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, Lbxcor1, C230094B15Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.444) question?

Stock #

IGL00736

Quality Score

Status

Chromosome

Chromosomal Location

63045452-63056243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63046820 bp (GRCm39)

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: 77,158,324 (GRCm39)	L41P	probably damaging	Het
Baz1b	A	G	5: 135,268,886 (GRCm39)	Y1245C	probably damaging	Het
Dnajb7	T	A	15: 81,291,774 (GRCm39)	I188F	probably benign	Het
Dpf1	A	T	7: 29,012,333 (GRCm39)	K18*	probably null	Het
Drosha	T	A	15: 12,834,045 (GRCm39)	Y50N	unknown	Het
Eif2s1	T	A	12: 78,931,611 (GRCm39)		probably benign	Het
Gde1	T	C	7: 118,297,925 (GRCm39)	E97G	probably damaging	Het
Lrrc8c	G	A	5: 105,754,980 (GRCm39)	V252M	probably damaging	Het
Megf10	G	A	18: 57,425,782 (GRCm39)	R1056Q	probably benign	Het
Myo3b	A	C	2: 69,935,989 (GRCm39)		probably benign	Het
Ralbp1	T	C	17: 66,171,718 (GRCm39)	Y85C	probably damaging	Het
Serpini2	C	T	3: 75,175,116 (GRCm39)	M58I	possibly damaging	Het
Slc22a26	T	C	19: 7,767,527 (GRCm39)	Q292R	possibly damaging	Het
Smc1b	T	C	15: 85,013,901 (GRCm39)	E90G	possibly damaging	Het
Zmym2	T	C	14: 57,140,668 (GRCm39)	V169A	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
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
R1581:Skor1	UTSW	9	63,053,505 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2012-12-06