Mutagenetix > Incidental Mutation

Incidental Mutation 'R0036:Sgo2a'

201472

Institutional Source

Beutler Lab

Gene Symbol

Sgo2a

Ensembl Gene

ENSMUSG00000026039

Gene Name

shugoshin 2A

Synonyms

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

MMRRC Submission

038330-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0036 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

58035130-58065058 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58054787 bp (GRCm39)

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: 99.3%
3x: 98.9%
10x: 97.7%
20x: 96.0%

Validation Efficiency

97% (33/34)

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ctsq	C	T	13: 61,185,485 (GRCm39)		probably null	Het
Egln3	A	T	12: 54,232,378 (GRCm39)	D142E	possibly damaging	Het
Fam120a	G	A	13: 49,042,740 (GRCm39)		probably benign	Het
Hspg2	A	G	4: 137,270,160 (GRCm39)	T2373A	probably damaging	Het
Pcyox1l	G	T	18: 61,830,492 (GRCm39)	T460K	probably benign	Het
Phrf1	T	C	7: 140,841,693 (GRCm39)	M1435T	probably damaging	Het
Rnf157	A	G	11: 116,287,128 (GRCm39)	Y32H	probably damaging	Het
Rnf224	C	T	2: 25,126,143 (GRCm39)	R70Q	probably damaging	Het
Rusc2	C	A	4: 43,424,009 (GRCm39)	D1054E	probably damaging	Het
S100a16	T	A	3: 90,449,763 (GRCm39)	M82K	probably benign	Het
Serpina3j	A	G	12: 104,283,606 (GRCm39)	T235A	probably benign	Het
Slf1	G	T	13: 77,249,070 (GRCm39)	Q373K	probably benign	Het
Son	T	A	16: 91,457,054 (GRCm39)		probably benign	Het
Tril	C	T	6: 53,795,618 (GRCm39)	A535T	probably benign	Het
Vipr1	G	A	9: 121,490,049 (GRCm39)	D141N	probably benign	Het

Other mutations in Sgo2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Sgo2a	APN	1	58,055,753 (GRCm39)	missense	probably damaging	1.00
IGL00534:Sgo2a	APN	1	58,055,503 (GRCm39)	missense	probably damaging	1.00
IGL00902:Sgo2a	APN	1	58,055,258 (GRCm39)	missense	probably benign	0.00
IGL01571:Sgo2a	APN	1	58,057,133 (GRCm39)	missense	probably damaging	0.99
IGL02268:Sgo2a	APN	1	58,056,881 (GRCm39)	missense	probably benign	0.10
IGL02756:Sgo2a	APN	1	58,055,509 (GRCm39)	missense	probably damaging	1.00
IGL02887:Sgo2a	APN	1	58,055,511 (GRCm39)	missense	probably damaging	0.99
IGL02991:Sgo2a	APN	1	58,054,514 (GRCm39)	intron	probably benign
crazy	UTSW	1	58,056,954 (GRCm39)	missense	probably benign	0.11
harpo	UTSW	1	58,058,819 (GRCm39)	nonsense	probably null
mashugana	UTSW	1	58,055,726 (GRCm39)	missense	probably damaging	1.00
meshugas	UTSW	1	58,042,092 (GRCm39)	nonsense	probably null
R0036:Sgo2a	UTSW	1	58,054,787 (GRCm39)	missense	probably benign	0.14
R0095:Sgo2a	UTSW	1	58,054,714 (GRCm39)	missense	probably benign	0.11
R0325:Sgo2a	UTSW	1	58,055,856 (GRCm39)	missense	probably benign
R0464:Sgo2a	UTSW	1	58,039,253 (GRCm39)	missense	probably damaging	0.98
R0699:Sgo2a	UTSW	1	58,037,308 (GRCm39)	nonsense	probably null
R1251:Sgo2a	UTSW	1	58,039,121 (GRCm39)	critical splice acceptor site	probably null
R1355:Sgo2a	UTSW	1	58,057,124 (GRCm39)	missense	possibly damaging	0.91
R1457:Sgo2a	UTSW	1	58,054,965 (GRCm39)	missense	probably benign	0.00
R2244:Sgo2a	UTSW	1	58,056,213 (GRCm39)	missense	probably benign	0.00
R3896:Sgo2a	UTSW	1	58,052,805 (GRCm39)	missense	probably damaging	0.99
R4919:Sgo2a	UTSW	1	58,037,293 (GRCm39)	missense	probably damaging	0.99
R5030:Sgo2a	UTSW	1	58,056,918 (GRCm39)	nonsense	probably null
R5123:Sgo2a	UTSW	1	58,055,726 (GRCm39)	missense	probably damaging	1.00
R5317:Sgo2a	UTSW	1	58,054,683 (GRCm39)	missense	probably benign
R5767:Sgo2a	UTSW	1	58,058,819 (GRCm39)	nonsense	probably null
R5844:Sgo2a	UTSW	1	58,055,556 (GRCm39)	missense	probably damaging	0.99
R6018:Sgo2a	UTSW	1	58,056,118 (GRCm39)	missense	probably benign	0.01
R6039:Sgo2a	UTSW	1	58,055,775 (GRCm39)	missense	possibly damaging	0.78
R6039:Sgo2a	UTSW	1	58,055,775 (GRCm39)	missense	possibly damaging	0.78
R6450:Sgo2a	UTSW	1	58,042,092 (GRCm39)	nonsense	probably null
R6998:Sgo2a	UTSW	1	58,055,799 (GRCm39)	missense	probably damaging	0.99
R7073:Sgo2a	UTSW	1	58,056,944 (GRCm39)	missense	possibly damaging	0.73
R7508:Sgo2a	UTSW	1	58,056,954 (GRCm39)	missense	probably benign	0.11
R7722:Sgo2a	UTSW	1	58,055,696 (GRCm39)	missense	probably benign	0.45
R8094:Sgo2a	UTSW	1	58,056,300 (GRCm39)	missense	possibly damaging	0.77
R8176:Sgo2a	UTSW	1	58,056,252 (GRCm39)	missense	possibly damaging	0.93
R8782:Sgo2a	UTSW	1	58,056,616 (GRCm39)	start gained	probably benign
R8899:Sgo2a	UTSW	1	58,058,822 (GRCm39)	missense	possibly damaging	0.85
R8912:Sgo2a	UTSW	1	58,056,560 (GRCm39)	missense	probably damaging	0.99
R9106:Sgo2a	UTSW	1	58,037,283 (GRCm39)	missense	possibly damaging	0.59
R9256:Sgo2a	UTSW	1	58,058,772 (GRCm39)	missense	possibly damaging	0.77
R9688:Sgo2a	UTSW	1	58,056,737 (GRCm39)	missense	probably damaging	1.00
X0065:Sgo2a	UTSW	1	58,055,517 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTCCATCTCCCAGCCTCAGAAG -3'
(R):5'- ATCCAGGACACCAGCGCCTCTTTC -3'

Sequencing Primer
(F):5'- TCACATGGTAATGTGACTATGAGG -3'
(R):5'- ATCAGAGCTTGCACCTTTCAC -3'

Posted On

2014-06-13