Mutagenetix > Incidental Mutation

Incidental Mutation 'N/A - 535:Ska2'

212

Institutional Source

Beutler Lab

Gene Symbol

Ska2

Ensembl Gene

ENSMUSG00000020492

Gene Name

spindle and kinetochore associated complex subunit 2

Synonyms

1110001A07Rik, Fam33a

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

N/A - 535 of strain bumble

Quality Score

Status

Validated

Chromosome

Chromosomal Location

87000087-87013800 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 87008680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020794]

AlphaFold

Q9CR46

Predicted Effect

probably benign
Transcript: ENSMUST00000020794

SMART Domains

Protein: ENSMUSP00000020794
Gene: ENSMUSG00000020492

Domain	Start	End	E-Value	Type
Pfam:SKA2	2	115	3.4e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083655

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131202

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142263

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155828

Coding Region Coverage

1x: 83.1%
3x: 57.4%

Validation Efficiency

88% (80/91)

Allele List at MGI

All alleles(46) : Gene trapped(46)

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1e	A	T	1: 154,341,510 (GRCm39)	L1166Q	probably damaging	Het
Cd44	T	C	2: 102,644,534 (GRCm39)	M481V	possibly damaging	Het
Eif4g3	T	A	4: 137,847,739 (GRCm39)	V220D	probably damaging	Het
Gm12778	T	A	7: 33,875,347 (GRCm39)		noncoding transcript	Homo
Klhl29	C	T	12: 5,134,019 (GRCm39)	A773T	probably damaging	Homo
Lifr	A	T	15: 7,216,434 (GRCm39)	H803L	possibly damaging	Het
Macf1	T	C	4: 123,367,601 (GRCm39)	T822A	possibly damaging	Het
Obscn	A	T	11: 58,891,134 (GRCm39)	C1653S	possibly damaging	Het
Ogdh	T	C	11: 6,274,911 (GRCm39)	L180P	possibly damaging	Het
Rnf5	T	C	17: 34,822,330 (GRCm39)	S40G	possibly damaging	Het
Sbf2	T	C	7: 109,911,959 (GRCm39)	T1696A	probably benign	Het

Other mutations in Ska2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Ska2	APN	11	87,000,091 (GRCm39)	unclassified	probably benign
IGL01727:Ska2	APN	11	87,006,973 (GRCm39)	missense	probably damaging	1.00
IGL03341:Ska2	APN	11	87,006,990 (GRCm39)	missense	probably benign	0.01
IGL03344:Ska2	APN	11	87,000,139 (GRCm39)	unclassified	probably benign
R0313:Ska2	UTSW	11	87,008,640 (GRCm39)	missense	possibly damaging	0.46
R1537:Ska2	UTSW	11	87,006,945 (GRCm39)	missense	probably damaging	1.00

Nature of Mutation

DNA sequencing using the SOLiD technique identified a C to T transition at base pair 86931356 in the Genbank genomic region NC_000077 (Build 37.1) for the Fam33a gene on Chromosome 11 (GTAATGTTTC ->GTAATGTTTT). The mutation is located within intron 3 from the ATG exon, ten nucleotides from the previous exon. Three transcripts of the Fam33a gene are displayed on Ensembl. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Fam33a gene encodes a 120 amino acid protein that is a component of SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation. This complex is required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint. The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies. The FAM33A protein is required for SKA1 localization (Uniprot Q9CR46).

Posted On

2010-05-04