Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03378:Ski'

420587

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ski

Ensembl Gene

ENSMUSG00000029050

Gene Name

ski sarcoma viral oncogene homolog (avian)

Synonyms

2310012I02Rik, 2610001A11Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03378

Quality Score

Status

Chromosome

Chromosomal Location

155238532-155306992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155245329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 300 (S300P)

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: S352P

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

SMART Domains

Protein: ENSMUSP00000030917
Gene: ENSMUSG00000029050
AA Change: S352P

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: S300P

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

SMART Domains

Protein: ENSMUSP00000081120
Gene: ENSMUSG00000029050
AA Change: S300P

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

Coding Region Coverage

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430069I07Rik	T	A	15: 34,355,778 (GRCm39)	I261N	probably benign	Het
Bace1	T	A	9: 45,770,199 (GRCm39)		probably null	Het
Caprin2	G	T	6: 148,779,352 (GRCm39)	Q152K	probably benign	Het
Cdh16	C	T	8: 105,345,917 (GRCm39)	D285N	probably benign	Het
Cnnm2	G	A	19: 46,866,473 (GRCm39)	A874T	possibly damaging	Het
Dhx38	A	T	8: 110,285,722 (GRCm39)		probably null	Het
Dnhd1	A	C	7: 105,362,940 (GRCm39)	E3834A	possibly damaging	Het
Erc2	A	C	14: 27,733,680 (GRCm39)	S585R	probably damaging	Het
Gli3	A	G	13: 15,819,005 (GRCm39)	E269G	probably damaging	Het
Gpr161	T	C	1: 165,138,077 (GRCm39)	L204P	probably damaging	Het
Hp	A	G	8: 110,302,339 (GRCm39)	V203A	probably damaging	Het
Krtap6-5	A	T	16: 88,844,677 (GRCm39)	C19S	unknown	Het
Lce1i	A	T	3: 92,685,033 (GRCm39)	S48T	unknown	Het
Lrp2	A	T	2: 69,261,496 (GRCm39)	S4482T	probably damaging	Het
Mpdz	A	T	4: 81,337,285 (GRCm39)		probably benign	Het
Or1q1	T	C	2: 36,886,915 (GRCm39)	F31S	probably damaging	Het
Or4c100	T	A	2: 88,356,498 (GRCm39)	Y190*	probably null	Het
Or8k18	T	A	2: 86,085,363 (GRCm39)	I225L	possibly damaging	Het
Papola	G	T	12: 105,775,692 (GRCm39)		probably null	Het
Prss23	T	C	7: 89,159,352 (GRCm39)	D239G	probably damaging	Het
Setd2	A	G	9: 110,382,220 (GRCm39)	T83A	unknown	Het
Sh3pxd2b	T	G	11: 32,331,443 (GRCm39)	L56V	probably damaging	Het
Srebf2	T	C	15: 82,053,989 (GRCm39)	S17P	probably damaging	Het
Svs5	C	A	2: 164,175,260 (GRCm39)	H37Q	probably benign	Het
Tbx21	A	G	11: 97,005,567 (GRCm39)	S133P	probably benign	Het
Tgfbr3	G	T	5: 107,257,568 (GRCm39)	S830R	probably damaging	Het
Thsd1	A	T	8: 22,733,794 (GRCm39)	K280N	probably benign	Het
Tnfrsf13c	T	A	15: 82,108,513 (GRCm39)	M1L	probably benign	Het
Ttll7	T	C	3: 146,615,408 (GRCm39)	F291L	probably benign	Het
Ttn	A	G	2: 76,599,907 (GRCm39)	V10762A	probably damaging	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
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
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

Posted On

2016-08-02