Mutagenetix > Incidental Mutation

Incidental Mutation 'R9526:Skil'

719201

Institutional Source

Beutler Lab

Gene Symbol

Skil

Ensembl Gene

ENSMUSG00000027660

Gene Name

SKI-like

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9526 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31149259-31176741 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31171639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 542 (Y542N)

Ref Sequence

ENSEMBL: ENSMUSP00000113256 (fasta)

Gene Model

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

AlphaFold

Q60665

Predicted Effect

probably benign
Transcript: ENSMUST00000029194
AA Change: Y588N

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029194
Gene: ENSMUSG00000027660
AA Change: Y588N

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 benign
Transcript: ENSMUST00000117728
AA Change: Y462N

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113054
Gene: ENSMUSG00000027660
AA Change: Y462N

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 benign
Transcript: ENSMUST00000118204
AA Change: Y588N

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112413
Gene: ENSMUSG00000027660
AA Change: Y588N

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 benign
Transcript: ENSMUST00000118470
AA Change: Y542N

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113256
Gene: ENSMUSG00000027660
AA Change: Y542N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,230,393 (GRCm39)	L287S	probably damaging	Het
Adgrf1	A	T	17: 43,616,237 (GRCm39)	Q292L	possibly damaging	Het
Arhgap32	A	G	9: 32,172,026 (GRCm39)	D1602G	probably benign	Het
Atrnl1	C	T	19: 57,617,551 (GRCm39)	P109S	probably damaging	Het
Camsap1	G	A	2: 25,843,962 (GRCm39)	H230Y	probably benign	Het
Capns1	C	T	7: 29,891,612 (GRCm39)	C144Y	probably damaging	Het
Ccdc17	G	A	4: 116,455,994 (GRCm39)	V341I	possibly damaging	Het
Cd36	T	C	5: 18,002,033 (GRCm39)	T323A	probably damaging	Het
Cdc14a	CGCTGCTGCTGCTGCTGCTG	CGCTGCTGCTGCTGCTG	3: 116,087,509 (GRCm39)		probably benign	Het
Ckap2l	G	A	2: 129,111,161 (GRCm39)	Q679*	probably null	Het
Clec4g	T	A	8: 3,768,565 (GRCm39)	N93I	probably benign	Het
Cntnap2	T	A	6: 45,992,165 (GRCm39)	L364Q	probably damaging	Het
Cul9	A	G	17: 46,841,026 (GRCm39)	M748T	probably benign	Het
Dnah11	A	T	12: 118,150,711 (GRCm39)	I349N	probably damaging	Het
Dnajc14	T	A	10: 128,642,260 (GRCm39)	Y61N	probably benign	Het
Dock6	A	T	9: 21,713,802 (GRCm39)	Y1909*	probably null	Het
Dock8	T	A	19: 25,165,739 (GRCm39)	D1874E	probably benign	Het
Dpm1	A	G	2: 168,072,210 (GRCm39)	S22P	probably benign	Het
Dysf	T	C	6: 84,128,885 (GRCm39)	L1385P	probably damaging	Het
Egf	T	C	3: 129,491,421 (GRCm39)	T859A	probably benign	Het
Eif2b1	A	T	5: 124,711,867 (GRCm39)	S162T	probably benign	Het
Emilin1	T	C	5: 31,075,484 (GRCm39)	L575P	probably damaging	Het
Erp27	T	A	6: 136,886,550 (GRCm39)	Q161L	probably benign	Het
Fbxw10	C	A	11: 62,765,945 (GRCm39)	D738E	possibly damaging	Het
Fcgbp	T	G	7: 27,790,937 (GRCm39)	C733G	probably damaging	Het
Fgb	T	A	3: 82,957,122 (GRCm39)		probably benign	Het
Gata3os	A	T	2: 9,887,634 (GRCm39)	T12S	unknown	Het
Got1l1	G	T	8: 27,688,503 (GRCm39)	Q283K	probably benign	Het
Grk2	G	A	19: 4,340,871 (GRCm39)	R226C	probably damaging	Het
Hoxa10	T	C	6: 52,211,334 (GRCm39)	D194G	probably benign	Het
Ipcef1	G	A	10: 6,840,620 (GRCm39)	T363I	probably damaging	Het
Itga10	C	A	3: 96,564,273 (GRCm39)	T922N	probably damaging	Het
Itgad	T	C	7: 127,777,552 (GRCm39)	I144T	probably benign	Het
Kat6b	C	A	14: 21,567,564 (GRCm39)	Q208K	possibly damaging	Het
Kidins220	T	G	12: 25,088,383 (GRCm39)	L1042R	probably damaging	Het
Kmt2c	T	C	5: 25,486,355 (GRCm39)	S4733G	probably damaging	Het
Lrig3	A	G	10: 125,850,736 (GRCm39)	I1101V	probably benign	Het
Lrp1	T	A	10: 127,431,229 (GRCm39)	N311I	probably damaging	Het
Man2a1	A	T	17: 64,958,310 (GRCm39)	K275I	probably benign	Het
Map3k10	T	A	7: 27,364,434 (GRCm39)	N318I	probably damaging	Het
Map3k8	G	A	18: 4,333,869 (GRCm39)	R408W	probably damaging	Het
Mast1	A	G	8: 85,647,805 (GRCm39)	M523T	probably damaging	Het
Mast4	T	C	13: 102,873,593 (GRCm39)	H1925R	probably benign	Het
Med12l	C	T	3: 58,984,207 (GRCm39)	S461L	probably damaging	Het
Mfap1a	T	C	2: 121,333,237 (GRCm39)	K65E	probably damaging	Het
Mical1	T	C	10: 41,358,602 (GRCm39)	S507P	probably benign	Het
Miga2	T	C	2: 30,268,400 (GRCm39)	V433A	unknown	Het
Mpdz	T	C	4: 81,274,653 (GRCm39)	T848A	probably benign	Het
Mycn	A	G	12: 12,989,778 (GRCm39)	V206A	probably benign	Het
Ndst1	G	A	18: 60,838,220 (GRCm39)	Q342*	probably null	Het
Nectin1	A	G	9: 43,702,369 (GRCm39)	M39V	probably benign	Het
Nectin4	A	T	1: 171,210,209 (GRCm39)	R234*	probably null	Het
Ngb	C	G	12: 87,145,317 (GRCm39)	V113L	possibly damaging	Het
Nphp3	T	A	9: 103,913,337 (GRCm39)	Y990N	probably damaging	Het
Nrdc	T	C	4: 108,915,833 (GRCm39)		probably null	Het
Or10a2	A	T	7: 106,673,739 (GRCm39)	K235*	probably null	Het
Or1e23	T	A	11: 73,407,351 (GRCm39)	I225F	probably damaging	Het
Or5p60	T	A	7: 107,723,801 (GRCm39)	Y223F	probably benign	Het
Osbpl6	A	G	2: 76,415,603 (GRCm39)	Y655C	probably damaging	Het
Pcdhgb4	A	G	18: 37,855,882 (GRCm39)	Q759R	probably benign	Het
Pcsk4	T	C	10: 80,161,800 (GRCm39)	D164G	probably damaging	Het
Pde4d	T	A	13: 110,071,915 (GRCm39)	I303N	probably damaging	Het
Pdf	T	A	8: 107,774,972 (GRCm39)	M87L	probably benign	Het
Pigb	A	G	9: 72,941,840 (GRCm39)	S140P	probably damaging	Het
Plch1	T	A	3: 63,758,549 (GRCm39)		probably benign	Het
Plxna1	G	T	6: 89,319,633 (GRCm39)	D557E	probably benign	Het
Polr2e	C	T	10: 79,872,792 (GRCm39)	V149M	probably benign	Het
Polr3a	A	T	14: 24,503,313 (GRCm39)	C1174S	probably benign	Het
Prb1c	T	A	6: 132,338,891 (GRCm39)	N109I	unknown	Het
Psmd2	T	A	16: 20,474,369 (GRCm39)	S308R	probably benign	Het
Ptger1	T	A	8: 84,396,002 (GRCm39)	V353E	probably damaging	Het
Ptprc	A	G	1: 137,996,111 (GRCm39)	M940T	probably benign	Het
Pus7l	T	C	15: 94,425,781 (GRCm39)	N540S	probably damaging	Het
Rap1gds1	T	A	3: 138,756,317 (GRCm39)	I13L	probably benign	Het
Rasl10b	A	T	11: 83,303,590 (GRCm39)	N49I	probably damaging	Het
Rftn1	A	T	17: 50,301,237 (GRCm39)	N537K	probably benign	Het
Rnase4	A	G	14: 51,342,645 (GRCm39)	Y123C	probably damaging	Het
Rnf181	A	C	6: 72,338,302 (GRCm39)	N26K	probably benign	Het
Rnf31	G	A	14: 55,836,269 (GRCm39)		probably null	Het
Rpusd3	C	G	6: 113,393,200 (GRCm39)	C304S	unknown	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,664,270 (GRCm39)	V1694L	probably benign	Het
Sanbr	T	C	11: 23,559,098 (GRCm39)	Y372C	probably damaging	Het
Sephs2	T	C	7: 126,872,346 (GRCm39)	D249G	probably damaging	Het
Serpina10	A	G	12: 103,583,217 (GRCm39)	I409T	probably damaging	Het
Serpina5	C	T	12: 104,069,403 (GRCm39)	A205V	probably damaging	Het
Sfr1	T	A	19: 47,723,453 (GRCm39)	V319E	probably damaging	Het
Slc15a5	T	C	6: 138,049,954 (GRCm39)	T154A	probably benign	Het
Slc27a2	T	A	2: 126,429,846 (GRCm39)	L618Q	probably damaging	Het
Slc6a6	A	T	6: 91,726,808 (GRCm39)	Y483F	probably benign	Het
Sprr1b	T	C	3: 92,344,443 (GRCm39)	I144M	probably benign	Het
Stat5a	T	A	11: 100,771,161 (GRCm39)	V580E		Het
Tnk1	C	T	11: 69,746,011 (GRCm39)	D305N	probably damaging	Het
Tox2	A	G	2: 163,164,930 (GRCm39)	*523W	probably null	Het
Trav12-2	A	G	14: 53,854,085 (GRCm39)	N20D	probably benign	Het
Trav16	T	A	14: 53,981,046 (GRCm39)	N78K	probably damaging	Het
Trf	C	T	9: 103,104,130 (GRCm39)	A78T	probably damaging	Het
Ttn	A	G	2: 76,711,543 (GRCm39)		probably benign	Het
Vmn2r67	T	A	7: 84,785,834 (GRCm39)	M724L	probably benign	Het
Vmn2r94	A	T	17: 18,477,261 (GRCm39)	F383L	probably benign	Het
Vwa2	T	C	19: 56,895,208 (GRCm39)	S461P	probably benign	Het
Zfp991	G	A	4: 147,264,327 (GRCm39)	G568E	probably damaging	Het
Zfpl1	A	G	19: 6,134,440 (GRCm39)	F15S	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
R4865:Skil	UTSW	3	31,167,562 (GRCm39)	missense	probably damaging	1.00
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
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'- GACATGATAGCACAGCTGAAGTTC -3'
(R):5'- AAGCTGTGCCTGCAACAATC -3'

Sequencing Primer
(F):5'- AAGTTCAGCTGCCTTGTGAC -3'
(R):5'- ATCCTGAAACCTAGCCTGACTTG -3'

Posted On

2022-07-18