Mutagenetix > Incidental Mutation

Incidental Mutation 'R5876:Ska1'

455563

Institutional Source

Beutler Lab

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: 0.938) question?

Stock #

R5876 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74328370-74340889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74330599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 201 (T201M)

Ref Sequence

ENSEMBL: ENSMUSP00000137357 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040188
AA Change: T201M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000049156
Gene: ENSMUSG00000036223
AA Change: T201M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000177604
AA Change: T201M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137357
Gene: ENSMUSG00000036223
AA Change: T201M

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034E13Rik	A	G	18: 52,796,654 (GRCm39)	D64G	possibly damaging	Het
Ano2	T	A	6: 126,016,242 (GRCm39)	M925K	possibly damaging	Het
Arnt2	T	C	7: 83,996,720 (GRCm39)	T69A	probably damaging	Het
Asap2	T	A	12: 21,262,810 (GRCm39)	N229K	possibly damaging	Het
Atp13a3	T	A	16: 30,181,552 (GRCm39)	N23Y	probably benign	Het
Cbr4	G	A	8: 61,943,627 (GRCm39)	G91R	possibly damaging	Het
Cdc27	A	T	11: 104,406,244 (GRCm39)	C624S	probably benign	Het
Cdc42bpg	T	A	19: 6,360,845 (GRCm39)	I201N	probably damaging	Het
Cdh5	A	G	8: 104,869,209 (GRCm39)	Y645C	probably damaging	Het
Celsr2	C	T	3: 108,321,259 (GRCm39)	V518I	probably damaging	Het
Clca4b	T	C	3: 144,617,821 (GRCm39)	T761A	possibly damaging	Het
Cpne4	C	A	9: 104,802,969 (GRCm39)	S204R	probably damaging	Het
Dcaf1	T	C	9: 106,740,849 (GRCm39)	W1279R	probably damaging	Het
Dennd4a	C	T	9: 64,819,037 (GRCm39)	P1731S	probably damaging	Het
Dmxl1	T	A	18: 50,004,051 (GRCm39)	V892D	possibly damaging	Het
Fam131b	A	G	6: 42,298,182 (GRCm39)		probably null	Het
Fam83b	T	A	9: 76,399,132 (GRCm39)	D657V	possibly damaging	Het
Fam83e	T	A	7: 45,371,787 (GRCm39)		probably null	Het
Fbxo4	A	T	15: 4,007,301 (GRCm39)	I121N	probably damaging	Het
Gabrg2	A	G	11: 41,859,647 (GRCm39)	S202P	probably damaging	Het
Grid2	T	A	6: 64,640,146 (GRCm39)	I788N	probably damaging	Het
Grik4	T	A	9: 42,599,319 (GRCm39)	N53Y	probably damaging	Het
Hipk2	A	C	6: 38,707,802 (GRCm39)		probably null	Het
Hps5	T	C	7: 46,438,620 (GRCm39)	T38A	probably damaging	Het
Hs1bp3	A	G	12: 8,391,843 (GRCm39)	D315G	possibly damaging	Het
Kdm4a	C	T	4: 117,996,073 (GRCm39)	M985I	probably damaging	Het
Kdm5d	A	G	Y: 900,525 (GRCm39)	Y190C	probably damaging	Het
Krt86	T	C	15: 101,374,491 (GRCm39)	S295P	probably damaging	Het
Matr3	T	A	18: 35,720,791 (GRCm39)	D413E	probably benign	Het
Mbd5	T	A	2: 49,164,657 (GRCm39)	F319L	probably damaging	Het
Mcoln1	T	A	8: 3,560,910 (GRCm39)	Y411N	probably damaging	Het
Mpdz	C	A	4: 81,203,711 (GRCm39)	E1863*	probably null	Het
Mrps9	A	G	1: 42,934,538 (GRCm39)	E173G	probably damaging	Het
Or7a42	A	T	10: 78,791,191 (GRCm39)	I51F	probably benign	Het
Osmr	T	C	15: 6,850,528 (GRCm39)	T692A	probably benign	Het
Pkhd1l1	A	T	15: 44,441,984 (GRCm39)	H3641L	possibly damaging	Het
Pml	T	C	9: 58,140,465 (GRCm39)	T421A	possibly damaging	Het
Podxl	A	G	6: 31,505,391 (GRCm39)		probably null	Het
Ppargc1b	C	G	18: 61,442,164 (GRCm39)	D591H	probably damaging	Het
Prkag3	A	G	1: 74,787,975 (GRCm39)		probably benign	Het
Proz	A	G	8: 13,123,448 (GRCm39)	R240G	probably benign	Het
Ptpn13	C	A	5: 103,624,826 (GRCm39)	D43E	probably damaging	Het
Rbm5	T	G	9: 107,637,525 (GRCm39)	K135N	probably damaging	Het
Slc35f5	A	C	1: 125,515,100 (GRCm39)		probably null	Het
Slc9a3	T	C	13: 74,309,842 (GRCm39)	L510P	probably damaging	Het
Speer4a2	T	C	5: 26,289,716 (GRCm39)	E237G	probably damaging	Het
Svil	A	G	18: 5,082,828 (GRCm39)	K1231E	probably damaging	Het
Tanc2	T	C	11: 105,813,439 (GRCm39)	S1628P	possibly damaging	Het
Tm9sf3	T	A	19: 41,229,023 (GRCm39)	D260V	probably damaging	Het
Ttc9	G	T	12: 81,678,396 (GRCm39)	R73L	probably damaging	Het
Vps13b	A	G	15: 35,917,207 (GRCm39)	I3684V	probably damaging	Het
Vps8	T	C	16: 21,280,189 (GRCm39)		probably null	Het
Vwa3b	T	A	1: 37,115,520 (GRCm39)	I328N	probably damaging	Het
Wdr1	C	T	5: 38,687,366 (GRCm39)	V222M	probably benign	Het
Xpnpep1	T	A	19: 52,985,439 (GRCm39)	T530S	probably damaging	Het
Zc3h6	C	T	2: 128,835,197 (GRCm39)	S111F	probably benign	Het
Zfp768	G	A	7: 126,943,718 (GRCm39)	P137S	probably benign	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
IGL02685:Ska1	APN	18	74,330,119 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCCAGTCTGCAAAGTGAGAC -3'
(R):5'- AAGTGAGTCCTGGTTCTTCTGC -3'

Sequencing Primer
(F):5'- TCTGCAAAGTGAGACAAGGTG -3'
(R):5'- CCAAAAGCATCTATGAGCTC -3'

Posted On

2017-02-10