Mutagenetix > Incidental Mutation

Incidental Mutation 'R6396:Skor1'

516007

Institutional Source

Beutler Lab

Gene Symbol

Skor1

Ensembl Gene

ENSMUSG00000022245

Gene Name

SKI family transcriptional corepressor 1

Synonyms

Corl1, C230094B15Rik, Lbxcor1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.558) question?

Stock #

R6396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63138170-63148961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 63144950 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 579 (P579Q)

Ref Sequence

ENSEMBL: ENSMUSP00000055037 (fasta)

Gene Model

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

AlphaFold

Q8BX46

Predicted Effect

probably damaging
Transcript: ENSMUST00000055281
AA Change: P579Q

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

SMART Domains

Protein: ENSMUSP00000055037
Gene: ENSMUSG00000022245
AA Change: P579Q

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: P540Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112312
Gene: ENSMUSG00000022245
AA Change: P540Q

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

possibly damaging
Transcript: ENSMUST00000119146
AA Change: P551Q

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113924
Gene: ENSMUSG00000022245
AA Change: P551Q

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 97.9%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	A	G	6: 149,327,919	D821G	probably damaging	Het
Arhgap35	A	T	7: 16,562,299	I947K	probably damaging	Het
B3galnt2	A	T	13: 13,995,748	I447F	probably damaging	Het
Cacna2d3	C	A	14: 29,396,565	V134L	probably benign	Het
Clcn4	C	T	7: 7,294,025	G145S	probably damaging	Het
Cndp1	A	T	18: 84,632,010	M186K	probably benign	Het
Cntn6	A	G	6: 104,650,500	Y98C	probably damaging	Het
Ctsb	T	C	14: 63,138,101	V172A	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dyrk1a	C	A	16: 94,671,440	Q230K	probably damaging	Het
Ech1	C	T	7: 28,830,338		probably null	Het
Fam81b	T	A	13: 76,251,849	R97W	probably damaging	Het
Heatr1	A	G	13: 12,406,097	E423G	possibly damaging	Het
Hydin	A	T	8: 110,506,889	K1786N	probably damaging	Het
Igf2r	T	C	17: 12,714,090	I848M	probably benign	Het
Igkv10-96	G	A	6: 68,631,985	Q109*	probably null	Het
Mup6	T	C	4: 60,004,837	I76T	possibly damaging	Het
Nmt2	A	G	2: 3,314,701	R243G	probably benign	Het
Nsd1	G	A	13: 55,238,789	G119D	probably damaging	Het
Olfr1218	A	G	2: 89,055,297	I43T	probably benign	Het
Olfr1225	T	G	2: 89,170,690	D174A	probably damaging	Het
Olfr51	A	G	11: 51,007,485	H171R	possibly damaging	Het
Olfr613	C	T	7: 103,552,681	Q299*	probably null	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pank3	T	C	11: 35,778,689	V250A	probably damaging	Het
Pcdh10	A	G	3: 45,380,060	I270V	possibly damaging	Het
Pnp2	T	A	14: 50,963,159	V94E	probably damaging	Het
Prdm10	T	C	9: 31,318,546	V86A	possibly damaging	Het
Riox1	G	A	12: 83,951,313	D208N	possibly damaging	Het
Rrp15	A	G	1: 186,737,586		probably null	Het
Slc44a4	T	A	17: 34,928,884	Y481*	probably null	Het
Smg7	A	T	1: 152,848,600	V610E	probably benign	Het
Tlx1	A	G	19: 45,156,052	Q71R	probably damaging	Het
Vmn2r27	A	T	6: 124,224,166	Y277*	probably null	Het
Zswim2	T	A	2: 83,923,718	R199S	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
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
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
Z1176:Skor1	UTSW	9	63145130	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGCGGTTGGACTCTACGTC -3'
(R):5'- TATACCCGACGTTTCCCATG -3'

Sequencing Primer
(F):5'- TGCCCTCGCTCAGAAAGTC -3'
(R):5'- ATGTTCTGGCCAGCAGC -3'

Posted On

2018-05-04