Mutagenetix > Incidental Mutation

Incidental Mutation 'R0225:Skor2'

33886

Institutional Source

Beutler Lab

Gene Symbol

Skor2

Ensembl Gene

ENSMUSG00000091519

Gene Name

SKI family transcriptional corepressor 2

Synonyms

Corl2, Fussel18, Gm7348

MMRRC Submission

038470-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76944100-76988037 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76946793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 172 (I172F)

Ref Sequence

ENSEMBL: ENSMUSP00000132338 (fasta)

Gene Model

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

AlphaFold

A7M7C7

Predicted Effect

unknown
Transcript: ENSMUST00000166956
AA Change: I172F

SMART Domains

Protein: ENSMUSP00000132338
Gene: ENSMUSG00000091519
AA Change: I172F

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

0.9397

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,139,378 (GRCm39)	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,476,584 (GRCm39)	R105Q	probably damaging	Het
Arhgap23	G	T	11: 97,335,154 (GRCm39)	V70L	probably benign	Het
Bicd1	T	C	6: 149,414,448 (GRCm39)	I387T	probably benign	Het
Cd59b	G	A	2: 103,909,286 (GRCm39)		probably null	Het
Chn2	T	C	6: 54,267,436 (GRCm39)		probably benign	Het
Col18a1	T	C	10: 76,924,748 (GRCm39)	S14G	possibly damaging	Het
Col5a2	A	G	1: 45,446,195 (GRCm39)	I461T	probably benign	Het
Dele1	G	A	18: 38,394,317 (GRCm39)	V505I	probably benign	Het
Dnlz	T	C	2: 26,241,380 (GRCm39)	N116S	probably damaging	Het
Esyt2	A	G	12: 116,331,330 (GRCm39)	N736S	probably damaging	Het
F11	T	C	8: 45,702,114 (GRCm39)	T267A	probably benign	Het
Fam234b	T	G	6: 135,194,072 (GRCm39)	S242A	possibly damaging	Het
Gadd45b	A	G	10: 80,766,181 (GRCm39)	N11S	probably benign	Het
Garnl3	T	C	2: 32,896,816 (GRCm39)	T608A	possibly damaging	Het
Gata3	T	C	2: 9,879,620 (GRCm39)	T119A	probably benign	Het
Gm10647	A	G	9: 66,705,777 (GRCm39)		probably benign	Het
Gm10936	G	A	10: 117,084,035 (GRCm39)		noncoding transcript	Het
Gzmd	A	G	14: 56,367,161 (GRCm39)	W244R	probably damaging	Het
Hdac2	T	A	10: 36,865,180 (GRCm39)	D131E	probably benign	Het
Hira	T	A	16: 18,774,921 (GRCm39)	F949I	probably benign	Het
Ighv15-2	T	G	12: 114,528,657 (GRCm39)		probably benign	Het
Il3	A	G	11: 54,156,506 (GRCm39)		probably null	Het
Itgae	A	C	11: 73,002,168 (GRCm39)	M91L	probably benign	Het
Jkampl	A	G	6: 73,446,402 (GRCm39)	L49P	possibly damaging	Het
Kat2b	A	G	17: 53,948,238 (GRCm39)	E336G	probably damaging	Het
Kctd21	T	A	7: 96,997,298 (GRCm39)	I257N	probably benign	Het
Kif23	C	G	9: 61,832,976 (GRCm39)		probably benign	Het
Lgi3	A	T	14: 70,770,261 (GRCm39)	I109L	probably benign	Het
Lhx9	A	T	1: 138,766,417 (GRCm39)	C124S	probably damaging	Het
Lipo4	A	G	19: 33,479,006 (GRCm39)	V278A	probably benign	Het
Lrch3	T	A	16: 32,782,124 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,486,995 (GRCm39)	E142G	probably damaging	Het
Map9	G	A	3: 82,267,290 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,218,657 (GRCm39)		probably benign	Het
Mndal	A	T	1: 173,685,079 (GRCm39)		probably benign	Het
Mug2	G	T	6: 122,051,673 (GRCm39)	V952L	possibly damaging	Het
Nepn	A	T	10: 52,276,533 (GRCm39)	T29S	probably damaging	Het
Or14a260	A	G	7: 85,984,803 (GRCm39)	I267T	probably benign	Het
Or4k5	T	G	14: 50,386,092 (GRCm39)	K80Q	probably damaging	Het
Or8d1b	A	G	9: 38,887,574 (GRCm39)	I201V	probably benign	Het
Or8k53	T	C	2: 86,178,072 (GRCm39)	I13V	possibly damaging	Het
Phf3	A	T	1: 30,844,146 (GRCm39)	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,312,700 (GRCm39)	R53G	probably benign	Het
Prickle1	A	G	15: 93,408,658 (GRCm39)	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,695,459 (GRCm39)	C309S	probably benign	Het
Rapgef2	A	T	3: 79,011,412 (GRCm39)	S224R	probably damaging	Het
Rimoc1	T	C	15: 4,015,776 (GRCm39)	K263E	probably damaging	Het
Siglecg	G	A	7: 43,060,595 (GRCm39)	G325D	probably damaging	Het
Slc9a1	A	G	4: 133,147,916 (GRCm39)	K645E	probably benign	Het
St14	T	A	9: 31,019,580 (GRCm39)		probably null	Het
Tas2r120	T	A	6: 132,634,552 (GRCm39)	Y211*	probably null	Het
Tbxa2r	C	A	10: 81,168,734 (GRCm39)	T141K	possibly damaging	Het
Tpd52l1	A	G	10: 31,255,252 (GRCm39)	S32P	probably damaging	Het
Ttn	T	A	2: 76,540,468 (GRCm39)	R34173W	probably damaging	Het
Ttn	C	A	2: 76,623,474 (GRCm39)	V15368L	possibly damaging	Het
Tyms	A	G	5: 30,268,256 (GRCm39)	I148T	probably damaging	Het
Vmn1r45	A	T	6: 89,910,492 (GRCm39)	Y159*	probably null	Het
Vmn1r58	A	C	7: 5,413,865 (GRCm39)	S122A	probably benign	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Vps13b	T	C	15: 35,887,407 (GRCm39)	I3272T	probably benign	Het
Wfdc8	A	G	2: 164,439,105 (GRCm39)	Y426H	probably benign	Het
Zfp948	A	T	17: 21,807,556 (GRCm39)	K249N	probably damaging	Het
Zfyve1	A	G	12: 83,601,847 (GRCm39)		probably benign	Het
Zyg11a	G	A	4: 108,061,838 (GRCm39)	T321I	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
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

Predicted Primers

PCR Primer
(F):5'- TGGCATGATCACCAAGCGTGAG -3'
(R):5'- AGGGAATCGTCATCGTCGTCGAAG -3'

Sequencing Primer
(F):5'- CCAAGCGTGAGGCCGAG -3'
(R):5'- ACCGTTGAACATGGCCTTG -3'

Posted On

2013-05-09