Mutagenetix > Incidental Mutation

Incidental Mutation 'R3611:Skor2'

269244

Institutional Source

Beutler Lab

Gene Symbol

Skor2

Ensembl Gene

ENSMUSG00000091519

Gene Name

SKI family transcriptional corepressor 2

Synonyms

Corl2, Fussel18, Gm7348

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3611 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

76944100-76988037 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76946533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 85 (V85A)

Ref Sequence

ENSEMBL: ENSMUSP00000132338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166956]

AlphaFold

A7M7C7

Predicted Effect

unknown
Transcript: ENSMUST00000166956
AA Change: V85A

SMART Domains

Protein: ENSMUSP00000132338
Gene: ENSMUSG00000091519
AA Change: V85A

Domain	Start	End	E-Value	Type
Pfam:Ski_Sno	25	132	2.3e-41	PFAM
c-SKI_SMAD_bind	144	236	6.92e-55	SMART
low complexity region	261	305	N/A	INTRINSIC
low complexity region	320	373	N/A	INTRINSIC
low complexity region	426	452	N/A	INTRINSIC
low complexity region	478	491	N/A	INTRINSIC
low complexity region	513	551	N/A	INTRINSIC
low complexity region	578	595	N/A	INTRINSIC
low complexity region	645	680	N/A	INTRINSIC
low complexity region	688	707	N/A	INTRINSIC
low complexity region	722	741	N/A	INTRINSIC
low complexity region	747	766	N/A	INTRINSIC
low complexity region	817	838	N/A	INTRINSIC
low complexity region	842	857	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for null mutations display neonatal and postnatal lethality, abnormal cerebellum development, and abnormal Purkinje cell differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	G	A	6: 92,846,965 (GRCm39)	T521M	probably benign	Het
Ap1b1	A	G	11: 4,974,427 (GRCm39)	K345R	possibly damaging	Het
Arhgap26	T	C	18: 39,066,972 (GRCm39)	W53R	probably benign	Het
Brd1	A	G	15: 88,585,147 (GRCm39)	S896P	probably benign	Het
Cc2d2a	A	T	5: 43,869,668 (GRCm39)	E856D	probably damaging	Het
Chd3	A	G	11: 69,252,973 (GRCm39)	S281P	possibly damaging	Het
Chl1	A	G	6: 103,675,116 (GRCm39)	D601G	probably damaging	Het
Cntn3	C	A	6: 102,185,038 (GRCm39)	V693L	possibly damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Dsc2	A	G	18: 20,165,408 (GRCm39)	V855A	probably damaging	Het
Fat2	T	C	11: 55,202,895 (GRCm39)	M60V	probably benign	Het
Fmnl1	A	G	11: 103,085,591 (GRCm39)		probably benign	Het
Gnpda2	A	G	5: 69,734,752 (GRCm39)	S268P	probably benign	Het
Kif18a	A	C	2: 109,168,941 (GRCm39)	D833A	probably benign	Het
Kmt2a	A	T	9: 44,733,763 (GRCm39)		probably benign	Het
Lsg1	A	G	16: 30,380,613 (GRCm39)	V608A	probably benign	Het
Macir	T	C	1: 97,574,059 (GRCm39)	E2G	probably damaging	Het
Mmrn2	G	A	14: 34,120,632 (GRCm39)	V501M	probably benign	Het
Or13a17	G	A	7: 140,271,013 (GRCm39)	C65Y	probably benign	Het
Ppa2	A	G	3: 133,053,867 (GRCm39)	T186A	probably benign	Het
Rims4	T	A	2: 163,721,126 (GRCm39)	I42F	possibly damaging	Het
Rnf17	A	T	14: 56,705,197 (GRCm39)	E700D	probably benign	Het
Srbd1	T	C	17: 86,410,355 (GRCm39)	T526A	probably benign	Het
Ttn	C	T	2: 76,589,603 (GRCm39)	R21217H	probably damaging	Het
Ubtfl1	T	C	9: 18,320,661 (GRCm39)	I63T	probably damaging	Het
Zfp616	A	G	11: 73,974,268 (GRCm39)	K270R	possibly damaging	Het
Zfp750	G	A	11: 121,402,981 (GRCm39)	P589L	probably benign	Het
Zfr	G	A	15: 12,159,848 (GRCm39)		probably null	Het

Other mutations in Skor2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01476:Skor2	APN	18	76,946,362 (GRCm39)	missense	unknown
IGL01604:Skor2	APN	18	76,947,646 (GRCm39)	missense	possibly damaging	0.93
IGL02306:Skor2	APN	18	76,950,374 (GRCm39)	missense	probably benign	0.01
IGL03287:Skor2	APN	18	76,963,830 (GRCm39)	missense	probably damaging	0.99
R0225:Skor2	UTSW	18	76,946,793 (GRCm39)	missense	unknown
R0265:Skor2	UTSW	18	76,964,293 (GRCm39)	missense	probably damaging	0.99
R0650:Skor2	UTSW	18	76,964,255 (GRCm39)	missense	probably benign	0.32
R1086:Skor2	UTSW	18	76,946,994 (GRCm39)	missense	unknown
R1237:Skor2	UTSW	18	76,963,827 (GRCm39)	nonsense	probably null
R1465:Skor2	UTSW	18	76,964,340 (GRCm39)	splice site	probably benign
R1625:Skor2	UTSW	18	76,946,499 (GRCm39)	missense	unknown
R1682:Skor2	UTSW	18	76,947,211 (GRCm39)	missense	unknown
R1918:Skor2	UTSW	18	76,947,051 (GRCm39)	missense	unknown
R2878:Skor2	UTSW	18	76,948,419 (GRCm39)	nonsense	probably null
R3103:Skor2	UTSW	18	76,946,973 (GRCm39)	nonsense	probably null
R3882:Skor2	UTSW	18	76,950,384 (GRCm39)	missense	probably damaging	0.97
R3891:Skor2	UTSW	18	76,946,350 (GRCm39)	missense	unknown
R4473:Skor2	UTSW	18	76,947,156 (GRCm39)	missense	unknown
R4720:Skor2	UTSW	18	76,948,878 (GRCm39)	critical splice donor site	probably null
R4828:Skor2	UTSW	18	76,948,113 (GRCm39)	missense	probably damaging	1.00
R4906:Skor2	UTSW	18	76,947,990 (GRCm39)	missense	possibly damaging	0.73
R5074:Skor2	UTSW	18	76,946,649 (GRCm39)	nonsense	probably null
R5486:Skor2	UTSW	18	76,946,395 (GRCm39)	missense	unknown
R5729:Skor2	UTSW	18	76,946,578 (GRCm39)	missense	unknown
R5886:Skor2	UTSW	18	76,947,124 (GRCm39)	missense	unknown
R6017:Skor2	UTSW	18	76,946,622 (GRCm39)	missense	unknown
R6514:Skor2	UTSW	18	76,950,389 (GRCm39)	missense	probably damaging	1.00
R6565:Skor2	UTSW	18	76,947,607 (GRCm39)	missense	possibly damaging	0.70
R6909:Skor2	UTSW	18	76,948,252 (GRCm39)	missense	possibly damaging	0.68
R7169:Skor2	UTSW	18	76,948,681 (GRCm39)	missense	probably benign	0.04
R7171:Skor2	UTSW	18	76,948,681 (GRCm39)	missense	probably benign	0.04
R7188:Skor2	UTSW	18	76,947,504 (GRCm39)	missense	possibly damaging	0.53
R7219:Skor2	UTSW	18	76,948,096 (GRCm39)	missense	possibly damaging	0.96
R7548:Skor2	UTSW	18	76,948,600 (GRCm39)	missense	possibly damaging	0.82
R7722:Skor2	UTSW	18	76,950,339 (GRCm39)	missense	probably benign	0.09
R7923:Skor2	UTSW	18	76,946,416 (GRCm39)	missense	unknown
R8125:Skor2	UTSW	18	76,947,373 (GRCm39)	missense	unknown
R8255:Skor2	UTSW	18	76,946,664 (GRCm39)	missense	unknown
R8531:Skor2	UTSW	18	76,946,569 (GRCm39)	missense	unknown
R8548:Skor2	UTSW	18	76,946,581 (GRCm39)	missense	unknown
R8917:Skor2	UTSW	18	76,948,504 (GRCm39)	missense	probably damaging	1.00
R9423:Skor2	UTSW	18	76,948,300 (GRCm39)	missense	probably damaging	0.99
R9445:Skor2	UTSW	18	76,948,811 (GRCm39)	missense	possibly damaging	0.94
R9562:Skor2	UTSW	18	76,946,376 (GRCm39)	missense	unknown
R9563:Skor2	UTSW	18	76,946,376 (GRCm39)	missense	unknown
R9564:Skor2	UTSW	18	76,946,376 (GRCm39)	missense	unknown
R9565:Skor2	UTSW	18	76,946,376 (GRCm39)	missense	unknown
R9673:Skor2	UTSW	18	76,946,376 (GRCm39)	missense	unknown
RF015:Skor2	UTSW	18	76,948,483 (GRCm39)	missense	probably damaging	0.99
Z1176:Skor2	UTSW	18	76,948,856 (GRCm39)	missense	probably damaging	0.99
Z1176:Skor2	UTSW	18	76,948,365 (GRCm39)	missense	possibly damaging	0.93
Z1176:Skor2	UTSW	18	76,947,819 (GRCm39)	missense	probably benign	0.15
Z1177:Skor2	UTSW	18	76,963,788 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAATGATATCCTACTTGCATCGC -3'
(R):5'- GCTACACTTGATGCACTTGGC -3'

Sequencing Primer
(F):5'- GACGCATTGAGCCAACCG -3'
(R):5'- TCGAAGGCGAAGTTGTCC -3'

Posted On

2015-02-19