Mutagenetix > Incidental Mutations

Incidental Mutation 'R6320:Ska3'

510119

Institutional Source

Beutler Lab

Gene Symbol

Ska3

Ensembl Gene

ENSMUSG00000021965

Gene Name

spindle and kinetochore associated complex subunit 3

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R6320 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57806561-57826185 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57816691 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 267 (N267K)

Ref Sequence

ENSEMBL: ENSMUSP00000022536 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022536
AA Change: N267K

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000022536
Gene: ENSMUSG00000021965
AA Change: N267K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225646

Meta Mutation Damage Score

0.1160

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	C	7: 118,753,849	V189A	probably benign	Het
Agtr1b	G	T	3: 20,315,779	A221D	probably benign	Het
Aldh18a1	A	T	19: 40,570,561	D280E	probably benign	Het
Apob	G	A	12: 7,989,194	D475N	probably benign	Het
Bmi1	C	T	2: 18,684,375	T290I	probably benign	Het
Brd8	A	T	18: 34,613,239	D139E	possibly damaging	Het
Cacna1e	C	A	1: 154,441,524	V1467F	possibly damaging	Het
Cdh15	A	G	8: 122,864,347	D445G	probably benign	Het
Ceacam5	T	A	7: 17,747,198	L290H	probably damaging	Het
Celsr1	G	T	15: 85,900,959	Q3025K	probably benign	Het
Chil1	T	A	1: 134,182,258	M1K	probably null	Het
Crybg2	T	C	4: 134,081,426	S1404P	probably damaging	Het
Cubn	C	A	2: 13,280,195	C3470F	probably damaging	Het
Cyp20a1	T	C	1: 60,352,172		probably null	Het
Cyp24a1	G	T	2: 170,486,784	T408K	probably benign	Het
Cyp2a12	A	T	7: 27,031,152	I181F	possibly damaging	Het
Dnm1l	A	T	16: 16,332,088	I268N	probably damaging	Het
Eif2a	A	G	3: 58,557,096		probably null	Het
Epg5	T	C	18: 77,962,398	F701S	probably damaging	Het
Fbxo46	T	C	7: 19,136,541	S362P	possibly damaging	Het
Fgf22	A	G	10: 79,756,996		probably benign	Het
Fhod1	A	C	8: 105,337,350		probably benign	Het
Flnc	T	A	6: 29,459,063	V2448D	probably damaging	Het
Gm2696	G	T	10: 77,836,138		probably benign	Het
Gmpr	T	C	13: 45,532,398	S214P	possibly damaging	Het
Krt6a	A	G	15: 101,692,309	V308A	probably damaging	Het
Lig3	T	A	11: 82,794,007		probably null	Het
Lrrc37a	T	A	11: 103,504,051	N183Y	probably benign	Het
Mapk8ip3	C	A	17: 24,906,905	G422V	probably damaging	Het
Mks1	T	C	11: 87,855,499	S97P	probably benign	Het
Mphosph9	A	T	5: 124,324,961	V7E	probably damaging	Het
Msh5	A	G	17: 35,029,924	L711P	probably damaging	Het
Naga	T	A	15: 82,332,203		probably null	Het
Nlrp10	T	A	7: 108,925,746	T176S	possibly damaging	Het
Nqo1	T	C	8: 107,388,950	N232D	probably benign	Het
Olfr11	T	A	13: 21,639,248	I92L	probably damaging	Het
Olfr50	C	G	2: 36,793,573	N112K	possibly damaging	Het
P2ry6	A	G	7: 100,938,396	F252S	probably damaging	Het
P3h3	G	A	6: 124,854,872	R317W	probably benign	Het
Palm2	T	A	4: 57,710,173	C373S	probably damaging	Het
Pdzd3	A	G	9: 44,248,683	V380A	probably benign	Het
Phkb	T	A	8: 85,875,698	D39E	probably benign	Het
Psg16	G	A	7: 17,088,187	G23D	probably damaging	Het
Ptgr2	T	A	12: 84,302,337	I150K	probably benign	Het
Ptprf	A	G	4: 118,212,814	V1457A	probably benign	Het
Sart3	A	T	5: 113,751,240	Y508N	probably benign	Het
Sh3bp1	C	T	15: 78,911,515	P615S	probably damaging	Het
Slc26a7	A	G	4: 14,524,498	I462T	probably benign	Het
Slu7	C	T	11: 43,441,489	A244V	probably benign	Het
Smarca4	C	T	9: 21,637,375	P319L	probably damaging	Het
Smg9	A	G	7: 24,420,861	D420G	probably benign	Het
Strc	T	A	2: 121,374,958	D25V	probably benign	Het
Syne2	T	G	12: 76,061,650	V936G	probably damaging	Het
Tbc1d7	C	T	13: 43,152,933		probably benign	Het
Terb1	C	A	8: 104,447,199	D751Y	probably damaging	Het
Trpc1	A	G	9: 95,721,250	Y410H	probably damaging	Het
Ush2a	A	G	1: 188,356,846	N333D	probably benign	Het
Usp34	T	C	11: 23,452,520	S2438P	probably damaging	Het
Zbtb17	G	A	4: 141,463,383	G171S	probably benign	Het
Zfp7	G	A	15: 76,890,610	G284D	possibly damaging	Het
Zfyve26	A	G	12: 79,240,002	S2271P	probably damaging	Het
Zscan18	G	A	7: 12,775,220		probably benign	Het

Other mutations in Ska3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00961:Ska3	APN	14	57822124	missense	possibly damaging	0.95
IGL01969:Ska3	APN	14	57811662	missense	probably benign	0.00
IGL02539:Ska3	APN	14	57820511	missense	possibly damaging	0.86
IGL02665:Ska3	APN	14	57822072	missense	probably damaging	1.00
R1276:Ska3	UTSW	14	57820269	missense	probably damaging	1.00
R3737:Ska3	UTSW	14	57811596	missense	probably benign	0.00
R3738:Ska3	UTSW	14	57811596	missense	probably benign	0.00
R3771:Ska3	UTSW	14	57810077	missense	probably benign	0.06
R3772:Ska3	UTSW	14	57810077	missense	probably benign	0.06
R3773:Ska3	UTSW	14	57810077	missense	probably benign	0.06
R5269:Ska3	UTSW	14	57822116	missense	possibly damaging	0.87
R6088:Ska3	UTSW	14	57816694	missense	probably benign	0.01
R7792:Ska3	UTSW	14	57810055	missense	probably damaging	0.97
R8108:Ska3	UTSW	14	57826102	missense	probably damaging	1.00
R8362:Ska3	UTSW	14	57816648	missense	probably benign	0.27

Predicted Primers

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

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

Posted On

2018-04-02