Mutagenetix > Incidental Mutation

Incidental Mutation 'R8362:Ska3'

646018

Institutional Source

Beutler Lab

Gene Symbol

Ska3

Ensembl Gene

ENSMUSG00000021965

Gene Name

spindle and kinetochore associated complex subunit 3

Synonyms

F630043A04Rik

MMRRC Submission

067808-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R8362 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58044018-58063642 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58054105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 282 (N282D)

Ref Sequence

ENSEMBL: ENSMUSP00000022536 (fasta)

Gene Model

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

AlphaFold

Q8C263

Predicted Effect

probably benign
Transcript: ENSMUST00000022536
AA Change: N282D

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022536
Gene: ENSMUSG00000021965
AA Change: N282D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	T	A	19: 8,867,395 (GRCm39)	S65T	probably damaging	Het
Abcb1b	A	T	5: 8,848,758 (GRCm39)	N6I	probably benign	Het
Abr	A	T	11: 76,369,954 (GRCm39)	I145N	probably benign	Het
Alcam	A	T	16: 52,115,387 (GRCm39)	Y244N	probably damaging	Het
Amotl1	G	A	9: 14,556,218 (GRCm39)	A36V	probably benign	Het
Ankrd11	A	T	8: 123,618,797 (GRCm39)	L1685Q	probably damaging	Het
Ascc3	A	C	10: 50,518,692 (GRCm39)	Q332H	possibly damaging	Het
Cdc42bpa	C	T	1: 179,989,690 (GRCm39)	L1720F	probably damaging	Het
Clec4b1	T	C	6: 123,027,602 (GRCm39)	S20P	probably benign	Het
Cpt1a	C	T	19: 3,420,744 (GRCm39)	R401*	probably null	Het
Dnah12	T	A	14: 26,576,788 (GRCm39)	Y3013N	probably damaging	Het
Dop1a	G	A	9: 86,395,941 (GRCm39)	R801H	probably benign	Het
Flywch1	G	T	17: 23,975,682 (GRCm39)	T520N	probably damaging	Het
Fndc1	A	G	17: 8,001,207 (GRCm39)	S190P	unknown	Het
Gabra1	G	T	11: 42,066,831 (GRCm39)	Q28K	probably benign	Het
Gria2	T	C	3: 80,615,197 (GRCm39)	M428V	possibly damaging	Het
H13	T	A	2: 152,528,311 (GRCm39)	I220N	unknown	Het
Hars2	T	A	18: 36,923,228 (GRCm39)	F412L	probably benign	Het
Hecw2	A	T	1: 54,079,650 (GRCm39)	M1K	probably null	Het
Homer1	T	A	13: 93,502,797 (GRCm39)	S192T	unknown	Het
Itga2b	T	A	11: 102,352,189 (GRCm39)	D464V	probably damaging	Het
Ivd	T	A	2: 118,708,422 (GRCm39)	C379S	probably damaging	Het
Khdc3	A	T	9: 73,010,848 (GRCm39)	N233Y	possibly damaging	Het
Lrrc37	A	G	11: 103,506,163 (GRCm39)	V1935A	probably benign	Het
Lrrfip1	T	A	1: 90,981,423 (GRCm39)	L15Q	probably damaging	Het
Megf8	C	A	7: 25,039,943 (GRCm39)	P986Q	probably benign	Het
Morc2b	G	T	17: 33,357,295 (GRCm39)	T159K	possibly damaging	Het
Nudt5	A	G	2: 5,858,322 (GRCm39)		probably null	Het
Or6c211	G	T	10: 129,506,100 (GRCm39)	A96E	possibly damaging	Het
Paqr5	A	T	9: 61,879,945 (GRCm39)	Y116*	probably null	Het
Pcnx1	A	C	12: 82,013,830 (GRCm39)	S623R		Het
Polr1a	T	C	6: 71,941,651 (GRCm39)	V1053A	probably benign	Het
Ptprt	A	T	2: 161,393,667 (GRCm39)	D1252E	probably damaging	Het
Qser1	A	G	2: 104,620,246 (GRCm39)	S189P	probably damaging	Het
Rasal1	C	T	5: 120,813,485 (GRCm39)	R620W	probably damaging	Het
Rbms1	C	T	2: 60,793,083 (GRCm39)	M9I	probably benign	Het
Slc25a24	T	A	3: 109,065,878 (GRCm39)	I245N	possibly damaging	Het
Slc26a4	C	T	12: 31,594,506 (GRCm39)	V281I	probably benign	Het
Smg8	A	T	11: 86,968,881 (GRCm39)	Y958*	probably null	Het
Spata31	A	G	13: 65,070,044 (GRCm39)	T731A	possibly damaging	Het
Spg11	G	T	2: 121,948,842 (GRCm39)	A3D	unknown	Het
Srgap1	A	G	10: 121,691,383 (GRCm39)	Y284H	possibly damaging	Het
Stt3b	A	G	9: 115,083,988 (GRCm39)	I396T	probably damaging	Het
Tnxb	A	G	17: 34,931,946 (GRCm39)	T2160A	probably damaging	Het
Tprg1l	G	C	4: 154,244,815 (GRCm39)	T91S	possibly damaging	Het
Ush2a	G	A	1: 188,689,650 (GRCm39)	V5071I	probably damaging	Het
Vmn2r60	T	A	7: 41,844,954 (GRCm39)	N772K	probably damaging	Het
Vmn2r81	T	A	10: 79,103,283 (GRCm39)	W159R	probably benign	Het
Vmn2r93	G	A	17: 18,546,353 (GRCm39)	V742I	probably benign	Het
Zc3h13	C	A	14: 75,561,909 (GRCm39)	H654N	unknown	Het
Zfp516	T	C	18: 83,005,019 (GRCm39)	L641P	probably benign	Het
Zfp623	T	C	15: 75,819,488 (GRCm39)	V148A	probably damaging	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
R6088:Ska3	UTSW	14	58,054,151 (GRCm39)	missense	probably benign	0.01
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
R8976:Ska3	UTSW	14	58,057,851 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGCAGCAAATAAAACGAGTACTAC -3'
(R):5'- TGAGCTACTCCAGACTGAAATAAG -3'

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

Posted On

2020-09-02