Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02423:Ski'

292750

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 #

IGL02423

Quality Score

Status

Chromosome

Chromosomal Location

155238532-155306992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155244191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 478 (D478G)

Ref Sequence

ENSEMBL: ENSMUSP00000030917 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030917
AA Change: D478G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030917
Gene: ENSMUSG00000029050
AA Change: D478G

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

possibly damaging
Transcript: ENSMUST00000084103
AA Change: D426G

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000081120
Gene: ENSMUSG00000029050
AA Change: D426G

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abca6	A	G	11: 110,109,832 (GRCm39)		probably benign	Het
Adarb2	A	T	13: 8,619,756 (GRCm39)	R81W	probably damaging	Het
Adgrf4	T	C	17: 42,983,467 (GRCm39)	I72V	probably benign	Het
Banp	A	G	8: 122,733,830 (GRCm39)	I360V	probably benign	Het
Bmp8a	C	A	4: 123,210,220 (GRCm39)	G289C	possibly damaging	Het
Car3	A	T	3: 14,931,911 (GRCm39)	H94L	probably damaging	Het
Ccdc137	G	A	11: 120,350,927 (GRCm39)	R108H	possibly damaging	Het
Cdk14	T	C	5: 4,938,905 (GRCm39)	N411S	probably benign	Het
Col4a2	A	G	8: 11,483,800 (GRCm39)	M907V	probably benign	Het
Cyp4f17	T	A	17: 32,725,923 (GRCm39)	W19R	possibly damaging	Het
Dmxl2	A	G	9: 54,301,032 (GRCm39)	S2360P	possibly damaging	Het
Eif2d	T	G	1: 131,081,097 (GRCm39)		probably benign	Het
Epx	A	G	11: 87,762,144 (GRCm39)	I369T	possibly damaging	Het
Fcgbp	A	G	7: 27,789,378 (GRCm39)	E648G	probably benign	Het
Fer1l4	G	A	2: 155,894,827 (GRCm39)	P14L	probably benign	Het
Folr1	A	G	7: 101,507,732 (GRCm39)	F236S	probably benign	Het
Foxj2	T	G	6: 122,819,732 (GRCm39)	M540R	possibly damaging	Het
Gtf2h1	A	G	7: 46,464,824 (GRCm39)	T420A	probably benign	Het
H2-T3	T	A	17: 36,498,248 (GRCm39)	T222S	probably damaging	Het
Ice1	A	T	13: 70,740,718 (GRCm39)	M2163K	probably damaging	Het
Inppl1	A	G	7: 101,481,450 (GRCm39)	V244A	probably benign	Het
Kansl3	A	T	1: 36,391,050 (GRCm39)	V373D	probably damaging	Het
Kdm3a	A	G	6: 71,590,987 (GRCm39)		probably benign	Het
Krtap1-3	A	T	11: 99,481,680 (GRCm39)	C156S	unknown	Het
Mab21l3	T	C	3: 101,726,045 (GRCm39)	D317G	probably damaging	Het
Nherf1	A	G	11: 115,054,539 (GRCm39)		probably null	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nxn	A	T	11: 76,164,858 (GRCm39)	S218T	probably benign	Het
Or5h22	A	T	16: 58,894,630 (GRCm39)	I271K	probably benign	Het
Or6c35	G	A	10: 129,169,397 (GRCm39)	V216I	probably benign	Het
Pcdhb13	T	C	18: 37,577,392 (GRCm39)	V590A	possibly damaging	Het
Pim3	T	C	15: 88,747,734 (GRCm39)	V200A	probably benign	Het
Plekha3	T	C	2: 76,510,524 (GRCm39)	F20L	probably damaging	Het
Pmp22	G	T	11: 63,049,118 (GRCm39)	R120S	possibly damaging	Het
Ppp1r9a	A	C	6: 4,906,537 (GRCm39)	D364A	probably benign	Het
Psd	A	G	19: 46,302,943 (GRCm39)	F155L	possibly damaging	Het
Rbm22	T	C	18: 60,704,891 (GRCm39)		probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Ryr2	A	T	13: 11,760,084 (GRCm39)	F1556I	probably damaging	Het
Scap	G	A	9: 110,207,685 (GRCm39)	A465T	probably benign	Het
Sdf2	A	G	11: 78,141,844 (GRCm39)	S60G	probably damaging	Het
Sema3a	T	C	5: 13,615,776 (GRCm39)	I400T	probably damaging	Het
Slc12a7	A	T	13: 73,911,882 (GRCm39)		probably benign	Het
Sned1	A	G	1: 93,211,322 (GRCm39)	T1074A	probably benign	Het
Srebf2	A	G	15: 82,059,298 (GRCm39)	T239A	probably damaging	Het
Stk4	C	T	2: 163,928,419 (GRCm39)	H84Y	probably benign	Het
Syne1	G	T	10: 5,318,295 (GRCm39)	Q444K	probably benign	Het
Tecpr1	T	A	5: 144,140,305 (GRCm39)	I817F	possibly damaging	Het
Tep1	G	T	14: 51,082,077 (GRCm39)	Q1159K	possibly damaging	Het
Tmem39b	G	A	4: 129,572,442 (GRCm39)	H387Y	probably damaging	Het
Tpp1	T	C	7: 105,398,907 (GRCm39)	H174R	probably damaging	Het
Ttn	C	T	2: 76,535,617 (GRCm39)	V35134I	probably benign	Het
Usp34	A	G	11: 23,304,900 (GRCm39)	I378V	probably benign	Het
Vinac1	T	C	2: 128,889,968 (GRCm39)	E42G	probably benign	Het
Vmn2r1	T	A	3: 63,997,665 (GRCm39)	H440Q	probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Zcchc7	T	A	4: 44,931,244 (GRCm39)	D144E	possibly damaging	Het
Zic4	C	A	9: 91,266,228 (GRCm39)	H284N	probably damaging	Het
Zkscan6	A	G	11: 65,719,120 (GRCm39)	H380R	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
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
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

2015-04-16