Mutagenetix > Incidental Mutation

Incidental Mutation 'R1581:Skor1'

171415

Institutional Source

Beutler Lab

Gene Symbol

Skor1

Ensembl Gene

ENSMUSG00000022245

Gene Name

SKI family transcriptional corepressor 1

Synonyms

Corl1, Lbxcor1, C230094B15Rik

MMRRC Submission

039618-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.497) question?

Stock #

R1581 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

63045452-63056243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63053505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 127 (T127A)

Ref Sequence

ENSEMBL: ENSMUSP00000113924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055281] [ENSMUST00000116613] [ENSMUST00000119146]

AlphaFold

Q8BX46

Predicted Effect

probably damaging
Transcript: ENSMUST00000055281
AA Change: T155A

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

SMART Domains

Protein: ENSMUSP00000055037
Gene: ENSMUSG00000022245
AA Change: T155A

Domain	Start	End	E-Value	Type
Pfam:Ski_Sno	61	168	3.2e-41	PFAM
c-SKI_SMAD_bind	180	272	2.48e-56	SMART
low complexity region	284	312	N/A	INTRINSIC
low complexity region	333	342	N/A	INTRINSIC
low complexity region	345	366	N/A	INTRINSIC
low complexity region	379	398	N/A	INTRINSIC
low complexity region	414	454	N/A	INTRINSIC
low complexity region	465	479	N/A	INTRINSIC
low complexity region	502	525	N/A	INTRINSIC
low complexity region	568	582	N/A	INTRINSIC
low complexity region	616	630	N/A	INTRINSIC
low complexity region	684	696	N/A	INTRINSIC
low complexity region	715	728	N/A	INTRINSIC
SCOP:d1eq1a_	850	937	1e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000116613
AA Change: T116A

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

SMART Domains

Protein: ENSMUSP00000112312
Gene: ENSMUSG00000022245
AA Change: T116A

Domain	Start	End	E-Value	Type
Pfam:Ski_Sno	17	130	3.5e-42	PFAM
c-SKI_SMAD_bind	141	233	2.48e-56	SMART
low complexity region	245	273	N/A	INTRINSIC
low complexity region	294	303	N/A	INTRINSIC
low complexity region	306	327	N/A	INTRINSIC
low complexity region	340	359	N/A	INTRINSIC
low complexity region	375	415	N/A	INTRINSIC
low complexity region	426	440	N/A	INTRINSIC
low complexity region	463	486	N/A	INTRINSIC
low complexity region	529	543	N/A	INTRINSIC
low complexity region	577	591	N/A	INTRINSIC
low complexity region	645	657	N/A	INTRINSIC
low complexity region	676	689	N/A	INTRINSIC
SCOP:d1eq1a_	811	898	1e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119146
AA Change: T127A

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

SMART Domains

Protein: ENSMUSP00000113924
Gene: ENSMUSG00000022245
AA Change: T127A

Domain	Start	End	E-Value	Type
Pfam:Ski_Sno	28	141	3e-42	PFAM
c-SKI_SMAD_bind	152	244	2.48e-56	SMART
low complexity region	256	284	N/A	INTRINSIC
low complexity region	305	314	N/A	INTRINSIC
low complexity region	317	338	N/A	INTRINSIC
low complexity region	351	370	N/A	INTRINSIC
low complexity region	386	426	N/A	INTRINSIC
low complexity region	437	451	N/A	INTRINSIC
low complexity region	474	497	N/A	INTRINSIC
low complexity region	540	554	N/A	INTRINSIC
low complexity region	588	602	N/A	INTRINSIC
low complexity region	656	668	N/A	INTRINSIC
low complexity region	687	700	N/A	INTRINSIC
SCOP:d1eq1a_	822	909	1e-5	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,063,347 (GRCm39)	E447G	probably benign	Het
Actn4	T	C	7: 28,598,071 (GRCm39)	T510A	probably benign	Het
Adgrb3	A	G	1: 25,133,153 (GRCm39)	M1311T	possibly damaging	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bicdl1	G	T	5: 115,789,326 (GRCm39)		probably benign	Het
Bmyc	T	C	2: 25,597,346 (GRCm39)	S137P	probably damaging	Het
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Casc3	C	T	11: 98,713,644 (GRCm39)	T292I	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cibar1	T	A	4: 12,155,745 (GRCm39)		probably null	Het
Cnnm2	A	G	19: 46,751,562 (GRCm39)	T451A	probably damaging	Het
Eed	T	C	7: 89,629,676 (GRCm39)	K20E	possibly damaging	Het
Eps15	T	A	4: 109,220,383 (GRCm39)	M180K	probably benign	Het
Esr1	T	C	10: 4,947,905 (GRCm39)	I486T	probably damaging	Het
Etnppl	A	G	3: 130,422,393 (GRCm39)	I207V	possibly damaging	Het
Fancg	G	A	4: 43,007,039 (GRCm39)	P246L	probably damaging	Het
Fcrl1	G	A	3: 87,293,030 (GRCm39)	C249Y	possibly damaging	Het
Foxred2	A	G	15: 77,839,961 (GRCm39)	F110L	possibly damaging	Het
Fsip2	A	T	2: 82,816,626 (GRCm39)	N4120Y	probably damaging	Het
Gm4884	C	T	7: 40,693,255 (GRCm39)	S408L	probably benign	Het
Gm9476	T	C	10: 100,142,474 (GRCm39)		noncoding transcript	Het
Gria1	T	C	11: 57,127,836 (GRCm39)		probably null	Het
H6pd	T	A	4: 150,066,971 (GRCm39)	I472F	possibly damaging	Het
Hydin	A	T	8: 111,137,092 (GRCm39)	M632L	probably benign	Het
Hyou1	C	T	9: 44,300,167 (GRCm39)	P819S	probably damaging	Het
Il6st	A	G	13: 112,618,075 (GRCm39)	E163G	probably damaging	Het
Kcnk1	T	C	8: 126,722,278 (GRCm39)	V27A	possibly damaging	Het
Kdelr3	T	C	15: 79,407,114 (GRCm39)		probably null	Het
Klk1b22	A	G	7: 43,765,399 (GRCm39)	N117S	possibly damaging	Het
Klrh1	T	C	6: 129,752,796 (GRCm39)	D3G	probably benign	Het
Lpp	C	A	16: 24,500,591 (GRCm39)	C134*	probably null	Het
Lrrc37a	G	A	11: 103,347,843 (GRCm39)	R2951*	probably null	Het
Luzp2	T	A	7: 54,899,238 (GRCm39)	D285E	possibly damaging	Het
Ly75	C	T	2: 60,158,237 (GRCm39)	R1016H	probably damaging	Het
Mesp2	T	A	7: 79,462,289 (GRCm39)	S282T	possibly damaging	Het
Nav3	T	C	10: 109,659,289 (GRCm39)	D776G	probably damaging	Het
Nr2e1	T	C	10: 42,443,964 (GRCm39)	T253A	probably benign	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Or1r1	A	T	11: 73,875,347 (GRCm39)	L29H	probably damaging	Het
Padi6	T	C	4: 140,463,147 (GRCm39)	Y146C	probably damaging	Het
Pank4	C	T	4: 155,059,108 (GRCm39)	R414W	probably damaging	Het
Pclo	T	G	5: 14,571,296 (GRCm39)	I227S	probably benign	Het
Plppr4	A	G	3: 117,121,915 (GRCm39)	V221A	possibly damaging	Het
Pradc1	G	A	6: 85,425,568 (GRCm39)	R25C	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rnd2	A	G	11: 101,362,022 (GRCm39)	T192A	probably benign	Het
Rtbdn	A	G	8: 85,681,695 (GRCm39)	E131G	probably benign	Het
Ryr2	A	G	13: 11,809,449 (GRCm39)	V792A	probably benign	Het
Sacs	G	T	14: 61,451,128 (GRCm39)	Q4391H	probably damaging	Het
Scd2	A	G	19: 44,286,538 (GRCm39)	S123G	probably benign	Het
Septin9	A	G	11: 117,181,421 (GRCm39)	R74G	probably damaging	Het
Sipa1l2	T	A	8: 126,218,356 (GRCm39)	Q327L	probably damaging	Het
Sphk2	A	G	7: 45,362,920 (GRCm39)	V57A	probably damaging	Het
Tfec	A	T	6: 16,844,243 (GRCm39)	D101E	probably damaging	Het
Tmem43	T	A	6: 91,455,717 (GRCm39)	H109Q	probably benign	Het
Tmem67	C	A	4: 12,047,814 (GRCm39)	S839I	probably damaging	Het
Trpv5	T	C	6: 41,630,074 (GRCm39)	Y672C	probably damaging	Het
Ttc39d	A	C	17: 80,523,913 (GRCm39)	S191R	probably benign	Het
Ttll1	C	T	15: 83,380,478 (GRCm39)	V296M	probably damaging	Het
Upp2	A	C	2: 58,664,177 (GRCm39)	K130T	possibly damaging	Het
Vmn2r5	A	G	3: 64,398,640 (GRCm39)	C780R	probably damaging	Het
Wars1	C	A	12: 108,841,635 (GRCm39)	E171*	probably null	Het
Zeb2	A	T	2: 44,887,012 (GRCm39)	S637T	probably damaging	Het
Zfp27	T	A	7: 29,595,549 (GRCm39)	T139S	possibly damaging	Het
Zfp941	A	T	7: 140,392,033 (GRCm39)	L442Q	probably benign	Het

Other mutations in Skor1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Skor1	APN	9	63,053,723 (GRCm39)	missense	probably damaging	1.00
IGL00736:Skor1	APN	9	63,046,820 (GRCm39)	missense	probably damaging	0.99
IGL01344:Skor1	APN	9	63,049,560 (GRCm39)	missense	possibly damaging	0.79
IGL01383:Skor1	APN	9	63,053,838 (GRCm39)	missense	probably benign	0.12
IGL01456:Skor1	APN	9	63,052,772 (GRCm39)	missense	probably damaging	1.00
IGL02503:Skor1	APN	9	63,053,397 (GRCm39)	missense	probably damaging	1.00
IGL02526:Skor1	APN	9	63,053,159 (GRCm39)	missense	probably damaging	1.00
IGL02699:Skor1	APN	9	63,047,328 (GRCm39)	splice site	probably benign
R0041:Skor1	UTSW	9	63,053,133 (GRCm39)	missense	probably damaging	1.00
R0092:Skor1	UTSW	9	63,053,277 (GRCm39)	missense	probably damaging	1.00
R1464:Skor1	UTSW	9	63,047,393 (GRCm39)	missense	possibly damaging	0.54
R1464:Skor1	UTSW	9	63,047,393 (GRCm39)	missense	possibly damaging	0.54
R1598:Skor1	UTSW	9	63,053,286 (GRCm39)	missense	probably damaging	1.00
R2172:Skor1	UTSW	9	63,052,404 (GRCm39)	missense	possibly damaging	0.84
R3734:Skor1	UTSW	9	63,047,350 (GRCm39)	missense	probably damaging	1.00
R3803:Skor1	UTSW	9	63,052,868 (GRCm39)	missense	probably benign	0.06
R3839:Skor1	UTSW	9	63,051,730 (GRCm39)	missense	probably damaging	0.97
R4627:Skor1	UTSW	9	63,052,758 (GRCm39)	missense	probably damaging	1.00
R4698:Skor1	UTSW	9	63,051,830 (GRCm39)	missense	probably benign
R4712:Skor1	UTSW	9	63,046,855 (GRCm39)	splice site	probably null
R4781:Skor1	UTSW	9	63,051,741 (GRCm39)	missense	probably benign
R5089:Skor1	UTSW	9	63,053,205 (GRCm39)	missense	probably damaging	0.99
R5735:Skor1	UTSW	9	63,053,346 (GRCm39)	missense	probably damaging	1.00
R6279:Skor1	UTSW	9	63,052,596 (GRCm39)	missense	probably damaging	0.99
R6300:Skor1	UTSW	9	63,052,596 (GRCm39)	missense	probably damaging	0.99
R6396:Skor1	UTSW	9	63,052,232 (GRCm39)	missense	probably damaging	1.00
R6791:Skor1	UTSW	9	63,047,636 (GRCm39)	splice site	probably null
R7371:Skor1	UTSW	9	63,054,169 (GRCm39)	splice site	probably null
R7448:Skor1	UTSW	9	63,053,385 (GRCm39)	missense	probably damaging	1.00
R7491:Skor1	UTSW	9	63,053,730 (GRCm39)	missense	probably damaging	0.99
R7496:Skor1	UTSW	9	63,054,132 (GRCm39)	missense	probably benign	0.02
R7606:Skor1	UTSW	9	63,052,664 (GRCm39)	missense	probably damaging	1.00
R7664:Skor1	UTSW	9	63,049,045 (GRCm39)	missense	probably benign	0.08
R7689:Skor1	UTSW	9	63,052,661 (GRCm39)	missense	probably damaging	1.00
R7793:Skor1	UTSW	9	63,052,167 (GRCm39)	missense	probably damaging	1.00
R7871:Skor1	UTSW	9	63,053,783 (GRCm39)	missense	probably damaging	1.00
R7911:Skor1	UTSW	9	63,052,328 (GRCm39)	missense	possibly damaging	0.50
R8399:Skor1	UTSW	9	63,052,440 (GRCm39)	missense	possibly damaging	0.50
R8546:Skor1	UTSW	9	63,049,570 (GRCm39)	missense	probably damaging	1.00
R9244:Skor1	UTSW	9	63,049,524 (GRCm39)	critical splice donor site	probably null
R9723:Skor1	UTSW	9	63,053,714 (GRCm39)	missense	probably damaging	1.00
Z1176:Skor1	UTSW	9	63,052,412 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCGACTTGTCACTGAGTTTGAGG -3'
(R):5'- TACCCATCGTGTCGCTGGTCATTG -3'

Sequencing Primer
(F):5'- CTTGTTGGGAGAGAAATACATACTGC -3'
(R):5'- ATTGATGGGCAGGAGCG -3'

Posted On

2014-04-13