Mutagenetix > Incidental Mutation

Incidental Mutation 'R6747:Snw1'

530608

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

044864-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R6747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87496680-87519069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87511480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 57 (D57G)

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: D57G

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

SMART Domains

Protein: ENSMUSP00000021428
Gene: ENSMUSG00000021039
AA Change: D57G

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	T	3: 121,919,962 (GRCm39)		probably null	Het
Acyp1	C	T	12: 85,325,679 (GRCm39)	V107I	probably null	Het
Aftph	T	C	11: 20,676,144 (GRCm39)		probably null	Het
Agtpbp1	A	T	13: 59,692,167 (GRCm39)		probably null	Het
Arhgap15	C	A	2: 44,006,689 (GRCm39)	P269T	probably damaging	Het
Arhgap30	T	C	1: 171,235,297 (GRCm39)	V557A	probably damaging	Het
Asb3	T	A	11: 31,031,493 (GRCm39)	M410K	probably benign	Het
B4galnt2	T	C	11: 95,759,460 (GRCm39)		probably null	Het
Birc2	A	G	9: 7,860,262 (GRCm39)		probably null	Het
Cav2	A	T	6: 17,286,950 (GRCm39)	N69Y	probably damaging	Het
Cc2d2b	G	A	19: 40,784,111 (GRCm39)	C826Y	probably benign	Het
Cenpf	T	A	1: 189,385,051 (GRCm39)	T2410S	probably benign	Het
Chchd1	A	G	14: 20,753,448 (GRCm39)	D24G	probably benign	Het
Cmip	G	A	8: 118,163,618 (GRCm39)	G450S	probably benign	Het
Col11a1	C	T	3: 114,006,099 (GRCm39)	Q534*	probably null	Het
Col3a1	G	T	1: 45,377,782 (GRCm39)		probably benign	Het
Cox4i1	T	C	8: 121,399,969 (GRCm39)	I31T	possibly damaging	Het
Cstf3	G	T	2: 104,477,112 (GRCm39)	V168F	probably damaging	Het
Dapk1	T	C	13: 60,873,154 (GRCm39)	I352T	probably benign	Het
Ddx52	T	C	11: 83,846,128 (GRCm39)	V456A	probably damaging	Het
Dmxl2	A	T	9: 54,323,372 (GRCm39)	H1337Q	probably damaging	Het
Dnah7a	T	C	1: 53,675,221 (GRCm39)	T369A	probably benign	Het
Dppa1	T	A	11: 46,516,422 (GRCm39)	I8F	unknown	Het
Ebf1	G	T	11: 44,774,641 (GRCm39)	V213F	probably damaging	Het
Foxb2	C	A	19: 16,850,197 (GRCm39)	E270*	probably null	Het
Gclc	A	T	9: 77,695,527 (GRCm39)	R450W	probably damaging	Het
Grin2d	T	C	7: 45,511,692 (GRCm39)	E251G	probably damaging	Het
Hal	A	T	10: 93,336,539 (GRCm39)	N423Y	probably damaging	Het
Krtap4-8	T	A	11: 99,670,917 (GRCm39)	I185F	unknown	Het
Lrp3	T	A	7: 34,910,862 (GRCm39)	Q61L	probably benign	Het
Met	A	C	6: 17,571,466 (GRCm39)	Q1296H	probably damaging	Het
Mphosph9	T	A	5: 124,435,762 (GRCm39)	N557I	possibly damaging	Het
Mrpl46	C	A	7: 78,432,729 (GRCm39)	W16C	probably benign	Het
Myh13	G	A	11: 67,241,245 (GRCm39)	R874Q	probably damaging	Het
Nelfb	G	A	2: 25,093,393 (GRCm39)	T453I	probably benign	Het
Nos2	A	G	11: 78,843,780 (GRCm39)	D909G	probably damaging	Het
Nr5a2	T	C	1: 136,810,082 (GRCm39)	E431G	possibly damaging	Het
Nsmce2	A	G	15: 59,463,573 (GRCm39)	D149G	probably benign	Het
Or52b1	C	T	7: 104,979,234 (GRCm39)	R55H	probably benign	Het
Or5ac21	T	C	16: 59,124,004 (GRCm39)	F164L	probably benign	Het
Pcbp4	C	A	9: 106,337,847 (GRCm39)		probably null	Het
Peg10	A	G	6: 4,757,137 (GRCm39)		probably benign	Het
Pms2	C	T	5: 143,862,237 (GRCm39)	P154L	probably benign	Het
Pou6f2	A	C	13: 18,303,772 (GRCm39)	L112R	probably benign	Het
Pramel30	T	C	4: 144,059,548 (GRCm39)	W420R	probably benign	Het
Prdm6	A	T	18: 53,598,118 (GRCm39)		probably benign	Het
Prob1	G	A	18: 35,788,207 (GRCm39)	R12W	probably damaging	Het
Rif1	T	A	2: 51,968,275 (GRCm39)		probably null	Het
Rpl9-ps6	A	G	19: 32,443,543 (GRCm39)	S137P	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Sec23ip	A	G	7: 128,354,573 (GRCm39)		silent	Het
Slc38a9	T	C	13: 112,826,714 (GRCm39)	C151R	probably benign	Het
Slc39a8	T	C	3: 135,554,941 (GRCm39)		probably null	Het
Slc6a18	C	A	13: 73,826,110 (GRCm39)		probably benign	Het
Sox6	C	G	7: 115,140,966 (GRCm39)	R505P	probably damaging	Het
Speg	T	C	1: 75,387,039 (GRCm39)		probably null	Het
Spire2	C	T	8: 124,083,585 (GRCm39)	R190C	probably damaging	Het
Stard9	A	C	2: 120,528,864 (GRCm39)	H1707P	possibly damaging	Het
Tenm3	G	T	8: 48,796,278 (GRCm39)	T237K	probably damaging	Het
Themis2	T	A	4: 132,523,573 (GRCm39)	E31V	possibly damaging	Het
Trim56	T	G	5: 137,143,375 (GRCm39)	Q47P	probably damaging	Het
Trim58	T	C	11: 58,542,090 (GRCm39)	I350T	probably benign	Het
Ttll7	C	T	3: 146,649,811 (GRCm39)	P639S	probably benign	Het
Ubxn6	A	G	17: 56,377,650 (GRCm39)		probably null	Het
Vmn2r114	A	T	17: 23,528,850 (GRCm39)	F417L	probably benign	Het
Vmn2r29	T	A	7: 7,234,421 (GRCm39)	M822L	probably benign	Het
Vps9d1	T	C	8: 123,980,746 (GRCm39)	D27G	probably damaging	Het
Wdr3	C	T	3: 100,046,040 (GRCm39)	R931Q	probably damaging	Het
Whamm	G	A	7: 81,228,050 (GRCm39)		probably null	Het
Zcchc24	T	C	14: 25,757,457 (GRCm39)	H142R	probably damaging	Het
Zfp292	T	C	4: 34,806,894 (GRCm39)	K2050R	probably damaging	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
R6239:Snw1	UTSW	12	87,511,398 (GRCm39)	missense	probably damaging	1.00
R6552:Snw1	UTSW	12	87,506,189 (GRCm39)	critical splice donor site	probably null
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'- AAGTGGCTTATCATTTCCCCAC -3'
(R):5'- CATGGTGCTTCCTACACTCG -3'

Sequencing Primer
(F):5'- GCAAAACCAATGAGAGATTACCTTG -3'
(R):5'- ACACTCGGTCTGGTTTACACACTG -3'

Posted On

2018-08-01