Mutagenetix > Incidental Mutation

Incidental Mutation 'R8899:Sgo2a'

679807

Institutional Source

Beutler Lab

Gene Symbol

Sgo2a

Ensembl Gene

ENSMUSG00000026039

Gene Name

shugoshin 2A

Synonyms

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

MMRRC Submission

068756-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8899 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58035130-58065058 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 58058822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 1134 (S1134A)

Ref Sequence

ENSEMBL: ENSMUSP00000027202 (fasta)

Gene Model

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

AlphaFold

Q7TSY8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027202
AA Change: S1134A

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027202
Gene: ENSMUSG00000026039
AA Change: S1134A

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agxt2	A	T	15: 10,378,900 (GRCm39)	N167I	probably damaging	Het
Arel1	A	G	12: 84,981,017 (GRCm39)	I330T	probably benign	Het
Ate1	T	C	7: 129,996,389 (GRCm39)	K484E	possibly damaging	Het
Atl2	T	C	17: 80,183,469 (GRCm39)	D42G	probably benign	Het
Bltp1	T	C	3: 37,042,429 (GRCm39)	I2805T	probably damaging	Het
Cd209e	C	T	8: 3,901,212 (GRCm39)	W147*	probably null	Het
Cdc40	G	A	10: 40,717,809 (GRCm39)	Q365*	probably null	Het
Cenpe	A	G	3: 134,945,644 (GRCm39)	T1053A	probably benign	Het
Colgalt1	T	C	8: 72,076,306 (GRCm39)	S586P	probably damaging	Het
Crem	A	G	18: 3,295,370 (GRCm39)	I91T	probably damaging	Het
Csrnp3	G	A	2: 65,852,987 (GRCm39)	V460I	possibly damaging	Het
Cul1	T	A	6: 47,474,246 (GRCm39)	I136N	possibly damaging	Het
Ddx19b	A	T	8: 111,737,929 (GRCm39)	I273N	probably damaging	Het
Fap	A	G	2: 62,348,817 (GRCm39)	I505T	probably damaging	Het
Fbxo44	A	T	4: 148,238,078 (GRCm39)	Y216*	probably null	Het
Fbxw10	T	A	11: 62,748,567 (GRCm39)	M398K	probably damaging	Het
Fut10	T	C	8: 31,726,514 (GRCm39)	V423A	possibly damaging	Het
Fyco1	A	C	9: 123,655,646 (GRCm39)	D1037E	probably benign	Het
Gabrg2	G	A	11: 41,867,377 (GRCm39)	R81*	probably null	Het
Gcn1	T	C	5: 115,717,220 (GRCm39)	V204A	probably benign	Het
Gnl1	T	C	17: 36,299,608 (GRCm39)	L593P	probably damaging	Het
Grm4	T	C	17: 27,653,754 (GRCm39)	Q732R	probably damaging	Het
Icam5	T	C	9: 20,948,415 (GRCm39)	V741A	possibly damaging	Het
Iqub	C	T	6: 24,505,768 (GRCm39)	E47K	probably benign	Het
Kcnk3	A	G	5: 30,779,580 (GRCm39)	K210R	probably benign	Het
Kdm2b	T	A	5: 123,125,851 (GRCm39)	R12*	probably null	Het
Kifbp	T	C	10: 62,399,282 (GRCm39)		probably benign	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lgi1	C	T	19: 38,294,538 (GRCm39)	H413Y	probably damaging	Het
Lhx8	A	G	3: 154,033,653 (GRCm39)	Y51H	probably damaging	Het
Lim2	T	C	7: 43,083,055 (GRCm39)	I80T	probably benign	Het
Macf1	A	G	4: 123,368,852 (GRCm39)	F405L	probably benign	Het
Mefv	G	A	16: 3,528,764 (GRCm39)	T559I	probably damaging	Het
Nin	A	G	12: 70,077,710 (GRCm39)	W1739R	probably damaging	Het
Or10h1	A	T	17: 33,418,718 (GRCm39)	K232M	probably damaging	Het
Or11j4	T	C	14: 50,630,269 (GRCm39)	F19L	probably damaging	Het
Or5t16	A	G	2: 86,818,710 (GRCm39)	I270T	probably benign	Het
Or8b3b	C	T	9: 38,584,147 (GRCm39)	V198I	probably damaging	Het
Otop3	T	C	11: 115,231,886 (GRCm39)		probably null	Het
Pate9	A	T	9: 36,446,254 (GRCm39)	C53S	probably damaging	Het
Pip5kl1	A	G	2: 32,469,082 (GRCm39)	I247V	probably benign	Het
Polr2d	T	A	18: 31,922,226 (GRCm39)	M1K	probably null	Het
Prss53	T	C	7: 127,488,193 (GRCm39)	T141A	possibly damaging	Het
Rdh12	A	G	12: 79,268,802 (GRCm39)	N293S	probably benign	Het
Rnf146	G	A	10: 29,223,754 (GRCm39)	T44I	probably benign	Het
Rsbn1l	A	T	5: 21,101,865 (GRCm39)	C588S	probably damaging	Het
Septin8	G	A	11: 53,426,862 (GRCm39)	V208I	probably damaging	Het
Sh3bp4	C	T	1: 89,073,297 (GRCm39)	T715I	probably benign	Het
Snrnp200	A	G	2: 127,078,517 (GRCm39)	T1758A	probably damaging	Het
Snx6	A	T	12: 54,812,423 (GRCm39)	D70E	probably benign	Het
Spag9	T	C	11: 93,983,695 (GRCm39)	S341P	probably damaging	Het
Sparcl1	T	C	5: 104,240,590 (GRCm39)	D278G	probably benign	Het
Spmap2l	T	A	5: 77,185,200 (GRCm39)		probably null	Het
Srbd1	T	A	17: 86,292,885 (GRCm39)	S895C		Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Tas2r136	T	C	6: 132,754,323 (GRCm39)	D268G	probably benign	Het
Tas2r143	T	A	6: 42,377,888 (GRCm39)	Y239*	probably null	Het
Tbc1d17	C	T	7: 44,492,328 (GRCm39)	G419D	probably damaging	Het
Tff2	C	T	17: 31,362,113 (GRCm39)	W68*	probably null	Het
Thop1	T	C	10: 80,916,440 (GRCm39)	C483R	probably damaging	Het
Tmem245	A	C	4: 56,903,916 (GRCm39)		probably null	Het
Tmem67	A	G	4: 12,055,038 (GRCm39)	F655S	probably damaging	Het
Trim36	T	G	18: 46,302,264 (GRCm39)	S583R	possibly damaging	Het
Ucp1	T	C	8: 84,017,216 (GRCm39)	V2A	probably benign	Het
Ugt1a6a	T	A	1: 88,066,803 (GRCm39)	M203K	probably damaging	Het
Usp1	A	G	4: 98,819,347 (GRCm39)	K270E	probably damaging	Het
Vps13c	T	C	9: 67,841,783 (GRCm39)	F1935S	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zfp799	G	T	17: 33,039,348 (GRCm39)	P306Q	probably damaging	Het
Zfp831	A	T	2: 174,485,978 (GRCm39)	R218W	probably damaging	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
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
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'- ATTGGTTTACTTTACATCTTAGCTCC -3'
(R):5'- ACCAGAGCTTATGTGGAACAG -3'

Sequencing Primer
(F):5'- AGCTCCTTTTTCTCTCAAAATCGAG -3'
(R):5'- GAGCTTATGTGGAACAGATTCATATG -3'

Posted On

2021-08-31