Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02685:Ska1'

303517

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ska1

Ensembl Gene

ENSMUSG00000036223

Gene Name

spindle and kinetochore associated complex subunit 1

Synonyms

2810433K01Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

IGL02685

Quality Score

Status

Chromosome

Chromosomal Location

74328370-74340889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74330119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 207 (H207L)

Ref Sequence

ENSEMBL: ENSMUSP00000137357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040188] [ENSMUST00000177604]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040188
AA Change: H207L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000049156
Gene: ENSMUSG00000036223
AA Change: H207L

Domain	Start	End	E-Value	Type
Pfam:DUF1395	15	247	2.2e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177604
AA Change: H207L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000137357
Gene: ENSMUSG00000036223
AA Change: H207L

Domain	Start	End	E-Value	Type
Pfam:DUF1395	15	249	6.2e-106	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,869,682 (GRCm39)	Y779C	probably damaging	Het
Acad10	A	G	5: 121,770,672 (GRCm39)	F532L	probably benign	Het
Adgrb3	A	T	1: 25,123,323 (GRCm39)		probably null	Het
Akr1d1	T	C	6: 37,507,278 (GRCm39)		probably benign	Het
Aqp11	A	G	7: 97,386,759 (GRCm39)	Y146H	probably damaging	Het
Cdh2	A	T	18: 16,779,557 (GRCm39)	L168Q	probably damaging	Het
Ces2f	C	T	8: 105,679,730 (GRCm39)	Q277*	probably null	Het
Cmya5	G	A	13: 93,227,505 (GRCm39)	Q2528*	probably null	Het
Col22a1	A	G	15: 71,673,764 (GRCm39)	V984A	unknown	Het
Col5a3	T	C	9: 20,683,501 (GRCm39)	D1557G	unknown	Het
Cpb1	A	T	3: 20,319,520 (GRCm39)	V188E	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Ephb1	G	T	9: 101,918,302 (GRCm39)	Y402*	probably null	Het
Foxm1	T	C	6: 128,350,070 (GRCm39)	L319S	possibly damaging	Het
Gmppb	T	C	9: 107,927,118 (GRCm39)		probably benign	Het
Grid2	T	G	6: 64,322,800 (GRCm39)	M600R	possibly damaging	Het
Gstm6	T	C	3: 107,848,507 (GRCm39)	K57E	probably benign	Het
Hars2	T	G	18: 36,924,171 (GRCm39)	S422A	probably benign	Het
Igdcc4	T	C	9: 65,041,107 (GRCm39)	M1092T	possibly damaging	Het
Ighv13-1	C	A	12: 114,231,403 (GRCm39)		probably benign	Het
Iqgap2	C	A	13: 95,807,912 (GRCm39)	R785L	probably damaging	Het
Kalrn	G	A	16: 34,334,329 (GRCm39)	Q8*	probably null	Het
Mms22l	A	G	4: 24,591,133 (GRCm39)	T1035A	probably benign	Het
Myo1b	A	G	1: 51,817,658 (GRCm39)	Y535H	probably damaging	Het
Neb	T	A	2: 52,065,313 (GRCm39)	K6234N	possibly damaging	Het
Nlrp9c	A	G	7: 26,084,982 (GRCm39)	I199T	probably damaging	Het
Or10ak7	A	T	4: 118,791,134 (GRCm39)	F304I	possibly damaging	Het
Or4c108	T	A	2: 88,803,365 (GRCm39)	N290I	possibly damaging	Het
Or52h9	C	A	7: 104,202,357 (GRCm39)	T77K	probably benign	Het
Or7g32	T	C	9: 19,408,098 (GRCm39)	I18T	probably benign	Het
Osmr	T	C	15: 6,845,054 (GRCm39)	E904G	probably benign	Het
Pde8b	T	C	13: 95,162,628 (GRCm39)	*831W	probably null	Het
Prkdc	T	C	16: 15,653,907 (GRCm39)	V3888A	possibly damaging	Het
Scn9a	C	A	2: 66,367,637 (GRCm39)	S693I	probably damaging	Het
Sepsecs	T	C	5: 52,804,534 (GRCm39)	T379A	probably benign	Het
Slc17a9	C	A	2: 180,375,602 (GRCm39)	Q175K	probably damaging	Het
Slc38a2	G	A	15: 96,589,306 (GRCm39)	T396I	probably benign	Het
Slc9a4	A	C	1: 40,668,742 (GRCm39)	H795P	probably benign	Het
Sorbs2	C	T	8: 46,256,877 (GRCm39)	T955I	probably benign	Het
Spata4	A	T	8: 55,053,963 (GRCm39)	H43L	probably benign	Het
Ss18l2	G	A	9: 121,539,484 (GRCm39)	A6T	possibly damaging	Het
Sult1e1	C	T	5: 87,727,765 (GRCm39)	W172*	probably null	Het
Tlcd1	T	C	11: 78,070,363 (GRCm39)		probably benign	Het
Tmc8	T	C	11: 117,683,400 (GRCm39)	S652P	probably damaging	Het
Vps37b	T	C	5: 124,148,874 (GRCm39)	S54G	probably damaging	Het
Wdr26	A	T	1: 181,011,345 (GRCm39)	S511T	possibly damaging	Het
Zfhx4	A	G	3: 5,477,213 (GRCm39)	Y3251C	probably damaging	Het

Other mutations in Ska1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02146:Ska1	APN	18	74,329,981 (GRCm39)	missense	possibly damaging	0.88
R0831:Ska1	UTSW	18	74,330,570 (GRCm39)	splice site	probably benign
R2087:Ska1	UTSW	18	74,339,920 (GRCm39)	missense	probably benign	0.06
R2232:Ska1	UTSW	18	74,330,137 (GRCm39)	splice site	probably null
R4658:Ska1	UTSW	18	74,330,111 (GRCm39)	missense	probably benign	0.01
R5671:Ska1	UTSW	18	74,330,067 (GRCm39)	missense	probably damaging	1.00
R5876:Ska1	UTSW	18	74,330,599 (GRCm39)	missense	probably damaging	1.00
R6019:Ska1	UTSW	18	74,332,992 (GRCm39)	missense	probably benign	0.13
R6049:Ska1	UTSW	18	74,335,671 (GRCm39)	missense	probably benign	0.00
R6885:Ska1	UTSW	18	74,339,910 (GRCm39)	missense	probably benign	0.41
R7549:Ska1	UTSW	18	74,333,088 (GRCm39)	missense	probably benign	0.01
R7701:Ska1	UTSW	18	74,335,714 (GRCm39)	missense	probably damaging	1.00
R7757:Ska1	UTSW	18	74,330,044 (GRCm39)	missense	probably benign	0.00
R8141:Ska1	UTSW	18	74,339,907 (GRCm39)	missense	probably benign	0.20
R8266:Ska1	UTSW	18	74,337,412 (GRCm39)	missense	probably benign	0.15
R8963:Ska1	UTSW	18	74,330,639 (GRCm39)	missense	probably damaging	0.96
R9671:Ska1	UTSW	18	74,333,010 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16