Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02699:Skor1'

304079

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Skor1

Ensembl Gene

ENSMUSG00000022245

Gene Name

SKI family transcriptional corepressor 1

Synonyms

Corl1, C230094B15Rik, Lbxcor1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.484) question?

Stock #

IGL02699

Quality Score

Status

Chromosome

Chromosomal Location

63138170-63148961 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 63140046 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113924 (fasta)

Gene Model

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

AlphaFold

Q8BX46

Predicted Effect

probably benign
Transcript: ENSMUST00000055281

SMART Domains

Protein: ENSMUSP00000055037
Gene: ENSMUSG00000022245

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 benign
Transcript: ENSMUST00000116613

SMART Domains

Protein: ENSMUSP00000112312
Gene: ENSMUSG00000022245

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 benign
Transcript: ENSMUST00000119146

SMART Domains

Protein: ENSMUSP00000113924
Gene: ENSMUSG00000022245

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,322,019	D198G	probably benign	Het
Casq1	T	C	1: 172,219,696		probably benign	Het
Cd109	T	A	9: 78,671,989		probably benign	Het
Col15a1	T	G	4: 47,284,471		probably benign	Het
Ctdp1	T	C	18: 80,450,185	D365G	probably benign	Het
Daam1	T	C	12: 71,988,943	F971L	probably damaging	Het
Dalrd3	T	A	9: 108,570,889		probably benign	Het
Dnaaf5	T	C	5: 139,153,350		probably benign	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fbxo8	A	G	8: 56,590,188	T236A	possibly damaging	Het
Ighv1-12	C	A	12: 114,616,116	E29*	probably null	Het
Il17re	A	G	6: 113,468,919	D397G	probably damaging	Het
Ing5	A	G	1: 93,816,442	N157D	possibly damaging	Het
Ipo11	T	C	13: 106,889,397	E395G	possibly damaging	Het
Letm1	T	C	5: 33,745,148	E599G	possibly damaging	Het
Mansc1	T	C	6: 134,610,354	T287A	probably benign	Het
Med1	T	C	11: 98,180,025	N131D	possibly damaging	Het
Olfr1085	A	T	2: 86,658,347	I37N	probably benign	Het
Olfr1337	G	T	4: 118,782,152	C144*	probably null	Het
Olfr1341	T	C	4: 118,710,198	S264P	probably benign	Het
Olfr769	T	G	10: 129,111,771	Y218S	probably benign	Het
Osm	T	C	11: 4,239,723	V169A	possibly damaging	Het
Phkg2	C	T	7: 127,582,550	A278V	probably benign	Het
Plod2	T	A	9: 92,607,142	M709K	probably damaging	Het
Pzp	A	T	6: 128,487,401		probably null	Het
Ric1	T	C	19: 29,522,557	L12P	possibly damaging	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Syncrip	A	G	9: 88,456,554		probably benign	Het
Tex2	T	C	11: 106,568,433	E57G	possibly damaging	Het
Tmc1	C	T	19: 20,832,350		probably null	Het
Tmem59	T	C	4: 107,192,538	M140T	probably benign	Het
Ttn	T	C	2: 76,944,089	T2158A	probably damaging	Het

Other mutations in Skor1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Skor1	APN	9	63146441	missense	probably damaging	1.00
IGL00736:Skor1	APN	9	63139538	missense	probably damaging	0.99
IGL01344:Skor1	APN	9	63142278	missense	possibly damaging	0.79
IGL01383:Skor1	APN	9	63146556	missense	probably benign	0.12
IGL01456:Skor1	APN	9	63145490	missense	probably damaging	1.00
IGL02503:Skor1	APN	9	63146115	missense	probably damaging	1.00
IGL02526:Skor1	APN	9	63145877	missense	probably damaging	1.00
R0041:Skor1	UTSW	9	63145851	missense	probably damaging	1.00
R0092:Skor1	UTSW	9	63145995	missense	probably damaging	1.00
R1464:Skor1	UTSW	9	63140111	missense	possibly damaging	0.54
R1464:Skor1	UTSW	9	63140111	missense	possibly damaging	0.54
R1581:Skor1	UTSW	9	63146223	missense	probably damaging	1.00
R1598:Skor1	UTSW	9	63146004	missense	probably damaging	1.00
R2172:Skor1	UTSW	9	63145122	missense	possibly damaging	0.84
R3734:Skor1	UTSW	9	63140068	missense	probably damaging	1.00
R3803:Skor1	UTSW	9	63145586	missense	probably benign	0.06
R3839:Skor1	UTSW	9	63144448	missense	probably damaging	0.97
R4627:Skor1	UTSW	9	63145476	missense	probably damaging	1.00
R4698:Skor1	UTSW	9	63144548	missense	probably benign
R4712:Skor1	UTSW	9	63139573	splice site	probably null
R4781:Skor1	UTSW	9	63144459	missense	probably benign
R5089:Skor1	UTSW	9	63145923	missense	probably damaging	0.99
R5735:Skor1	UTSW	9	63146064	missense	probably damaging	1.00
R6279:Skor1	UTSW	9	63145314	missense	probably damaging	0.99
R6300:Skor1	UTSW	9	63145314	missense	probably damaging	0.99
R6396:Skor1	UTSW	9	63144950	missense	probably damaging	1.00
R6791:Skor1	UTSW	9	63140354	splice site	probably null
R7371:Skor1	UTSW	9	63146887	splice site	probably null
R7448:Skor1	UTSW	9	63146103	missense	probably damaging	1.00
R7491:Skor1	UTSW	9	63146448	missense	probably damaging	0.99
R7496:Skor1	UTSW	9	63146850	missense	probably benign	0.02
R7606:Skor1	UTSW	9	63145382	missense	probably damaging	1.00
R7664:Skor1	UTSW	9	63141763	missense	probably benign	0.08
R7689:Skor1	UTSW	9	63145379	missense	probably damaging	1.00
R7793:Skor1	UTSW	9	63144885	missense	probably damaging	1.00
R7871:Skor1	UTSW	9	63146501	missense	probably damaging	1.00
R7911:Skor1	UTSW	9	63145046	missense	possibly damaging	0.50
R8399:Skor1	UTSW	9	63145158	missense	possibly damaging	0.50
R8546:Skor1	UTSW	9	63142288	missense	probably damaging	1.00
R9244:Skor1	UTSW	9	63142242	critical splice donor site	probably null
R9723:Skor1	UTSW	9	63146432	missense	probably damaging	1.00
Z1176:Skor1	UTSW	9	63145130	missense	probably benign	0.00

Posted On

2015-04-16