Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00902:Sgo2a'

26601

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sgo2a

Ensembl Gene

ENSMUSG00000026039

Gene Name

shugoshin 2A

Synonyms

Sgol2a, Sgol2, 1110007N04Rik, D1Ertd8e, 5730576N04Rik, Tripin

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00902

Quality Score

Status

Chromosome

Chromosomal Location

57995971-58025899 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58016099 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 481 (T481A)

Ref Sequence

ENSEMBL: ENSMUSP00000027202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027202] [ENSMUST00000163061]

Predicted Effect

probably benign
Transcript: ENSMUST00000027202
AA Change: T481A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000027202
Gene: ENSMUSG00000026039
AA Change: T481A

Domain	Start	End	E-Value	Type
coiled coil region	54	109	N/A	INTRINSIC
low complexity region	182	198	N/A	INTRINSIC
low complexity region	371	381	N/A	INTRINSIC
low complexity region	396	431	N/A	INTRINSIC
low complexity region	583	597	N/A	INTRINSIC
low complexity region	718	729	N/A	INTRINSIC
low complexity region	1068	1078	N/A	INTRINSIC
low complexity region	1112	1125	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163061

SMART Domains

Protein: ENSMUSP00000124053
Gene: ENSMUSG00000054770

Domain	Start	End	E-Value	Type
BTB	23	123	1.01e-2	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display male and female infertility with abnormalities in meiosis but not in mitosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 37,041,345	G1001D	probably damaging	Het
Adamts7	T	G	9: 90,188,794		probably null	Het
Akap11	A	G	14: 78,495,838	S1876P	probably benign	Het
Capn10	A	G	1: 92,942,559	I256V	probably benign	Het
Catsperg2	T	A	7: 29,701,143	H262L	possibly damaging	Het
Col22a1	C	A	15: 71,964,659	G509V	probably damaging	Het
Dab2ip	T	C	2: 35,717,112	F523S	probably damaging	Het
Dbnl	G	T	11: 5,798,105	A313S	probably benign	Het
Ddo	T	C	10: 40,647,554	V180A	probably damaging	Het
Enox1	A	G	14: 77,582,404	M200V	possibly damaging	Het
Fabp6	G	A	11: 43,598,716	R33C	probably damaging	Het
Gm9104	T	C	17: 45,466,014		probably benign	Het
Gspt1	C	T	16: 11,232,579	V303I	probably damaging	Het
Igf2r	C	T	17: 12,700,358	C1469Y	probably damaging	Het
Igflr1	T	C	7: 30,567,275	S183P	possibly damaging	Het
Itga6	T	C	2: 71,849,394	V1001A	probably benign	Het
Itih1	G	A	14: 30,932,482		probably benign	Het
Krt86	C	T	15: 101,473,860	H104Y	probably benign	Het
Lrp5	T	C	19: 3,600,774	N1220S	probably damaging	Het
March6	A	G	15: 31,484,978	Y434H	probably damaging	Het
Mbd1	A	G	18: 74,275,239	Y211C	possibly damaging	Het
Mpeg1	C	A	19: 12,461,769	A197D	probably damaging	Het
Mroh2b	T	A	15: 4,915,222	L435Q	probably damaging	Het
Mss51	A	C	14: 20,486,167	M160R	probably damaging	Het
Ndufs7	T	G	10: 80,256,005	Y190*	probably null	Het
Olfr1015	T	C	2: 85,786,117	M202T	probably benign	Het
Olfr768	T	A	10: 129,093,396	I193L	probably benign	Het
Pcdh17	A	G	14: 84,446,849	E252G	probably damaging	Het
Ric1	T	C	19: 29,567,231	V151A	probably benign	Het
Slc5a8	A	G	10: 88,919,461	T477A	probably benign	Het
Smg5	G	A	3: 88,353,085	V661I	probably benign	Het
Snx19	A	T	9: 30,428,732	I389F	possibly damaging	Het
Spem1	A	T	11: 69,821,817	I64N	probably damaging	Het
Ssfa2	G	A	2: 79,660,478	R980Q	probably damaging	Het
Thada	A	T	17: 84,447,976	M262K	probably damaging	Het
Uox	A	G	3: 146,610,406	D32G	possibly damaging	Het
Usp42	A	T	5: 143,719,874		probably benign	Het
Usp43	G	A	11: 67,891,419	P391L	probably benign	Het
Vmn2r56	T	C	7: 12,715,499	S271G	probably benign	Het
Wdr64	T	A	1: 175,728,825	C213S	probably damaging	Het
Zfp26	A	T	9: 20,439,548	S194T	possibly damaging	Het

Other mutations in Sgo2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Sgo2a	APN	1	58016594	missense	probably damaging	1.00
IGL00534:Sgo2a	APN	1	58016344	missense	probably damaging	1.00
IGL01571:Sgo2a	APN	1	58017974	missense	probably damaging	0.99
IGL02268:Sgo2a	APN	1	58017722	missense	probably benign	0.10
IGL02756:Sgo2a	APN	1	58016350	missense	probably damaging	1.00
IGL02887:Sgo2a	APN	1	58016352	missense	probably damaging	0.99
IGL02991:Sgo2a	APN	1	58015355	intron	probably benign
harpo	UTSW	1	58019660	nonsense	probably null
mashugana	UTSW	1	58016567	missense	probably damaging	1.00
meshugas	UTSW	1	58002933	nonsense	probably null
R0036:Sgo2a	UTSW	1	58015628	missense	probably benign	0.14
R0036:Sgo2a	UTSW	1	58015628	missense	probably benign	0.14
R0095:Sgo2a	UTSW	1	58015555	missense	probably benign	0.11
R0325:Sgo2a	UTSW	1	58016697	missense	probably benign
R0464:Sgo2a	UTSW	1	58000094	missense	probably damaging	0.98
R0699:Sgo2a	UTSW	1	57998149	nonsense	probably null
R1251:Sgo2a	UTSW	1	57999962	critical splice acceptor site	probably null
R1355:Sgo2a	UTSW	1	58017965	missense	possibly damaging	0.91
R1457:Sgo2a	UTSW	1	58015806	missense	probably benign	0.00
R2244:Sgo2a	UTSW	1	58017054	missense	probably benign	0.00
R3896:Sgo2a	UTSW	1	58013646	missense	probably damaging	0.99
R4919:Sgo2a	UTSW	1	57998134	missense	probably damaging	0.99
R5030:Sgo2a	UTSW	1	58017759	nonsense	probably null
R5123:Sgo2a	UTSW	1	58016567	missense	probably damaging	1.00
R5317:Sgo2a	UTSW	1	58015524	missense	probably benign
R5767:Sgo2a	UTSW	1	58019660	nonsense	probably null
R5844:Sgo2a	UTSW	1	58016397	missense	probably damaging	0.99
R6018:Sgo2a	UTSW	1	58016959	missense	probably benign	0.01
R6039:Sgo2a	UTSW	1	58016616	missense	possibly damaging	0.78
R6039:Sgo2a	UTSW	1	58016616	missense	possibly damaging	0.78
R6450:Sgo2a	UTSW	1	58002933	nonsense	probably null
R6998:Sgo2a	UTSW	1	58016640	missense	probably damaging	0.99
R7073:Sgo2a	UTSW	1	58017785	missense	possibly damaging	0.73
R7508:Sgo2a	UTSW	1	58017795	missense	probably benign	0.11
R7722:Sgo2a	UTSW	1	58016537	missense	probably benign	0.45
R8094:Sgo2a	UTSW	1	58017141	missense	possibly damaging	0.77
X0065:Sgo2a	UTSW	1	58016358	missense	probably damaging	1.00

Posted On

2013-04-17