Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00736:Skor1'

14033

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: 0.467) question?

Stock #

IGL00736

Quality Score

Status

Chromosome

Chromosomal Location

63138170-63148961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63139538 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 892 (Q892H)

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: Q920H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055037
Gene: ENSMUSG00000022245
AA Change: Q920H

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

possibly damaging
Transcript: ENSMUST00000116613
AA Change: Q881H

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112312
Gene: ENSMUSG00000022245
AA Change: Q881H

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: Q892H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113924
Gene: ENSMUSG00000022245
AA Change: Q892H

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,322,490	L41P	probably damaging	Het
Baz1b	A	G	5: 135,240,032	Y1245C	probably damaging	Het
Dnajb7	T	A	15: 81,407,573	I188F	probably benign	Het
Dpf1	A	T	7: 29,312,908	K18*	probably null	Het
Drosha	T	A	15: 12,833,959	Y50N	unknown	Het
Eif2s1	T	A	12: 78,884,837		probably benign	Het
Gde1	T	C	7: 118,698,702	E97G	probably damaging	Het
Lrrc8c	G	A	5: 105,607,114	V252M	probably damaging	Het
Megf10	G	A	18: 57,292,710	R1056Q	probably benign	Het
Myo3b	A	C	2: 70,105,645		probably benign	Het
Ralbp1	T	C	17: 65,864,723	Y85C	probably damaging	Het
Serpini2	C	T	3: 75,267,809	M58I	possibly damaging	Het
Slc22a26	T	C	19: 7,790,162	Q292R	possibly damaging	Het
Smc1b	T	C	15: 85,129,700	E90G	possibly damaging	Het
Zmym2	T	C	14: 56,903,211	V169A	probably benign	Het

Other mutations in Skor1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Skor1	APN	9	63146441	missense	probably damaging	1.00
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
IGL02699:Skor1	APN	9	63140046	splice site	probably benign
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

2012-12-06