Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01727:Ska2'

105311

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01727

Quality Score

Status

Chromosome

Chromosomal Location

87000087-87013800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87006973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 26 (L26Q)

Ref Sequence

ENSEMBL: ENSMUSP00000020794 (fasta)

Gene Model

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

AlphaFold

Q9CR46

Predicted Effect

probably damaging
Transcript: ENSMUST00000020794
AA Change: L26Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020794
Gene: ENSMUSG00000020492
AA Change: L26Q

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: ENSMUST00000131202

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142263

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(46) : Gene trapped(46)

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	C	T	11: 46,012,380 (GRCm39)	A292V	probably benign	Het
Ankrd26	A	G	6: 118,488,597 (GRCm39)	L1354P	probably damaging	Het
Aox1	T	A	1: 58,112,387 (GRCm39)	C720*	probably null	Het
Aqp5	T	C	15: 99,489,502 (GRCm39)	L117P	probably damaging	Het
Ccn3	G	A	15: 54,609,634 (GRCm39)	A45T	probably benign	Het
Col9a3	T	C	2: 180,258,358 (GRCm39)		probably null	Het
Ctrc	T	C	4: 141,571,072 (GRCm39)	Y56C	probably damaging	Het
Dsc2	T	A	18: 20,171,257 (GRCm39)	T581S	probably benign	Het
Grap2	T	C	15: 80,518,610 (GRCm39)	I51T	probably damaging	Het
Herc2	A	G	7: 55,787,554 (GRCm39)	Y1737C	probably damaging	Het
Hook3	A	G	8: 26,560,187 (GRCm39)	M346T	probably benign	Het
Lancl1	C	T	1: 67,060,101 (GRCm39)	C108Y	probably damaging	Het
Lpin2	T	C	17: 71,553,447 (GRCm39)	C824R	probably damaging	Het
Mlip	T	C	9: 77,147,030 (GRCm39)	S88G	probably damaging	Het
Mtdh	T	G	15: 34,083,255 (GRCm39)	L25R	probably damaging	Het
Musk	A	G	4: 58,303,887 (GRCm39)	I177V	probably benign	Het
Obi1	G	A	14: 104,716,823 (GRCm39)	R517*	probably null	Het
Or12e13	T	C	2: 87,663,844 (GRCm39)	S154P	probably damaging	Het
Or4c100	A	G	2: 88,356,271 (GRCm39)	M115V	probably benign	Het
Or9i16	A	G	19: 13,865,242 (GRCm39)	C111R	probably damaging	Het
Pabpc4l	C	A	3: 46,401,100 (GRCm39)	E181D	probably damaging	Het
Pcdh18	A	G	3: 49,710,149 (GRCm39)	S389P	probably damaging	Het
Ptk7	A	G	17: 46,883,474 (GRCm39)	Y864H	probably damaging	Het
Rbp4	A	G	19: 38,112,500 (GRCm39)	V155A	probably benign	Het
Rilpl1	C	T	5: 124,669,007 (GRCm39)	A14T	possibly damaging	Het
Rnf148	T	A	6: 23,655,001 (GRCm39)		probably benign	Het
Slc29a2	T	A	19: 5,076,486 (GRCm39)	F125I	probably damaging	Het
Smap2	A	G	4: 120,839,405 (GRCm39)		probably benign	Het
St6galnac2	C	T	11: 116,575,945 (GRCm39)	D169N	probably damaging	Het
Supt7l	A	G	5: 31,677,686 (GRCm39)	V160A	possibly damaging	Het
Susd1	A	G	4: 59,412,329 (GRCm39)		probably benign	Het
Syne1	T	C	10: 4,997,842 (GRCm39)	D375G	probably damaging	Het
Thoc2l	A	G	5: 104,667,379 (GRCm39)	T634A	probably benign	Het
Tpst2	G	A	5: 112,457,724 (GRCm39)	D351N	probably damaging	Het
Trcg1	T	C	9: 57,149,556 (GRCm39)	I376T	probably benign	Het
Trcg1	T	A	9: 57,149,877 (GRCm39)	I483N	probably damaging	Het
Tsga10	T	C	1: 37,874,355 (GRCm39)	E148G	probably damaging	Het
Zranb1	G	T	7: 132,568,349 (GRCm39)	D336Y	probably damaging	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
IGL03341:Ska2	APN	11	87,006,990 (GRCm39)	missense	probably benign	0.01
IGL03344:Ska2	APN	11	87,000,139 (GRCm39)	unclassified	probably benign
N/A - 535:Ska2	UTSW	11	87,008,680 (GRCm39)	splice site	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

Posted On

2014-01-21