Mutagenetix > Incidental Mutation

Incidental Mutation 'R2419:Ski'

249129

Institutional Source

Beutler Lab

Gene Symbol

Ski

Ensembl Gene

ENSMUSG00000029050

Gene Name

ski sarcoma viral oncogene homolog (avian)

Synonyms

2310012I02Rik, 2610001A11Rik

MMRRC Submission

040381-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2419 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155238532-155306992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155245350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 293 (S293P)

Ref Sequence

ENSEMBL: ENSMUSP00000081120 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030917
AA Change: S345P

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

SMART Domains

Protein: ENSMUSP00000030917
Gene: ENSMUSG00000029050
AA Change: S345P

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: S293P

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

SMART Domains

Protein: ENSMUSP00000081120
Gene: ENSMUSG00000029050
AA Change: S293P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129314

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (57/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,328,001 (GRCm39)	A768T	probably benign	Het
Acyp2	T	C	11: 30,582,316 (GRCm39)	Y33C	probably benign	Het
Ampd3	A	G	7: 110,367,576 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,122,997 (GRCm39)	D501G	probably damaging	Het
Arl4d	A	T	11: 101,557,714 (GRCm39)	Q80L	probably damaging	Het
Bcorl1	A	G	X: 47,459,418 (GRCm39)	T425A	probably damaging	Het
Ccdc38	T	A	10: 93,384,837 (GRCm39)	V35D	probably benign	Het
Cd6	G	A	19: 10,770,216 (GRCm39)	P492S	probably damaging	Het
Cdh20	G	A	1: 104,902,740 (GRCm39)	S477N	possibly damaging	Het
Cnmd	G	A	14: 79,875,488 (GRCm39)	P311S	probably damaging	Het
Cnot8	G	A	11: 58,006,136 (GRCm39)	G222R	probably damaging	Het
Dnah9	A	T	11: 65,986,241 (GRCm39)	L1131*	probably null	Het
Dscc1	G	A	15: 54,946,820 (GRCm39)	R302*	probably null	Het
Dusp18	T	C	11: 3,847,018 (GRCm39)	S3P	possibly damaging	Het
Eml2	A	G	7: 18,910,620 (GRCm39)		probably benign	Het
Foxb2	G	C	19: 16,850,325 (GRCm39)	A227G	probably damaging	Het
Hey1	A	G	3: 8,731,003 (GRCm39)		probably null	Het
Itk	A	G	11: 46,229,044 (GRCm39)	F379L	probably damaging	Het
Kcna2	G	A	3: 107,011,469 (GRCm39)	G17R	probably benign	Het
Kif7	C	A	7: 79,348,441 (GRCm39)	R1300L	probably benign	Het
Klkb1	A	T	8: 45,742,149 (GRCm39)	D43E	possibly damaging	Het
Leng9	A	G	7: 4,151,626 (GRCm39)	V350A	probably benign	Het
Lmbr1l	A	C	15: 98,805,418 (GRCm39)	F361C	possibly damaging	Het
Lrat	A	G	3: 82,810,992 (GRCm39)	S10P	probably damaging	Het
Lrrk2	C	A	15: 91,681,729 (GRCm39)		probably benign	Het
Mcur1	C	T	13: 43,703,013 (GRCm39)	V241M	possibly damaging	Het
Met	T	C	6: 17,535,829 (GRCm39)		probably benign	Het
Mical3	A	G	6: 120,936,884 (GRCm39)	V342A	probably benign	Het
Nup210	G	A	6: 90,994,538 (GRCm39)		probably benign	Het
Or1i2	T	A	10: 78,448,221 (GRCm39)	I85F	probably benign	Het
Or1j12	T	A	2: 36,343,338 (GRCm39)	V247E	probably damaging	Het
Or4c107	A	G	2: 88,789,380 (GRCm39)	N190S	probably benign	Het
Pcdhac1	T	C	18: 37,224,381 (GRCm39)	L398P	probably benign	Het
Phc3	T	C	3: 31,005,027 (GRCm39)	M189V	probably damaging	Het
Plcb1	A	G	2: 135,104,020 (GRCm39)		probably benign	Het
Plcxd3	G	T	15: 4,604,245 (GRCm39)	K284N	probably benign	Het
Plxnb2	A	G	15: 89,045,272 (GRCm39)	V1058A	possibly damaging	Het
Rbbp5	T	C	1: 132,421,564 (GRCm39)	I88T	possibly damaging	Het
Rfpl4b	T	C	10: 38,697,368 (GRCm39)	R78G	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Samt2	A	T	X: 153,358,223 (GRCm39)		probably null	Het
Sdad1	T	C	5: 92,453,677 (GRCm39)	H37R	possibly damaging	Het
Setd2	T	A	9: 110,378,065 (GRCm39)	F627I	possibly damaging	Het
Slc27a1	A	G	8: 72,032,560 (GRCm39)	E191G	possibly damaging	Het
Snx18	T	C	13: 113,753,755 (GRCm39)	M393V	possibly damaging	Het
Spata31g1	A	G	4: 42,974,146 (GRCm39)	T1160A	possibly damaging	Het
Tacc1	A	G	8: 25,672,829 (GRCm39)	V42A	possibly damaging	Het
Tbc1d8	A	G	1: 39,415,983 (GRCm39)	F897L	probably damaging	Het
Tenm3	C	T	8: 48,729,693 (GRCm39)	D1438N	possibly damaging	Het
Tmem62	G	A	2: 120,837,586 (GRCm39)	G501E	probably damaging	Het
Tmem94	A	G	11: 115,687,641 (GRCm39)	K1167E	probably damaging	Het
Trap1	A	G	16: 3,886,194 (GRCm39)	S88P	probably benign	Het
Ugt2b38	T	C	5: 87,571,591 (GRCm39)	D147G	probably damaging	Het
Vmn1r168	A	T	7: 23,240,824 (GRCm39)	N227I	probably benign	Het
Vmn1r203	T	A	13: 22,709,004 (GRCm39)	S262T	possibly damaging	Het
Vmn1r204	T	G	13: 22,740,420 (GRCm39)	L17R	probably damaging	Het
Zcchc14	T	A	8: 122,330,675 (GRCm39)	Q896L	probably damaging	Het
Zfp619	A	G	7: 39,185,307 (GRCm39)	K446E	possibly damaging	Het
Zpr1	T	C	9: 46,187,490 (GRCm39)		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
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
R8515:Ski	UTSW	4	155,245,083 (GRCm39)	missense	possibly damaging	0.92
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'- GCTCTGTCAAGAAAATCTATGTGAG -3'
(R):5'- AGCTCCGTACATTTGGGTCC -3'

Sequencing Primer
(F):5'- TGTGAGTGATTACAGAAAAACACGCC -3'
(R):5'- GGCTCCTTCATAGCTGTGGAGTTAC -3'

Posted On

2014-11-12