Mutagenetix > Incidental Mutation

Incidental Mutation 'R6017:Skor2'

478681

Institutional Source

Beutler Lab

Gene Symbol

Skor2

Ensembl Gene

ENSMUSG00000091519

Gene Name

SKI family transcriptional corepressor 2

Synonyms

Corl2, Fussel18, Gm7348

MMRRC Submission

044191-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76944100-76988037 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76946622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 115 (C115S)

Ref Sequence

ENSEMBL: ENSMUSP00000132338 (fasta)

Gene Model

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

AlphaFold

A7M7C7

Predicted Effect

unknown
Transcript: ENSMUST00000166956
AA Change: C115S

SMART Domains

Protein: ENSMUSP00000132338
Gene: ENSMUSG00000091519
AA Change: C115S

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

Meta Mutation Damage Score

0.9370

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

97% (62/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,325,780 (GRCm39)	I56M	probably damaging	Het
Adgrv1	A	T	13: 81,545,542 (GRCm39)	L5581*	probably null	Het
Arpc2	C	A	1: 74,301,645 (GRCm39)	H193N	probably benign	Het
B3galt5	A	G	16: 96,116,384 (GRCm39)	T6A	probably benign	Het
Bod1l	A	T	5: 41,976,103 (GRCm39)	V1737E	probably benign	Het
Cacfd1	T	G	2: 26,903,440 (GRCm39)		probably benign	Het
Cdc42ep4	A	T	11: 113,620,192 (GRCm39)	D66E	probably benign	Het
Cldn1	G	T	16: 26,181,969 (GRCm39)	T80N	probably damaging	Het
Cmtm1	C	A	8: 105,037,583 (GRCm39)		probably benign	Het
Cntnap5c	A	T	17: 58,411,693 (GRCm39)	I526F	probably benign	Het
Copb1	T	C	7: 113,836,032 (GRCm39)	K450E	probably benign	Het
Crebrf	A	C	17: 26,976,823 (GRCm39)	I416L	probably benign	Het
Csmd3	C	A	15: 48,177,408 (GRCm39)	V377F	possibly damaging	Het
Cyp1a2	T	C	9: 57,588,313 (GRCm39)	K304E	probably damaging	Het
Cyp2d26	A	G	15: 82,674,774 (GRCm39)	S403P	possibly damaging	Het
Cyp4a12a	T	A	4: 115,183,476 (GRCm39)	C198*	probably null	Het
Ddx11	A	G	17: 66,437,012 (GRCm39)	D102G		Het
Dpys	T	A	15: 39,710,114 (GRCm39)	Q105L	probably null	Het
Dsn1	C	A	2: 156,838,162 (GRCm39)	R334L	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epha8	G	T	4: 136,659,054 (GRCm39)	H867N	probably damaging	Het
Ephb3	T	C	16: 21,040,781 (GRCm39)	L643P	probably damaging	Het
Fbxo44	G	T	4: 148,243,010 (GRCm39)	H83Q	probably benign	Het
Gm13102	T	C	4: 143,835,807 (GRCm39)	Y477H	possibly damaging	Het
Gm7347	T	C	5: 26,262,276 (GRCm39)	T82A	probably benign	Het
Gss	C	A	2: 155,429,385 (GRCm39)	A36S	probably benign	Het
Hepacam	A	G	9: 37,292,056 (GRCm39)	D128G	probably benign	Het
Hepacam2	C	A	6: 3,483,332 (GRCm39)	V226F	probably damaging	Het
Hgfac	T	C	5: 35,201,739 (GRCm39)	Y291H	probably damaging	Het
Ip6k2	G	A	9: 108,674,466 (GRCm39)	R88H	probably benign	Het
Irx5	T	A	8: 93,084,878 (GRCm39)	Y23N	probably damaging	Het
Kcnf1	T	C	12: 17,225,082 (GRCm39)	M380V	probably damaging	Het
Kcnj1	A	T	9: 32,305,400 (GRCm39)		probably benign	Het
Kcnk12	T	C	17: 88,054,164 (GRCm39)	E166G	probably damaging	Het
Kctd16	T	C	18: 40,391,996 (GRCm39)	C195R	probably damaging	Het
Kif28	T	A	1: 179,527,018 (GRCm39)	I718F	probably benign	Het
Lce1e	T	A	3: 92,615,240 (GRCm39)	K36*	probably null	Het
Map4	T	C	9: 109,863,687 (GRCm39)	L304P	probably benign	Het
Mettl17	C	T	14: 52,129,074 (GRCm39)		probably benign	Het
Mpp4	T	C	1: 59,160,518 (GRCm39)	D595G	probably damaging	Het
Myo18a	A	G	11: 77,732,349 (GRCm39)	K1282E	probably damaging	Het
Nf2	A	T	11: 4,766,137 (GRCm39)	V131D	possibly damaging	Het
Or7g35	T	C	9: 19,496,730 (GRCm39)	V299A	probably benign	Het
Or8b3	A	T	9: 38,314,916 (GRCm39)	M249L	probably benign	Het
Oxsr1	A	G	9: 119,093,843 (GRCm39)	L270S	probably benign	Het
Plekhg2	G	A	7: 28,062,309 (GRCm39)	T536I	probably damaging	Het
Ppp1r9a	T	A	6: 4,906,363 (GRCm39)	V306D	probably benign	Het
Ptk6	C	T	2: 180,837,605 (GRCm39)	C438Y	probably benign	Het
Scfd1	T	C	12: 51,492,461 (GRCm39)	V590A	probably damaging	Het
Serpina1b	A	G	12: 103,695,531 (GRCm39)	S337P	probably damaging	Het
Slc2a7	T	C	4: 150,249,629 (GRCm39)	S407P	probably damaging	Het
Slc8a1	A	G	17: 81,955,683 (GRCm39)	S452P	probably damaging	Het
Spata31d1c	A	G	13: 65,182,893 (GRCm39)	D145G	possibly damaging	Het
Spata6	C	A	4: 111,632,024 (GRCm39)	T145K	probably damaging	Het
Stab1	C	T	14: 30,863,501 (GRCm39)	R2087H	probably benign	Het
Stk24	C	T	14: 121,539,657 (GRCm39)	V180M	probably benign	Het
Trrap	A	G	5: 144,781,051 (GRCm39)	T3271A	probably damaging	Het
Tyro3	T	A	2: 119,647,147 (GRCm39)	W755R	probably damaging	Het
Ush2a	T	C	1: 188,689,711 (GRCm39)		probably null	Het
Uts2b	T	C	16: 27,179,793 (GRCm39)		probably null	Het
Vmn2r105	T	A	17: 20,428,889 (GRCm39)	H729L	probably damaging	Het
Vps35l	T	A	7: 118,409,144 (GRCm39)	V635D	probably damaging	Het
Wdfy3	T	C	5: 101,999,225 (GRCm39)	I3068V	probably benign	Het
Zfp457	G	A	13: 67,441,763 (GRCm39)	H175Y	probably damaging	Het
Zfp758	A	G	17: 22,592,712 (GRCm39)	D40G	probably damaging	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
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
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'- GGTGATCCTCTATGGCATTCCC -3'
(R):5'- TTGCAGTAGCTACACTTGATGC -3'

Sequencing Primer
(F):5'- CATCGTGTCCTTGGTGATCGAC -3'
(R):5'- CAGTAGCTACACTTGATGCACTTGG -3'

Posted On

2017-06-26