UTSW	4	115023875	missense	probably benign	0.40
R2325:Stil	UTSW	4	115032707	missense	probably benign	0.12
R2401:Stil	UTSW	4	115016286	missense	probably null	0.81
R3054:Stil	UTSW	4	115004966	missense	probably damaging	1.00
R3055:Stil	UTSW	4	115014069	splice site	probably benign
R4097:Stil	UTSW	4	115023600	missense	probably benign	0.04
R4330:Stil	UTSW	4	115004979	missense	probably damaging	1.00
R4418:Stil	UTSW	4	115009377	missense	probably benign	0.17
R4665:Stil	UTSW	4	115041644	missense	probably benign	0.00
R4688:Stil	UTSW	4	115041308	missense	probably damaging	1.00
R4740:Stil	UTSW	4	115006782	missense	probably benign	0.15
R4860:Stil	UTSW	4	115038474	missense	probably benign	0.01
R4860:Stil	UTSW	4	115038474	missense	probably benign	0.01
R4909:Stil	UTSW	4	115024225	nonsense	probably null
R6130:Stil	UTSW	4	115029861	splice site	probably null
R6523:Stil	UTSW	4	115032714	frame shift	probably null
R7294:Stil	UTSW	4	115007283	missense	probably benign	0.17
R7357:Stil	UTSW	4	115014226	critical splice donor site	probably null
R7387:Stil	UTSW	4	115024036	missense	probably benign	0.37
R7592:Stil	UTSW	4	115023808	missense	probably benign	0.00
R7776:Stil	UTSW	4	115032838	missense	possibly damaging	0.49
R7908:Stil	UTSW	4	115032699	missense	possibly damaging	0.68
R7928:Stil	UTSW	4	115030001	missense	probably damaging	0.98
R9064:Stil	UTSW	4	115041735	missense	probably benign	0.00
R9140:Stil	UTSW	4	115007252	missense	probably damaging	1.00
R9500:Stil	UTSW	4	115021519	missense	possibly damaging	0.93
Z1088:Stil	UTSW	4	115006693	missense	probably damaging	1.00
Z1177:Stil	UTSW	4	115041379	missense	probably damaging	0.99

Posted On

2015-12-18