Mutagenetix > Incidental Mutation

Incidental Mutation 'R8976:Ski'

683428

Institutional Source

Beutler Lab

Gene Symbol

Ski

Ensembl Gene

ENSMUSG00000029050

Gene Name

ski sarcoma viral oncogene homolog (avian)

Synonyms

2310012I02Rik, 2610001A11Rik

MMRRC Submission

068810-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8976 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155238532-155306992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155242411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 663 (S663P)

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: S663P

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

SMART Domains

Protein: ENSMUSP00000030917
Gene: ENSMUSG00000029050
AA Change: S663P

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 damaging
Transcript: ENSMUST00000084103
AA Change: S611P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081120
Gene: ENSMUSG00000029050
AA Change: S611P

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: 99.5%
20x: 98.4%

Validation Efficiency

98% (60/61)

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
Arhgef11	A	G	3: 87,635,321 (GRCm39)	I906V	probably benign	Het
Atad2b	T	A	12: 4,967,923 (GRCm39)		probably null	Het
Atr	T	A	9: 95,772,819 (GRCm39)	D1243E	probably benign	Het
Baiap2l1	A	T	5: 144,223,117 (GRCm39)	H73Q	probably benign	Het
Bdp1	C	A	13: 100,197,407 (GRCm39)	G993*	probably null	Het
Cacna2d4	A	T	6: 119,315,118 (GRCm39)	I883F	possibly damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Crem	A	G	18: 3,268,088 (GRCm39)	V80A	possibly damaging	Het
Cyp2j9	T	C	4: 96,479,399 (GRCm39)	K62E	probably benign	Het
Dnah17	T	A	11: 117,917,666 (GRCm39)	I4132F	probably damaging	Het
Dnm3	G	A	1: 162,135,505 (GRCm39)	P423S	probably damaging	Het
Dop1b	G	T	16: 93,558,969 (GRCm39)	V572L	probably benign	Het
F12	T	A	13: 55,569,777 (GRCm39)		probably benign	Het
F2	A	G	2: 91,466,738 (GRCm39)	S2P	probably benign	Het
Fam171a2	T	C	11: 102,329,451 (GRCm39)	E436G	possibly damaging	Het
Fat1	T	C	8: 45,484,332 (GRCm39)	V3190A	probably benign	Het
Flnb	A	T	14: 7,901,882 (GRCm38)		probably null	Het
Frs3	A	T	17: 48,009,546 (GRCm39)	D9V	probably benign	Het
Galnt17	T	G	5: 130,935,543 (GRCm39)	E380A	probably benign	Het
Glrb	A	C	3: 80,758,363 (GRCm39)	V350G	probably damaging	Het
Helz2	T	A	2: 180,876,486 (GRCm39)	K1336M	possibly damaging	Het
Ifnlr1	T	A	4: 135,428,650 (GRCm39)	V159E	probably damaging	Het
Igf2r	T	C	17: 12,945,659 (GRCm39)	E310G	probably damaging	Het
Il2rb	C	T	15: 78,370,681 (GRCm39)	D145N	probably benign	Het
Iqcb1	A	G	16: 36,692,005 (GRCm39)	I535V	probably benign	Het
Keap1	A	C	9: 21,142,663 (GRCm39)	L531V	probably damaging	Het
Lrrc8d	T	A	5: 105,960,957 (GRCm39)	W456R	probably damaging	Het
Med12l	T	A	3: 59,183,329 (GRCm39)	H1910Q	probably damaging	Het
Mybphl	G	A	3: 108,272,334 (GRCm39)	E8K	probably damaging	Het
Odad3	T	A	9: 21,903,334 (GRCm39)		probably benign	Het
Olig2	A	G	16: 91,023,363 (GRCm39)	S26G	probably benign	Het
Or10a4	T	C	7: 106,697,466 (GRCm39)	S265P	possibly damaging	Het
Or5p73	T	A	7: 108,064,630 (GRCm39)	I33N	possibly damaging	Het
Or6f2	T	C	7: 139,756,885 (GRCm39)	V284A	probably damaging	Het
Or7a38	T	C	10: 78,753,418 (GRCm39)	I248T	possibly damaging	Het
Or7g22	T	A	9: 19,049,141 (GRCm39)	M284K	probably damaging	Het
Pcdhb22	G	A	18: 37,651,396 (GRCm39)		probably benign	Het
Plekha8	A	T	6: 54,607,521 (GRCm39)	E376V	probably damaging	Het
Polr2a	A	G	11: 69,638,037 (GRCm39)	V144A	possibly damaging	Het
Pramel34	T	A	5: 93,785,977 (GRCm39)	N101I	probably damaging	Het
Prr18	T	C	17: 8,560,047 (GRCm39)	S68P	probably damaging	Het
Ptprk	G	A	10: 28,461,669 (GRCm39)	R1153H	probably damaging	Het
Pus1	A	G	5: 110,922,789 (GRCm39)	F293L	possibly damaging	Het
Shank3	A	G	15: 89,442,381 (GRCm39)	E1758G	probably damaging	Het
Ska3	A	T	14: 58,057,851 (GRCm39)	I167N	probably damaging	Het
Slc49a3	A	C	5: 108,589,897 (GRCm39)	S502A	probably benign	Het
Spa17	C	T	9: 37,523,254 (GRCm39)	R11Q	possibly damaging	Het
Spag5	T	C	11: 78,195,413 (GRCm39)	V240A	probably benign	Het
Srl	A	T	16: 4,300,894 (GRCm39)	Y726N	probably damaging	Het
Ssbp4	A	T	8: 71,052,336 (GRCm39)		probably null	Het
Surf1	A	T	2: 26,805,767 (GRCm39)	C48S	probably benign	Het
Tigd3	G	A	19: 5,941,853 (GRCm39)	P426S	probably benign	Het
Tmem176b	A	G	6: 48,812,600 (GRCm39)	S122P	probably damaging	Het
Trim23	G	T	13: 104,328,545 (GRCm39)	L355F	probably damaging	Het
Ttn	G	A	2: 76,545,110 (GRCm39)	T32664M	probably damaging	Het
Ulk3	T	A	9: 57,502,220 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,511,169 (GRCm39)	H59R	possibly damaging	Het
Vmn1r19	A	G	6: 57,381,719 (GRCm39)	I91V	probably benign	Het
Vmn2r10	T	A	5: 109,145,479 (GRCm39)	N543Y	probably damaging	Het
Zbtb14	G	A	17: 69,694,752 (GRCm39)	R150H	possibly damaging	Het
Zfp831	T	C	2: 174,487,079 (GRCm39)	Y585H	possibly 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
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
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'- TGGCTATGGAAAATAGTCCCC -3'
(R):5'- TAGAATTCTTGCGTGTGGCC -3'

Sequencing Primer
(F):5'- GCTATGGAAAATAGTCCCCAGCAC -3'
(R):5'- AATTCTTGCGTGTGGCCAAGAAG -3'

Posted On

2021-10-11