Mutagenetix > Incidental Mutation

Incidental Mutation 'R6565:Skor2'

522643

Institutional Source

Beutler Lab

Gene Symbol

Skor2

Ensembl Gene

ENSMUSG00000091519

Gene Name

SKI family transcriptional corepressor 2

Synonyms

Corl2, Fussel18, Gm7348

MMRRC Submission

044689-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6565 (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 G at 76947607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 443 (A443G)

Ref Sequence

ENSEMBL: ENSMUSP00000132338 (fasta)

Gene Model

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

AlphaFold

A7M7C7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166956
AA Change: A443G

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132338
Gene: ENSMUSG00000091519
AA Change: A443G

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: 99.2%
20x: 97.5%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	C	A	15: 60,792,659 (GRCm39)	C96F	probably damaging	Het
Abca7	C	T	10: 79,847,622 (GRCm39)	P1764L	probably damaging	Het
Acvr1	G	A	2: 58,369,769 (GRCm39)	T80M	probably damaging	Het
Adgrb2	T	C	4: 129,913,069 (GRCm39)	L1398P	probably damaging	Het
B4galnt3	G	A	6: 120,194,440 (GRCm39)	Q362*	probably null	Het
Cadm3	G	T	1: 173,169,276 (GRCm39)	Q246K	possibly damaging	Het
Cdc14b	T	C	13: 64,373,444 (GRCm39)	T110A	probably benign	Het
Cyp2c55	A	C	19: 39,030,566 (GRCm39)	D466A	probably benign	Het
Dmrtb1	T	C	4: 107,536,542 (GRCm39)	Y308C	probably damaging	Het
Fat3	T	C	9: 15,826,623 (GRCm39)	D4443G	probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Grin2d	A	G	7: 45,484,179 (GRCm39)	L772P	probably damaging	Het
Gsdme	T	C	6: 50,206,429 (GRCm39)	N138S	probably damaging	Het
Hmgb4	T	A	4: 128,154,388 (GRCm39)	Y60F	probably benign	Het
Ift172	G	A	5: 31,433,227 (GRCm39)	A554V	possibly damaging	Het
Iigp1	T	A	18: 60,523,839 (GRCm39)	V319E	probably damaging	Het
Kit	A	G	5: 75,806,513 (GRCm39)	T673A	probably damaging	Het
Lilra6	A	T	7: 3,918,019 (GRCm39)	W42R	probably benign	Het
Mia3	A	T	1: 183,112,340 (GRCm39)	H477Q	probably damaging	Het
Oas1b	C	A	5: 120,952,611 (GRCm39)	Q101K	possibly damaging	Het
Or2v1	A	G	11: 49,025,639 (GRCm39)	M207V	probably damaging	Het
Or51a5	T	C	7: 102,771,445 (GRCm39)	H178R	probably damaging	Het
Plcl1	T	A	1: 55,737,117 (GRCm39)	C819*	probably null	Het
Pmfbp1	C	T	8: 110,252,060 (GRCm39)	Q402*	probably null	Het
Rps19bp1	CCTTCTTCTTCTTCTTCTTCTT	CCTTCTTCTTCTTCTTCTT	15: 80,145,250 (GRCm39)		probably benign	Het
Tapbpl	A	G	6: 125,205,307 (GRCm39)	V213A	probably benign	Het
Trim52	G	A	14: 106,344,653 (GRCm39)	D104N	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
R6017:Skor2	UTSW	18	76,946,622 (GRCm39)	missense	unknown
R6514:Skor2	UTSW	18	76,950,389 (GRCm39)	missense	probably damaging	1.00
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'- GCTACCCAGTCATCCCAGTG -3'
(R):5'- GGACGTCACTCCTTGCTCTG -3'

Sequencing Primer
(F):5'- AGTCATCCCAGTGCCCAG -3'
(R):5'- ACTCCTTGCTCTGCGGGTG -3'

Posted On

2018-06-06