Mutagenetix > Incidental Mutation

Incidental Mutation 'R6088:Ska3'

486109

Institutional Source

Beutler Lab

Gene Symbol

Ska3

Ensembl Gene

ENSMUSG00000021965

Gene Name

spindle and kinetochore associated complex subunit 3

Synonyms

F630043A04Rik

MMRRC Submission

044245-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R6088 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58044018-58063642 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58054151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 266 (D266E)

Ref Sequence

ENSEMBL: ENSMUSP00000022536 (fasta)

Gene Model

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

AlphaFold

Q8C263

Predicted Effect

probably benign
Transcript: ENSMUST00000022536
AA Change: D266E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000022536
Gene: ENSMUSG00000021965
AA Change: D266E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225646

Meta Mutation Damage Score

0.0742

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.9%

Validation Efficiency

98% (59/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	G	T	18: 59,035,174 (GRCm39)	V360F	probably damaging	Het
Ankrd17	C	T	5: 90,401,547 (GRCm39)	E1605K	possibly damaging	Het
Arid4a	A	G	12: 71,069,010 (GRCm39)	D54G	probably damaging	Het
Baz2a	TCTCCTC	TCTC	10: 127,950,511 (GRCm39)		probably benign	Het
Bltp3a	G	A	17: 28,103,579 (GRCm39)		probably null	Het
Card6	A	T	15: 5,134,501 (GRCm39)	V234E	possibly damaging	Het
Cd1d1	G	T	3: 86,906,009 (GRCm39)	Q89K	probably benign	Het
Ciita	G	A	16: 10,329,795 (GRCm39)	R693K	probably damaging	Het
Cox7a2l	G	T	17: 83,811,401 (GRCm39)	L77I	probably benign	Het
Crybg2	A	T	4: 133,803,101 (GRCm39)		probably null	Het
Cts8	T	C	13: 61,401,780 (GRCm39)	N39S	probably benign	Het
Def8	G	T	8: 124,186,787 (GRCm39)	E456*	probably null	Het
Dld	A	G	12: 31,390,988 (GRCm39)	F153L	probably benign	Het
Elf1	C	T	14: 79,804,701 (GRCm39)	T122I	probably benign	Het
Emilin2	T	C	17: 71,562,119 (GRCm39)	N961S	probably benign	Het
Esp24	A	G	17: 39,350,901 (GRCm39)	I34V	probably benign	Het
Fam184b	C	A	5: 45,741,354 (GRCm39)	K292N	probably damaging	Het
Gabrg3	T	A	7: 56,634,826 (GRCm39)	N119I	probably damaging	Het
Gucy1b1	T	C	3: 81,942,187 (GRCm39)	H524R	probably damaging	Het
Kcp	A	T	6: 29,502,631 (GRCm39)	S205T	probably benign	Het
Klb	C	T	5: 65,506,356 (GRCm39)	T201M	probably benign	Het
Lamp3	A	T	16: 19,492,148 (GRCm39)	F365L	probably damaging	Het
Mad1l1	T	A	5: 140,179,718 (GRCm39)	H390L	probably benign	Het
Mlxipl	T	C	5: 135,162,884 (GRCm39)	Y711H	possibly damaging	Het
Myo5b	T	A	18: 74,853,969 (GRCm39)	L1196Q	possibly damaging	Het
Ndufb8	A	G	19: 44,543,464 (GRCm39)	S70P	probably benign	Het
Neb	T	C	2: 52,099,354 (GRCm39)	D4832G	probably damaging	Het
Niban2	T	C	2: 32,813,135 (GRCm39)	V540A	probably damaging	Het
Nr5a1	T	C	2: 38,592,007 (GRCm39)	D322G	probably benign	Het
Or1e1d-ps1	A	T	11: 73,819,649 (GRCm39)	T273S	probably benign	Het
Or5ak20	T	A	2: 85,183,698 (GRCm39)	S191C	probably damaging	Het
Oscar	G	A	7: 3,614,311 (GRCm39)	P143S	probably benign	Het
Oxa1l	T	A	14: 54,605,151 (GRCm39)		probably null	Het
Pafah2	A	G	4: 134,140,692 (GRCm39)	I221V	probably benign	Het
Pibf1	T	A	14: 99,416,794 (GRCm39)	F456I	probably benign	Het
Pla2g4d	C	T	2: 120,100,487 (GRCm39)	G615D	probably damaging	Het
Plekhg2	C	T	7: 28,060,438 (GRCm39)	V964I	probably benign	Het
Ppip5k1	C	A	2: 121,167,944 (GRCm39)	V770L	probably benign	Het
Ppl	A	T	16: 4,922,852 (GRCm39)	L213Q	possibly damaging	Het
Ptprf	G	A	4: 118,067,952 (GRCm39)	T1785I	possibly damaging	Het
Pycr2	G	A	1: 180,733,801 (GRCm39)	G131E	probably damaging	Het
Rbpj	C	T	5: 53,808,710 (GRCm39)		probably null	Het
Rcc1	G	T	4: 132,060,153 (GRCm39)	D430E	probably benign	Het
Rhbdf1	A	G	11: 32,162,007 (GRCm39)	V525A	possibly damaging	Het
Samd7	G	A	3: 30,810,632 (GRCm39)	M216I	probably benign	Het
Slc1a7	G	A	4: 107,869,641 (GRCm39)	V569M	probably damaging	Het
Slc26a1	C	T	5: 108,821,872 (GRCm39)	E6K	possibly damaging	Het
Slc4a4	T	A	5: 89,345,563 (GRCm39)	V741E	probably benign	Het
St6galnac3	C	T	3: 152,912,352 (GRCm39)	G164S	probably damaging	Het
Tgs1	T	A	4: 3,595,383 (GRCm39)	N517K	probably benign	Het
Tns4	A	G	11: 98,964,546 (GRCm39)	S522P	probably damaging	Het
Trpm1	A	T	7: 63,917,724 (GRCm39)	M355L	probably damaging	Het
Trpm8	G	A	1: 88,234,400 (GRCm39)		probably benign	Het
V1ra8	T	C	6: 90,180,082 (GRCm39)	F95S	probably damaging	Het
Zfp521	A	C	18: 13,979,166 (GRCm39)	S416A	possibly damaging	Het
Zfp574	T	A	7: 24,779,764 (GRCm39)	V262E	probably benign	Het
Zfp740	T	A	15: 102,117,243 (GRCm39)	I77N	probably damaging	Het
Zscan18	A	T	7: 12,509,125 (GRCm39)		probably benign	Het

Other mutations in Ska3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00961:Ska3	APN	14	58,059,581 (GRCm39)	missense	possibly damaging	0.95
IGL01969:Ska3	APN	14	58,049,119 (GRCm39)	missense	probably benign	0.00
IGL02539:Ska3	APN	14	58,057,968 (GRCm39)	missense	possibly damaging	0.86
IGL02665:Ska3	APN	14	58,059,529 (GRCm39)	missense	probably damaging	1.00
R1276:Ska3	UTSW	14	58,057,726 (GRCm39)	missense	probably damaging	1.00
R3737:Ska3	UTSW	14	58,049,053 (GRCm39)	missense	probably benign	0.00
R3738:Ska3	UTSW	14	58,049,053 (GRCm39)	missense	probably benign	0.00
R3771:Ska3	UTSW	14	58,047,534 (GRCm39)	missense	probably benign	0.06
R3772:Ska3	UTSW	14	58,047,534 (GRCm39)	missense	probably benign	0.06
R3773:Ska3	UTSW	14	58,047,534 (GRCm39)	missense	probably benign	0.06
R5269:Ska3	UTSW	14	58,059,573 (GRCm39)	missense	possibly damaging	0.87
R6320:Ska3	UTSW	14	58,054,148 (GRCm39)	missense	probably benign	0.04
R7792:Ska3	UTSW	14	58,047,512 (GRCm39)	missense	probably damaging	0.97
R8108:Ska3	UTSW	14	58,063,559 (GRCm39)	missense	probably damaging	1.00
R8362:Ska3	UTSW	14	58,054,105 (GRCm39)	missense	probably benign	0.27
R8976:Ska3	UTSW	14	58,057,851 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTAAACCTAAATGGAATGGCAGC -3'
(R):5'- ATGATGGCTTCCATTGGTCC -3'

Sequencing Primer
(F):5'- AAGCCATATGCCTCGATTGG -3'
(R):5'- TCCTTATTTCATAAACCAAACTGAGC -3'

Posted On

2017-08-16