Mutagenetix > Incidental Mutations

Incidental Mutation 'R0036:Sgo2a'

15766

Institutional Source

Beutler Lab

Gene Symbol

Sgo2a

Ensembl Gene

ENSMUSG00000026039

Gene Name

shugoshin 2A

Synonyms

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

MMRRC Submission

038330-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0036 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

57995971-58025899 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58015628 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 324 (S324P)

Ref Sequence

ENSEMBL: ENSMUSP00000027202 (fasta)

Gene Model

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

AlphaFold

Q7TSY8

Predicted Effect

probably benign
Transcript: ENSMUST00000027202
AA Change: S324P

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000027202
Gene: ENSMUSG00000026039
AA Change: S324P

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

Meta Mutation Damage Score

0.0907

Coding Region Coverage

1x: 79.1%
3x: 69.3%
10x: 43.3%
20x: 23.5%

Validation Efficiency

91% (49/54)

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028P14Rik	A	T	19: 23,616,568		probably benign	Het
Cfap44	A	G	16: 44,439,069	E1098G	possibly damaging	Het
Ctsq	C	T	13: 61,037,671		probably null	Het
Dock9	C	T	14: 121,622,853	V886M	probably damaging	Het
Eaf2	T	C	16: 36,800,658	Y224C	probably benign	Het
Eif5b	T	A	1: 38,019,111	S165T	probably benign	Het
Eln	A	G	5: 134,711,060		probably null	Het
Jakmip1	A	G	5: 37,134,304	K514R	probably null	Het
Myo1e	T	A	9: 70,341,308	W435R	probably damaging	Het
Nadsyn1	T	C	7: 143,811,291	I226V	probably benign	Het
Nedd4l	T	C	18: 65,051,123		probably benign	Het
Phrf1	T	C	7: 141,261,780	M1435T	probably damaging	Het
Ppic	A	T	18: 53,409,192	I148N	probably damaging	Het
Sdr16c6	C	A	4: 4,063,335		probably benign	Het
Slf1	G	T	13: 77,100,951	Q373K	probably benign	Het
Tfg	G	T	16: 56,690,995	Q324K	probably benign	Het
Wdr64	G	T	1: 175,728,930	G248*	probably null	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
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
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
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

2012-12-21