Mutagenetix > Incidental Mutation

Incidental Mutation 'R4698:Skor1'

355841

Institutional Source

Beutler Lab

Gene Symbol

Skor1

Ensembl Gene

ENSMUSG00000022245

Gene Name

SKI family transcriptional corepressor 1

Synonyms

Corl1, C230094B15Rik, Lbxcor1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.452) question?

Stock #

R4698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63138170-63148961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63144548 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 685 (D685G)

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: D713G

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

SMART Domains

Protein: ENSMUSP00000055037
Gene: ENSMUSG00000022245
AA Change: D713G

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: D674G

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

SMART Domains

Protein: ENSMUSP00000112312
Gene: ENSMUSG00000022245
AA Change: D674G

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: D685G

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

SMART Domains

Protein: ENSMUSP00000113924
Gene: ENSMUSG00000022245
AA Change: D685G

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	G	17: 48,038,240 (GRCm38)	V11A	possibly damaging	Het
6030452D12Rik	T	C	8: 106,504,347 (GRCm38)	I55T	unknown	Het
Aadacl2	A	G	3: 60,025,039 (GRCm38)	D325G	probably benign	Het
Adh1	A	G	3: 138,282,513 (GRCm38)	S113G	probably benign	Het
Agxt2	T	C	15: 10,392,044 (GRCm38)		probably null	Het
Aicda	C	T	6: 122,553,888 (GRCm38)		probably benign	Het
Aifm2	T	C	10: 61,727,756 (GRCm38)	M135T	probably benign	Het
Asah2	T	C	19: 32,054,471 (GRCm38)		probably null	Het
Btbd17	T	C	11: 114,791,717 (GRCm38)	R390G	probably damaging	Het
Cadps	T	C	14: 12,705,654 (GRCm38)	E247G	possibly damaging	Het
Cds2	T	C	2: 132,304,953 (GRCm38)	I383T	probably damaging	Het
Celf3	T	A	3: 94,484,867 (GRCm38)		probably null	Het
Crhr2	T	C	6: 55,102,867 (GRCm38)	S162G	possibly damaging	Het
Dapl1	A	T	2: 59,504,774 (GRCm38)	K91*	probably null	Het
Ddx60	A	C	8: 62,012,424 (GRCm38)	M1372L	probably benign	Het
Dnah2	A	T	11: 69,498,532 (GRCm38)	F845I	probably damaging	Het
Dscam	T	C	16: 96,610,324 (GRCm38)	D1784G	probably damaging	Het
Ech1	T	C	7: 28,832,053 (GRCm38)	V310A	probably benign	Het
Eef1g	A	G	19: 8,977,966 (GRCm38)	D393G	possibly damaging	Het
Eif3k	T	C	7: 28,972,544 (GRCm38)	I172V	possibly damaging	Het
Foxd4	A	G	19: 24,900,261 (GRCm38)	F192L	probably damaging	Het
Gpr153	T	A	4: 152,281,783 (GRCm38)	S268R	probably damaging	Het
Hist2h3b	C	A	3: 96,269,078 (GRCm38)	R129S	probably damaging	Het
Ivl	T	C	3: 92,571,391 (GRCm38)	K456E	unknown	Het
Kif20b	A	T	19: 34,951,544 (GRCm38)	D1190V	probably damaging	Het
Kif21a	T	A	15: 90,956,305 (GRCm38)	I1223L	possibly damaging	Het
Lmf1	T	C	17: 25,579,350 (GRCm38)	V55A	probably damaging	Het
Loxhd1	A	G	18: 77,372,291 (GRCm38)	E659G	possibly damaging	Het
Lrrc37a	T	C	11: 103,504,104 (GRCm38)	E165G	possibly damaging	Het
Mios	T	C	6: 8,228,113 (GRCm38)	Y677H	possibly damaging	Het
Mnx1	T	A	5: 29,474,059 (GRCm38)	K342M	unknown	Het
Mtpap	A	T	18: 4,375,724 (GRCm38)	T35S	possibly damaging	Het
Ndc1	C	G	4: 107,411,137 (GRCm38)	D623E	probably benign	Het
Nedd4l	A	G	18: 65,203,880 (GRCm38)	Y666C	probably damaging	Het
Olfr1022	A	G	2: 85,869,252 (GRCm38)	Y220C	possibly damaging	Het
Olfr1445	T	G	19: 12,884,621 (GRCm38)	F247V	probably benign	Het
Olfr204	T	C	16: 59,315,357 (GRCm38)	T17A	probably damaging	Het
Olfr605	T	A	7: 103,442,635 (GRCm38)	I163F	possibly damaging	Het
Papss1	G	T	3: 131,607,331 (GRCm38)	V369F	probably damaging	Het
Pcdhac2	T	A	18: 37,145,769 (GRCm38)	Y601N	probably damaging	Het
Pde7a	C	T	3: 19,310,931 (GRCm38)	R24Q	probably damaging	Het
Phf21a	A	G	2: 92,356,952 (GRCm38)	D445G	probably damaging	Het
Plekho1	T	A	3: 95,995,652 (GRCm38)	N15I	possibly damaging	Het
Pprc1	T	C	19: 46,069,195 (GRCm38)		probably benign	Het
Ralgapa1	A	T	12: 55,677,276 (GRCm38)		probably null	Het
Rrp12	T	C	19: 41,873,042 (GRCm38)	E942G	probably benign	Het
Smim23	A	T	11: 32,824,510 (GRCm38)	I3N	possibly damaging	Het
Spata7	A	T	12: 98,664,277 (GRCm38)	I333F	probably damaging	Het
Sppl2c	T	C	11: 104,188,315 (GRCm38)	I647T	probably benign	Het
Srgap1	C	A	10: 121,792,487 (GRCm38)	R837L	probably benign	Het
Stpg2	C	A	3: 139,309,229 (GRCm38)	P385H	probably damaging	Het
Tmem238	C	A	7: 4,789,017 (GRCm38)	E19*	probably null	Het
Top2b	A	T	14: 16,387,331 (GRCm38)	K140*	probably null	Het
Trp53	T	A	11: 69,588,422 (GRCm38)	L142*	probably null	Het
Tyro3	A	T	2: 119,803,270 (GRCm38)	D133V	probably damaging	Het
Virma	T	A	4: 11,528,636 (GRCm38)	I1291N	probably damaging	Het
Vmn1r213	A	G	13: 23,011,337 (GRCm38)		probably benign	Het
Zbtb10	T	C	3: 9,264,550 (GRCm38)	S323P	possibly damaging	Het
Zfp521	A	T	18: 13,845,603 (GRCm38)	N584K	probably damaging	Het
Zfp944	A	G	17: 22,339,199 (GRCm38)	C356R	probably damaging	Het

Other mutations in Skor1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Skor1	APN	9	63,146,441 (GRCm38)	missense	probably damaging	1.00
IGL00736:Skor1	APN	9	63,139,538 (GRCm38)	missense	probably damaging	0.99
IGL01344:Skor1	APN	9	63,142,278 (GRCm38)	missense	possibly damaging	0.79
IGL01383:Skor1	APN	9	63,146,556 (GRCm38)	missense	probably benign	0.12
IGL01456:Skor1	APN	9	63,145,490 (GRCm38)	missense	probably damaging	1.00
IGL02503:Skor1	APN	9	63,146,115 (GRCm38)	missense	probably damaging	1.00
IGL02526:Skor1	APN	9	63,145,877 (GRCm38)	missense	probably damaging	1.00
IGL02699:Skor1	APN	9	63,140,046 (GRCm38)	splice site	probably benign
R0041:Skor1	UTSW	9	63,145,851 (GRCm38)	missense	probably damaging	1.00
R0092:Skor1	UTSW	9	63,145,995 (GRCm38)	missense	probably damaging	1.00
R1464:Skor1	UTSW	9	63,140,111 (GRCm38)	missense	possibly damaging	0.54
R1464:Skor1	UTSW	9	63,140,111 (GRCm38)	missense	possibly damaging	0.54
R1581:Skor1	UTSW	9	63,146,223 (GRCm38)	missense	probably damaging	1.00
R1598:Skor1	UTSW	9	63,146,004 (GRCm38)	missense	probably damaging	1.00
R2172:Skor1	UTSW	9	63,145,122 (GRCm38)	missense	possibly damaging	0.84
R3734:Skor1	UTSW	9	63,140,068 (GRCm38)	missense	probably damaging	1.00
R3803:Skor1	UTSW	9	63,145,586 (GRCm38)	missense	probably benign	0.06
R3839:Skor1	UTSW	9	63,144,448 (GRCm38)	missense	probably damaging	0.97
R4627:Skor1	UTSW	9	63,145,476 (GRCm38)	missense	probably damaging	1.00
R4712:Skor1	UTSW	9	63,139,573 (GRCm38)	splice site	probably null
R4781:Skor1	UTSW	9	63,144,459 (GRCm38)	missense	probably benign
R5089:Skor1	UTSW	9	63,145,923 (GRCm38)	missense	probably damaging	0.99
R5735:Skor1	UTSW	9	63,146,064 (GRCm38)	missense	probably damaging	1.00
R6279:Skor1	UTSW	9	63,145,314 (GRCm38)	missense	probably damaging	0.99
R6300:Skor1	UTSW	9	63,145,314 (GRCm38)	missense	probably damaging	0.99
R6396:Skor1	UTSW	9	63,144,950 (GRCm38)	missense	probably damaging	1.00
R6791:Skor1	UTSW	9	63,140,354 (GRCm38)	splice site	probably null
R7371:Skor1	UTSW	9	63,146,887 (GRCm38)	splice site	probably null
R7448:Skor1	UTSW	9	63,146,103 (GRCm38)	missense	probably damaging	1.00
R7491:Skor1	UTSW	9	63,146,448 (GRCm38)	missense	probably damaging	0.99
R7496:Skor1	UTSW	9	63,146,850 (GRCm38)	missense	probably benign	0.02
R7606:Skor1	UTSW	9	63,145,382 (GRCm38)	missense	probably damaging	1.00
R7664:Skor1	UTSW	9	63,141,763 (GRCm38)	missense	probably benign	0.08
R7689:Skor1	UTSW	9	63,145,379 (GRCm38)	missense	probably damaging	1.00
R7793:Skor1	UTSW	9	63,144,885 (GRCm38)	missense	probably damaging	1.00
R7871:Skor1	UTSW	9	63,146,501 (GRCm38)	missense	probably damaging	1.00
R7911:Skor1	UTSW	9	63,145,046 (GRCm38)	missense	possibly damaging	0.50
R8399:Skor1	UTSW	9	63,145,158 (GRCm38)	missense	possibly damaging	0.50
R8546:Skor1	UTSW	9	63,142,288 (GRCm38)	missense	probably damaging	1.00
R9244:Skor1	UTSW	9	63,142,242 (GRCm38)	critical splice donor site	probably null
R9723:Skor1	UTSW	9	63,146,432 (GRCm38)	missense	probably damaging	1.00
Z1176:Skor1	UTSW	9	63,145,130 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGTGTACGAGGGCAGAATG -3'
(R):5'- GAGAGCATCGCTAAGCTCTACG -3'

Sequencing Primer
(F):5'- AGGTGCACCAGGCTCAC -3'
(R):5'- TACGTGAGCCCGGACTTTCTG -3'

Posted On

2015-10-21