Mutagenetix > Incidental Mutation

Incidental Mutation 'R8515:Ski'

656075

Institutional Source

Beutler Lab

Gene Symbol

Ski

Ensembl Gene

ENSMUSG00000029050

Gene Name

ski sarcoma viral oncogene homolog (avian)

Synonyms

2310012I02Rik, 2610001A11Rik

MMRRC Submission

067847-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8515 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155238532-155306992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155245083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 388 (S388G)

Ref Sequence

ENSEMBL: ENSMUSP00000030917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030917] [ENSMUST00000084103]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030917
AA Change: S388G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030917
Gene: ENSMUSG00000029050
AA Change: S388G

Domain	Start	End	E-Value	Type
Pfam:Ski_Sno	84	191	3.2e-49	PFAM
c-SKI_SMAD_bind	217	312	2.5e-61	SMART
low complexity region	470	508	N/A	INTRINSIC
low complexity region	518	534	N/A	INTRINSIC
SCOP:d1eq1a_	555	707	3e-16	SMART
low complexity region	709	714	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084103
AA Change: S336G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000081120
Gene: ENSMUSG00000029050
AA Change: S336G

Domain	Start	End	E-Value	Type
Pfam:Ski_Sno	29	140	8.3e-43	PFAM
c-SKI_SMAD_bind	165	260	2.5e-61	SMART
low complexity region	418	456	N/A	INTRINSIC
low complexity region	466	482	N/A	INTRINSIC
SCOP:d1eq1a_	503	655	1e-14	SMART
low complexity region	657	662	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous null embryos die during late gestation and exhibit neural tube defects, craniofacial anomalies, and reduced skeletal muscle mass. Haploinsufficient mice have an increased susceptibility to tumorigenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	G	6: 86,902,112 (GRCm39)	M94V	possibly damaging	Het
Acss3	A	G	10: 106,784,524 (GRCm39)	I566T	possibly damaging	Het
Adcy3	T	C	12: 4,262,187 (GRCm39)	V1080A	probably damaging	Het
Aldh1b1	C	T	4: 45,803,818 (GRCm39)	T452I	probably damaging	Het
Bptf	A	T	11: 106,946,064 (GRCm39)	S2392T	possibly damaging	Het
Ccnb2	A	G	9: 70,320,382 (GRCm39)		probably null	Het
Clec4a4	T	A	6: 122,980,982 (GRCm39)	Y72N	probably benign	Het
Clk4	G	A	11: 51,166,088 (GRCm39)	R198Q	probably damaging	Het
Coro2a	ACCAGAAGAGCCATCCAG	ACCAG	4: 46,544,117 (GRCm39)		probably null	Het
Ctbs	T	A	3: 146,164,568 (GRCm39)	Y240*	probably null	Het
Cyp2d22	T	C	15: 82,258,113 (GRCm39)	D169G	probably benign	Het
Dnah11	C	T	12: 117,939,533 (GRCm39)	V3196I	probably damaging	Het
Fam110b	T	C	4: 5,799,380 (GRCm39)	V266A	probably benign	Het
Fbxo40	A	G	16: 36,791,015 (GRCm39)	S32P	probably damaging	Het
Gm4787	T	A	12: 81,424,043 (GRCm39)	H705L	probably benign	Het
Grik1	A	T	16: 87,720,170 (GRCm39)	Y702*	probably null	Het
Hao2	A	T	3: 98,790,963 (GRCm39)	N70K	probably benign	Het
Heatr4	A	G	12: 84,001,478 (GRCm39)	I888T	probably damaging	Het
Herc4	T	A	10: 63,151,565 (GRCm39)	N935K	probably benign	Het
Kdm3b	G	T	18: 34,926,129 (GRCm39)	A90S	probably benign	Het
Kif3b	C	T	2: 153,158,427 (GRCm39)	T76M	probably damaging	Het
Kmo	A	T	1: 175,474,718 (GRCm39)	H134L	probably damaging	Het
Lama3	C	A	18: 12,544,688 (GRCm39)	Q344K	probably null	Het
Man2a2	A	T	7: 80,018,038 (GRCm39)	F211I	possibly damaging	Het
Mmp19	T	C	10: 128,631,471 (GRCm39)	I189T	probably benign	Het
Muc4	G	A	16: 32,575,629 (GRCm39)	G1710S	unknown	Het
Myo15b	G	A	11: 115,749,610 (GRCm39)	G127S		Het
Naca	T	C	10: 127,880,112 (GRCm39)	S1715P	possibly damaging	Het
Ndufs4	T	C	13: 114,425,339 (GRCm39)	N163S	probably damaging	Het
Nim1k	G	A	13: 120,173,986 (GRCm39)	R303*	probably null	Het
Nkx6-3	A	T	8: 23,643,707 (GRCm39)	Y36F	possibly damaging	Het
Osbpl10	C	A	9: 115,005,136 (GRCm39)	Q188K	probably benign	Het
Pak6	G	T	2: 118,520,478 (GRCm39)	R156S	probably benign	Het
Pcf11	T	A	7: 92,307,998 (GRCm39)	K723N	possibly damaging	Het
Pcnx1	A	G	12: 82,009,490 (GRCm39)	Y546C	possibly damaging	Het
Pik3r6	A	G	11: 68,430,783 (GRCm39)	Y528C	probably damaging	Het
Ppp3cb	T	A	14: 20,581,844 (GRCm39)	N57I	probably benign	Het
Preb	A	G	5: 31,116,722 (GRCm39)	L57P	probably damaging	Het
Prkdc	A	G	16: 15,482,232 (GRCm39)	D425G	probably damaging	Het
Rab35	G	A	5: 115,781,467 (GRCm39)	V90I	probably damaging	Het
Rab3gap2	G	C	1: 184,995,017 (GRCm39)	S852T	probably benign	Het
Rcn1	C	T	2: 105,219,464 (GRCm39)	R243Q	probably null	Het
Rom1	A	G	19: 8,906,465 (GRCm39)	S25P	probably damaging	Het
Shank3	C	A	15: 89,387,775 (GRCm39)	Y286*	probably null	Het
Sis	T	A	3: 72,836,742 (GRCm39)	I837L	probably benign	Het
Skint1	T	C	4: 111,867,921 (GRCm39)	F16S	probably benign	Het
Slc22a21	T	G	11: 53,846,904 (GRCm39)	D323A	possibly damaging	Het
Slc40a1	G	A	1: 45,951,467 (GRCm39)	T230I	probably damaging	Het
Snrpa1	G	A	7: 65,720,381 (GRCm39)	G195R	probably benign	Het
Spata31d1c	G	T	13: 65,180,991 (GRCm39)	S30I	probably damaging	Het
Spata31h1	T	A	10: 82,124,436 (GRCm39)	D2858V	probably benign	Het
Spdl1	G	A	11: 34,704,252 (GRCm39)	T527I	possibly damaging	Het
Sptb	A	T	12: 76,658,815 (GRCm39)	L1240Q	probably benign	Het
Tef	T	A	15: 81,687,037 (GRCm39)	V18D	possibly damaging	Het
Uckl1	T	C	2: 181,216,280 (GRCm39)	D155G	probably damaging	Het
Vmn1r215	A	G	13: 23,260,037 (GRCm39)	I26V	probably benign	Het
Wac	A	G	18: 7,871,606 (GRCm39)	M46V	probably benign	Het
Wbp1	C	T	6: 83,096,866 (GRCm39)	G146D	probably damaging	Het
Zfand2a	A	C	5: 139,459,546 (GRCm39)	S147A	probably benign	Het
Zfhx4	A	T	3: 5,464,534 (GRCm39)	Y1589F	probably benign	Het
Zfp345	G	C	2: 150,314,348 (GRCm39)	D396E	probably benign	Het

Other mutations in Ski

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00919:Ski	APN	4	155,306,799 (GRCm39)	missense	possibly damaging	0.86
IGL01316:Ski	APN	4	155,306,143 (GRCm39)	missense	probably damaging	1.00
IGL02423:Ski	APN	4	155,244,191 (GRCm39)	missense	probably damaging	0.99
IGL03378:Ski	APN	4	155,245,329 (GRCm39)	missense	probably benign
R0518:Ski	UTSW	4	155,243,743 (GRCm39)	critical splice donor site	probably null
R1611:Ski	UTSW	4	155,244,395 (GRCm39)	missense	probably damaging	0.99
R1865:Ski	UTSW	4	155,306,698 (GRCm39)	missense	possibly damaging	0.86
R1986:Ski	UTSW	4	155,306,148 (GRCm39)	missense	probably damaging	1.00
R2040:Ski	UTSW	4	155,306,029 (GRCm39)	missense	probably damaging	1.00
R2419:Ski	UTSW	4	155,245,350 (GRCm39)	missense	probably benign
R5113:Ski	UTSW	4	155,243,849 (GRCm39)	missense	probably benign	0.13
R6236:Ski	UTSW	4	155,244,001 (GRCm39)	missense	probably benign	0.37
R6783:Ski	UTSW	4	155,245,289 (GRCm39)	critical splice donor site	probably null
R8708:Ski	UTSW	4	155,245,119 (GRCm39)	missense	probably damaging	0.98
R8836:Ski	UTSW	4	155,245,047 (GRCm39)	missense	probably benign	0.31
R8886:Ski	UTSW	4	155,244,016 (GRCm39)	missense	probably null	0.93
R8976:Ski	UTSW	4	155,242,411 (GRCm39)	missense	probably damaging	0.99
R9005:Ski	UTSW	4	155,306,317 (GRCm39)	missense	probably damaging	0.98
R9762:Ski	UTSW	4	155,244,344 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTCTGTGAACTCAGCACCTTC -3'
(R):5'- CTTGGCTGGTTCCTCCAATAAGG -3'

Sequencing Primer
(F):5'- GCACCTTCATCAAAGACTTTAATGG -3'
(R):5'- CCTCCAATAAGGTGCTATGTGG -3'

Posted On

2020-10-20