Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01571:Sgo2a'

93305

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 #

IGL01571

Quality Score

Status

Chromosome

Chromosomal Location

57995971-58025899 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58017974 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1106 (S1106P)

Ref Sequence

ENSEMBL: ENSMUSP00000027202 (fasta)

Gene Model

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

AlphaFold

Q7TSY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000027202
AA Change: S1106P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027202
Gene: ENSMUSG00000026039
AA Change: S1106P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190746

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	A	9: 21,539,081		probably benign	Het
Cep164	T	C	9: 45,794,338	Q127R	possibly damaging	Het
Ces1f	T	A	8: 93,258,368	M444L	probably benign	Het
Chd5	T	A	4: 152,384,115		probably benign	Het
Cpd	T	A	11: 76,782,296	Y1341F	probably damaging	Het
Cryz	T	C	3: 154,621,743	I268T	probably damaging	Het
Csnk2a1	G	A	2: 152,275,406	R278H	probably damaging	Het
Cyp4a12b	A	G	4: 115,438,157	I487V	probably benign	Het
Dnajb5	T	C	4: 42,956,516		probably benign	Het
Dxo	A	T	17: 34,839,040	H214L	probably damaging	Het
Etfb	T	C	7: 43,452,959		probably null	Het
G6pc2	G	A	2: 69,222,967	V122I	probably damaging	Het
Gm5431	A	T	11: 48,894,713	D278E	probably benign	Het
Gstt2	C	T	10: 75,834,171		probably benign	Het
Hnf4g	A	C	3: 3,651,266		probably benign	Het
Ifi44	T	C	3: 151,745,537	D259G	probably damaging	Het
Klk1	T	C	7: 44,228,596	V92A	probably damaging	Het
Lypla1	T	C	1: 4,844,988	I222T	probably benign	Het
Nbeal2	T	C	9: 110,632,758	N1510D	possibly damaging	Het
Ndufaf7	A	G	17: 78,943,852	R229G	probably damaging	Het
Nphp4	G	A	4: 152,556,382	V1069M	probably benign	Het
Nsd2	A	G	5: 33,864,687	H528R	probably benign	Het
Olfr1298	C	A	2: 111,645,380	V206L	probably benign	Het
Olfr1355	A	G	10: 78,879,837	I222V	possibly damaging	Het
Olfr763	A	T	10: 129,011,827	I181F	probably damaging	Het
Pigh	A	C	12: 79,085,860		probably benign	Het
Prr14l	A	T	5: 32,828,806	M1115K	probably benign	Het
Psg21	T	C	7: 18,654,825	D114G	probably damaging	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Pygb	T	C	2: 150,830,473	S831P	probably benign	Het
Ryr2	T	A	13: 11,721,761	D2260V	probably damaging	Het
Slc5a5	G	A	8: 70,891,332		probably benign	Het
Tekt4	A	G	17: 25,476,384	D397G	probably benign	Het
Trrap	T	A	5: 144,833,287		probably benign	Het
Upf2	T	C	2: 6,018,939		probably benign	Het
Usp17lb	A	T	7: 104,840,381	N445K	possibly damaging	Het
Vmn2r111	A	G	17: 22,571,392	V211A	probably damaging	Het
Vmn2r23	A	G	6: 123,704,407	I91M	probably damaging	Het
Vps13b	C	T	15: 35,877,489		probably benign	Het
Zc3hc1	G	A	6: 30,390,863	T47I	probably benign	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
IGL00902:Sgo2a	APN	1	58016099	missense	probably benign	0.00
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
crazy	UTSW	1	58017795	missense	probably benign	0.11
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
R8782:Sgo2a	UTSW	1	58017457	start gained	probably benign
R8899:Sgo2a	UTSW	1	58019663	missense	possibly damaging	0.85
R8912:Sgo2a	UTSW	1	58017401	missense	probably damaging	0.99
R9106:Sgo2a	UTSW	1	57998124	missense	possibly damaging	0.59
R9256:Sgo2a	UTSW	1	58019613	missense	possibly damaging	0.77
X0065:Sgo2a	UTSW	1	58016358	missense	probably damaging	1.00

Posted On

2013-12-09