Mutagenetix > Incidental Mutation

Incidental Mutation 'R9712:Skil'

730231

Institutional Source

Beutler Lab

Gene Symbol

Skil

Ensembl Gene

ENSMUSG00000027660

Gene Name

SKI-like

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31095058-31122577 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31116860 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 443 (S443P)

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: S489P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029194
Gene: ENSMUSG00000027660
AA Change: S489P

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: S363P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113054
Gene: ENSMUSG00000027660
AA Change: S363P

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: S489P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112413
Gene: ENSMUSG00000027660
AA Change: S489P

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: S443P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113256
Gene: ENSMUSG00000027660
AA Change: S443P

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: 98.6%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	T	19: 3,715,784	M20L	probably benign	Het
9430007A20Rik	C	T	4: 144,528,784	A258V	probably benign	Het
Abca8b	T	A	11: 109,942,337	D1241V	probably benign	Het
Adam20	G	A	8: 40,795,453	R200H	probably benign	Het
Adcy10	T	C	1: 165,513,112	F229L	probably damaging	Het
Adsl	A	T	15: 80,955,639	N126I	probably benign	Het
Ahnak	AGATCTC	A	19: 9,007,028		probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 9,007,029		probably benign	Het
Aktip	G	A	8: 91,129,727	P41S	probably damaging	Het
Alkbh3	C	A	2: 93,980,973	R258L	probably damaging	Het
Arfgap3	A	G	15: 83,313,533	Y341H	probably benign	Het
Arhgef26	C	T	3: 62,423,613	L583F	probably damaging	Het
Arhgef40	T	C	14: 51,988,958	I153T	probably damaging	Het
Atp1a1	T	C	3: 101,591,441	S179G	probably benign	Het
Bok	T	C	1: 93,686,507	S21P	probably damaging	Het
C130060K24Rik	A	G	6: 65,456,140	I315V	probably benign	Het
Ccdc136	A	G	6: 29,417,442	E754G	probably benign	Het
Cers3	A	G	7: 66,773,630	K108E	probably benign	Het
Cmya5	T	C	13: 93,065,373		probably null	Het
Col19a1	T	C	1: 24,328,067	E478G	possibly damaging	Het
Colec10	T	A	15: 54,459,784	S134R	possibly damaging	Het
Ctnnb1	A	T	9: 120,955,829	I514F	probably damaging	Het
Cux1	C	T	5: 136,309,819	E664K	probably benign	Het
Dars	T	C	1: 128,405,462	Q75R	probably benign	Het
Disp1	T	A	1: 183,135,815	S16C	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Ect2l	C	T	10: 18,168,434	V226I	probably benign	Het
Ep400	T	A	5: 110,756,643	H30L	unknown	Het
Ephx4	A	G	5: 107,419,781	I202V	probably benign	Het
Exoc3	A	T	13: 74,192,908	F259Y	probably damaging	Het
Ezr	T	C	17: 6,752,995	E229G	probably damaging	Het
Fat1	A	T	8: 45,017,380	I1472L	probably benign	Het
Fsd1l	T	G	4: 53,679,972	D223E	probably benign	Het
Gata6	A	T	18: 11,059,064	D377V	possibly damaging	Het
Gm12185	A	T	11: 48,907,389	M759K	probably benign	Het
Gm21994	C	T	2: 150,254,576	R311Q	probably benign	Het
Gm9922	C	T	14: 101,729,457	A120T	unknown	Het
Hectd4	A	T	5: 121,310,681	Y364F	probably benign	Het
Hnrnph1	A	G	11: 50,385,869	S465G	unknown	Het
Ifi204	T	C	1: 173,749,358	Y559C	probably damaging	Het
Ift88	T	C	14: 57,481,396	S613P	probably damaging	Het
Kif21a	G	C	15: 90,985,325	A441G	probably damaging	Het
Kif21a	G	T	15: 90,995,512	T191K	probably benign	Het
Lrit1	T	A	14: 37,060,127	C252*	probably null	Het
Ncbp1	T	A	4: 46,144,837	D29E	probably benign	Het
Nlrp10	A	T	7: 108,925,528	D248E	probably damaging	Het
Nphp4	T	G	4: 152,547,064	V807G	probably benign	Het
Nsd1	T	C	13: 55,246,043	S589P	possibly damaging	Het
Oas1b	T	A	5: 120,814,485	N80K	probably damaging	Het
Olfr1055	G	A	2: 86,347,239	H176Y	probably benign	Het
Olfr1135	A	T	2: 87,671,761	I202N	probably benign	Het
Oprk1	T	A	1: 5,598,873	C181S	probably damaging	Het
Oprl1	T	A	2: 181,718,419	N89K	probably damaging	Het
Pdcd11	A	G	19: 47,129,302	K1697E	probably damaging	Het
Pdp1	G	A	4: 11,961,607	H254Y	probably benign	Het
Pds5b	A	T	5: 150,805,663	D1419V	possibly damaging	Het
Per1	G	T	11: 69,100,649	G3V	probably benign	Het
Pex16	C	A	2: 92,376,643	N55K	probably damaging	Het
Phldb2	C	A	16: 45,774,977	L862F	probably benign	Het
Pld5	T	A	1: 175,964,006	D478V	probably benign	Het
Pms2	T	C	5: 143,914,796	I177T	probably damaging	Het
Pou1f1	A	T	16: 65,529,872	E119D	probably benign	Het
Ppp2r1a	A	C	17: 20,958,796	E295A	probably damaging	Het
Rad51ap2	A	T	12: 11,457,592	N505I	possibly damaging	Het
Rasal3	A	C	17: 32,396,562	V434G	probably damaging	Het
Rasgrf2	C	T	13: 91,987,973	V6M		Het
Rwdd1	A	T	10: 34,001,156	D197E		Het
Scn11a	A	T	9: 119,790,010	C755*	probably null	Het
Slc12a6	T	C	2: 112,356,472	C939R	probably damaging	Het
Slc25a36	A	G	9: 97,079,177	S269P	probably benign	Het
Srrm4	T	A	5: 116,482,393	H92L	unknown	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tbc1d4	A	T	14: 101,507,410	V260E	probably benign	Het
Tbc1d8	T	C	1: 39,385,232	N593D	probably damaging	Het
Trex1	C	A	9: 109,058,737	R62L	probably damaging	Het
Trpm3	A	T	19: 22,715,352	D269V	possibly damaging	Het
Trpv4	G	T	5: 114,633,150	Y439*	probably null	Het
Ttn	G	A	2: 76,734,248	T28515I	probably damaging	Het
Ucn2	G	A	9: 108,986,503	G111D	probably damaging	Het
Uhrf2	A	G	19: 30,056,481	I212V	possibly damaging	Het
Usp24	T	A	4: 106,347,367	M261K	probably benign	Het
Vmn1r235	A	T	17: 21,261,698	D95V	probably benign	Het
Vwf	G	A	6: 125,624,573	R826Q		Het
Zfp28	T	C	7: 6,393,879	C438R	probably damaging	Het

Other mutations in Skil

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01940:Skil	APN	3	31111644	missense	probably benign	0.01
IGL02149:Skil	APN	3	31097707	missense	possibly damaging	0.47
IGL02388:Skil	APN	3	31111638	nonsense	probably null
IGL02478:Skil	APN	3	31097819	nonsense	probably null
IGL02723:Skil	APN	3	31117524	missense	probably damaging	1.00
PIT4243001:Skil	UTSW	3	31113565	missense	probably damaging	0.98
PIT4466001:Skil	UTSW	3	31098232	missense	probably damaging	1.00
PIT4472001:Skil	UTSW	3	31098232	missense	probably damaging	1.00
R1809:Skil	UTSW	3	31117506	missense	probably damaging	0.99
R3124:Skil	UTSW	3	31097338	missense	probably benign	0.03
R3750:Skil	UTSW	3	31116834	missense	probably benign	0.00
R4865:Skil	UTSW	3	31113413	missense	probably damaging	1.00
R5213:Skil	UTSW	3	31117451	missense	probably damaging	0.99
R5328:Skil	UTSW	3	31117569	missense	probably benign	0.00
R5357:Skil	UTSW	3	31113551	missense	probably benign
R5428:Skil	UTSW	3	31097498	missense	probably benign
R6153:Skil	UTSW	3	31097853	missense	probably damaging	1.00
R6613:Skil	UTSW	3	31097880	missense	probably null	1.00
R7270:Skil	UTSW	3	31097175	intron	probably benign
R7999:Skil	UTSW	3	31097602	missense	possibly damaging	0.90
R8350:Skil	UTSW	3	31097454	missense	probably benign	0.13
R8758:Skil	UTSW	3	31118537	missense	probably damaging	1.00
R8802:Skil	UTSW	3	31113443	missense	probably damaging	1.00
R8873:Skil	UTSW	3	31097926	missense	probably damaging	1.00
R8961:Skil	UTSW	3	31113580	missense	probably benign	0.02
R9526:Skil	UTSW	3	31117490	missense	probably benign	0.09
R9755:Skil	UTSW	3	31097395	missense	probably benign
Z1176:Skil	UTSW	3	31097526	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- TTTGTAGTTGTCACCTGGCACTAC -3'
(R):5'- AGCTTACCATCTGCAGCTG -3'

Sequencing Primer
(F):5'- GTCACCTGGCACTACATTTATTTG -3'
(R):5'- GCTGCTGCTTCCTCTGC -3'

Posted On

2022-10-06