Mutagenetix > Incidental Mutation

Incidental Mutation 'R4781:Skor1'

366505

Institutional Source

Beutler Lab

Gene Symbol

Skor1

Ensembl Gene

ENSMUSG00000022245

Gene Name

SKI family transcriptional corepressor 1

Synonyms

Corl1, C230094B15Rik, Lbxcor1

MMRRC Submission

042415-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.467) question?

Stock #

R4781 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

63138170-63148961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63144459 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 715 (T715A)

Ref Sequence

ENSEMBL: ENSMUSP00000113924 (fasta)

Gene Model

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

AlphaFold

Q8BX46

Predicted Effect

probably benign
Transcript: ENSMUST00000055281
AA Change: T743A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055037
Gene: ENSMUSG00000022245
AA Change: T743A

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
AA Change: T704A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112312
Gene: ENSMUSG00000022245
AA Change: T704A

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
AA Change: T715A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113924
Gene: ENSMUSG00000022245
AA Change: T715A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,571,651	I157N	probably damaging	Het
Adgrl3	T	C	5: 81,760,724	Y1165H	probably damaging	Het
Adra2a	A	G	19: 54,046,495	D94G	probably damaging	Het
Akr1c20	T	A	13: 4,508,175	K197*	probably null	Het
Ankrd65	C	T	4: 155,793,036	H335Y	possibly damaging	Het
Axin2	T	A	11: 108,943,856	L636Q	probably damaging	Het
BC147527	A	C	13: 120,308,162	K6T	possibly damaging	Het
Camk1g	G	T	1: 193,356,344	T90N	probably benign	Het
Cd177	C	A	7: 24,750,626	C528F	probably damaging	Het
Cntnap5a	A	T	1: 116,412,201	D730V	possibly damaging	Het
Crtap	T	C	9: 114,386,236	D195G	probably benign	Het
Csn1s2b	A	G	5: 87,819,093	S74G	possibly damaging	Het
Cyp3a16	T	C	5: 145,456,112	R128G	possibly damaging	Het
Dnah7a	A	G	1: 53,425,208	F3675L	probably benign	Het
Dram2	T	A	3: 106,571,676	W195R	probably damaging	Het
E130308A19Rik	C	T	4: 59,691,057	P297L	probably benign	Het
Eif3i	T	C	4: 129,595,273	S83G	probably benign	Het
Gabra1	G	A	11: 42,133,661	P396S	probably damaging	Het
Gipr	T	A	7: 19,157,375	Y459F	possibly damaging	Het
Gm11677	C	T	11: 111,724,711		noncoding transcript	Het
Gm6981	T	C	9: 52,002,756		noncoding transcript	Het
Grin2d	T	C	7: 45,862,481	D180G	probably damaging	Het
Hectd4	T	G	5: 121,306,107		probably null	Het
Hhat	T	C	1: 192,686,979		probably benign	Het
Hoxa6	A	G	6: 52,206,420	L215P	possibly damaging	Het
Hsf4	G	A	8: 105,274,752		probably null	Het
Igf1r	G	A	7: 68,165,199	A283T	possibly damaging	Het
Ighv15-2	A	G	12: 114,564,856	S25P	probably damaging	Het
Inpp5a	C	T	7: 139,478,005	T43I	probably benign	Het
Kmt2c	T	A	5: 25,443,825	E82V	probably damaging	Het
Lrrc31	A	G	3: 30,687,377		probably benign	Het
Mdga2	A	G	12: 66,797,622		probably null	Het
Mefv	G	A	16: 3,715,334	P358S	probably benign	Het
Mrgpra9	A	G	7: 47,235,047	F291L	possibly damaging	Het
Mtmr3	A	G	11: 4,488,435	L673P	probably benign	Het
Muc19	T	C	15: 91,903,166		noncoding transcript	Het
Myo5b	A	T	18: 74,744,681	T1584S	possibly damaging	Het
Olfr1375	A	T	11: 51,048,480	R124S	probably damaging	Het
Olfr1427	T	C	19: 12,099,367	T91A	probably benign	Het
Palld	G	T	8: 61,877,028	R272S	probably benign	Het
Pcnx3	T	A	19: 5,687,130	N144Y	probably damaging	Het
Prf1	A	G	10: 61,300,424	K160E	probably damaging	Het
Rasgrp1	G	A	2: 117,291,709	A400V	probably benign	Het
Rnf150	A	G	8: 82,864,152	Y48C	probably damaging	Het
Rpl11	G	T	4: 136,050,288	Q170K	probably benign	Het
Scin	G	A	12: 40,081,764	A257V	possibly damaging	Het
Scn7a	C	A	2: 66,703,760	A524S	possibly damaging	Het
Sim1	T	C	10: 50,983,785	L581S	probably benign	Het
Slc22a26	A	G	19: 7,790,135	V301A	probably benign	Het
Sorcs1	T	C	19: 50,182,681	Y923C	probably damaging	Het
Src	T	A	2: 157,467,485	M304K	possibly damaging	Het
Srgap3	A	T	6: 112,757,425		probably benign	Het
Stard3	G	A	11: 98,372,334	E72K	possibly damaging	Het
Svep1	T	A	4: 58,070,340	N2482I	probably damaging	Het
Tbc1d23	T	C	16: 57,218,415	K20R	possibly damaging	Het
Tfip11	G	A	5: 112,333,399	E414K	probably damaging	Het
Tinag	G	T	9: 76,996,950	T397K	possibly damaging	Het
Traf7	C	G	17: 24,510,438		probably benign	Het
Trmt10b	T	A	4: 45,305,817	I164N	probably damaging	Het
Trpm1	A	G	7: 64,235,052	D827G	probably benign	Het
Ube2u	A	T	4: 100,486,658	T85S	probably benign	Het
Ulk4	T	C	9: 121,103,576	D1066G	probably benign	Het
Vmn2r72	T	A	7: 85,737,861	I832F	probably benign	Het
Yipf1	A	C	4: 107,336,158	E80D	probably benign	Het
Zfp40	T	A	17: 23,175,655	R653W	probably damaging	Het
Zxdc	A	G	6: 90,372,553	T308A	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
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

Predicted Primers

PCR Primer
(F):5'- AATCGCACTCGCTGTTTCTCAG -3'
(R):5'- ACGTAGAGTCCAACCGCTTC -3'

Sequencing Primer
(F):5'- CGCTGTTTCTCAGGCCAG -3'
(R):5'- AACCGCTTCCCCGACGAG -3'

Posted On

2015-12-21