Mutagenetix > Incidental Mutation

Incidental Mutation 'R6239:Snw1'

505136

Institutional Source

Beutler Lab

Gene Symbol

Snw1

Ensembl Gene

ENSMUSG00000021039

Gene Name

SNW domain containing 1

Synonyms

SNW1, Skiip, 2310008B08Rik, NCoA-62, SKIP

MMRRC Submission

044363-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R6239 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87496680-87519069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87511398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 84 (N84K)

Ref Sequence

ENSEMBL: ENSMUSP00000021428 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021428]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000021428
AA Change: N84K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021428
Gene: ENSMUSG00000021039
AA Change: N84K

Domain	Start	End	E-Value	Type
Pfam:SKIP_SNW	175	335	2e-78	PFAM
low complexity region	524	536	N/A	INTRINSIC

Meta Mutation Damage Score

0.1888

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, a member of the SNW gene family, encodes a coactivator that enhances transcription from some Pol II promoters. This coactivator can bind to the ligand-binding domain of the vitamin D receptor and to retinoid receptors to enhance vitamin D-, retinoic acid-, estrogen-, and glucocorticoid-mediated gene expression. It can also function as a splicing factor by interacting with poly(A)-binding protein 2 to directly control the expression of muscle-specific genes at the transcriptional level. Finally, the protein may be involved in oncogenesis since it interacts with a region of SKI oncoproteins that is required for transforming activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	T	A	1: 78,674,182 (GRCm39)	S373T	probably benign	Het
Aox1	G	A	1: 58,344,550 (GRCm39)		probably null	Het
Apol7c	T	C	15: 77,410,631 (GRCm39)	E105G	probably benign	Het
B4galnt2	C	T	11: 95,767,065 (GRCm39)	A184T	probably damaging	Het
Castor1	A	G	11: 4,168,967 (GRCm39)	T45A	possibly damaging	Het
Casz1	A	G	4: 149,022,734 (GRCm39)	Q600R	probably damaging	Het
Cep152	A	T	2: 125,421,332 (GRCm39)	S1133T	probably benign	Het
Cep295	T	C	9: 15,233,927 (GRCm39)	I2290V	possibly damaging	Het
Clmn	A	T	12: 104,747,104 (GRCm39)	H814Q	probably benign	Het
Creb3l1	A	G	2: 91,825,748 (GRCm39)	C124R	probably damaging	Het
Cspg4	A	G	9: 56,795,466 (GRCm39)	D1067G	probably benign	Het
Cyp1a1	T	A	9: 57,609,361 (GRCm39)	V354E	probably benign	Het
Cyp2t4	A	T	7: 26,856,900 (GRCm39)	Q280L	possibly damaging	Het
Dcaf6	A	T	1: 165,178,839 (GRCm39)	D563E	possibly damaging	Het
Dennd2a	A	G	6: 39,465,750 (GRCm39)	F607L	probably damaging	Het
Dennd2d	T	A	3: 106,402,193 (GRCm39)	F288I	probably damaging	Het
Dnah8	C	T	17: 31,029,333 (GRCm39)	R4101C	probably damaging	Het
Dnai4	A	C	4: 102,923,640 (GRCm39)	N396K	probably benign	Het
Dnase2a	G	T	8: 85,635,508 (GRCm39)		probably null	Het
Dnmbp	C	T	19: 43,836,624 (GRCm39)	V1235I	probably benign	Het
Eml6	T	C	11: 29,699,275 (GRCm39)	D1826G	probably damaging	Het
Fam186b	T	C	15: 99,178,315 (GRCm39)	Y337C	probably benign	Het
Flg2	A	T	3: 93,108,579 (GRCm39)	E202D	probably benign	Het
Fus	C	T	7: 127,580,606 (GRCm39)	R228C	possibly damaging	Het
Gbf1	A	G	19: 46,248,135 (GRCm39)	E304G	probably benign	Het
Ggt1	A	G	10: 75,421,515 (GRCm39)		probably null	Het
Gm19410	A	T	8: 36,245,918 (GRCm39)	D354V	probably damaging	Het
Hdac4	T	C	1: 91,982,694 (GRCm39)	D8G	probably benign	Het
Hhat	A	T	1: 192,277,395 (GRCm39)	Y355N	probably damaging	Het
Ift140	T	C	17: 25,247,946 (GRCm39)	V268A	probably benign	Het
Il4i1	A	G	7: 44,489,836 (GRCm39)	R542G	probably benign	Het
Itga2b	C	T	11: 102,356,144 (GRCm39)	V328I	possibly damaging	Het
Kmt2a	T	C	9: 44,731,093 (GRCm39)		probably benign	Het
Lrit3	A	T	3: 129,593,995 (GRCm39)	I194N	probably damaging	Het
Mast4	A	G	13: 102,872,717 (GRCm39)	L2025P	probably benign	Het
Neb	T	C	2: 52,164,000 (GRCm39)	N1986S	probably benign	Het
Osbpl7	G	A	11: 96,943,650 (GRCm39)		probably null	Het
Pabpc2	T	A	18: 39,906,891 (GRCm39)	L52Q	probably damaging	Het
Pald1	T	C	10: 61,156,910 (GRCm39)	S847G	possibly damaging	Het
Pcdh12	T	C	18: 38,415,454 (GRCm39)	D557G	probably damaging	Het
Prmt2	A	T	10: 76,058,425 (GRCm39)	L128*	probably null	Het
Ptpn3	C	A	4: 57,249,981 (GRCm39)	A172S	probably benign	Het
Ptpro	A	T	6: 137,357,606 (GRCm39)	T366S	probably benign	Het
Reg4	A	G	3: 98,138,600 (GRCm39)	K100R	probably null	Het
Rims2	A	T	15: 39,061,758 (GRCm39)	M1L	unknown	Het
Sele	A	G	1: 163,878,377 (GRCm39)	S239G	probably damaging	Het
Slc11a1	G	A	1: 74,423,274 (GRCm39)	R375Q	possibly damaging	Het
Slc13a3	T	C	2: 165,248,617 (GRCm39)	T554A	unknown	Het
Stpg4	T	C	17: 87,718,667 (GRCm39)	Y171C	probably benign	Het
Styxl2	A	T	1: 165,926,388 (GRCm39)	S1075T	probably damaging	Het
Tmem222	T	A	4: 132,995,606 (GRCm39)	H147L	probably damaging	Het
Tmprss11f	G	T	5: 86,681,636 (GRCm39)	R206S	probably damaging	Het
Trappc11	G	A	8: 47,982,529 (GRCm39)	T70M	possibly damaging	Het
Trpv4	G	A	5: 114,782,887 (GRCm39)	T25I	probably benign	Het
Ttr	T	C	18: 20,806,692 (GRCm39)	V114A	possibly damaging	Het
Umod	C	T	7: 119,076,520 (GRCm39)	C82Y	probably damaging	Het
Upk3a	T	A	15: 84,905,515 (GRCm39)	M208K	probably damaging	Het
Vmn1r59	G	A	7: 5,457,539 (GRCm39)	P74S	probably damaging	Het
Vwa3a	A	T	7: 120,393,457 (GRCm39)	R851S	probably benign	Het
Zfp236	G	T	18: 82,675,229 (GRCm39)	T421K	possibly damaging	Het
Zswim9	C	A	7: 12,995,257 (GRCm39)	G300*	probably null	Het

Other mutations in Snw1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Snw1	APN	12	87,499,350 (GRCm39)	critical splice donor site	probably null
IGL00559:Snw1	APN	12	87,515,501 (GRCm39)	missense	probably damaging	0.98
IGL00561:Snw1	APN	12	87,497,574 (GRCm39)	critical splice donor site	probably null
IGL01019:Snw1	APN	12	87,497,711 (GRCm39)	missense	probably benign	0.24
IGL01304:Snw1	APN	12	87,500,685 (GRCm39)	missense	possibly damaging	0.71
IGL01918:Snw1	APN	12	87,502,438 (GRCm39)	missense	probably benign	0.14
IGL03170:Snw1	APN	12	87,519,022 (GRCm39)	missense	probably benign	0.00
R0149:Snw1	UTSW	12	87,508,687 (GRCm39)	missense	possibly damaging	0.51
R1760:Snw1	UTSW	12	87,511,459 (GRCm39)	missense	probably benign	0.06
R1935:Snw1	UTSW	12	87,506,247 (GRCm39)	missense	probably damaging	1.00
R2130:Snw1	UTSW	12	87,499,473 (GRCm39)	unclassified	probably benign
R2230:Snw1	UTSW	12	87,499,428 (GRCm39)	missense	probably benign	0.00
R2496:Snw1	UTSW	12	87,497,589 (GRCm39)	missense	probably benign
R4907:Snw1	UTSW	12	87,506,259 (GRCm39)	missense	probably benign	0.19
R4926:Snw1	UTSW	12	87,499,428 (GRCm39)	missense	probably benign	0.00
R5138:Snw1	UTSW	12	87,507,205 (GRCm39)	missense	probably benign	0.00
R5447:Snw1	UTSW	12	87,502,485 (GRCm39)	missense	probably benign	0.19
R6552:Snw1	UTSW	12	87,506,189 (GRCm39)	critical splice donor site	probably null
R6747:Snw1	UTSW	12	87,511,480 (GRCm39)	missense	probably damaging	1.00
R7230:Snw1	UTSW	12	87,511,324 (GRCm39)	missense	probably damaging	1.00
R7242:Snw1	UTSW	12	87,515,415 (GRCm39)	missense	possibly damaging	0.94
R8184:Snw1	UTSW	12	87,500,673 (GRCm39)	missense	probably benign	0.01
R9297:Snw1	UTSW	12	87,505,674 (GRCm39)	missense	probably damaging	1.00
R9318:Snw1	UTSW	12	87,505,674 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAGTCCACAATGGCAAGTG -3'
(R):5'- GCCCACTAACTGCACAGATG -3'

Sequencing Primer
(F):5'- CACAATGGCAAGTGGCTTATC -3'
(R):5'- CAGATGAAAACCTTGCTGCTG -3'

Posted On

2018-02-28