Mutagenetix > Incidental Mutation

Incidental Mutation 'R5138:Snw1'

396305

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

042724-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R5138 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87496680-87519069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87507205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 204 (K204E)

Ref Sequence

ENSEMBL: ENSMUSP00000021428 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021428
AA Change: K204E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000021428
Gene: ENSMUSG00000021039
AA Change: K204E

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

0.0758

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	A	9: 46,218,119 (GRCm39)		probably null	Het
Actr10	G	A	12: 71,008,653 (GRCm39)	G362E	probably damaging	Het
Aldh1a3	T	C	7: 66,057,600 (GRCm39)	T278A	probably damaging	Het
Arpp21	T	A	9: 112,008,152 (GRCm39)	K116M	probably damaging	Het
Arrdc3	T	C	13: 81,039,184 (GRCm39)	Y72H	probably damaging	Het
Atr	T	C	9: 95,819,649 (GRCm39)	V2212A	probably benign	Het
Bcdin3d	A	G	15: 99,368,932 (GRCm39)	F89S	possibly damaging	Het
Cacna1d	C	A	14: 30,212,929 (GRCm39)	A44S	probably benign	Het
Cbx3	A	G	6: 51,452,269 (GRCm39)	E28G	probably damaging	Het
Cdh23	A	T	10: 60,148,061 (GRCm39)	F2722L	probably damaging	Het
Clec11a	A	G	7: 43,954,062 (GRCm39)	V297A	probably benign	Het
Clk2	C	A	3: 89,082,806 (GRCm39)		probably benign	Het
Clybl	T	A	14: 122,608,716 (GRCm39)	C103S	possibly damaging	Het
Col12a1	T	A	9: 79,551,248 (GRCm39)	N2123Y	probably damaging	Het
Corin	G	A	5: 72,496,402 (GRCm39)	P517L	probably damaging	Het
Ddhd2	A	T	8: 26,217,726 (GRCm39)	I717N	probably damaging	Het
Derl2	C	A	11: 70,905,390 (GRCm39)	G31*	probably null	Het
Dgcr8	A	G	16: 18,095,941 (GRCm39)	V523A	probably damaging	Het
Dnah8	T	C	17: 30,984,571 (GRCm39)	S3090P	probably damaging	Het
Dsp	C	A	13: 38,367,274 (GRCm39)	H641N	probably benign	Het
Dsp	A	T	13: 38,379,821 (GRCm39)	T1590S	possibly damaging	Het
Duox2	A	T	2: 122,128,012 (GRCm39)	L57Q	probably damaging	Het
Etfdh	A	T	3: 79,530,880 (GRCm39)	V47D	probably benign	Het
Exoc1	T	C	5: 76,715,922 (GRCm39)	Y823H	probably damaging	Het
Fam81a	C	T	9: 70,006,457 (GRCm39)	R185K	probably benign	Het
Fsip2	A	G	2: 82,811,768 (GRCm39)	I2696V	probably benign	Het
Glis1	GCACACA	GCACA	4: 107,480,302 (GRCm39)		probably null	Het
Gtf3c1	A	T	7: 125,246,664 (GRCm39)	N1548K	probably benign	Het
H3c2	G	A	13: 23,936,613 (GRCm39)	R84H	probably damaging	Het
Hkdc1	A	T	10: 62,234,470 (GRCm39)	I575N	probably damaging	Het
Ifi208	A	G	1: 173,518,239 (GRCm39)	I449V	probably null	Het
Ino80	T	C	2: 119,213,902 (GRCm39)	T1223A	probably damaging	Het
Kctd9	T	C	14: 67,966,197 (GRCm39)		probably null	Het
Khdrbs1	A	G	4: 129,635,647 (GRCm39)	Y103H	probably benign	Het
Kmt2e	A	G	5: 23,707,693 (GRCm39)	H1752R	probably damaging	Het
Lrp5	T	A	19: 3,678,319 (GRCm39)	Q512L	probably benign	Het
Map2k5	T	C	9: 63,170,440 (GRCm39)	T293A	probably damaging	Het
Myo7a	C	A	7: 97,732,806 (GRCm39)	R657L	probably damaging	Het
Myrfl	A	G	10: 116,631,963 (GRCm39)		probably null	Het
Nfatc2	G	A	2: 168,378,229 (GRCm39)	H258Y	probably damaging	Het
Nup205	T	A	6: 35,202,801 (GRCm39)	L1336Q	probably damaging	Het
Or10z1	A	G	1: 174,078,395 (GRCm39)	S33P	probably damaging	Het
Or4c113	T	C	2: 88,885,291 (GRCm39)	I160V	probably benign	Het
Or5an10	T	C	19: 12,276,140 (GRCm39)	M119V	possibly damaging	Het
Otog	T	A	7: 45,899,430 (GRCm39)	S244T	possibly damaging	Het
Pcdh17	T	G	14: 84,684,649 (GRCm39)	I372S	probably damaging	Het
Pira13	A	T	7: 3,827,556 (GRCm39)	Y200*	probably null	Het
Plagl1	A	G	10: 13,003,919 (GRCm39)		probably benign	Het
Pnpla7	T	C	2: 24,931,115 (GRCm39)	F910S	possibly damaging	Het
Prdm13	G	A	4: 21,679,507 (GRCm39)	P328S	unknown	Het
Prdm5	C	T	6: 65,833,086 (GRCm39)	Q152*	probably null	Het
Psat1	A	G	19: 15,892,312 (GRCm39)	F216S	possibly damaging	Het
Psg21	A	T	7: 18,390,453 (GRCm39)	M1K	probably null	Het
Rab11fip3	A	T	17: 26,210,000 (GRCm39)	S994T	probably benign	Het
Rax	A	G	18: 66,071,389 (GRCm39)		probably benign	Het
Rgs22	A	T	15: 36,099,934 (GRCm39)	S260R	probably benign	Het
Ryr2	A	T	13: 11,675,175 (GRCm39)	H3317Q	probably damaging	Het
Sc5d	A	G	9: 42,166,811 (GRCm39)	Y243H	probably damaging	Het
Serpinf1	T	C	11: 75,305,854 (GRCm39)	E178G	probably damaging	Het
Slc15a3	A	T	19: 10,833,369 (GRCm39)	Y462F	probably damaging	Het
Slc9b1	G	A	3: 135,063,534 (GRCm39)		probably benign	Het
Slit2	C	T	5: 48,439,309 (GRCm39)	P1111S	probably damaging	Het
Slit3	T	C	11: 35,479,812 (GRCm39)	Y330H	probably damaging	Het
Steap1	A	G	5: 5,786,486 (GRCm39)	I317T	probably damaging	Het
Sval2	A	G	6: 41,838,879 (GRCm39)	N20S	probably damaging	Het
Tfrc	C	A	16: 32,434,027 (GRCm39)	Y85*	probably null	Het
Tmem87a	T	C	2: 120,202,026 (GRCm39)	T412A	possibly damaging	Het
Utp20	T	C	10: 88,583,239 (GRCm39)	K2705E	probably damaging	Het
Vmn1r230	A	T	17: 21,067,230 (GRCm39)	K140*	probably null	Het
Vmn2r62	A	T	7: 42,414,240 (GRCm39)	H734Q	possibly damaging	Het
Zbtb8os	T	A	4: 129,240,719 (GRCm39)		probably benign	Het
Zfp608	A	T	18: 55,024,871 (GRCm39)	H1466Q	probably damaging	Het
Zfp957	C	T	14: 79,450,362 (GRCm39)	C479Y	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
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
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'- GCAACCACTCGACTGTCTATA -3'
(R):5'- TTGGAAGTATGGTCACTTTGGA -3'

Sequencing Primer
(F):5'- ATGGTTCTAAGACACCATGTGGC -3'
(R):5'- GGTCACTTTGGACTGTAGTAAAAGAC -3'

Posted On

2016-06-21