Mutagenetix > Incidental Mutation

Incidental Mutation 'R7270:Skil'

565213

Institutional Source

Beutler Lab

Gene Symbol

Skil

Ensembl Gene

ENSMUSG00000027660

Gene Name

SKI-like

Synonyms

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

MMRRC Submission

045390-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7270 (G1)

Quality Score

111.008

Status

Not validated

Chromosome

Chromosomal Location

31149259-31176741 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 31151324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029194] [ENSMUST00000117728] [ENSMUST00000118204] [ENSMUST00000118470] [ENSMUST00000123532]

AlphaFold

Q60665

Predicted Effect

probably benign
Transcript: ENSMUST00000029194

SMART Domains

Protein: ENSMUSP00000029194
Gene: ENSMUSG00000027660

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

SMART Domains

Protein: ENSMUSP00000113054
Gene: ENSMUSG00000027660

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

SMART Domains

Protein: ENSMUSP00000112413
Gene: ENSMUSG00000027660

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

SMART Domains

Protein: ENSMUSP00000113256
Gene: ENSMUSG00000027660

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

Predicted Effect

probably benign
Transcript: ENSMUST00000123532

SMART Domains

Protein: ENSMUSP00000123522
Gene: ENSMUSG00000027660

Domain	Start	End	E-Value	Type
Pfam:Ski_Sno	121	187	6.9e-24	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	A	T	10: 42,301,245 (GRCm39)	Y193N	probably damaging	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
Aimp1	T	C	3: 132,382,772 (GRCm39)	K44E	probably damaging	Het
Arid1b	T	A	17: 5,046,318 (GRCm39)	Y369N	unknown	Het
Art5	A	T	7: 101,747,080 (GRCm39)	V233D	probably damaging	Het
Baz2b	T	A	2: 59,792,836 (GRCm39)	N431Y	possibly damaging	Het
Bik	T	A	15: 83,428,364 (GRCm39)	F131I	possibly damaging	Het
Bmpr1a	A	G	14: 34,163,082 (GRCm39)	Y103H	probably damaging	Het
Cabp7	C	T	11: 4,696,676 (GRCm39)	V18M	possibly damaging	Het
Cacna1a	C	A	8: 85,297,866 (GRCm39)	T1240N	probably damaging	Het
Cacna1h	A	G	17: 25,603,739 (GRCm39)	V1311A	probably damaging	Het
Cbarp	A	C	10: 79,973,151 (GRCm39)	S16A	possibly damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ces2b	A	T	8: 105,564,472 (GRCm39)	H494L	possibly damaging	Het
Cfap43	T	A	19: 47,728,224 (GRCm39)	H1511L	possibly damaging	Het
Cfap54	A	G	10: 92,675,320 (GRCm39)	V2867A	probably benign	Het
Col5a1	C	T	2: 27,887,597 (GRCm39)	P956L	unknown	Het
Dcakd	T	G	11: 102,891,032 (GRCm39)	Q19P	possibly damaging	Het
Ddx47	T	A	6: 135,000,301 (GRCm39)	D432E	probably benign	Het
Dhrs7b	T	C	11: 60,735,055 (GRCm39)	F29L	probably benign	Het
Dis3l2	A	T	1: 86,918,025 (GRCm39)	D558V	possibly damaging	Het
Dtx3l	T	A	16: 35,754,027 (GRCm39)	D193V	probably damaging	Het
Eif1ad12	T	C	12: 87,541,663 (GRCm39)	L58P	probably damaging	Het
Epha4	G	A	1: 77,376,422 (GRCm39)	R486C	probably damaging	Het
Fam186a	T	C	15: 99,842,033 (GRCm39)	T1404A	possibly damaging	Het
Fat1	A	G	8: 45,490,475 (GRCm39)	T3796A	probably damaging	Het
Ffar2	A	T	7: 30,518,929 (GRCm39)	W204R	probably benign	Het
Ftmt	A	G	18: 52,465,091 (GRCm39)	I136V	probably benign	Het
Gm10300	T	C	4: 131,802,167 (GRCm39)	W54R	unknown	Het
Gm10518	C	T	1: 179,630,949 (GRCm39)	P3L	unknown	Het
Grm2	G	A	9: 106,528,257 (GRCm39)	T209M	probably damaging	Het
Gtdc1	C	T	2: 44,525,322 (GRCm39)	M176I	probably benign	Het
Insrr	T	C	3: 87,710,440 (GRCm39)	L382P	probably damaging	Het
Jade2	A	G	11: 51,708,011 (GRCm39)	V734A	possibly damaging	Het
Kcnh4	C	T	11: 100,638,472 (GRCm39)	R586H	probably benign	Het
Kdm1a	A	T	4: 136,279,838 (GRCm39)	D721E	probably damaging	Het
Knl1	G	A	2: 118,933,003 (GRCm39)	C2054Y	possibly damaging	Het
Lrrk2	C	T	15: 91,584,644 (GRCm39)	P354S	probably benign	Het
Luzp2	A	G	7: 54,724,774 (GRCm39)	I112V	probably damaging	Het
Mgl2	T	C	11: 70,026,506 (GRCm39)	S105P	probably damaging	Het
Mocs1	T	A	17: 49,756,143 (GRCm39)	M200K	possibly damaging	Het
Oat	T	A	7: 132,168,927 (GRCm39)	I98L	probably benign	Het
Obscn	T	C	11: 58,920,312 (GRCm39)	Y8C		Het
Or5b108	G	A	19: 13,168,768 (GRCm39)	V246I	possibly damaging	Het
Or6c1b	T	G	10: 129,273,319 (GRCm39)	F213V	probably benign	Het
Pde1b	T	A	15: 103,430,082 (GRCm39)	M137K	possibly damaging	Het
Phf21a	T	C	2: 92,157,484 (GRCm39)	I204T	probably damaging	Het
Plcd4	A	G	1: 74,593,838 (GRCm39)	E321G	possibly damaging	Het
Plpp7	C	T	2: 31,985,662 (GRCm39)		probably benign	Het
Prdm1	A	G	10: 44,317,566 (GRCm39)	I419T	probably benign	Het
Sec16b	A	T	1: 157,392,032 (GRCm39)	R855W	probably damaging	Het
Sec16b	G	T	1: 157,392,033 (GRCm39)	R855M	probably damaging	Het
Sec31b	T	C	19: 44,511,482 (GRCm39)	T640A	probably benign	Het
Siglec1	T	C	2: 130,923,471 (GRCm39)	T425A	possibly damaging	Het
Sirpd	A	T	3: 15,385,704 (GRCm39)	I66N	probably benign	Het
Slc1a5	G	A	7: 16,519,623 (GRCm39)	V200M	probably damaging	Het
Slc25a12	T	C	2: 71,154,369 (GRCm39)	H139R	probably benign	Het
Slc25a32	A	T	15: 38,961,630 (GRCm39)	V187D	probably damaging	Het
Slc35a3	G	A	3: 116,505,455 (GRCm39)		probably benign	Het
Smap2	C	A	4: 120,829,264 (GRCm39)	M328I	probably benign	Het
Spef2	C	T	15: 9,600,066 (GRCm39)		probably null	Het
Srarp	A	G	4: 141,160,389 (GRCm39)	V148A	possibly damaging	Het
Stard9	T	A	2: 120,464,755 (GRCm39)	Y73*	probably null	Het
Tars1	A	G	15: 11,392,105 (GRCm39)	C236R	probably benign	Het
Tchh	G	C	3: 93,351,837 (GRCm39)	D426H	unknown	Het
Tnks2	T	C	19: 36,836,545 (GRCm39)	F17S		Het
Ube2g1	T	C	11: 72,553,939 (GRCm39)	I30T	possibly damaging	Het
Ube2o	C	T	11: 116,434,761 (GRCm39)	D567N	possibly damaging	Het
Unc5b	A	T	10: 60,608,002 (GRCm39)	Y710*	probably null	Het
Vmn1r215	T	C	13: 23,260,089 (GRCm39)	V43A	possibly damaging	Het
Xkr8	A	G	4: 132,455,648 (GRCm39)	F242L	probably benign	Het
Zfp526	T	A	7: 24,925,345 (GRCm39)	C535S	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
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'- TACAGTCATGGTATAAACTTCCCAC -3'
(R):5'- GAGGTTTTCCATGGCCACAC -3'

Sequencing Primer
(F):5'- GGTATAAACTTCCCACATGCTTTG -3'
(R):5'- ATGGCCACACTGGTGCTTTAAAC -3'

Posted On

2019-06-26