Mutagenetix > Incidental Mutations

Incidental Mutation 'R3773:Ska3'

273454

Institutional Source

Beutler Lab

Gene Symbol

Ska3

Ensembl Gene

ENSMUSG00000021965

Gene Name

spindle and kinetochore associated complex subunit 3

Synonyms

MMRRC Submission

040749-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R3773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57806561-57826185 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 57810077 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 334 (V334I)

Ref Sequence

ENSEMBL: ENSMUSP00000022536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022536] [ENSMUST00000128764]

Predicted Effect

probably benign
Transcript: ENSMUST00000022536
AA Change: V334I

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022536
Gene: ENSMUSG00000021965
AA Change: V334I

Domain	Start	End	E-Value	Type
PDB:4AJ5\|Z	1	101	3e-46	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000128764

SMART Domains

Protein: ENSMUSP00000120071
Gene: ENSMUSG00000021963

Domain	Start	End	E-Value	Type
Pfam:SAP18	38	156	2e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225646

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	C	17: 56,876,262	M1T	probably null	Het
1810041L15Rik	A	T	15: 84,406,685	Y120*	probably null	Het
A2ml1	T	A	6: 128,555,083	K899N	probably benign	Het
Adgrv1	G	A	13: 81,499,043	S3126L	probably damaging	Het
Apba3	C	A	10: 81,272,609		probably null	Het
Apobec4	G	T	1: 152,756,805	A195S	probably benign	Het
Asap3	C	T	4: 136,227,575	T72I	probably benign	Het
BC067074	A	G	13: 113,318,209	E263G	probably benign	Het
Cand2	T	A	6: 115,785,217	H201Q	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Chd1	A	G	17: 17,374,651	D16G	probably damaging	Het
Csgalnact2	T	C	6: 118,126,219	K19E	probably benign	Het
Cyp17a1	T	G	19: 46,669,723	K250T	probably damaging	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Dgcr8	T	C	16: 18,256,775	D712G	probably damaging	Het
Dsg2	T	C	18: 20,591,862	W442R	probably damaging	Het
Elavl2	C	T	4: 91,264,088	G131R	probably damaging	Het
Elf1	T	C	14: 79,567,210	V105A	possibly damaging	Het
Ercc6l2	A	G	13: 63,841,450	D270G	probably damaging	Het
Fmn1	T	G	2: 113,582,118	S996A	probably damaging	Het
Frmd4a	A	T	2: 4,590,622	E109D	probably damaging	Het
Fry	A	T	5: 150,398,198	R999S	probably damaging	Het
Gak	G	A	5: 108,582,672	T956I	probably benign	Het
Gm6614	T	C	6: 141,972,335	K605R	probably benign	Het
Gm9008	C	T	6: 76,496,959	V225I	probably benign	Het
Gps2	T	C	11: 69,916,101	F21L	probably damaging	Het
Grhl3	C	T	4: 135,555,847	W303*	probably null	Het
Hmcn2	C	T	2: 31,360,896	T790M	probably damaging	Het
Lrp5	G	A	19: 3,612,330	R173C	probably damaging	Het
Matk	T	A	10: 81,258,297	L21Q	probably benign	Het
Mthfr	T	C	4: 148,044,450	V160A	probably benign	Het
Nhlrc4	T	A	17: 25,943,393	K127*	probably null	Het
Nsd1	G	A	13: 55,246,673	V696I	probably benign	Het
Nup210l	T	G	3: 90,119,894	Y194*	probably null	Het
Olfr1497	T	A	19: 13,795,204	M136L	probably benign	Het
Olfr345	A	T	2: 36,640,321	Y94F	probably benign	Het
Olfr57	G	A	10: 79,035,180	C128Y	possibly damaging	Het
Olfr90	G	T	17: 37,086,065	Y33*	probably null	Het
Pcdhb15	T	A	18: 37,475,890	V725D	probably benign	Het
Pes1	A	G	11: 3,975,548	Y221C	probably damaging	Het
Prkd3	T	C	17: 78,959,106	I603V	possibly damaging	Het
Ptpn13	A	G	5: 103,477,121	E97G	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,428,978	T152A	possibly damaging	Het
Rims1	T	C	1: 22,421,810	D842G	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rngtt	T	C	4: 33,330,889	I164T	probably damaging	Het
Scn9a	T	C	2: 66,483,648	N1909D	probably benign	Het
Srebf2	A	G	15: 82,182,108	K579R	probably benign	Het
Stxbp5	G	A	10: 9,768,927	T960I	probably damaging	Het
Suco	A	T	1: 161,843,996		probably null	Het
Tecta	T	C	9: 42,330,996	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,694,880	R227W	probably damaging	Het
Tmem131l	A	G	3: 83,898,586	S1517P	probably damaging	Het
Trio	A	G	15: 27,748,091	S2492P	probably damaging	Het
Tsg101	T	C	7: 46,889,615	*254W	probably null	Het
Ttn	T	C	2: 76,771,367	T16872A	probably benign	Het
Ugt2b38	A	G	5: 87,424,095	V26A	probably damaging	Het
Upb1	T	A	10: 75,439,838		probably null	Het
Vmn1r32	T	A	6: 66,553,367	I142F	probably benign	Het
Vmn1r60	C	A	7: 5,544,711	C130F	possibly damaging	Het
Vmn2r101	A	G	17: 19,589,657	D235G	probably benign	Het
Wnk1	C	T	6: 120,002,280	R282Q	possibly damaging	Het
Xrn2	T	C	2: 147,061,287	V765A	probably benign	Het
Zbed4	T	C	15: 88,780,847	S373P	probably benign	Het
Zfp251	A	G	15: 76,853,636	I414T	possibly damaging	Het
Zfp423	A	T	8: 87,780,512	L1047Q	probably benign	Het
Zfp426	A	T	9: 20,473,117		probably null	Het
Zfp61	T	C	7: 24,295,981	M1V	probably null	Het

Other mutations in Ska3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00961:Ska3	APN	14	57822124	missense	possibly damaging	0.95
IGL01969:Ska3	APN	14	57811662	missense	probably benign	0.00
IGL02539:Ska3	APN	14	57820511	missense	possibly damaging	0.86
IGL02665:Ska3	APN	14	57822072	missense	probably damaging	1.00
R1276:Ska3	UTSW	14	57820269	missense	probably damaging	1.00
R3737:Ska3	UTSW	14	57811596	missense	probably benign	0.00
R3738:Ska3	UTSW	14	57811596	missense	probably benign	0.00
R3771:Ska3	UTSW	14	57810077	missense	probably benign	0.06
R3772:Ska3	UTSW	14	57810077	missense	probably benign	0.06
R5269:Ska3	UTSW	14	57822116	missense	possibly damaging	0.87
R6088:Ska3	UTSW	14	57816694	missense	probably benign	0.01
R6320:Ska3	UTSW	14	57816691	missense	probably benign	0.04
R7792:Ska3	UTSW	14	57810055	missense	probably damaging	0.97
R8108:Ska3	UTSW	14	57826102	missense	probably damaging	1.00
R8362:Ska3	UTSW	14	57816648	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- GCGATTGCAGTTTTCTAACACAG -3'
(R):5'- CAGTCAGGAAGATGGGATCATTC -3'

Sequencing Primer
(F):5'- TCGCAGTAACTTTCGGAG -3'
(R):5'- ATCATTCAGGGTCTGCCTTAG -3'

Posted On

2015-03-25