Mutagenetix > Incidental Mutation

Incidental Mutation 'R9005:Ski'

685200

Institutional Source

Beutler Lab

Gene Symbol

Ski

Ensembl Gene

ENSMUSG00000029050

Gene Name

ski sarcoma viral oncogene homolog (avian)

Synonyms

2310012I02Rik, 2610001A11Rik

MMRRC Submission

068835-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9005 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155238532-155306992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155306317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 221 (Y221N)

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: Y221N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030917
Gene: ENSMUSG00000029050
AA Change: Y221N

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: Y169N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081120
Gene: ENSMUSG00000029050
AA Change: Y169N

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: 98.9%

Validation Efficiency

99% (80/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	C	T	19: 21,630,075 (GRCm39)		probably benign	Het
Abcd4	C	T	12: 84,655,356 (GRCm39)	W369*	probably null	Het
Abcf3	A	G	16: 20,368,056 (GRCm39)	E98G	probably benign	Het
Acaca	A	T	11: 84,262,410 (GRCm39)	D2004V	probably damaging	Het
Acot5	G	C	12: 84,116,630 (GRCm39)	M130I		Het
Adamts3	C	T	5: 89,825,693 (GRCm39)	E1049K	probably benign	Het
Agfg2	A	T	5: 137,650,744 (GRCm39)	L456Q	probably damaging	Het
Agtr1b	T	A	3: 20,370,343 (GRCm39)	T88S	possibly damaging	Het
Amer2	G	C	14: 60,617,376 (GRCm39)	D524H	probably damaging	Het
Ankrd61	T	A	5: 143,831,676 (GRCm39)	T43S	probably benign	Het
Apcs	A	G	1: 172,721,776 (GRCm39)	L190P	probably benign	Het
Arsg	A	G	11: 109,381,346 (GRCm39)	K30E	probably benign	Het
Banp	A	T	8: 122,705,441 (GRCm39)	M104L	possibly damaging	Het
Caskin1	A	G	17: 24,718,111 (GRCm39)	Q268R	probably benign	Het
Ccdc112	A	G	18: 46,429,455 (GRCm39)	V81A	probably damaging	Het
Cfap44	T	C	16: 44,280,517 (GRCm39)	I1432T	probably damaging	Het
Chd2	A	T	7: 73,134,294 (GRCm39)	N684K	probably damaging	Het
Creb1	T	C	1: 64,605,478 (GRCm39)		probably null	Het
Ctsc	C	T	7: 87,927,502 (GRCm39)	T31I	probably damaging	Het
Cttnbp2	C	A	6: 18,434,430 (GRCm39)	R476L	probably damaging	Het
Cwf19l1	T	C	19: 44,111,653 (GRCm39)	D260G	possibly damaging	Het
Cyp24a1	A	T	2: 170,336,005 (GRCm39)	S211T	probably damaging	Het
Ddx3y	T	C	Y: 1,282,919 (GRCm39)	N46D	probably damaging	Het
Dgkz	G	T	2: 91,769,090 (GRCm39)	H653Q	probably benign	Het
Dnajc16	A	T	4: 141,491,945 (GRCm39)	I626N	possibly damaging	Het
Dsc2	T	C	18: 20,171,151 (GRCm39)	D616G	probably benign	Het
Dscam	A	T	16: 96,602,580 (GRCm39)	S621T	probably damaging	Het
Dst	T	A	1: 34,267,774 (GRCm39)	V3058E	probably damaging	Het
Ep400	A	T	5: 110,858,959 (GRCm39)	C1125S	unknown	Het
Glyatl3	G	A	17: 41,223,619 (GRCm39)	Q41*	probably null	Het
Gm7694	T	G	1: 170,128,927 (GRCm39)	I201L	probably damaging	Het
Gnal	C	T	18: 67,221,830 (GRCm39)	R78*	probably null	Het
Gtf3c1	T	C	7: 125,303,069 (GRCm39)	D122G	probably benign	Het
Htt	G	T	5: 34,975,095 (GRCm39)	D622Y	possibly damaging	Het
Igkv4-92	A	G	6: 68,732,081 (GRCm39)	C98R	probably benign	Het
Incenp	G	A	19: 9,855,088 (GRCm39)	R608*	probably null	Het
Kics2	A	G	10: 121,586,501 (GRCm39)	Y272C	probably damaging	Het
Kif3c	G	A	12: 3,451,706 (GRCm39)	R679H	probably damaging	Het
Kng1	T	A	16: 22,898,146 (GRCm39)	H515Q	probably damaging	Het
Lamb2	T	C	9: 108,361,370 (GRCm39)		probably null	Het
Malrd1	A	T	2: 15,850,140 (GRCm39)	N1253I	unknown	Het
Map3k21	A	T	8: 126,637,471 (GRCm39)	D19V		Het
Marchf2	G	T	17: 33,915,207 (GRCm39)	P129Q	probably damaging	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Ms4a4d	T	A	19: 11,533,564 (GRCm39)	D148E	possibly damaging	Het
Myl4	A	G	11: 104,468,384 (GRCm39)	D36G	probably damaging	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or2a25	T	C	6: 42,889,170 (GRCm39)	S238P	probably damaging	Het
Or5ac24	A	T	16: 59,165,929 (GRCm39)	I45N	probably damaging	Het
Or5an11	A	G	19: 12,245,704 (GRCm39)	T37A	probably benign	Het
Pard3	G	A	8: 128,003,647 (GRCm39)	S123N	probably damaging	Het
Parp8	T	C	13: 117,013,126 (GRCm39)	N638D	probably benign	Het
Pgpep1l	A	T	7: 67,887,406 (GRCm39)	S65T	probably damaging	Het
Ppp1r13b	A	G	12: 111,796,708 (GRCm39)	V1068A	probably benign	Het
Pramel20	G	A	4: 143,298,425 (GRCm39)	D123N	probably benign	Het
Prkd1	G	A	12: 50,430,185 (GRCm39)	Q641*	probably null	Het
Ptgr2	T	C	12: 84,344,873 (GRCm39)	V82A	possibly damaging	Het
Rbm34	G	A	8: 127,686,332 (GRCm39)	P225S	possibly damaging	Het
Rnps1	A	T	17: 24,637,496 (GRCm39)	K46I	unknown	Het
Shank1	T	C	7: 44,002,409 (GRCm39)	V1376A	probably benign	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Slit2	G	A	5: 48,459,860 (GRCm39)	C1380Y	possibly damaging	Het
Smpd3	C	T	8: 106,984,058 (GRCm39)	G554S	probably benign	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Spdl1	C	A	11: 34,700,535 (GRCm39)	C605F	possibly damaging	Het
Syne1	C	A	10: 5,155,406 (GRCm39)	D5568Y	probably benign	Het
Tac1	C	A	6: 7,559,141 (GRCm39)	A111D	possibly damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tnfrsf1a	T	C	6: 125,333,878 (GRCm39)	C44R	probably damaging	Het
Traf3ip3	T	C	1: 192,864,285 (GRCm39)	Q366R	probably benign	Het
Trip10	A	G	17: 57,569,416 (GRCm39)	D479G	probably damaging	Het
Trip11	T	C	12: 101,845,131 (GRCm39)	T1536A	probably benign	Het
Tstd3	G	T	4: 21,767,082 (GRCm39)	A13E	possibly damaging	Het
Urb1	T	C	16: 90,550,678 (GRCm39)	K2058R	probably benign	Het
Usp15	A	T	10: 122,982,703 (GRCm39)	I304N	possibly damaging	Het
Usp18	T	G	6: 121,229,529 (GRCm39)	H49Q	probably benign	Het
Vmn1r56	T	A	7: 5,199,389 (GRCm39)	D76V	probably damaging	Het
Wnk1	A	G	6: 119,939,393 (GRCm39)	S167P	probably damaging	Het
Zfp229	G	A	17: 21,965,731 (GRCm39)	A654T	possibly damaging	Het
Zfp977	C	T	7: 42,230,082 (GRCm39)	V148I	probably benign	Het
Znfx1	A	T	2: 166,880,656 (GRCm39)	I1240N		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
R8976:Ski	UTSW	4	155,242,411 (GRCm39)	missense	probably damaging	0.99
R9762:Ski	UTSW	4	155,244,344 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTCGAACTTCTCCTTCACG -3'
(R):5'- TCAAAGTCATGGGCATCCTG -3'

Sequencing Primer
(F):5'- TCCTGGCTCAGCAGGATGTAG -3'
(R):5'- GCATCCTGCCCTTCTCCG -3'

Posted On

2021-10-11