Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00961:Stag3'

27492

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stag3

Ensembl Gene

ENSMUSG00000036928

Gene Name

STAG3 cohesin complex component

Synonyms

SA-2, stromalin 3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00961

Quality Score

Status

Chromosome

Chromosomal Location

138278502-138310655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138296611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 490 (K490E)

Ref Sequence

ENSEMBL: ENSMUSP00000125523 (fasta)

Gene Model

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

AlphaFold

O70576

Predicted Effect

probably benign
Transcript: ENSMUST00000048028
AA Change: K490E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928
AA Change: K490E

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 benign
Transcript: ENSMUST00000162245
AA Change: K490E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928
AA Change: K490E

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

Validation Efficiency

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921522P10Rik	C	A	8: 8,713,425 (GRCm39)		probably benign	Het
Arfgef3	T	A	10: 18,486,985 (GRCm39)	I1350F	probably damaging	Het
Arfip1	A	G	3: 84,405,095 (GRCm39)	V236A	probably benign	Het
Bicc1	A	G	10: 70,796,987 (GRCm39)	I124T	probably damaging	Het
Cacnb4	T	A	2: 52,367,724 (GRCm39)	I82F	possibly damaging	Het
Card11	A	T	5: 140,885,464 (GRCm39)	M365K	probably damaging	Het
Chd2	A	G	7: 73,093,997 (GRCm39)	S1560P	probably damaging	Het
Depdc1a	T	A	3: 159,229,451 (GRCm39)	N594K	possibly damaging	Het
Dmbx1	A	T	4: 115,777,203 (GRCm39)	V215E	probably benign	Het
Farp2	A	T	1: 93,549,035 (GRCm39)	E1047V	possibly damaging	Het
Gm21759	A	T	5: 8,229,731 (GRCm39)		probably benign	Het
Gpr182	C	T	10: 127,586,559 (GRCm39)	V131I	probably benign	Het
Irx1	T	C	13: 72,108,076 (GRCm39)	D202G	probably damaging	Het
Lrp6	T	C	6: 134,484,609 (GRCm39)	D338G	probably damaging	Het
Nrxn3	A	T	12: 90,171,320 (GRCm39)	I241L	possibly damaging	Het
Parp6	A	G	9: 59,540,242 (GRCm39)	Y265C	probably damaging	Het
Prex1	G	T	2: 166,427,656 (GRCm39)	Q999K	probably damaging	Het
Rad54b	T	C	4: 11,599,699 (GRCm39)	I301T	probably damaging	Het
Rnf213	A	T	11: 119,331,669 (GRCm39)	I2294F	possibly damaging	Het
Ska3	T	C	14: 58,059,581 (GRCm39)	I81M	possibly damaging	Het
Smap1	T	C	1: 23,887,355 (GRCm39)	N308S	probably benign	Het
Stk11ip	C	T	1: 75,506,910 (GRCm39)	R664C	probably damaging	Het
Tmem176b	T	A	6: 48,811,004 (GRCm39)	I259F	possibly damaging	Het
Usp37	T	C	1: 74,529,314 (GRCm39)	T122A	probably benign	Het
Vmn2r7	T	C	3: 64,623,234 (GRCm39)	E453G	possibly 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
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
R7818:Stag3	UTSW	5	138,299,705 (GRCm39)	missense	probably benign	0.00
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

Posted On

2013-04-17