Mutagenetix > Incidental Mutation

Incidental Mutation 'R1608:Stag3'

262843

Institutional Source

Beutler Lab

Gene Symbol

Stag3

Ensembl Gene

ENSMUSG00000036928

Gene Name

stromal antigen 3

Synonyms

SA-2, stromalin 3

MMRRC Submission

039645-MU

Accession Numbers

Ncbi RefSeq: NM_016964.2; MGI:1355311

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138280240-138312393 bp(+) (GRCm38)

Type of Mutation

splice site (17 bp from exon)

DNA Base Change (assembly)

T to A at 138298639 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125523 (fasta)

Gene Model

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

AlphaFold

O70576

Predicted Effect

probably null
Transcript: ENSMUST00000048028

SMART Domains

Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928

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

noncoding transcript
Transcript: ENSMUST00000159483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161615

Predicted Effect

probably null
Transcript: ENSMUST00000162245

SMART Domains

Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928

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

Predicted Effect

probably null
Transcript: ENSMUST00000162245

SMART Domains

Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928

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: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

MGI Phenotype

Strain: 5287255
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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	A	G	9: 30,902,479	S797P	probably damaging	Het
Akap9	T	C	5: 3,961,783	Y829H	probably damaging	Het
Anp32a	A	G	9: 62,372,093	D74G	probably damaging	Het
B230118H07Rik	T	C	2: 101,610,571	E29G	probably damaging	Het
B3gat1	T	C	9: 26,751,816	I13T	probably damaging	Het
Cbfa2t3	A	T	8: 122,647,709	V99D	probably damaging	Het
Celsr2	C	T	3: 108,402,483	C1600Y	probably damaging	Het
Ddx31	T	A	2: 28,859,066	N291K	probably damaging	Het
Dennd1a	T	G	2: 37,852,434	M3L	probably benign	Het
Dnah12	C	T	14: 26,766,190	P1017L	probably damaging	Het
Dnajc6	A	T	4: 101,599,167	D86V	probably damaging	Het
Evx2	T	G	2: 74,657,851	K208N	probably damaging	Het
F13a1	A	G	13: 36,868,811	V718A	probably damaging	Het
Fcho2	T	C	13: 98,726,198	D757G	probably benign	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Fryl	C	T	5: 73,074,751	W424*	probably null	Het
Gata3	G	T	2: 9,874,768	Y97*	probably null	Het
Gm15446	T	A	5: 109,942,457	C192S	probably damaging	Het
Hdac10	A	T	15: 89,125,318	D470E	probably benign	Het
Ier2	A	G	8: 84,662,426	L109P	probably benign	Het
Kcnh2	T	C	5: 24,322,219	T559A	probably benign	Het
Khk	C	T	5: 30,930,594	A204V	probably damaging	Het
Kndc1	T	A	7: 139,927,408	M1169K	possibly damaging	Het
Krtap31-1	A	G	11: 99,908,093	S41G	probably benign	Het
Nabp1	T	C	1: 51,473,003		probably null	Het
Nphp3	A	G	9: 104,035,840	D939G	probably benign	Het
Olfr513	A	T	7: 108,755,102	N82I	probably damaging	Het
Plcg2	T	C	8: 117,614,235	I1089T	possibly damaging	Het
Ptk2	A	T	15: 73,262,575	D558E	probably damaging	Het
Serpinb6d	A	G	13: 33,669,129	D168G	probably benign	Het
Shisa8	G	A	15: 82,208,555	P189L	probably damaging	Het
Shkbp1	A	G	7: 27,354,779	V89A	probably benign	Het
Slc40a1	C	T	1: 45,911,297	A332T	probably damaging	Het
Slc44a3	A	T	3: 121,497,847	Y373*	probably null	Het
Slf2	T	C	19: 44,949,001	V722A	probably benign	Het
Spanxn4	A	G	12: 62,687,838		noncoding transcript	Het
Tanc1	T	C	2: 59,797,694	I612T	possibly damaging	Het
Thbs2	T	A	17: 14,685,781	M286L	probably benign	Het
Top1	T	A	2: 160,703,595	N294K	probably benign	Het
Tpr	T	G	1: 150,426,893	L1381V	probably damaging	Het
Trpm8	T	G	1: 88,326,432	S126A	probably benign	Het
Ttc41	A	G	10: 86,775,993	Y1075C	probably damaging	Het
Ubox5	C	T	2: 130,597,456	G418D	probably benign	Het
Vmn1r67	T	C	7: 10,446,980	V57A	possibly damaging	Het
Zbtb5	T	C	4: 44,993,500	H628R	probably damaging	Het
Zfp810	T	C	9: 22,278,920	I231V	probably benign	Het

Other mutations in Stag3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Stag3	APN	5	138299138	missense	probably damaging	1.00
IGL00336:Stag3	APN	5	138297659	missense	probably benign	0.42
IGL00514:Stag3	APN	5	138300135	missense	probably damaging	1.00
IGL00961:Stag3	APN	5	138298349	missense	probably benign	0.01
IGL01923:Stag3	APN	5	138289230	missense	probably damaging	1.00
IGL02252:Stag3	APN	5	138302548	missense	probably damaging	1.00
IGL02424:Stag3	APN	5	138281985	nonsense	probably null
IGL02424:Stag3	APN	5	138291366	missense	probably damaging	1.00
IGL02869:Stag3	APN	5	138282693	missense	probably damaging	0.96
thor	UTSW	5	138301036	critical splice donor site	probably null
R0016:Stag3	UTSW	5	138291381	missense	possibly damaging	0.50
R0038:Stag3	UTSW	5	138301036	critical splice donor site	probably null
R0038:Stag3	UTSW	5	138301036	critical splice donor site	probably null
R0046:Stag3	UTSW	5	138283023	splice site	probably benign
R0046:Stag3	UTSW	5	138283023	splice site	probably benign
R1455:Stag3	UTSW	5	138311735	missense	probably benign	0.00
R1512:Stag3	UTSW	5	138297985	missense	probably benign	0.32
R1530:Stag3	UTSW	5	138297412	missense	probably damaging	0.99
R1736:Stag3	UTSW	5	138304509	splice site	probably benign
R1969:Stag3	UTSW	5	138300138	missense	probably damaging	0.99
R2034:Stag3	UTSW	5	138298001	missense	possibly damaging	0.82
R2214:Stag3	UTSW	5	138301266	missense	possibly damaging	0.92
R2281:Stag3	UTSW	5	138298284	missense	probably damaging	1.00
R2411:Stag3	UTSW	5	138283028	splice site	probably benign
R3792:Stag3	UTSW	5	138298349	missense	probably benign	0.01
R3887:Stag3	UTSW	5	138298839	missense	probably damaging	0.99
R4255:Stag3	UTSW	5	138290881	missense	probably damaging	0.98
R4777:Stag3	UTSW	5	138309199	unclassified	probably benign
R4842:Stag3	UTSW	5	138309365	splice site	probably null
R4854:Stag3	UTSW	5	138296694	splice site	probably null
R5045:Stag3	UTSW	5	138304478	missense	probably damaging	1.00
R5631:Stag3	UTSW	5	138295877	missense	probably damaging	0.96
R5729:Stag3	UTSW	5	138290223	missense	possibly damaging	0.76
R5894:Stag3	UTSW	5	138298838	missense	probably damaging	0.99
R6004:Stag3	UTSW	5	138289206	missense	probably damaging	1.00
R6172:Stag3	UTSW	5	138299843	missense	probably benign	0.41
R6503:Stag3	UTSW	5	138304420	missense	probably damaging	0.96
R6545:Stag3	UTSW	5	138298352	missense	possibly damaging	0.84
R6736:Stag3	UTSW	5	138301499	missense	probably damaging	0.98
R6861:Stag3	UTSW	5	138304707	missense	possibly damaging	0.55
R7012:Stag3	UTSW	5	138297609	splice site	probably null
R7358:Stag3	UTSW	5	138301508	missense	probably damaging	1.00
R7378:Stag3	UTSW	5	138281960	missense	probably benign	0.00
R7392:Stag3	UTSW	5	138291366	missense	probably damaging	1.00
R7395:Stag3	UTSW	5	138281945	missense	probably benign	0.33
R7818:Stag3	UTSW	5	138301443	missense	probably benign	0.00
R8017:Stag3	UTSW	5	138301203	missense	possibly damaging	0.80
R8019:Stag3	UTSW	5	138301203	missense	possibly damaging	0.80
R8076:Stag3	UTSW	5	138283142	missense	probably damaging	0.96
R8393:Stag3	UTSW	5	138296755	missense	probably damaging	0.98
R8405:Stag3	UTSW	5	138304652	missense	probably damaging	0.99
R8417:Stag3	UTSW	5	138308588	missense	probably benign
R8734:Stag3	UTSW	5	138311788	missense	probably benign	0.36
R8848:Stag3	UTSW	5	138290266	missense	probably null	0.97
R8966:Stag3	UTSW	5	138291404	missense	probably damaging	0.99
R9029:Stag3	UTSW	5	138298034	missense	probably damaging	1.00
R9292:Stag3	UTSW	5	138301450	missense	probably benign	0.01
R9410:Stag3	UTSW	5	138299339	missense	possibly damaging	0.95
R9645:Stag3	UTSW	5	138301439	missense	possibly damaging	0.78
R9723:Stag3	UTSW	5	138299841	missense	probably benign
Z1177:Stag3	UTSW	5	138301292	missense	possibly damaging	0.65

Predicted Primers

Posted On

2015-02-04