Mutagenetix > Incidental Mutation

Incidental Mutation 'R5959:Sgo2b'

471353

Institutional Source

Beutler Lab

Gene Symbol

Sgo2b

Ensembl Gene

ENSMUSG00000094443

Gene Name

shugoshin 2B

Synonyms

Gm4975, Sgol2b

MMRRC Submission

044146-MU

Accession Numbers

Essential gene?

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

Stock #

R5959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64377728-64405204 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64380322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 837 (I837F)

Ref Sequence

ENSEMBL: ENSMUSP00000136323 (fasta)

Gene Model

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

AlphaFold

J3QMK1

Predicted Effect

probably benign
Transcript: ENSMUST00000179944
AA Change: I837F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000136323
Gene: ENSMUSG00000094443
AA Change: I837F

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	T	11: 84,106,792 (GRCm39)	N164Y	probably damaging	Het
Acp6	A	G	3: 97,073,888 (GRCm39)	E164G	probably damaging	Het
Adcy5	A	T	16: 35,118,780 (GRCm39)	I1044F	probably damaging	Het
Ahcyl2	A	G	6: 29,886,173 (GRCm39)	D363G	probably damaging	Het
Ankrd28	T	C	14: 31,451,879 (GRCm39)	T273A	probably benign	Het
Cc2d1a	A	T	8: 84,860,132 (GRCm39)	Y862*	probably null	Het
Cfap221	T	A	1: 119,860,511 (GRCm39)	H705L	probably damaging	Het
Cfap61	C	T	2: 145,789,053 (GRCm39)	T19M	probably benign	Het
Chga	T	C	12: 102,528,114 (GRCm39)	S202P	probably benign	Het
Cnmd	T	C	14: 79,894,109 (GRCm39)	I93V	probably damaging	Het
Cpne1	G	A	2: 155,920,143 (GRCm39)	S188L	probably benign	Het
Dchs2	G	A	3: 83,232,725 (GRCm39)	V2237I	probably benign	Het
Dguok	C	T	6: 83,467,574 (GRCm39)	R91H	probably benign	Het
Eed	A	G	7: 89,618,835 (GRCm39)	I193T	probably damaging	Het
Fasn	C	T	11: 120,699,390 (GRCm39)	E2353K	probably damaging	Het
Fpr-rs7	G	A	17: 20,334,011 (GRCm39)	H160Y	probably benign	Het
Gramd4	T	A	15: 86,011,758 (GRCm39)	M272K	probably damaging	Het
Hfm1	A	G	5: 107,022,783 (GRCm39)	S940P	probably damaging	Het
Ifnlr1	T	A	4: 135,432,652 (GRCm39)	S363T	possibly damaging	Het
Jak3	A	G	8: 72,134,715 (GRCm39)	N481D	probably damaging	Het
Kcnj3	A	G	2: 55,327,330 (GRCm39)	K40E	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Lpcat4	T	A	2: 112,070,380 (GRCm39)	L31H	possibly damaging	Het
Myo1c	A	G	11: 75,548,345 (GRCm39)	T38A	probably benign	Het
Myt1l	T	C	12: 29,970,039 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,338,802 (GRCm39)	V214A	probably damaging	Het
Neb	C	A	2: 52,046,389 (GRCm39)	R6537L	probably benign	Het
Nwd2	T	A	5: 63,965,413 (GRCm39)	F1666I	probably benign	Het
Or52z1	T	A	7: 103,436,723 (GRCm39)	I254F	probably damaging	Het
Or8b1	A	G	9: 38,400,207 (GRCm39)	N294S	probably damaging	Het
Prmt8	C	A	6: 127,706,381 (GRCm39)	V137L	probably damaging	Het
Ptpn21	A	T	12: 98,675,148 (GRCm39)		probably null	Het
Rab15	A	G	12: 76,869,043 (GRCm39)	S17P	probably damaging	Het
Rbm5	T	G	9: 107,629,339 (GRCm39)	I338L	probably benign	Het
Rragc	G	A	4: 123,817,767 (GRCm39)	S218N	probably damaging	Het
Sacs	T	C	14: 61,449,849 (GRCm39)	M3965T	probably damaging	Het
Sorcs3	T	G	19: 48,737,835 (GRCm39)	C751G	probably damaging	Het
Sowahc	A	G	10: 59,058,920 (GRCm39)	D352G	probably benign	Het
Sox15	C	T	11: 69,546,556 (GRCm39)	R120C	probably damaging	Het
Spata31f1e	T	A	4: 42,793,492 (GRCm39)	K213N	probably damaging	Het
Srr	A	G	11: 74,801,891 (GRCm39)	V126A	possibly damaging	Het
Tenm3	T	A	8: 49,099,482 (GRCm39)	R108*	probably null	Het
Traf3ip2	A	T	10: 39,517,337 (GRCm39)	M403L	probably benign	Het
Trappc11	T	C	8: 47,954,593 (GRCm39)	D949G	probably damaging	Het
Ttn	A	G	2: 76,544,960 (GRCm39)	I32714T	probably damaging	Het
Ttn	T	A	2: 76,693,849 (GRCm39)	T218S	possibly damaging	Het
Uaca	A	T	9: 60,778,052 (GRCm39)	H811L	probably damaging	Het
Ugt2b1	T	C	5: 87,073,813 (GRCm39)	E182G	probably benign	Het
Vmn1r49	T	C	6: 90,049,786 (GRCm39)	D72G	probably damaging	Het
Vmn2r80	A	T	10: 79,005,313 (GRCm39)	M317L	probably benign	Het
Vwa2	T	C	19: 56,869,604 (GRCm39)	L13P	possibly damaging	Het
Zc3hav1	G	A	6: 38,284,379 (GRCm39)	T912I	probably benign	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfp948	A	G	17: 21,807,776 (GRCm39)	K323E	probably benign	Het
Zfyve27	T	G	19: 42,167,887 (GRCm39)	V143G	unknown	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
R3706:Sgo2b	UTSW	8	64,381,179 (GRCm39)	missense	probably damaging	0.98
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
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'- TAACCGCAGACTACACCTGTTC -3'
(R):5'- GCCTGCTTGTCAAGGTGATTC -3'

Sequencing Primer
(F):5'- AACCGCAGACTACACCTGTTCTTATC -3'
(R):5'- CCTGCTTGTCAAGGTGATTCAAAAG -3'

Posted On

2017-03-31