Mutagenetix > Incidental Mutation

Incidental Mutation 'R3706:Sgo2b'

271774

Institutional Source

Beutler Lab

Gene Symbol

Sgo2b

Ensembl Gene

ENSMUSG00000094443

Gene Name

shugoshin 2B

Synonyms

Gm4975, Sgol2b

MMRRC Submission

040699-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R3706 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64377728-64405204 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64381179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 551 (E551G)

Ref Sequence

ENSEMBL: ENSMUSP00000136323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179944]

AlphaFold

J3QMK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000179944
AA Change: E551G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136323
Gene: ENSMUSG00000094443
AA Change: E551G

Domain	Start	End	E-Value	Type
coiled coil region	54	113	N/A	INTRINSIC
low complexity region	122	135	N/A	INTRINSIC
low complexity region	163	172	N/A	INTRINSIC
low complexity region	400	414	N/A	INTRINSIC
internal_repeat_1	528	618	9.12e-8	PROSPERO
internal_repeat_1	713	809	9.12e-8	PROSPERO
low complexity region	1009	1024	N/A	INTRINSIC
low complexity region	1059	1081	N/A	INTRINSIC
low complexity region	1112	1126	N/A	INTRINSIC
low complexity region	1130	1148	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210915

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	G	A	12: 112,740,085 (GRCm39)	P523L	possibly damaging	Het
Ampd1	A	G	3: 102,995,627 (GRCm39)		probably benign	Het
Anxa10	T	A	8: 62,517,321 (GRCm39)	K167M	probably damaging	Het
Atp8b2	A	T	3: 89,852,459 (GRCm39)	F866I	probably damaging	Het
Atxn2	T	C	5: 121,923,931 (GRCm39)		probably null	Het
Card11	G	A	5: 140,872,890 (GRCm39)	R608C	probably damaging	Het
Cd4	T	C	6: 124,856,351 (GRCm39)	K47E	probably benign	Het
Cenpl	G	A	1: 160,905,985 (GRCm39)	V120M	probably damaging	Het
Cfap69	G	T	5: 5,663,843 (GRCm39)	Y461*	probably null	Het
Cplane1	T	C	15: 8,289,300 (GRCm39)	S2917P	unknown	Het
Crct1	C	A	3: 92,922,014 (GRCm39)		probably benign	Het
Ddx24	A	T	12: 103,383,675 (GRCm39)	V592E	probably damaging	Het
Dmc1	G	C	15: 79,446,782 (GRCm39)	P264A	probably damaging	Het
Donson	A	G	16: 91,483,049 (GRCm39)		probably benign	Het
Elovl5	C	A	9: 77,887,119 (GRCm39)	A170E	probably null	Het
Emilin1	A	G	5: 31,075,166 (GRCm39)	E469G	possibly damaging	Het
Fam178b	A	G	1: 36,647,529 (GRCm39)	Y235H	probably damaging	Het
Fgfr2	T	C	7: 129,800,161 (GRCm39)	T358A	probably benign	Het
Fpgs	A	T	2: 32,578,008 (GRCm39)	I138N	probably damaging	Het
Glb1l2	A	G	9: 26,682,316 (GRCm39)		probably benign	Het
Hspa4l	A	T	3: 40,736,125 (GRCm39)	N582I	possibly damaging	Het
Immt	T	C	6: 71,839,346 (GRCm39)	M226T	probably benign	Het
Kif21b	A	G	1: 136,087,148 (GRCm39)	N875S	probably benign	Het
Lama2	T	C	10: 27,014,992 (GRCm39)	D1572G	probably damaging	Het
Lelp1	A	C	3: 92,042,714 (GRCm39)	C112G	unknown	Het
Mctp2	A	G	7: 71,863,859 (GRCm39)		probably benign	Het
Mettl2	T	A	11: 105,030,552 (GRCm39)	I376N	probably benign	Het
Mycbp2	A	T	14: 103,393,850 (GRCm39)	S2904T	probably benign	Het
Nwd1	A	G	8: 73,393,744 (GRCm39)	T377A	possibly damaging	Het
Or10q1	T	A	19: 13,726,476 (GRCm39)	L2Q	probably benign	Het
Or5b12b	C	T	19: 12,861,260 (GRCm39)	T5I	probably damaging	Het
Pappa2	A	T	1: 158,662,488 (GRCm39)	Y1162*	probably null	Het
Phip	T	C	9: 82,782,796 (GRCm39)	E883G	probably benign	Het
Phox2b	T	C	5: 67,253,872 (GRCm39)		probably benign	Het
Pigc	T	A	1: 161,798,663 (GRCm39)	M215K	probably benign	Het
Rab11b	G	C	17: 33,966,740 (GRCm39)	H162D	probably benign	Het
Reln	T	C	5: 22,200,587 (GRCm39)		probably benign	Het
Sucla2	A	G	14: 73,828,492 (GRCm39)	K336R	probably damaging	Het
Zfx	A	G	X: 93,142,413 (GRCm39)	V36A	possibly damaging	Het
Zim1	T	C	7: 6,680,290 (GRCm39)	I458V	probably damaging	Het

Other mutations in Sgo2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Sgo2b	APN	8	64,379,557 (GRCm39)	missense	probably benign
IGL01343:Sgo2b	APN	8	64,380,349 (GRCm39)	nonsense	probably null
IGL02027:Sgo2b	APN	8	64,379,863 (GRCm39)	missense	probably benign
IGL02090:Sgo2b	APN	8	64,380,123 (GRCm39)	missense	probably damaging	0.99
IGL02121:Sgo2b	APN	8	64,384,316 (GRCm39)	missense	possibly damaging	0.94
IGL02206:Sgo2b	APN	8	64,394,118 (GRCm39)	missense	possibly damaging	0.94
IGL02554:Sgo2b	APN	8	64,379,571 (GRCm39)	missense	probably damaging	0.96
IGL02663:Sgo2b	APN	8	64,396,148 (GRCm39)	missense	probably damaging	0.97
IGL03149:Sgo2b	APN	8	64,379,617 (GRCm39)	missense	probably benign	0.14
floater	UTSW	8	64,391,451 (GRCm39)	nonsense	probably null
R0164:Sgo2b	UTSW	8	64,391,417 (GRCm39)	missense	possibly damaging	0.92
R0164:Sgo2b	UTSW	8	64,391,417 (GRCm39)	missense	possibly damaging	0.92
R0201:Sgo2b	UTSW	8	64,379,670 (GRCm39)	missense	probably benign
R0285:Sgo2b	UTSW	8	64,381,823 (GRCm39)	nonsense	probably null
R0325:Sgo2b	UTSW	8	64,381,410 (GRCm39)	missense	probably benign	0.20
R0727:Sgo2b	UTSW	8	64,380,816 (GRCm39)	missense	probably damaging	0.98
R0943:Sgo2b	UTSW	8	64,384,369 (GRCm39)	missense	possibly damaging	0.82
R1148:Sgo2b	UTSW	8	64,379,889 (GRCm39)	missense	probably damaging	0.99
R1266:Sgo2b	UTSW	8	64,381,455 (GRCm39)	missense	probably benign	0.00
R1484:Sgo2b	UTSW	8	64,384,507 (GRCm39)	missense	possibly damaging	0.77
R1493:Sgo2b	UTSW	8	64,379,889 (GRCm39)	missense	probably damaging	0.99
R1537:Sgo2b	UTSW	8	64,379,536 (GRCm39)	missense	possibly damaging	0.94
R1630:Sgo2b	UTSW	8	64,380,831 (GRCm39)	missense	possibly damaging	0.90
R1803:Sgo2b	UTSW	8	64,380,426 (GRCm39)	missense	probably benign	0.01
R1912:Sgo2b	UTSW	8	64,384,503 (GRCm39)	missense	probably damaging	0.98
R1993:Sgo2b	UTSW	8	64,379,867 (GRCm39)	missense	probably benign	0.36
R2042:Sgo2b	UTSW	8	64,381,561 (GRCm39)	missense	probably benign
R2130:Sgo2b	UTSW	8	64,380,181 (GRCm39)	missense	probably benign	0.09
R2146:Sgo2b	UTSW	8	64,381,057 (GRCm39)	missense	probably benign	0.00
R2881:Sgo2b	UTSW	8	64,380,570 (GRCm39)	missense	probably damaging	0.99
R3686:Sgo2b	UTSW	8	64,384,361 (GRCm39)	missense	probably benign	0.20
R3889:Sgo2b	UTSW	8	64,380,777 (GRCm39)	missense	possibly damaging	0.82
R3894:Sgo2b	UTSW	8	64,381,767 (GRCm39)	missense	possibly damaging	0.91
R3895:Sgo2b	UTSW	8	64,381,767 (GRCm39)	missense	possibly damaging	0.91
R4058:Sgo2b	UTSW	8	64,379,981 (GRCm39)	missense	probably damaging	0.98
R4259:Sgo2b	UTSW	8	64,381,330 (GRCm39)	missense	probably benign	0.06
R4260:Sgo2b	UTSW	8	64,381,330 (GRCm39)	missense	probably benign	0.06
R4704:Sgo2b	UTSW	8	64,380,824 (GRCm39)	missense	probably damaging	0.98
R4815:Sgo2b	UTSW	8	64,384,448 (GRCm39)	missense	probably benign
R4922:Sgo2b	UTSW	8	64,379,664 (GRCm39)	missense	possibly damaging	0.66
R5232:Sgo2b	UTSW	8	64,381,636 (GRCm39)	missense	possibly damaging	0.55
R5262:Sgo2b	UTSW	8	64,396,171 (GRCm39)	missense	probably damaging	0.99
R5444:Sgo2b	UTSW	8	64,379,590 (GRCm39)	missense	possibly damaging	0.90
R5677:Sgo2b	UTSW	8	64,380,008 (GRCm39)	missense	possibly damaging	0.77
R5959:Sgo2b	UTSW	8	64,380,322 (GRCm39)	missense	probably benign	0.01
R6004:Sgo2b	UTSW	8	64,379,707 (GRCm39)	nonsense	probably null
R6267:Sgo2b	UTSW	8	64,380,827 (GRCm39)	missense	probably benign
R6296:Sgo2b	UTSW	8	64,380,827 (GRCm39)	missense	probably benign
R6328:Sgo2b	UTSW	8	64,381,345 (GRCm39)	nonsense	probably null
R6517:Sgo2b	UTSW	8	64,384,528 (GRCm39)	missense	probably damaging	0.99
R6523:Sgo2b	UTSW	8	64,380,538 (GRCm39)	missense	probably benign	0.11
R6726:Sgo2b	UTSW	8	64,380,769 (GRCm39)	nonsense	probably null
R6957:Sgo2b	UTSW	8	64,384,489 (GRCm39)	small deletion	probably benign
R7031:Sgo2b	UTSW	8	64,393,078 (GRCm39)	missense	possibly damaging	0.94
R7034:Sgo2b	UTSW	8	64,379,868 (GRCm39)	missense	probably benign	0.36
R7145:Sgo2b	UTSW	8	64,381,218 (GRCm39)	missense	probably damaging	1.00
R7289:Sgo2b	UTSW	8	64,394,192 (GRCm39)	missense	probably damaging	0.97
R7366:Sgo2b	UTSW	8	64,391,451 (GRCm39)	nonsense	probably null
R7660:Sgo2b	UTSW	8	64,393,108 (GRCm39)	missense	probably benign	0.27
R7761:Sgo2b	UTSW	8	64,379,946 (GRCm39)	missense	probably benign
R7762:Sgo2b	UTSW	8	64,379,531 (GRCm39)	missense	probably benign	0.03
R7822:Sgo2b	UTSW	8	64,380,318 (GRCm39)	missense	probably damaging	0.98
R8111:Sgo2b	UTSW	8	64,396,138 (GRCm39)	missense	probably damaging	0.98
R8129:Sgo2b	UTSW	8	64,381,834 (GRCm39)	missense	possibly damaging	0.90
R8273:Sgo2b	UTSW	8	64,377,735 (GRCm39)	missense	unknown
R8856:Sgo2b	UTSW	8	64,393,091 (GRCm39)	missense	probably null	0.99
R9249:Sgo2b	UTSW	8	64,391,407 (GRCm39)	nonsense	probably null
R9428:Sgo2b	UTSW	8	64,393,067 (GRCm39)	missense	probably damaging	0.99
R9616:Sgo2b	UTSW	8	64,380,274 (GRCm39)	missense	probably benign
R9621:Sgo2b	UTSW	8	64,380,651 (GRCm39)	missense	probably damaging	0.99
RF014:Sgo2b	UTSW	8	64,384,439 (GRCm39)	missense	possibly damaging	0.94
RF055:Sgo2b	UTSW	8	64,396,203 (GRCm39)	missense	probably damaging	1.00
Z1088:Sgo2b	UTSW	8	64,381,456 (GRCm39)	missense	possibly damaging	0.61
Z1088:Sgo2b	UTSW	8	64,380,039 (GRCm39)	missense	probably damaging	1.00
Z1177:Sgo2b	UTSW	8	64,381,419 (GRCm39)	missense	possibly damaging	0.82
Z1177:Sgo2b	UTSW	8	64,380,473 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GTTTGGAAGGGAAAGTTGCC -3'
(R):5'- AGGAAGCAAACCCTTTCTCCAG -3'

Sequencing Primer
(F):5'- GCCTTTTTCTAGGAAGTGCATATC -3'
(R):5'- AACCCTTTCTCCAGACATTCAG -3'

Posted On

2015-03-25