Mutagenetix > Incidental Mutation

Incidental Mutation 'R7999:Skil'

616241

Institutional Source

Beutler Lab

Gene Symbol

Skil

Ensembl Gene

ENSMUSG00000027660

Gene Name

SKI-like

Synonyms

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

MMRRC Submission

046039-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7999 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31149259-31176741 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31151751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 91 (H91R)

Ref Sequence

ENSEMBL: ENSMUSP00000113256 (fasta)

Gene Model

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

AlphaFold

Q60665

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029194
AA Change: H91R

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029194
Gene: ENSMUSG00000027660
AA Change: H91R

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

possibly damaging
Transcript: ENSMUST00000118204
AA Change: H91R

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112413
Gene: ENSMUSG00000027660
AA Change: H91R

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

possibly damaging
Transcript: ENSMUST00000118470
AA Change: H91R

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113256
Gene: ENSMUSG00000027660
AA Change: H91R

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

possibly damaging
Transcript: ENSMUST00000123532
AA Change: H91R

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123522
Gene: ENSMUSG00000027660
AA Change: H91R

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: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	A	G	10: 20,841,580 (GRCm39)	E289G	probably benign	Het
Armc2	C	T	10: 41,887,954 (GRCm39)	E10K	possibly damaging	Het
Aspscr1	T	C	11: 120,569,348 (GRCm39)		probably null	Het
B3galnt1	A	G	3: 69,482,548 (GRCm39)	C238R	probably damaging	Het
Bak1	A	G	17: 27,240,280 (GRCm39)	L129P	probably damaging	Het
Bdp1	A	G	13: 100,195,404 (GRCm39)	F1272L	possibly damaging	Het
C2cd3	G	A	7: 100,109,096 (GRCm39)		probably null	Het
Cacna1b	A	T	2: 24,540,638 (GRCm39)	V1363E	probably damaging	Het
Capn11	T	C	17: 45,950,132 (GRCm39)	N344S	probably damaging	Het
Ces1f	A	T	8: 93,989,623 (GRCm39)	V431E	possibly damaging	Het
Cog3	G	T	14: 75,984,533 (GRCm39)	S94Y	possibly damaging	Het
Defa29	A	T	8: 21,816,859 (GRCm39)	S45T	probably benign	Het
Dnaaf9	C	A	2: 130,579,372 (GRCm39)	V753L	probably benign	Het
Dnah10	A	G	5: 124,802,322 (GRCm39)	D32G	probably benign	Het
Dnajc24	T	A	2: 105,811,365 (GRCm39)	N70I	probably damaging	Het
Duox2	C	T	2: 122,113,948 (GRCm39)	V1195I	probably benign	Het
Enam	A	T	5: 88,651,561 (GRCm39)	R1023S	probably benign	Het
Ephx4	A	T	5: 107,567,699 (GRCm39)	Q219L	probably damaging	Het
Eppk1	T	C	15: 75,993,204 (GRCm39)	T1226A	probably benign	Het
Eppk1	T	C	15: 75,993,335 (GRCm39)	Q1182R	probably benign	Het
Fiz1	A	T	7: 5,011,997 (GRCm39)	S174T	probably benign	Het
Ggnbp1	C	T	17: 27,248,619 (GRCm39)	R63C	probably benign	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gsdmd	T	A	15: 75,735,295 (GRCm39)	I13N	probably damaging	Het
Gtpbp4	T	C	13: 9,037,322 (GRCm39)	D292G	probably damaging	Het
Hnf1a	A	T	5: 115,098,233 (GRCm39)	L123*	probably null	Het
Ints11	A	G	4: 155,971,413 (GRCm39)	D309G	probably benign	Het
Ints5	T	C	19: 8,874,407 (GRCm39)	S789P	probably benign	Het
Jakmip2	G	A	18: 43,696,398 (GRCm39)	A517V	probably benign	Het
Kat7	A	G	11: 95,174,935 (GRCm39)	Y270H	probably damaging	Het
Kmt2b	A	G	7: 30,276,199 (GRCm39)	S1767P	probably damaging	Het
Lonp2	A	G	8: 87,361,537 (GRCm39)	D238G	probably benign	Het
Lrfn3	A	G	7: 30,059,449 (GRCm39)	W259R	probably damaging	Het
Mmrn2	G	A	14: 34,119,879 (GRCm39)	D250N	probably benign	Het
Mre11a	A	T	9: 14,710,965 (GRCm39)	R49*	probably null	Het
Mug1	T	C	6: 121,857,855 (GRCm39)	L1116P	possibly damaging	Het
Mup9	A	G	4: 60,374,202 (GRCm39)	S234P	probably benign	Het
Nlrp9c	A	G	7: 26,084,914 (GRCm39)	F222L	possibly damaging	Het
Nr2e3	A	G	9: 59,856,282 (GRCm39)	V85A	probably damaging	Het
Or4a79	A	G	2: 89,552,344 (GRCm39)	I37T	probably benign	Het
Prl3d2	A	G	13: 27,307,949 (GRCm39)	T77A	probably benign	Het
Prpsap1	A	T	11: 116,381,042 (GRCm39)	M1K	probably null	Het
Prrc2b	C	T	2: 32,084,426 (GRCm39)	T297M	probably damaging	Het
Rasa3	A	G	8: 13,681,805 (GRCm39)	F48S	probably benign	Het
Rbm24	A	T	13: 46,572,507 (GRCm39)	M1L	possibly damaging	Het
Ren1	C	A	1: 133,282,604 (GRCm39)	T103K	probably damaging	Het
Rpf2	C	T	10: 40,099,880 (GRCm39)	G260S	probably damaging	Het
Sall4	C	T	2: 168,594,561 (GRCm39)	G862D	probably damaging	Het
Samd4	G	T	14: 47,301,704 (GRCm39)	R336L	probably damaging	Het
Shoc1	G	C	4: 59,094,162 (GRCm39)	F187L	probably benign	Het
Siglec1	T	C	2: 130,913,083 (GRCm39)	N1611S	probably benign	Het
Snip1	T	C	4: 124,965,174 (GRCm39)	V193A	probably benign	Het
Sp2	A	T	11: 96,852,663 (GRCm39)	I87N	probably damaging	Het
Syna	T	C	5: 134,588,046 (GRCm39)	H301R	probably benign	Het
Tdg	A	G	10: 82,477,216 (GRCm39)	K89R	possibly damaging	Het
Tdrd7	G	A	4: 46,010,902 (GRCm39)		probably null	Het
Trak1	G	A	9: 121,289,491 (GRCm39)	R601H	probably damaging	Het
Triobp	T	C	15: 78,844,144 (GRCm39)	L120P	probably damaging	Het
Utp20	A	T	10: 88,606,250 (GRCm39)	N1697K	probably benign	Het
Uts2r	G	A	11: 121,051,495 (GRCm39)	V120M	possibly damaging	Het
Vmn2r59	A	G	7: 41,696,256 (GRCm39)	L162P	probably damaging	Het
Zbtb17	G	A	4: 141,189,134 (GRCm39)	R18Q	probably damaging	Het
Zfp551	A	T	7: 12,151,138 (GRCm39)	C90*	probably null	Het
Zfp605	T	A	5: 110,276,300 (GRCm39)	C473S	probably damaging	Het
Zfp764l1	T	A	7: 126,991,600 (GRCm39)	S117C	probably damaging	Het
Zfp975	A	T	7: 42,312,356 (GRCm39)	Y86N	probably benign	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
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'- TGATGACCGACATTCATGCC -3'
(R):5'- GGCAAACAGAGTCTCTTTTCTCC -3'

Sequencing Primer
(F):5'- CGACATTCATGCCAATGGG -3'
(R):5'- CTTTTCTCCTCCAACTTGAAAACAAG -3'

Posted On

2020-01-23