Mutagenetix > Incidental Mutation

Incidental Mutation 'R0265:Skor2'

155854

Institutional Source

Beutler Lab

Gene Symbol

Skor2

Ensembl Gene

ENSMUSG00000091519

Gene Name

SKI family transcriptional corepressor 2

Synonyms

Gm7348, Fussel18, Corl2

MMRRC Submission

038491-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0265 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

76856405-76900342 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76876598 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 952 (E952D)

Ref Sequence

ENSEMBL: ENSMUSP00000132338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166956]

AlphaFold

A7M7C7

Predicted Effect

probably damaging
Transcript: ENSMUST00000166956
AA Change: E952D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132338
Gene: ENSMUSG00000091519
AA Change: E952D

Domain	Start	End	E-Value	Type
Pfam:Ski_Sno	25	132	2.3e-41	PFAM
c-SKI_SMAD_bind	144	236	6.92e-55	SMART
low complexity region	261	305	N/A	INTRINSIC
low complexity region	320	373	N/A	INTRINSIC
low complexity region	426	452	N/A	INTRINSIC
low complexity region	478	491	N/A	INTRINSIC
low complexity region	513	551	N/A	INTRINSIC
low complexity region	578	595	N/A	INTRINSIC
low complexity region	645	680	N/A	INTRINSIC
low complexity region	688	707	N/A	INTRINSIC
low complexity region	722	741	N/A	INTRINSIC
low complexity region	747	766	N/A	INTRINSIC
low complexity region	817	838	N/A	INTRINSIC
low complexity region	842	857	N/A	INTRINSIC

Meta Mutation Damage Score

0.1053

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.6%
20x: 92.0%

Validation Efficiency

99% (83/84)

MGI Phenotype

PHENOTYPE: Mice homozygous for null mutations display neonatal and postnatal lethality, abnormal cerebellum development, and abnormal Purkinje cell differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	T	G	14: 8,431,667	Y655S	probably damaging	Het
9330182L06Rik	T	C	5: 9,434,681	L486P	probably damaging	Het
Abca14	A	G	7: 120,223,627	I321V	probably benign	Het
Adcy7	A	G	8: 88,324,763	D837G	probably damaging	Het
Aldh1a1	T	A	19: 20,640,076	Y457*	probably null	Het
Alox5	T	C	6: 116,420,362	Y287C	probably benign	Het
Ano8	T	C	8: 71,480,524		probably benign	Het
Ap3b1	A	G	13: 94,493,681	K815E	unknown	Het
Atp11a	A	T	8: 12,856,930		probably benign	Het
Atp6v0a1	A	T	11: 101,048,515	D702V	possibly damaging	Het
Cacna1b	T	A	2: 24,761,844	N108Y	probably damaging	Het
Ccdc57	G	C	11: 120,921,811	A39G	probably benign	Het
Cdhr1	A	T	14: 37,081,376	V581D	probably benign	Het
Cyp2b23	A	G	7: 26,672,879		probably benign	Het
D430041D05Rik	G	C	2: 104,167,950	P1836R	probably damaging	Het
Ddit4l	C	T	3: 137,624,287		probably benign	Het
Dnah8	A	T	17: 30,690,271	I1024F	probably benign	Het
Edc3	T	A	9: 57,727,338	F213I	probably damaging	Het
Edrf1	G	A	7: 133,657,045	D717N	probably damaging	Het
Efna5	G	A	17: 62,651,073	P63S	probably damaging	Het
Entpd3	A	G	9: 120,558,481	Y248C	probably damaging	Het
Flcn	G	A	11: 59,795,809	Q373*	probably null	Het
Fry	T	C	5: 150,434,776	V1908A	probably damaging	Het
Gabrg3	A	T	7: 57,381,617	Y58*	probably null	Het
Gabrp	A	T	11: 33,552,614	Y417N	probably damaging	Het
Golga2	C	A	2: 32,304,952		probably null	Het
Grip2	C	A	6: 91,773,792		probably null	Het
Gsx2	A	G	5: 75,077,068	Y227C	probably damaging	Het
Hif3a	T	C	7: 17,035,868	*665W	probably null	Het
Hist1h2aa	T	C	13: 23,934,649	V63A	probably benign	Het
Hsd3b1	C	A	3: 98,852,773	V301L	probably damaging	Het
Ifitm5	T	C	7: 140,950,008		probably benign	Het
Inpp4a	A	T	1: 37,378,986	D498V	probably damaging	Het
Itga1	A	T	13: 114,992,459	D554E	probably benign	Het
Itk	G	A	11: 46,389,458		probably benign	Het
Kdm3b	T	A	18: 34,795,663		probably benign	Het
Klhl6	A	G	16: 19,948,234	V470A	probably benign	Het
Lamb3	T	A	1: 193,320,531	W95R	probably damaging	Het
Lbhd2	T	A	12: 111,410,242	I41N	probably damaging	Het
Lrp4	A	T	2: 91,490,670	S1014C	probably damaging	Het
Ltbp2	C	T	12: 84,785,969		probably null	Het
Map3k19	A	G	1: 127,822,182	I1144T	possibly damaging	Het
Mfsd10	T	C	5: 34,635,163		probably benign	Het
Mocos	A	G	18: 24,666,276	D189G	probably benign	Het
Mvb12a	T	A	8: 71,547,010	F224L	probably damaging	Het
Myo15	A	T	11: 60,514,897		probably null	Het
Nos2	A	T	11: 78,937,602	H249L	probably damaging	Het
Notum	A	G	11: 120,658,334	M184T	probably benign	Het
Nvl	C	A	1: 181,134,830	D192Y	probably damaging	Het
Olfr1024	T	A	2: 85,904,247	N269I	probably benign	Het
Olfr1065	C	A	2: 86,445,959	V8L	probably benign	Het
Olfr1308	T	C	2: 111,960,494	Y193C	probably damaging	Het
Olfr204	A	T	16: 59,315,071	F112Y	probably damaging	Het
Olfr218	A	G	1: 173,203,917	K187R	probably benign	Het
Osgin1	A	G	8: 119,445,657	I397V	possibly damaging	Het
Otulin	A	G	15: 27,616,424	V123A	probably damaging	Het
P4ha1	A	G	10: 59,348,259	Y181C	probably damaging	Het
Pcdhgc5	A	T	18: 37,821,350	D559V	probably damaging	Het
Phf2	T	C	13: 48,828,794	N151S	unknown	Het
Plxnc1	C	A	10: 94,813,129	G1263C	probably benign	Het
Rad51ap1	A	G	6: 126,924,197	*338Q	probably null	Het
Raver1	A	G	9: 21,075,659	S676P	probably benign	Het
Rfx8	T	C	1: 39,688,577	E196G	possibly damaging	Het
Rreb1	A	T	13: 37,916,155	K187*	probably null	Het
Rxfp1	T	C	3: 79,667,654	T217A	probably benign	Het
Rxra	T	C	2: 27,752,430	L305P	probably damaging	Het
Sardh	T	C	2: 27,227,066		probably benign	Het
Slc22a29	A	T	19: 8,169,970	S343T	probably benign	Het
Sorbs2	T	C	8: 45,785,337		probably benign	Het
Supt7l	C	T	5: 31,515,918	V329I	probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tac1	T	C	6: 7,559,165		probably benign	Het
Tcn2	A	T	11: 3,922,044	V361D	probably damaging	Het
Tm2d3	G	A	7: 65,697,834	A170T	possibly damaging	Het
Tnks	G	A	8: 34,839,970	R1142*	probably null	Het
Ttll7	C	A	3: 146,944,160	Y648*	probably null	Het
Umod	G	T	7: 119,466,073	Q578K	probably benign	Het
Upf2	G	A	2: 6,027,204		probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Washc5	A	G	15: 59,338,960	I1013T	probably benign	Het
Wdr60	T	C	12: 116,257,406		probably benign	Het
Zfp704	C	A	3: 9,565,157	R48L	probably damaging	Het

Other mutations in Skor2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01476:Skor2	APN	18	76858667	missense	unknown
IGL01604:Skor2	APN	18	76859951	missense	possibly damaging	0.93
IGL02306:Skor2	APN	18	76862679	missense	probably benign	0.01
IGL03287:Skor2	APN	18	76876135	missense	probably damaging	0.99
R0225:Skor2	UTSW	18	76859098	missense	unknown
R0650:Skor2	UTSW	18	76876560	missense	probably benign	0.32
R1086:Skor2	UTSW	18	76859299	missense	unknown
R1237:Skor2	UTSW	18	76876132	nonsense	probably null
R1465:Skor2	UTSW	18	76876645	splice site	probably benign
R1625:Skor2	UTSW	18	76858804	missense	unknown
R1682:Skor2	UTSW	18	76859516	missense	unknown
R1918:Skor2	UTSW	18	76859356	missense	unknown
R2878:Skor2	UTSW	18	76860724	nonsense	probably null
R3103:Skor2	UTSW	18	76859278	nonsense	probably null
R3611:Skor2	UTSW	18	76858838	missense	unknown
R3882:Skor2	UTSW	18	76862689	missense	probably damaging	0.97
R3891:Skor2	UTSW	18	76858655	missense	unknown
R4473:Skor2	UTSW	18	76859461	missense	unknown
R4720:Skor2	UTSW	18	76861183	critical splice donor site	probably null
R4828:Skor2	UTSW	18	76860418	missense	probably damaging	1.00
R4906:Skor2	UTSW	18	76860295	missense	possibly damaging	0.73
R5074:Skor2	UTSW	18	76858954	nonsense	probably null
R5486:Skor2	UTSW	18	76858700	missense	unknown
R5729:Skor2	UTSW	18	76858883	missense	unknown
R5886:Skor2	UTSW	18	76859429	missense	unknown
R6017:Skor2	UTSW	18	76858927	missense	unknown
R6514:Skor2	UTSW	18	76862694	missense	probably damaging	1.00
R6565:Skor2	UTSW	18	76859912	missense	possibly damaging	0.70
R6909:Skor2	UTSW	18	76860557	missense	possibly damaging	0.68
R7169:Skor2	UTSW	18	76860986	missense	probably benign	0.04
R7171:Skor2	UTSW	18	76860986	missense	probably benign	0.04
R7188:Skor2	UTSW	18	76859809	missense	possibly damaging	0.53
R7219:Skor2	UTSW	18	76860401	missense	possibly damaging	0.96
R7548:Skor2	UTSW	18	76860905	missense	possibly damaging	0.82
R7722:Skor2	UTSW	18	76862644	missense	probably benign	0.09
R7923:Skor2	UTSW	18	76858721	missense	unknown
R8125:Skor2	UTSW	18	76859678	missense	unknown
R8255:Skor2	UTSW	18	76858969	missense	unknown
R8531:Skor2	UTSW	18	76858874	missense	unknown
R8548:Skor2	UTSW	18	76858886	missense	unknown
R8917:Skor2	UTSW	18	76860809	missense	probably damaging	1.00
R9423:Skor2	UTSW	18	76860605	missense	probably damaging	0.99
R9445:Skor2	UTSW	18	76861116	missense	possibly damaging	0.94
R9562:Skor2	UTSW	18	76858681	missense	unknown
R9563:Skor2	UTSW	18	76858681	missense	unknown
R9564:Skor2	UTSW	18	76858681	missense	unknown
R9565:Skor2	UTSW	18	76858681	missense	unknown
R9673:Skor2	UTSW	18	76858681	missense	unknown
RF015:Skor2	UTSW	18	76860788	missense	probably damaging	0.99
Z1176:Skor2	UTSW	18	76860124	missense	probably benign	0.15
Z1176:Skor2	UTSW	18	76860670	missense	possibly damaging	0.93
Z1176:Skor2	UTSW	18	76861161	missense	probably damaging	0.99
Z1177:Skor2	UTSW	18	76876093	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGAAACCAATTCACCTCATTCGCTCA -3'
(R):5'- TGCACATACACTGGCTGCTACTCATA -3'

Sequencing Primer
(F):5'- CCTCATTCGCTCAAAAAGGATGTAG -3'
(R):5'- AGCACAGATAAGAGATTATTAACGTG -3'

Posted On

2014-02-10