Mutagenetix > Incidental Mutation

Incidental Mutation 'R0092:Skor1'

20288

Institutional Source

Beutler Lab

Gene Symbol

Skor1

Ensembl Gene

ENSMUSG00000022245

Gene Name

SKI family transcriptional corepressor 1

Synonyms

Corl1, Lbxcor1, C230094B15Rik

MMRRC Submission

038379-MU

Accession Numbers

Essential gene?

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

Stock #

R0092 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

63045452-63056243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63053277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 231 (D231Y)

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: D231Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055037
Gene: ENSMUSG00000022245
AA Change: D231Y

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: D192Y

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

SMART Domains

Protein: ENSMUSP00000112312
Gene: ENSMUSG00000022245
AA Change: D192Y

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: D203Y

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

SMART Domains

Protein: ENSMUSP00000113924
Gene: ENSMUSG00000022245
AA Change: D203Y

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

0.1960

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.6%

Validation Efficiency

99% (112/113)

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	A	6: 58,662,762 (GRCm39)	S535T	probably benign	Het
Acad11	A	T	9: 103,967,540 (GRCm39)		probably benign	Het
Acadm	A	T	3: 153,647,512 (GRCm39)		probably benign	Het
Acot12	T	A	13: 91,889,684 (GRCm39)	M12K	probably damaging	Het
Actr2	A	T	11: 20,044,308 (GRCm39)	N99K	probably benign	Het
Adam2	G	A	14: 66,291,336 (GRCm39)	A314V	probably damaging	Het
Agl	C	T	3: 116,587,453 (GRCm39)	R34Q	probably damaging	Het
Agrn	C	T	4: 156,263,410 (GRCm39)	R338H	probably damaging	Het
AI661453	A	G	17: 47,778,440 (GRCm39)		probably benign	Het
Alpk3	A	G	7: 80,742,301 (GRCm39)	D706G	probably benign	Het
Apbb1	T	C	7: 105,208,361 (GRCm39)	E648G	probably damaging	Het
Astn2	C	A	4: 66,322,219 (GRCm39)	A127S	unknown	Het
Asxl2	T	C	12: 3,546,313 (GRCm39)	S366P	probably benign	Het
Bdh1	A	T	16: 31,266,380 (GRCm39)	K92*	probably null	Het
Bltp1	A	G	3: 37,082,308 (GRCm39)	D3790G	probably benign	Het
Cacna1g	C	T	11: 94,348,090 (GRCm39)	S666N	probably damaging	Het
Ces2b	A	G	8: 105,563,144 (GRCm39)	T361A	possibly damaging	Het
Col6a4	T	A	9: 105,890,513 (GRCm39)	E1927V	probably benign	Het
Ctnnb1	T	G	9: 120,781,929 (GRCm39)	I314S	possibly damaging	Het
Cyp2c66	T	C	19: 39,172,224 (GRCm39)		probably benign	Het
Dennd4c	T	A	4: 86,699,844 (GRCm39)	F232I	probably damaging	Het
Dennd5a	T	C	7: 109,499,013 (GRCm39)	N950S	possibly damaging	Het
Dhx30	T	C	9: 109,914,078 (GRCm39)	N14S	possibly damaging	Het
Dip2b	T	A	15: 100,100,146 (GRCm39)	V1004D	probably damaging	Het
Dnah1	A	C	14: 30,993,566 (GRCm39)	S2872A	probably benign	Het
Dnajc10	T	C	2: 80,156,026 (GRCm39)	V233A	probably damaging	Het
E230025N22Rik	A	G	18: 36,822,277 (GRCm39)	L162P	probably damaging	Het
Elmod3	T	C	6: 72,543,792 (GRCm39)	D333G	probably benign	Het
Epb41l3	T	A	17: 69,593,745 (GRCm39)	M846K	probably damaging	Het
Frem2	A	G	3: 53,497,217 (GRCm39)	Y1766H	probably benign	Het
Fxr2	T	C	11: 69,532,972 (GRCm39)		probably benign	Het
Gmpr2	A	G	14: 55,915,402 (GRCm39)	R258G	probably benign	Het
Helb	T	C	10: 119,925,713 (GRCm39)	Y888C	probably damaging	Het
Hephl1	TTCCAGATGTCC	TTCC	9: 15,001,899 (GRCm39)		probably null	Het
Hipk2	T	C	6: 38,720,164 (GRCm39)	D482G	probably damaging	Het
Itgb4	G	T	11: 115,869,950 (GRCm39)	R44L	probably damaging	Het
Itih1	T	C	14: 30,662,820 (GRCm39)		probably benign	Het
Kit	T	A	5: 75,808,414 (GRCm39)	S719R	possibly damaging	Het
Krt13	G	A	11: 100,012,258 (GRCm39)	Q22*	probably null	Het
L3mbtl4	A	C	17: 68,732,698 (GRCm39)	R59S	probably benign	Het
Lpp	A	G	16: 24,580,352 (GRCm39)	S23G	probably benign	Het
Magi3	G	A	3: 103,958,280 (GRCm39)	Q602*	probably null	Het
Man2a1	A	G	17: 64,966,079 (GRCm39)		probably benign	Het
Muc5ac	A	G	7: 141,372,367 (GRCm39)	E2667G	possibly damaging	Het
Myef2l	G	A	3: 10,153,633 (GRCm39)	C134Y	possibly damaging	Het
Myo15b	C	G	11: 115,753,812 (GRCm39)	S842C	possibly damaging	Het
Naf1	T	A	8: 67,341,760 (GRCm39)	S462T	probably benign	Het
Necab3	T	C	2: 154,400,659 (GRCm39)	D34G	possibly damaging	Het
Nisch	C	A	14: 30,913,410 (GRCm39)		probably benign	Het
Nlrc5	T	C	8: 95,216,222 (GRCm39)		probably benign	Het
Nmt1	T	C	11: 102,937,319 (GRCm39)	F119L	probably damaging	Het
Nod1	T	G	6: 54,921,526 (GRCm39)	D264A	probably damaging	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Nt5e	T	A	9: 88,252,338 (GRCm39)	F567I	probably benign	Het
Obscn	A	T	11: 58,942,073 (GRCm39)	M4434K	possibly damaging	Het
Opa1	A	T	16: 29,444,412 (GRCm39)	D866V	probably damaging	Het
Or10a3m	T	C	7: 108,313,031 (GRCm39)	V145A	probably benign	Het
Or10al3	T	G	17: 38,011,696 (GRCm39)	L45R	probably damaging	Het
Or10p1	A	G	10: 129,444,090 (GRCm39)	S87P	probably damaging	Het
Or1j21	A	G	2: 36,683,508 (GRCm39)	T87A	probably benign	Het
Or51ai2	T	C	7: 103,586,934 (GRCm39)	S116P	probably damaging	Het
Otop1	T	A	5: 38,457,174 (GRCm39)	V311E	probably damaging	Het
Pcsk2	A	G	2: 143,642,944 (GRCm39)	D407G	probably damaging	Het
Pdcd1	A	G	1: 93,980,149 (GRCm39)	W23R	possibly damaging	Het
Pigp	A	G	16: 94,166,321 (GRCm39)	V129A	probably damaging	Het
Pik3r5	A	G	11: 68,383,629 (GRCm39)	R483G	probably benign	Het
Pink1	A	G	4: 138,047,309 (GRCm39)	V225A	probably benign	Het
Plcl1	C	G	1: 55,735,924 (GRCm39)	Q422E	probably damaging	Het
Plec	T	C	15: 76,067,943 (GRCm39)	E1222G	probably benign	Het
Polr1a	T	C	6: 71,944,439 (GRCm39)		probably benign	Het
Prokr2	C	T	2: 132,215,517 (GRCm39)	V154M	probably damaging	Het
Rasgrp4	A	G	7: 28,844,557 (GRCm39)	R280G	possibly damaging	Het
Rmnd5b	T	C	11: 51,520,419 (GRCm39)	E8G	possibly damaging	Het
Sbf2	T	A	7: 109,920,013 (GRCm39)		probably benign	Het
Sec23b	A	G	2: 144,408,830 (GRCm39)	M172V	probably benign	Het
Setx	T	C	2: 29,036,305 (GRCm39)	V930A	probably benign	Het
Sft2d2	G	A	1: 165,006,829 (GRCm39)	A159V	possibly damaging	Het
Sh3gl1	G	T	17: 56,325,088 (GRCm39)	R250S	probably benign	Het
Slc24a1	T	G	9: 64,856,034 (GRCm39)	E291A	unknown	Het
Slc28a2b	G	T	2: 122,348,078 (GRCm39)		probably benign	Het
Smc1b	A	T	15: 84,951,925 (GRCm39)		probably benign	Het
Tbccd1	A	T	16: 22,644,844 (GRCm39)	N177K	possibly damaging	Het
Tdp1	T	A	12: 99,921,248 (GRCm39)	Y595N	probably damaging	Het
Tle5	G	A	10: 81,397,054 (GRCm39)	G10D	possibly damaging	Het
Tmem108	T	C	9: 103,366,504 (GRCm39)	K496E	possibly damaging	Het
Tmprss7	T	C	16: 45,487,959 (GRCm39)	D490G	probably damaging	Het
Tnrc6b	A	T	15: 80,802,729 (GRCm39)	N1511Y	probably damaging	Het
Top2b	G	A	14: 16,409,263 (GRCm38)	R802Q	probably damaging	Het
Trip10	A	T	17: 57,557,798 (GRCm39)	K27N	possibly damaging	Het
Txlnb	A	G	10: 17,718,503 (GRCm39)	N445D	possibly damaging	Het
Txnrd1	T	A	10: 82,715,636 (GRCm39)	I159N	probably damaging	Het
Ulk1	C	A	5: 110,944,193 (GRCm39)	A164S	probably null	Het
Vmn2r83	T	C	10: 79,327,798 (GRCm39)	V802A	probably damaging	Het
Zbtb4	A	G	11: 69,670,177 (GRCm39)	I967V	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
IGL00736:Skor1	APN	9	63,046,820 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- TTTGCTGGGCACTGGAATCACC -3'
(R):5'- TGCCTGAGAACTTCGCCTTTGAC -3'

Sequencing Primer
(F):5'- CACTGGAATCACCGGGTAG -3'
(R):5'- CGCCTTTGACGTGGTGC -3'

Posted On

2013-04-11