Mutagenetix > Incidental Mutation

Incidental Mutation 'R4865:Skil'

374808

Institutional Source

Beutler Lab

Gene Symbol

Skil

Ensembl Gene

ENSMUSG00000027660

Gene Name

SKI-like

Synonyms

9130011J04Rik, sno-dE3, SnoN, Skir, SnoN2

MMRRC Submission

042475-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31149259-31176741 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31167562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 398 (Y398C)

Ref Sequence

ENSEMBL: ENSMUSP00000113256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029194] [ENSMUST00000117728] [ENSMUST00000118204] [ENSMUST00000118470]

AlphaFold

Q60665

Predicted Effect

probably damaging
Transcript: ENSMUST00000029194
AA Change: Y398C

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

SMART Domains

Protein: ENSMUSP00000029194
Gene: ENSMUSG00000027660
AA Change: Y398C

Domain	Start	End	E-Value	Type
Pfam:Ski_Sno	121	233	2e-46	PFAM
c-SKI_SMAD_bind	258	353	6.01e-64	SMART
low complexity region	419	437	N/A	INTRINSIC
coiled coil region	526	670	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117728
AA Change: Y318C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113054
Gene: ENSMUSG00000027660
AA Change: Y318C

Domain	Start	End	E-Value	Type
Pfam:Ski_Sno	41	153	1.5e-45	PFAM
c-SKI_SMAD_bind	178	273	6.01e-64	SMART
low complexity region	347	357	N/A	INTRINSIC
coiled coil region	400	544	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118204
AA Change: Y398C

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

SMART Domains

Protein: ENSMUSP00000112413
Gene: ENSMUSG00000027660
AA Change: Y398C

Domain	Start	End	E-Value	Type
Pfam:Ski_Sno	125	232	2.7e-46	PFAM
c-SKI_SMAD_bind	258	353	6.01e-64	SMART
low complexity region	419	437	N/A	INTRINSIC
coiled coil region	526	670	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118470
AA Change: Y398C

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

SMART Domains

Protein: ENSMUSP00000113256
Gene: ENSMUSG00000027660
AA Change: Y398C

Domain	Start	End	E-Value	Type
Pfam:Ski_Sno	121	233	2e-46	PFAM
c-SKI_SMAD_bind	258	353	6.01e-64	SMART
low complexity region	427	437	N/A	INTRINSIC
SCOP:d1eq1a_	508	625	5e-3	SMART

Meta Mutation Damage Score

0.6401

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

98% (86/88)

MGI Phenotype

FUNCTION: This gene encodes a member of a small family of proteins that play a key role in the response of cells to extracellular growth signals. The encoded protein regulates members of the transforming growth factor beta signaling pathway. It is highly expressed in certain cancer cells, where it may have both tumor-suppressing and tumor-promoting roles. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Heterozygotes for a null allele develop lymphomas and show increased incidence of chemically-induced tumors while homozygotes die before implantation. Homozygotes for a different null allele are viable but show defective T cell activation and impaired mammary gland alveologenesis and lactogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	C	T	18: 61,938,157 (GRCm39)	V639M	probably damaging	Het
Adgrf4	A	G	17: 42,978,156 (GRCm39)	S396P	probably damaging	Het
Aldh3b2	T	A	19: 4,028,469 (GRCm39)	I123N	probably damaging	Het
Aldh5a1	A	G	13: 25,095,567 (GRCm39)	Y517H	probably damaging	Het
Aph1c	A	C	9: 66,735,120 (GRCm39)	I77S	probably damaging	Het
Armc8	A	G	9: 99,408,942 (GRCm39)		probably null	Het
Atp13a5	G	A	16: 29,066,912 (GRCm39)	P1020L	probably damaging	Het
BC024139	A	T	15: 76,010,266 (GRCm39)	M80K	possibly damaging	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cenpn	A	G	8: 117,661,512 (GRCm39)	I204V	probably damaging	Het
Ces4a	A	T	8: 105,873,790 (GRCm39)	M420L	probably benign	Het
Chdh	T	A	14: 29,755,681 (GRCm39)	D322E	probably benign	Het
Clcn6	A	T	4: 148,104,223 (GRCm39)	I223N	probably damaging	Het
Clec4b1	A	G	6: 123,045,428 (GRCm39)	K50E	possibly damaging	Het
Creg1	T	A	1: 165,597,432 (GRCm39)	C135*	probably null	Het
Cyp4f13	C	T	17: 33,144,678 (GRCm39)	R411Q	probably damaging	Het
Dnah7b	T	C	1: 46,234,234 (GRCm39)	F1426L	probably damaging	Het
Dock9	A	T	14: 121,780,917 (GRCm39)	*1917R	probably null	Het
Dync1h1	T	G	12: 110,606,235 (GRCm39)	L2435R	possibly damaging	Het
Eif3l	C	A	15: 78,965,849 (GRCm39)	Y166*	probably null	Het
Emilin1	T	A	5: 31,075,128 (GRCm39)	N456K	possibly damaging	Het
Fam83f	C	T	15: 80,576,650 (GRCm39)	R434C	probably damaging	Het
Fbxw9	A	G	8: 85,786,785 (GRCm39)	D10G	possibly damaging	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fsip2	T	G	2: 82,821,295 (GRCm39)	V5676G	possibly damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm11596	A	G	11: 99,684,064 (GRCm39)		probably benign	Het
Gm6522	T	C	3: 106,183,286 (GRCm39)		noncoding transcript	Het
Gm6728	A	G	6: 136,464,072 (GRCm39)		noncoding transcript	Het
Gria4	T	A	9: 4,464,295 (GRCm39)	I556F	possibly damaging	Het
Grp	A	T	18: 66,013,041 (GRCm39)	D69V	probably damaging	Het
Gucy1a1	G	T	3: 82,026,469 (GRCm39)		probably benign	Het
Haus5	A	T	7: 30,357,980 (GRCm39)	L376Q	probably damaging	Het
Ifne	A	T	4: 88,797,942 (GRCm39)	Y159N	probably damaging	Het
Ift80	A	G	3: 68,898,092 (GRCm39)	V81A	probably benign	Het
Inpp5b	T	C	4: 124,645,288 (GRCm39)	V192A	probably benign	Het
Kcnh4	A	G	11: 100,640,569 (GRCm39)	S486P	probably damaging	Het
Kif5b	A	G	18: 6,222,912 (GRCm39)		probably benign	Het
Macf1	T	A	4: 123,327,096 (GRCm39)	E4800D	probably damaging	Het
Mblac2	C	T	13: 81,860,095 (GRCm39)	Q150*	probably null	Het
Mc1r	A	T	8: 124,134,255 (GRCm39)	T3S	probably benign	Het
Med17	G	A	9: 15,176,668 (GRCm39)	Q70*	probably null	Het
Myocd	A	T	11: 65,069,856 (GRCm39)		probably null	Het
Nphp3	T	C	9: 103,909,169 (GRCm39)	L793P	probably benign	Het
Or1ad1	A	G	11: 50,876,370 (GRCm39)	T281A	probably damaging	Het
Or2m13	A	T	16: 19,226,051 (GRCm39)	F238L	probably damaging	Het
Or4a68	T	G	2: 89,270,003 (GRCm39)	T207P	possibly damaging	Het
Or5an10	T	C	19: 12,275,944 (GRCm39)	D184G	probably damaging	Het
Or5ap2	T	A	2: 85,680,060 (GRCm39)	M88K	probably damaging	Het
Or8c13	T	A	9: 38,091,196 (GRCm39)	T308S	possibly damaging	Het
Piezo1	A	T	8: 123,213,660 (GRCm39)	L1745Q	probably damaging	Het
Prdm10	T	A	9: 31,258,376 (GRCm39)	H600Q	probably damaging	Het
Psapl1	C	A	5: 36,362,211 (GRCm39)	L268M	probably damaging	Het
Psg23	T	C	7: 18,346,039 (GRCm39)	I219V	probably benign	Het
Rexo5	A	T	7: 119,400,553 (GRCm39)	R113*	probably null	Het
Rgs22	A	T	15: 36,100,358 (GRCm39)	I243N	probably damaging	Het
Rhbdf1	G	A	11: 32,164,517 (GRCm39)	T183I	probably damaging	Het
Rhobtb1	T	C	10: 69,106,554 (GRCm39)	M373T	probably benign	Het
Ros1	G	T	10: 52,048,966 (GRCm39)	A88E	probably damaging	Het
Sdr16c6	A	G	4: 4,058,834 (GRCm39)	F251L	probably benign	Het
Slc22a3	A	T	17: 12,683,419 (GRCm39)	M148K	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Sntn	A	T	14: 13,679,103 (GRCm38)	K92N	probably benign	Het
Spry4	A	T	18: 38,722,876 (GRCm39)	S296T	probably benign	Het
St8sia1	A	G	6: 142,774,796 (GRCm39)	F261S	probably damaging	Het
Stab2	C	T	10: 86,679,364 (GRCm39)		probably null	Het
Stk24	A	T	14: 121,530,866 (GRCm39)	C363*	probably null	Het
Tank	G	A	2: 61,408,979 (GRCm39)		probably benign	Het
Tmem67	T	C	4: 12,070,262 (GRCm39)	N387S	probably benign	Het
Treml1	A	T	17: 48,673,885 (GRCm39)	I304L	probably benign	Het
Trim13	A	G	14: 61,842,966 (GRCm39)	I328V	probably benign	Het
Upk2	A	G	9: 44,365,382 (GRCm39)	V62A	probably damaging	Het
Urb2	A	T	8: 124,756,374 (GRCm39)	K694*	probably null	Het
Vmn2r17	C	A	5: 109,574,985 (GRCm39)	N97K	probably damaging	Het
Vmn2r57	A	T	7: 41,049,892 (GRCm39)	V619D	probably damaging	Het
Vmn2r92	G	A	17: 18,387,634 (GRCm39)	R213Q	probably benign	Het
Wnt6	G	A	1: 74,821,788 (GRCm39)	C123Y	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm39)	I253T	probably damaging	Het
Zfp52	C	T	17: 21,781,505 (GRCm39)	S451L	probably damaging	Het

Other mutations in Skil

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01940:Skil	APN	3	31,165,793 (GRCm39)	missense	probably benign	0.01
IGL02149:Skil	APN	3	31,151,856 (GRCm39)	missense	possibly damaging	0.47
IGL02388:Skil	APN	3	31,165,787 (GRCm39)	nonsense	probably null
IGL02478:Skil	APN	3	31,151,968 (GRCm39)	nonsense	probably null
IGL02723:Skil	APN	3	31,171,673 (GRCm39)	missense	probably damaging	1.00
PIT4243001:Skil	UTSW	3	31,167,714 (GRCm39)	missense	probably damaging	0.98
PIT4466001:Skil	UTSW	3	31,152,381 (GRCm39)	missense	probably damaging	1.00
PIT4472001:Skil	UTSW	3	31,152,381 (GRCm39)	missense	probably damaging	1.00
R1809:Skil	UTSW	3	31,171,655 (GRCm39)	missense	probably damaging	0.99
R3124:Skil	UTSW	3	31,151,487 (GRCm39)	missense	probably benign	0.03
R3750:Skil	UTSW	3	31,170,983 (GRCm39)	missense	probably benign	0.00
R5213:Skil	UTSW	3	31,171,600 (GRCm39)	missense	probably damaging	0.99
R5328:Skil	UTSW	3	31,171,718 (GRCm39)	missense	probably benign	0.00
R5357:Skil	UTSW	3	31,167,700 (GRCm39)	missense	probably benign
R5428:Skil	UTSW	3	31,151,647 (GRCm39)	missense	probably benign
R6153:Skil	UTSW	3	31,152,002 (GRCm39)	missense	probably damaging	1.00
R6613:Skil	UTSW	3	31,152,029 (GRCm39)	missense	probably null	1.00
R7270:Skil	UTSW	3	31,151,324 (GRCm39)	intron	probably benign
R7999:Skil	UTSW	3	31,151,751 (GRCm39)	missense	possibly damaging	0.90
R8350:Skil	UTSW	3	31,151,603 (GRCm39)	missense	probably benign	0.13
R8758:Skil	UTSW	3	31,172,686 (GRCm39)	missense	probably damaging	1.00
R8802:Skil	UTSW	3	31,167,592 (GRCm39)	missense	probably damaging	1.00
R8873:Skil	UTSW	3	31,152,075 (GRCm39)	missense	probably damaging	1.00
R8961:Skil	UTSW	3	31,167,729 (GRCm39)	missense	probably benign	0.02
R9526:Skil	UTSW	3	31,171,639 (GRCm39)	missense	probably benign	0.09
R9712:Skil	UTSW	3	31,171,009 (GRCm39)	missense	probably benign
R9755:Skil	UTSW	3	31,151,544 (GRCm39)	missense	probably benign
Z1176:Skil	UTSW	3	31,151,675 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- GGGGAAGAGACTCACTTTTGC -3'
(R):5'- TCAAGTGAGACGTCTGGGTAAG -3'

Sequencing Primer
(F):5'- AAAAATCCCTCAGTTTTACTGTCC -3'
(R):5'- GGACTTACTTGTCTCTGCC -3'

Posted On

2016-03-17