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, Lbxcor1, C230094B15Rik

MMRRC Submission

042415-MU

Accession Numbers

Essential gene?

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

Stock #

R4781 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

63045452-63056243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63051741 bp (GRCm39)

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: 27,271,076 (GRCm39)	I157N	probably damaging	Het
Adgrl3	T	C	5: 81,908,571 (GRCm39)	Y1165H	probably damaging	Het
Adra2a	A	G	19: 54,034,926 (GRCm39)	D94G	probably damaging	Het
Akr1c20	T	A	13: 4,558,174 (GRCm39)	K197*	probably null	Het
Ankrd65	C	T	4: 155,877,493 (GRCm39)	H335Y	possibly damaging	Het
Axin2	T	A	11: 108,834,682 (GRCm39)	L636Q	probably damaging	Het
Camk1g	G	T	1: 193,038,652 (GRCm39)	T90N	probably benign	Het
Cd177	C	A	7: 24,450,051 (GRCm39)	C528F	probably damaging	Het
Cntnap5a	A	T	1: 116,339,931 (GRCm39)	D730V	possibly damaging	Het
Crtap	T	C	9: 114,215,304 (GRCm39)	D195G	probably benign	Het
Csn1s2b	A	G	5: 87,966,952 (GRCm39)	S74G	possibly damaging	Het
Cyp3a16	T	C	5: 145,392,922 (GRCm39)	R128G	possibly damaging	Het
Dnah7a	A	G	1: 53,464,367 (GRCm39)	F3675L	probably benign	Het
Dram2	T	A	3: 106,478,992 (GRCm39)	W195R	probably damaging	Het
E130308A19Rik	C	T	4: 59,691,057 (GRCm39)	P297L	probably benign	Het
Eif3i	T	C	4: 129,489,066 (GRCm39)	S83G	probably benign	Het
Gabra1	G	A	11: 42,024,488 (GRCm39)	P396S	probably damaging	Het
Gipr	T	A	7: 18,891,300 (GRCm39)	Y459F	possibly damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm6981	T	C	9: 51,914,056 (GRCm39)		noncoding transcript	Het
Grin2d	T	C	7: 45,511,905 (GRCm39)	D180G	probably damaging	Het
Hectd4	T	G	5: 121,444,170 (GRCm39)		probably null	Het
Hhat	T	C	1: 192,369,287 (GRCm39)		probably benign	Het
Hoxa6	A	G	6: 52,183,400 (GRCm39)	L215P	possibly damaging	Het
Hsf4	G	A	8: 106,001,384 (GRCm39)		probably null	Het
Igf1r	G	A	7: 67,814,947 (GRCm39)	A283T	possibly damaging	Het
Ighv15-2	A	G	12: 114,528,476 (GRCm39)	S25P	probably damaging	Het
Inpp5a	C	T	7: 139,057,921 (GRCm39)	T43I	probably benign	Het
Kmt2c	T	A	5: 25,648,823 (GRCm39)	E82V	probably damaging	Het
Lrrc31	A	G	3: 30,741,526 (GRCm39)		probably benign	Het
Mdga2	A	G	12: 66,844,396 (GRCm39)		probably null	Het
Mefv	G	A	16: 3,533,198 (GRCm39)	P358S	probably benign	Het
Mrgpra9	A	G	7: 46,884,795 (GRCm39)	F291L	possibly damaging	Het
Mtmr3	A	G	11: 4,438,435 (GRCm39)	L673P	probably benign	Het
Muc19	T	C	15: 91,787,360 (GRCm39)		noncoding transcript	Het
Myo5b	A	T	18: 74,877,752 (GRCm39)	T1584S	possibly damaging	Het
Or1x6	A	T	11: 50,939,307 (GRCm39)	R124S	probably damaging	Het
Or4z4	T	C	19: 12,076,731 (GRCm39)	T91A	probably benign	Het
Palld	G	T	8: 62,330,062 (GRCm39)	R272S	probably benign	Het
Pcnx3	T	A	19: 5,737,158 (GRCm39)	N144Y	probably damaging	Het
Prf1	A	G	10: 61,136,203 (GRCm39)	K160E	probably damaging	Het
Rasgrp1	G	A	2: 117,122,190 (GRCm39)	A400V	probably benign	Het
Rnf150	A	G	8: 83,590,781 (GRCm39)	Y48C	probably damaging	Het
Rpl11	G	T	4: 135,777,599 (GRCm39)	Q170K	probably benign	Het
Scin	G	A	12: 40,131,763 (GRCm39)	A257V	possibly damaging	Het
Scn7a	C	A	2: 66,534,104 (GRCm39)	A524S	possibly damaging	Het
Sim1	T	C	10: 50,859,881 (GRCm39)	L581S	probably benign	Het
Slc22a26	A	G	19: 7,767,500 (GRCm39)	V301A	probably benign	Het
Sorcs1	T	C	19: 50,171,119 (GRCm39)	Y923C	probably damaging	Het
Src	T	A	2: 157,309,405 (GRCm39)	M304K	possibly damaging	Het
Srgap3	A	T	6: 112,734,386 (GRCm39)		probably benign	Het
Stard3	G	A	11: 98,263,160 (GRCm39)	E72K	possibly damaging	Het
Svep1	T	A	4: 58,070,340 (GRCm39)	N2482I	probably damaging	Het
Tbc1d23	T	C	16: 57,038,778 (GRCm39)	K20R	possibly damaging	Het
Tcstv4	A	C	13: 120,769,698 (GRCm39)	K6T	possibly damaging	Het
Tfip11	G	A	5: 112,481,265 (GRCm39)	E414K	probably damaging	Het
Tinag	G	T	9: 76,904,232 (GRCm39)	T397K	possibly damaging	Het
Traf7	C	G	17: 24,729,412 (GRCm39)		probably benign	Het
Trmt10b	T	A	4: 45,305,817 (GRCm39)	I164N	probably damaging	Het
Trpm1	A	G	7: 63,884,800 (GRCm39)	D827G	probably benign	Het
Ube2u	A	T	4: 100,343,855 (GRCm39)	T85S	probably benign	Het
Ulk4	T	C	9: 120,932,642 (GRCm39)	D1066G	probably benign	Het
Vmn2r72	T	A	7: 85,387,069 (GRCm39)	I832F	probably benign	Het
Yipf1	A	C	4: 107,193,355 (GRCm39)	E80D	probably benign	Het
Zfp40	T	A	17: 23,394,629 (GRCm39)	R653W	probably damaging	Het
Zxdc	A	G	6: 90,349,535 (GRCm39)	T308A	probably damaging	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
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
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'- AATCGCACTCGCTGTTTCTCAG -3'
(R):5'- ACGTAGAGTCCAACCGCTTC -3'

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

Posted On

2015-12-21