Mutagenetix > Incidental Mutations

Incidental Mutation 'R5269:Ska3'

400113

Institutional Source

Beutler Lab

Gene Symbol

Ska3

Ensembl Gene

ENSMUSG00000021965

Gene Name

spindle and kinetochore associated complex subunit 3

Synonyms

MMRRC Submission

042834-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R5269 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57806561-57826185 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57822116 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 84 (E84V)

Ref Sequence

ENSEMBL: ENSMUSP00000022536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022536] [ENSMUST00000022538]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022536
AA Change: E84V

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022536
Gene: ENSMUSG00000021965
AA Change: E84V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022538

SMART Domains

Protein: ENSMUSP00000022538
Gene: ENSMUSG00000021967

Domain	Start	End	E-Value	Type
Pfam:MRP-63	13	101	9e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225753

Meta Mutation Damage Score

0.1211

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (71/71)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,376,743	S357P	possibly damaging	Het
Adam39	A	G	8: 40,825,981	I470V	probably benign	Het
Agrn	A	T	4: 156,168,990	C1708S	probably benign	Het
Agtpbp1	A	G	13: 59,473,743	I42T	probably damaging	Het
Akap6	T	C	12: 53,139,843	C1347R	probably damaging	Het
Als2cr12	A	G	1: 58,691,760	S46P	possibly damaging	Het
Antxr1	A	G	6: 87,180,183	L452P	probably damaging	Het
Arhgef33	T	A	17: 80,370,275	V417D	probably damaging	Het
Brca2	A	G	5: 150,539,223	I817M	possibly damaging	Het
Casp4	A	T	9: 5,321,521		probably benign	Het
Cdh20	T	C	1: 104,934,157	Y21H	possibly damaging	Het
Cdr2	C	T	7: 120,958,334	V323M	possibly damaging	Het
Cebpa	G	A	7: 35,119,858	R147H	probably benign	Het
Cetn4	C	A	3: 37,309,969	E31*	probably null	Het
Cobll1	G	A	2: 65,133,771	Q189*	probably null	Het
Colec12	A	G	18: 9,846,825	T74A	possibly damaging	Het
Crisp4	A	G	1: 18,128,710	S124P	probably damaging	Het
Eddm3b	T	A	14: 51,116,721	D55E	probably damaging	Het
Elmo1	C	A	13: 20,449,486	N439K	probably benign	Het
Fabp12	T	C	3: 10,250,107	N60S	probably benign	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat2	T	A	11: 55,287,878	H1452L	probably benign	Het
Flrt2	T	C	12: 95,779,938	V350A	possibly damaging	Het
Ganab	T	C	19: 8,911,937	F626S	probably damaging	Het
Ghr	T	C	15: 3,320,079	Y539C	probably benign	Het
Gm6871	T	C	7: 41,548,101	T112A	probably damaging	Het
Gm7133	T	A	1: 97,183,123		noncoding transcript	Het
Gon4l	A	C	3: 88,895,528	I1149L	probably benign	Het
Greb1l	G	A	18: 10,511,409	D45N	probably benign	Het
H2-K1	A	G	17: 33,997,015		probably benign	Het
Herc2	C	T	7: 56,168,870	R2770*	probably null	Het
Itsn2	A	G	12: 4,633,553		probably benign	Het
Klb	A	G	5: 65,348,797	D129G	probably damaging	Het
Klf1	A	G	8: 84,903,340	I265V	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Map3k10	T	C	7: 27,658,532	E607G	probably benign	Het
Melk	C	T	4: 44,363,730	T592M	probably damaging	Het
Mroh6	A	G	15: 75,885,790	L457P	probably damaging	Het
Mrpl21	T	A	19: 3,287,012	C128S	probably damaging	Het
Olfr564	T	C	7: 102,804,120	V214A	probably benign	Het
Paqr4	G	T	17: 23,738,213	H105Q	probably damaging	Het
Pcdhga10	A	G	18: 37,748,694	I503V	probably benign	Het
Pds5a	T	C	5: 65,663,928	N151S	probably damaging	Het
Pif1	A	G	9: 65,591,829	T444A	possibly damaging	Het
Ppp2r3a	T	C	9: 101,153,865	R851G	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Ros1	T	G	10: 52,051,008	Q2172P	probably damaging	Het
Rpe65	A	G	3: 159,604,347	T86A	probably benign	Het
Rpl18a	G	A	8: 70,896,288	R15C	possibly damaging	Het
Sh3tc2	A	G	18: 61,975,613	K258R	probably benign	Het
Slc25a40	T	A	5: 8,447,409		probably null	Het
Slf1	A	T	13: 77,104,581	S274T	probably benign	Het
Spata21	A	T	4: 141,103,021	Q267H	probably damaging	Het
Strbp	A	T	2: 37,627,443	W207R	possibly damaging	Het
Taf6l	T	C	19: 8,774,962	E454G	probably damaging	Het
Tcam1	C	A	11: 106,285,527	L360I	probably benign	Het
Tnxb	G	A	17: 34,703,608	R2465H	possibly damaging	Het
Trim66	T	A	7: 109,457,590	Y1120F	probably benign	Het
Trp53	T	A	11: 69,589,205	M243K	probably damaging	Het
Ttl	T	A	2: 129,068,911	C72S	probably damaging	Het
Ttn	A	G	2: 76,708,896	V34582A	probably benign	Het
Uqcrh	T	C	4: 116,069,904	T31A	possibly damaging	Het
Usp40	A	G	1: 87,995,782	C256R	probably benign	Het
Vmn1r168	A	G	7: 23,541,414	E232G	probably benign	Het
Wdr72	A	T	9: 74,157,371	I562F	probably damaging	Het
Wnt4	A	G	4: 137,277,750	N24S	probably benign	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
R3773:Ska3	UTSW	14	57810077	missense	probably benign	0.06
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'- TGGCAGTGTGCTGAACTAG -3'
(R):5'- AGGGGCTTACATACTAGAAAGC -3'

Sequencing Primer
(F):5'- GAGGGGATCAATCAACCA -3'
(R):5'- GCTTTTTGGTCTCTCAAGCATAG -3'

Posted On

2016-07-06