Mutagenetix > Incidental Mutation

Incidental Mutation 'R7818:Stag3'

601656

Institutional Source

Beutler Lab

Gene Symbol

Stag3

Ensembl Gene

ENSMUSG00000036928

Gene Name

STAG3 cohesin complex component

Synonyms

SA-2, stromalin 3

MMRRC Submission

045872-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7818 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138278502-138310655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138299705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 872 (Q872L)

Ref Sequence

ENSEMBL: ENSMUSP00000125523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048028] [ENSMUST00000160849] [ENSMUST00000162245]

AlphaFold

O70576

Predicted Effect

probably benign
Transcript: ENSMUST00000048028
AA Change: Q872L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928
AA Change: Q872L

Domain	Start	End	E-Value	Type
low complexity region	6	26	N/A	INTRINSIC
low complexity region	75	90	N/A	INTRINSIC
Pfam:STAG	188	301	3.1e-38	PFAM
low complexity region	633	653	N/A	INTRINSIC
low complexity region	1099	1114	N/A	INTRINSIC
low complexity region	1141	1151	N/A	INTRINSIC
low complexity region	1190	1208	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160849

SMART Domains

Protein: ENSMUSP00000125376
Gene: ENSMUSG00000036928

Domain	Start	End	E-Value	Type
low complexity region	80	95	N/A	INTRINSIC
low complexity region	122	132	N/A	INTRINSIC
low complexity region	138	152	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162245
AA Change: Q872L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928
AA Change: Q872L

Domain	Start	End	E-Value	Type
low complexity region	6	26	N/A	INTRINSIC
low complexity region	75	90	N/A	INTRINSIC
Pfam:STAG	185	304	4e-50	PFAM
low complexity region	633	653	N/A	INTRINSIC
low complexity region	1099	1114	N/A	INTRINSIC
low complexity region	1141	1151	N/A	INTRINSIC
low complexity region	1190	1208	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

99% (88/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit azoospermia and lack oocytes. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(2) Gene trapped(1) Transgenic(1)

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,215,519 (GRCm39)	R342S	probably benign	Het
Aatk	C	T	11: 119,912,281 (GRCm39)	V55I	probably benign	Het
Abhd10	T	A	16: 45,557,916 (GRCm39)	I128L	probably benign	Het
Abraxas1	T	A	5: 100,954,176 (GRCm39)	M325L	probably benign	Het
Adgrb2	C	A	4: 129,908,353 (GRCm39)	L1087I	probably damaging	Het
Adgrb2	C	T	4: 129,908,762 (GRCm39)	P1124S	possibly damaging	Het
Akap9	T	A	5: 4,063,875 (GRCm39)	Y1741*	probably null	Het
Ap1g2	A	T	14: 55,337,181 (GRCm39)	V718D	probably benign	Het
Asph	A	T	4: 9,475,015 (GRCm39)	M637K	probably damaging	Het
Atp2c1	T	C	9: 105,291,956 (GRCm39)	I869V	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cacna1e	T	C	1: 154,274,152 (GRCm39)	D2251G	probably damaging	Het
Camk2b	A	G	11: 5,927,812 (GRCm39)	S413P	probably benign	Het
Casz1	G	A	4: 149,030,533 (GRCm39)	C1184Y	probably damaging	Het
Cbr4	G	A	8: 61,940,976 (GRCm39)	V32I	probably benign	Het
Ccdc166	A	G	15: 75,852,864 (GRCm39)	S368P	possibly damaging	Het
Ccdc170	A	G	10: 4,499,603 (GRCm39)	N508S	probably benign	Het
Ccdc187	A	G	2: 26,166,186 (GRCm39)	S748P	possibly damaging	Het
Cdca8	A	T	4: 124,820,456 (GRCm39)		probably null	Het
Cep120	T	C	18: 53,856,175 (GRCm39)	D414G	probably benign	Het
Dcp1a	G	T	14: 30,201,678 (GRCm39)	A34S	probably damaging	Het
Ddit3	C	T	10: 127,131,662 (GRCm39)	T70I	probably benign	Het
Dlg2	C	G	7: 91,589,225 (GRCm39)	A313G	probably damaging	Het
Dnah9	A	T	11: 65,916,037 (GRCm39)	V2305D	possibly damaging	Het
Dock1	T	A	7: 134,365,594 (GRCm39)	D427E	probably damaging	Het
Dolpp1	T	C	2: 30,286,503 (GRCm39)	L141P	probably benign	Het
Dsc2	A	T	18: 20,183,189 (GRCm39)	D76E	probably damaging	Het
Dusp7	C	A	9: 106,246,329 (GRCm39)	N111K	probably benign	Het
Fam193a	A	G	5: 34,622,997 (GRCm39)	E1195G	possibly damaging	Het
Fig4	A	G	10: 41,139,162 (GRCm39)	L347P	probably damaging	Het
Frem1	T	C	4: 82,932,245 (GRCm39)	E152G	probably damaging	Het
Galnt2	G	T	8: 125,056,527 (GRCm39)	D234Y	probably damaging	Het
H1f3	C	T	13: 23,739,165 (GRCm39)		probably benign	Het
Igkv4-59	T	C	6: 69,415,475 (GRCm39)	T27A	possibly damaging	Het
Ihh	T	C	1: 74,985,804 (GRCm39)	D227G	possibly damaging	Het
Il1rap	T	A	16: 26,517,597 (GRCm39)	C266S	probably damaging	Het
Iqcf4	A	T	9: 106,447,738 (GRCm39)	L57*	probably null	Het
Kif2b	A	G	11: 91,466,952 (GRCm39)	S444P	probably damaging	Het
Lmf1	T	G	17: 25,881,565 (GRCm39)	I538S	probably benign	Het
Mical2	A	G	7: 111,944,514 (GRCm39)	Y948C	probably damaging	Het
Mr1	G	A	1: 155,006,382 (GRCm39)	Q322*	probably null	Het
Mroh2a	T	C	1: 88,162,334 (GRCm39)		probably null	Het
Mup6	A	G	4: 60,004,884 (GRCm39)	T100A	probably benign	Het
Mybpc1	T	A	10: 88,394,529 (GRCm39)	D266V	probably damaging	Het
Myocos	T	C	1: 162,475,063 (GRCm39)	N48S	unknown	Het
Naf1	G	A	8: 67,342,028 (GRCm39)	G551E	probably damaging	Het
Nrarp	A	G	2: 25,071,250 (GRCm39)	N43S	possibly damaging	Het
Or4a80	A	G	2: 89,582,288 (GRCm39)	S295P	possibly damaging	Het
Or5p52	G	A	7: 107,502,230 (GRCm39)	C102Y	probably benign	Het
Or7a40	A	C	16: 16,491,437 (GRCm39)	M136R	probably damaging	Het
Or7g19	T	A	9: 18,856,305 (GRCm39)	Y120*	probably null	Het
Or8b57	T	A	9: 40,004,008 (GRCm39)	M85L	probably damaging	Het
Padi3	T	A	4: 140,525,453 (GRCm39)	T177S	possibly damaging	Het
Pde3b	A	G	7: 114,090,675 (GRCm39)	M305V	probably damaging	Het
Pde6a	T	A	18: 61,414,580 (GRCm39)		probably null	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Prph	A	G	15: 98,955,753 (GRCm39)	T446A	probably damaging	Het
Pwwp2b	T	C	7: 138,835,240 (GRCm39)	V227A	probably benign	Het
Rev3l	T	C	10: 39,699,898 (GRCm39)	I1465T	possibly damaging	Het
Rin1	A	G	19: 5,102,219 (GRCm39)	S243G	probably benign	Het
Ripor3	A	T	2: 167,831,346 (GRCm39)	I485N	probably benign	Het
Rnpc3	G	T	3: 113,423,600 (GRCm39)	P35Q	probably damaging	Het
Sbpl	G	T	17: 24,172,236 (GRCm39)	Q228K	unknown	Het
Scn11a	A	C	9: 119,613,177 (GRCm39)	N804K	probably damaging	Het
Selenoo	A	G	15: 88,981,019 (GRCm39)	T453A	probably damaging	Het
Sez6	C	T	11: 77,867,728 (GRCm39)	P882S	probably damaging	Het
Skint5	C	T	4: 113,799,923 (GRCm39)	R82H	possibly damaging	Het
Slc18a2	A	C	19: 59,251,593 (GRCm39)	T115P	probably benign	Het
Slc1a2	A	G	2: 102,574,301 (GRCm39)	D237G	probably benign	Het
Spidr	T	C	16: 15,932,729 (GRCm39)	S184G	probably damaging	Het
Suds3	T	C	5: 117,253,814 (GRCm39)		probably benign	Het
Sv2c	T	A	13: 96,123,328 (GRCm39)	K382*	probably null	Het
Taf2	T	C	15: 54,929,326 (GRCm39)	I77V	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tdrd3	G	T	14: 87,709,636 (GRCm39)	C100F	probably damaging	Het
Tek	T	A	4: 94,715,953 (GRCm39)	H458Q	possibly damaging	Het
Tes	C	A	6: 17,099,743 (GRCm39)	P246Q	probably damaging	Het
Tgif1	A	T	17: 71,156,603 (GRCm39)		probably null	Het
Tlr11	A	T	14: 50,599,285 (GRCm39)	N424Y	probably damaging	Het
Tmc8	A	T	11: 117,682,953 (GRCm39)	N626I	probably damaging	Het
Tmem132c	T	A	5: 127,641,152 (GRCm39)	*1108K	probably null	Het
Tnks	A	T	8: 35,340,182 (GRCm39)	Y479N	probably benign	Het
Trip12	C	T	1: 84,738,527 (GRCm39)	G776D	probably damaging	Het
Tssk1	A	G	16: 17,712,311 (GRCm39)	E32G	probably benign	Het
Ube2o	T	C	11: 116,434,736 (GRCm39)	D575G	probably damaging	Het
Uckl1	A	T	2: 181,216,460 (GRCm39)	M16K	probably damaging	Het
Zfp948	A	T	17: 21,807,985 (GRCm39)	E392D	probably benign	Het
Zmynd8	G	A	2: 165,684,751 (GRCm39)	T167I	probably damaging	Het

Other mutations in Stag3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Stag3	APN	5	138,297,400 (GRCm39)	missense	probably damaging	1.00
IGL00336:Stag3	APN	5	138,295,921 (GRCm39)	missense	probably benign	0.42
IGL00514:Stag3	APN	5	138,298,397 (GRCm39)	missense	probably damaging	1.00
IGL00961:Stag3	APN	5	138,296,611 (GRCm39)	missense	probably benign	0.01
IGL01923:Stag3	APN	5	138,287,492 (GRCm39)	missense	probably damaging	1.00
IGL02252:Stag3	APN	5	138,300,810 (GRCm39)	missense	probably damaging	1.00
IGL02424:Stag3	APN	5	138,289,628 (GRCm39)	missense	probably damaging	1.00
IGL02424:Stag3	APN	5	138,280,247 (GRCm39)	nonsense	probably null
IGL02869:Stag3	APN	5	138,280,955 (GRCm39)	missense	probably damaging	0.96
thor	UTSW	5	138,299,298 (GRCm39)	critical splice donor site	probably null
R0016:Stag3	UTSW	5	138,289,643 (GRCm39)	missense	possibly damaging	0.50
R0038:Stag3	UTSW	5	138,299,298 (GRCm39)	critical splice donor site	probably null
R0038:Stag3	UTSW	5	138,299,298 (GRCm39)	critical splice donor site	probably null
R0046:Stag3	UTSW	5	138,281,285 (GRCm39)	splice site	probably benign
R0046:Stag3	UTSW	5	138,281,285 (GRCm39)	splice site	probably benign
R1455:Stag3	UTSW	5	138,309,997 (GRCm39)	missense	probably benign	0.00
R1512:Stag3	UTSW	5	138,296,247 (GRCm39)	missense	probably benign	0.32
R1530:Stag3	UTSW	5	138,295,674 (GRCm39)	missense	probably damaging	0.99
R1608:Stag3	UTSW	5	138,296,901 (GRCm39)	splice site	probably null
R1736:Stag3	UTSW	5	138,302,771 (GRCm39)	splice site	probably benign
R1969:Stag3	UTSW	5	138,298,400 (GRCm39)	missense	probably damaging	0.99
R2034:Stag3	UTSW	5	138,296,263 (GRCm39)	missense	possibly damaging	0.82
R2214:Stag3	UTSW	5	138,299,528 (GRCm39)	missense	possibly damaging	0.92
R2281:Stag3	UTSW	5	138,296,546 (GRCm39)	missense	probably damaging	1.00
R2411:Stag3	UTSW	5	138,281,290 (GRCm39)	splice site	probably benign
R3792:Stag3	UTSW	5	138,296,611 (GRCm39)	missense	probably benign	0.01
R3887:Stag3	UTSW	5	138,297,101 (GRCm39)	missense	probably damaging	0.99
R4255:Stag3	UTSW	5	138,289,143 (GRCm39)	missense	probably damaging	0.98
R4777:Stag3	UTSW	5	138,307,461 (GRCm39)	unclassified	probably benign
R4842:Stag3	UTSW	5	138,307,627 (GRCm39)	splice site	probably null
R4854:Stag3	UTSW	5	138,294,956 (GRCm39)	splice site	probably null
R5045:Stag3	UTSW	5	138,302,740 (GRCm39)	missense	probably damaging	1.00
R5631:Stag3	UTSW	5	138,294,139 (GRCm39)	missense	probably damaging	0.96
R5729:Stag3	UTSW	5	138,288,485 (GRCm39)	missense	possibly damaging	0.76
R5894:Stag3	UTSW	5	138,297,100 (GRCm39)	missense	probably damaging	0.99
R6004:Stag3	UTSW	5	138,287,468 (GRCm39)	missense	probably damaging	1.00
R6172:Stag3	UTSW	5	138,298,105 (GRCm39)	missense	probably benign	0.41
R6503:Stag3	UTSW	5	138,302,682 (GRCm39)	missense	probably damaging	0.96
R6545:Stag3	UTSW	5	138,296,614 (GRCm39)	missense	possibly damaging	0.84
R6736:Stag3	UTSW	5	138,299,761 (GRCm39)	missense	probably damaging	0.98
R6861:Stag3	UTSW	5	138,302,969 (GRCm39)	missense	possibly damaging	0.55
R7012:Stag3	UTSW	5	138,295,871 (GRCm39)	splice site	probably null
R7358:Stag3	UTSW	5	138,299,770 (GRCm39)	missense	probably damaging	1.00
R7378:Stag3	UTSW	5	138,280,222 (GRCm39)	missense	probably benign	0.00
R7392:Stag3	UTSW	5	138,289,628 (GRCm39)	missense	probably damaging	1.00
R7395:Stag3	UTSW	5	138,280,207 (GRCm39)	missense	probably benign	0.33
R8017:Stag3	UTSW	5	138,299,465 (GRCm39)	missense	possibly damaging	0.80
R8019:Stag3	UTSW	5	138,299,465 (GRCm39)	missense	possibly damaging	0.80
R8076:Stag3	UTSW	5	138,281,404 (GRCm39)	missense	probably damaging	0.96
R8393:Stag3	UTSW	5	138,295,017 (GRCm39)	missense	probably damaging	0.98
R8405:Stag3	UTSW	5	138,302,914 (GRCm39)	missense	probably damaging	0.99
R8417:Stag3	UTSW	5	138,306,850 (GRCm39)	missense	probably benign
R8734:Stag3	UTSW	5	138,310,050 (GRCm39)	missense	probably benign	0.36
R8848:Stag3	UTSW	5	138,288,528 (GRCm39)	missense	probably null	0.97
R8966:Stag3	UTSW	5	138,289,666 (GRCm39)	missense	probably damaging	0.99
R9029:Stag3	UTSW	5	138,296,296 (GRCm39)	missense	probably damaging	1.00
R9292:Stag3	UTSW	5	138,299,712 (GRCm39)	missense	probably benign	0.01
R9410:Stag3	UTSW	5	138,297,601 (GRCm39)	missense	possibly damaging	0.95
R9645:Stag3	UTSW	5	138,299,701 (GRCm39)	missense	possibly damaging	0.78
R9723:Stag3	UTSW	5	138,298,103 (GRCm39)	missense	probably benign
Z1177:Stag3	UTSW	5	138,299,554 (GRCm39)	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- AGCTACTCTCCAGTCGGAAC -3'
(R):5'- TGACTTCCTTTCTGAGATGCTG -3'

Sequencing Primer
(F):5'- GAACTAGCCAGCTTCCTCATGG -3'
(R):5'- CTGCAATGTCTGAAGCCAGG -3'

Posted On

2019-12-03