Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01604:Skor2'

92690

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01604

Quality Score

Status

Chromosome

Chromosomal Location

76944100-76988037 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76947646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 456 (A456E)

Ref Sequence

ENSEMBL: ENSMUSP00000132338 (fasta)

Gene Model

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

AlphaFold

A7M7C7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166956
AA Change: A456E

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132338
Gene: ENSMUSG00000091519
AA Change: A456E

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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,168,462 (GRCm39)	I1416L	possibly damaging	Het
Abcc4	A	T	14: 118,765,406 (GRCm39)	M992K	possibly damaging	Het
Adnp	A	G	2: 168,026,258 (GRCm39)	S346P	probably damaging	Het
Atad2b	A	T	12: 5,015,837 (GRCm39)		probably benign	Het
Cblif	A	G	19: 11,735,126 (GRCm39)	T249A	probably benign	Het
Ccl12	A	G	11: 81,994,059 (GRCm39)	*105W	probably null	Het
Chd1	A	G	17: 15,990,359 (GRCm39)	D1637G	possibly damaging	Het
Cpeb2	T	C	5: 43,436,038 (GRCm39)		probably null	Het
Cul4a	T	C	8: 13,183,843 (GRCm39)		probably null	Het
Dlg1	T	A	16: 31,675,256 (GRCm39)		probably benign	Het
Fam171b	A	G	2: 83,709,944 (GRCm39)	T539A	possibly damaging	Het
Fcgbpl1	A	G	7: 27,854,749 (GRCm39)	N1792D	probably benign	Het
Gm9696	A	C	3: 59,879,723 (GRCm39)		noncoding transcript	Het
Jmjd1c	T	C	10: 67,085,541 (GRCm39)	F2444L	probably damaging	Het
Knl1	T	A	2: 118,900,482 (GRCm39)	F728I	probably damaging	Het
Megf9	C	A	4: 70,367,028 (GRCm39)	C318F	probably null	Het
Mpi	G	A	9: 57,458,025 (GRCm39)	A59V	possibly damaging	Het
Mrps28	A	G	3: 8,965,130 (GRCm39)	I103T	probably damaging	Het
Msantd2	G	A	9: 37,434,144 (GRCm39)	R329H	probably benign	Het
Myh7b	C	T	2: 155,474,327 (GRCm39)	L1681F	probably damaging	Het
Nf1	C	T	11: 79,332,535 (GRCm39)		probably benign	Het
Or4k52	A	G	2: 111,610,935 (GRCm39)	K90R	possibly damaging	Het
Or5b119	G	A	19: 13,456,612 (GRCm39)		probably benign	Het
Rapgef6	G	A	11: 54,585,389 (GRCm39)	E1596K	probably damaging	Het
Serpinb3b	T	C	1: 107,082,454 (GRCm39)	E270G	probably benign	Het
Slc13a2	A	G	11: 78,294,221 (GRCm39)	I220T	possibly damaging	Het
Slc6a1	T	A	6: 114,291,362 (GRCm39)	M361K	probably damaging	Het
Tars2	G	A	3: 95,647,590 (GRCm39)	R608C	probably damaging	Het
Tctn3	T	C	19: 40,593,746 (GRCm39)		probably null	Het
Tex14	A	G	11: 87,400,524 (GRCm39)	I439V	possibly damaging	Het
Thbs2	T	A	17: 14,899,031 (GRCm39)	I690F	probably benign	Het
Vwa8	A	G	14: 79,418,244 (GRCm39)	I1684V	possibly damaging	Het
Xdh	T	C	17: 74,216,332 (GRCm39)	I705V	probably benign	Het

Other mutations in Skor2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01476:Skor2	APN	18	76,946,362 (GRCm39)	missense	unknown
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
R3611:Skor2	UTSW	18	76,946,533 (GRCm39)	missense	unknown
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

Posted On

2013-12-09