Mutagenetix > Incidental Mutation

Incidental Mutation 'R9565:Skor2'

721552

Institutional Source

Beutler Lab

Gene Symbol

Skor2

Ensembl Gene

ENSMUSG00000091519

Gene Name

SKI family transcriptional corepressor 2

Synonyms

Corl2, Fussel18, Gm7348

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9565 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76944100-76988037 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76946376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 33 (H33Y)

Ref Sequence

ENSEMBL: ENSMUSP00000132338 (fasta)

Gene Model

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

AlphaFold

A7M7C7

Predicted Effect

unknown
Transcript: ENSMUST00000166956
AA Change: H33Y

SMART Domains

Protein: ENSMUSP00000132338
Gene: ENSMUSG00000091519
AA Change: H33Y

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	G	A	15: 81,773,635 (GRCm39)	R58Q	probably null	Het
Actl11	A	T	9: 107,808,121 (GRCm39)	T815S	possibly damaging	Het
Actr5	A	G	2: 158,470,135 (GRCm39)	D255G	probably damaging	Het
Acvr1	T	C	2: 58,338,385 (GRCm39)	K446E	probably damaging	Het
Adam39	T	C	8: 41,277,755 (GRCm39)	Y49H	probably benign	Het
Adcy7	TGG	TG	8: 89,053,053 (GRCm39)		probably null	Het
Amn1	C	T	6: 149,090,103 (GRCm39)		probably benign	Het
Ankdd1a	C	T	9: 65,411,452 (GRCm39)	A352T	possibly damaging	Het
Aoc1l2	T	C	6: 48,907,909 (GRCm39)	M303T	probably benign	Het
Arl4c	A	G	1: 88,629,134 (GRCm39)	C85R	probably damaging	Het
Asgr2	T	A	11: 69,996,310 (GRCm39)		probably null	Het
Bdkrb1	G	A	12: 105,571,078 (GRCm39)	V215I	probably benign	Het
Btn2a2	C	A	13: 23,662,848 (GRCm39)	K367N	possibly damaging	Het
Btnl10	T	A	11: 58,813,189 (GRCm39)	F273I	probably benign	Het
C7	T	A	15: 5,086,579 (GRCm39)		probably null	Het
Cap1	A	G	4: 122,758,505 (GRCm39)	V225A	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ccdc18	A	G	5: 108,339,800 (GRCm39)	T782A	probably damaging	Het
Ccdc187	T	C	2: 26,183,698 (GRCm39)	S101G	possibly damaging	Het
Ccdc30	T	C	4: 119,250,821 (GRCm39)	N141S	possibly damaging	Het
Cdc42bpg	T	G	19: 6,370,696 (GRCm39)	L1263R	probably damaging	Het
Cdc42ep1	A	T	15: 78,733,782 (GRCm39)	H294L	probably benign	Het
Cdk12	A	G	11: 98,140,628 (GRCm39)	N1290D	unknown	Het
Ces1g	A	G	8: 94,061,792 (GRCm39)	V38A	probably benign	Het
Cntnap4	A	C	8: 113,582,982 (GRCm39)	Y1020S	probably benign	Het
Col7a1	T	C	9: 108,791,809 (GRCm39)	V1232A	unknown	Het
Ctdsp2	A	G	10: 126,832,040 (GRCm39)	D216G	probably damaging	Het
Cyp2j6	A	G	4: 96,414,245 (GRCm39)	I340T	probably damaging	Het
Cyp4f37	A	G	17: 32,844,205 (GRCm39)	D103G	possibly damaging	Het
Dlgap1	T	G	17: 70,964,458 (GRCm39)	N400K	probably benign	Het
Dnaaf9	G	A	2: 130,648,711 (GRCm39)	T257M	unknown	Het
Dnah1	C	A	14: 30,986,394 (GRCm39)	A3698S	probably damaging	Het
Dnah12	C	A	14: 26,597,281 (GRCm39)	R3547S	possibly damaging	Het
Dnah3	A	G	7: 119,610,114 (GRCm39)	V1774A	probably benign	Het
Drc7	A	G	8: 95,801,866 (GRCm39)	E709G	probably damaging	Het
Dsc1	T	A	18: 20,240,791 (GRCm39)	D178V	probably damaging	Het
Duox1	T	C	2: 122,151,203 (GRCm39)	Y293H	probably damaging	Het
Elp1	G	T	4: 56,772,521 (GRCm39)	P867T	probably benign	Het
Epas1	T	A	17: 87,112,667 (GRCm39)	D88E	probably damaging	Het
Epdr1	A	G	13: 19,778,821 (GRCm39)	F92L	possibly damaging	Het
Eri3	T	A	4: 117,422,013 (GRCm39)	V136E	probably benign	Het
Espl1	T	A	15: 102,228,233 (GRCm39)	I1669N	possibly damaging	Het
Etv6	A	G	6: 134,225,672 (GRCm39)	N212S	probably benign	Het
Fam186b	A	T	15: 99,176,685 (GRCm39)	L735Q	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fan1	A	G	7: 63,999,240 (GRCm39)	L874P	possibly damaging	Het
Fancm	A	G	12: 65,168,494 (GRCm39)	N1619S	probably damaging	Het
Fbln5	A	T	12: 101,734,722 (GRCm39)	N183K	probably damaging	Het
Fbn2	T	C	18: 58,228,298 (GRCm39)	H746R	probably benign	Het
Fbxw17	T	C	13: 50,579,605 (GRCm39)	W141R	probably damaging	Het
Fbxw25	T	A	9: 109,483,676 (GRCm39)	N179Y		Het
Gbe1	A	T	16: 70,198,664 (GRCm39)	Y119F	probably benign	Het
Gcnt7	T	A	2: 172,293,180 (GRCm39)	Y369F	probably damaging	Het
Gdf9	T	A	11: 53,327,511 (GRCm39)	S156T	probably damaging	Het
Gm14295	T	C	2: 176,499,162 (GRCm39)	V4A	probably benign	Het
Gm8369	A	C	19: 11,489,015 (GRCm39)	T101P	probably benign	Het
Herc3	A	G	6: 58,835,999 (GRCm39)	N280S	probably null	Het
Hipk2	T	A	6: 38,724,390 (GRCm39)	R447W	probably damaging	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hltf	G	A	3: 20,136,996 (GRCm39)		probably null	Het
Ik	C	A	18: 36,886,959 (GRCm39)	D397E	probably benign	Het
Inka1	T	A	9: 107,861,488 (GRCm39)	Y276F	probably benign	Het
Kcnc1	G	A	7: 46,077,010 (GRCm39)	V271M	probably benign	Het
Kif21b	A	T	1: 136,077,090 (GRCm39)	I371F	probably damaging	Het
Klrc1	A	G	6: 129,655,746 (GRCm39)	F43S	probably damaging	Het
Krt8	A	G	15: 101,912,460 (GRCm39)	V72A	probably benign	Het
Krtap6-2	A	G	16: 89,216,722 (GRCm39)	S82P	unknown	Het
Lrrc15	G	A	16: 30,093,016 (GRCm39)	L108F	probably damaging	Het
Lvrn	T	G	18: 47,017,506 (GRCm39)	I612S	probably damaging	Het
Map3k3	T	A	11: 106,041,860 (GRCm39)	I413N	probably damaging	Het
Mark3	A	G	12: 111,570,960 (GRCm39)	I87V	probably damaging	Het
Mki67	GTT	GTTT	7: 135,309,233 (GRCm39)		probably null	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrgprb2	G	A	7: 48,202,674 (GRCm39)	T17M	possibly damaging	Het
Msantd5f4	G	T	4: 73,557,190 (GRCm39)	V8F	probably damaging	Het
Myh3	C	T	11: 66,983,187 (GRCm39)	R905*	probably null	Het
Myh8	T	C	11: 67,177,215 (GRCm39)	V427A	probably benign	Het
Myocd	T	C	11: 65,078,209 (GRCm39)	K529E	probably damaging	Het
Myom2	A	T	8: 15,158,399 (GRCm39)	K784*	probably null	Het
Or1l4	G	T	2: 37,091,575 (GRCm39)	M107I	probably benign	Het
Or2w25	T	G	11: 59,504,339 (GRCm39)	I183S	probably damaging	Het
Or6c33	T	C	10: 129,853,287 (GRCm39)	I19T	probably benign	Het
Pabpc4	T	C	4: 123,180,653 (GRCm39)	I125T	probably damaging	Het
Parp14	A	G	16: 35,677,775 (GRCm39)	I731T	probably benign	Het
Pde6c	T	A	19: 38,147,008 (GRCm39)		probably null	Het
Pias3	T	A	3: 96,610,867 (GRCm39)	C391S	possibly damaging	Het
Pknox2	A	T	9: 36,835,067 (GRCm39)	M134K	probably damaging	Het
Pot1b	A	G	17: 55,969,465 (GRCm39)	S568P	possibly damaging	Het
Ppp1r3a	T	A	6: 14,719,466 (GRCm39)	T483S	probably benign	Het
Rag1	A	T	2: 101,473,327 (GRCm39)	V605E	probably damaging	Het
Relch	T	C	1: 105,591,876 (GRCm39)	V15A	probably damaging	Het
Ros1	T	C	10: 51,943,170 (GRCm39)	D2048G	probably damaging	Het
Rp2	A	G	X: 20,243,781 (GRCm39)	D252G	probably benign	Het
Rpgrip1l	A	C	8: 92,031,516 (GRCm39)	H120Q	probably benign	Het
Rpl24	T	A	16: 55,790,509 (GRCm39)	S122T	probably benign	Het
Sec61b	A	G	4: 47,483,049 (GRCm39)	Y93C	probably damaging	Het
Sema6a	A	T	18: 47,382,594 (GRCm39)	L651Q	probably null	Het
Serpinb6a	T	A	13: 34,102,400 (GRCm39)	K275I	probably damaging	Het
Skic2	C	T	17: 35,063,758 (GRCm39)	A562T	probably benign	Het
Slc26a7	T	C	4: 14,519,496 (GRCm39)	N508S	probably benign	Het
Slc2a4	A	G	11: 69,837,173 (GRCm39)	F88L	probably damaging	Het
Slc8b1	A	G	5: 120,665,865 (GRCm39)	T399A	probably benign	Het
Slfn5	A	T	11: 82,847,699 (GRCm39)	M195L	possibly damaging	Het
Snx17	C	A	5: 31,355,088 (GRCm39)	Q368K	probably damaging	Het
Tasor	T	C	14: 27,201,766 (GRCm39)		probably null	Het
Tbcb	A	T	7: 29,930,549 (GRCm39)		probably null	Het
Telo2	A	G	17: 25,334,199 (GRCm39)	I16T	probably benign	Het
Timm50	A	G	7: 28,007,069 (GRCm39)	F202S	possibly damaging	Het
Tle2	A	G	10: 81,417,567 (GRCm39)	D244G	probably benign	Het
Tlr4	G	A	4: 66,759,522 (GRCm39)	V772I	possibly damaging	Het
Tmem214	G	A	5: 31,027,043 (GRCm39)	W11*	probably null	Het
Top2b	A	C	14: 16,365,718 (GRCm38)	T14P	probably benign	Het
Trim44	T	C	2: 102,187,827 (GRCm39)	T309A	probably benign	Het
Tuba8	A	G	6: 121,200,063 (GRCm39)	N249S	probably benign	Het
Tubb4a	A	G	17: 57,388,027 (GRCm39)	V333A	probably benign	Het
Ugdh	C	A	5: 65,575,876 (GRCm39)	D328Y	possibly damaging	Het
Vmn1r189	A	G	13: 22,286,426 (GRCm39)	L137P	probably damaging	Het
Vmn1r208	A	G	13: 22,956,789 (GRCm39)	V236A	probably damaging	Het
Vmn2r29	A	T	7: 7,244,855 (GRCm39)	W340R	probably benign	Het
Vmn2r52	A	C	7: 9,893,476 (GRCm39)	D554E	probably benign	Het
Wdr36	C	T	18: 32,994,168 (GRCm39)	Q669*	probably null	Het
Wiz	G	T	17: 32,575,939 (GRCm39)	D812E	probably benign	Het
Zfp777	A	T	6: 48,021,580 (GRCm39)	V14D	possibly 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
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
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'- CCCCTCTGTCTTAAAACAGGAAAGG -3'
(R):5'- AGTTGGACAGGTGTGCACTG -3'

Sequencing Primer
(F):5'- GGAAAGGTTCAAGTCAACTTTCTCC -3'
(R):5'- TGAGAAGAGTGTTGGAGATC -3'

Posted On

2022-08-09