Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02869:Stag3'

362463

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 #

IGL02869

Quality Score

Status

Chromosome

Chromosomal Location

138278502-138310655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138280955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 49 (K49R)

Ref Sequence

ENSEMBL: ENSMUSP00000125290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014089] [ENSMUST00000048028] [ENSMUST00000159067] [ENSMUST00000160729] [ENSMUST00000161691] [ENSMUST00000162245] [ENSMUST00000161984] [ENSMUST00000161827]

AlphaFold

O70576

Predicted Effect

probably benign
Transcript: ENSMUST00000014089

SMART Domains

Protein: ENSMUSP00000014089
Gene: ENSMUSG00000029510

Domain	Start	End	E-Value	Type
Pfam:Glypican	7	560	2.8e-186	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000048028
AA Change: K80R

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928
AA Change: K80R

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: ENSMUST00000159067

SMART Domains

Protein: ENSMUSP00000125178
Gene: ENSMUSG00000106247

Domain	Start	End	E-Value	Type
Pfam:Glypican	7	250	1e-90	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159689

Predicted Effect

probably benign
Transcript: ENSMUST00000160729
AA Change: K80R

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124170
Gene: ENSMUSG00000036928
AA Change: K80R

Domain	Start	End	E-Value	Type
low complexity region	6	26	N/A	INTRINSIC
low complexity region	75	90	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161691
AA Change: K49R

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125290
Gene: ENSMUSG00000036928
AA Change: K49R

Domain	Start	End	E-Value	Type
low complexity region	44	59	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162245
AA Change: K80R

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928
AA Change: K80R

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

noncoding transcript
Transcript: ENSMUST00000162909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161055

Predicted Effect

probably benign
Transcript: ENSMUST00000161984

SMART Domains

Protein: ENSMUSP00000137879
Gene: ENSMUSG00000029510

Domain	Start	End	E-Value	Type
Pfam:Glypican	7	342	3.7e-134	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161827

SMART Domains

Protein: ENSMUSP00000124459
Gene: ENSMUSG00000029510

Domain	Start	End	E-Value	Type
Pfam:Glypican	11	566	3.1e-199	PFAM

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,685,323 (GRCm39)	S1142T	possibly damaging	Het
Aadacl4fm5	T	C	4: 144,512,938 (GRCm39)	I54V	probably benign	Het
Actr3b	T	G	5: 26,037,433 (GRCm39)	V215G	probably damaging	Het
Adam9	C	T	8: 25,460,634 (GRCm39)	V617M	probably damaging	Het
Adgrl2	G	T	3: 148,596,241 (GRCm39)	P32T	probably damaging	Het
Afg2a	G	T	3: 37,518,694 (GRCm39)	G743W	probably damaging	Het
Ago3	A	T	4: 126,261,580 (GRCm39)		probably benign	Het
Allc	A	C	12: 28,623,206 (GRCm39)	I20M	probably benign	Het
Asic3	G	A	5: 24,621,972 (GRCm39)	W361*	probably null	Het
Atf7ip	A	G	6: 136,583,577 (GRCm39)	K1203E	probably damaging	Het
Babam2	C	A	5: 32,162,116 (GRCm39)	H272Q	possibly damaging	Het
Baz2b	G	A	2: 59,807,872 (GRCm39)	T129I	probably benign	Het
C130073F10Rik	A	T	4: 101,747,590 (GRCm39)	Y146*	probably null	Het
Cd247	A	G	1: 165,684,986 (GRCm39)	E74G	probably damaging	Het
Cdh17	A	T	4: 11,814,908 (GRCm39)	Q778L	probably benign	Het
Ceacam1	T	C	7: 25,175,966 (GRCm39)	D76G	probably benign	Het
Cela3a	T	C	4: 137,131,145 (GRCm39)	K198E	probably benign	Het
Cemip2	T	A	19: 21,789,241 (GRCm39)	D558E	probably damaging	Het
Ces2a	T	A	8: 105,465,691 (GRCm39)	D281E	probably damaging	Het
Cetn2	A	T	X: 71,958,527 (GRCm39)	D116E	probably damaging	Het
Cracd	A	G	5: 77,006,890 (GRCm39)	K1084E	unknown	Het
Ctu2	G	T	8: 123,205,530 (GRCm39)		probably null	Het
Cybb	T	C	X: 9,308,828 (GRCm39)	N469D	probably benign	Het
Cygb	C	T	11: 116,540,749 (GRCm39)	R79Q	probably damaging	Het
Cyp2d10	C	T	15: 82,288,069 (GRCm39)	V186M	possibly damaging	Het
Defb29	T	A	2: 152,380,942 (GRCm39)		probably null	Het
Depdc7	T	G	2: 104,560,694 (GRCm39)	Q100P	probably damaging	Het
Dhx30	A	C	9: 109,926,251 (GRCm39)	I91R	probably damaging	Het
Dnm1l	T	A	16: 16,159,288 (GRCm39)	K105*	probably null	Het
Eddm13	T	C	7: 6,272,898 (GRCm39)		probably benign	Het
Efhc1	T	C	1: 21,037,567 (GRCm39)	I248T	probably damaging	Het
Elapor1	A	G	3: 108,380,182 (GRCm39)	I309T	probably benign	Het
Entpd2	A	G	2: 25,288,120 (GRCm39)	T115A	probably damaging	Het
Epb42	G	T	2: 120,856,227 (GRCm39)	A439E	probably benign	Het
Esm1	T	G	13: 113,346,618 (GRCm39)	L81R	probably damaging	Het
F8	T	C	X: 74,330,987 (GRCm39)	S968G	probably benign	Het
Fam234b	T	G	6: 135,202,201 (GRCm39)	Y308D	probably damaging	Het
Fbxo46	T	G	7: 18,871,139 (GRCm39)	V586G	probably damaging	Het
Foxp1	C	A	6: 98,907,044 (GRCm39)		probably benign	Het
Gm10754	A	T	10: 97,518,136 (GRCm39)		probably benign	Het
Gm12695	A	C	4: 96,650,370 (GRCm39)		probably benign	Het
Gm5468	T	C	15: 25,414,726 (GRCm39)		probably benign	Het
Grhl1	T	C	12: 24,631,490 (GRCm39)	S66P	probably damaging	Het
Gstt3	A	T	10: 75,612,576 (GRCm39)		probably null	Het
Gtf2i	A	G	5: 134,308,281 (GRCm39)		probably benign	Het
Gzmk	C	A	13: 113,308,560 (GRCm39)	G175C	probably damaging	Het
Helz2	T	C	2: 180,872,939 (GRCm39)		probably benign	Het
Ift20	T	C	11: 78,430,780 (GRCm39)		probably benign	Het
Intu	A	G	3: 40,642,216 (GRCm39)	D491G	probably damaging	Het
Itch	G	T	2: 155,015,853 (GRCm39)		probably null	Het
Itgb5	A	G	16: 33,665,362 (GRCm39)	N26S	possibly damaging	Het
Lama2	A	T	10: 26,891,534 (GRCm39)	S2526R	probably damaging	Het
Lat2	A	G	5: 134,637,027 (GRCm39)	I40T	probably damaging	Het
Lipa	T	A	19: 34,471,397 (GRCm39)	M393L	probably benign	Het
Lipa	G	T	19: 34,471,371 (GRCm39)		probably benign	Het
Lpcat1	T	A	13: 73,632,417 (GRCm39)	L10H	probably damaging	Het
Lpcat3	T	C	6: 124,679,970 (GRCm39)	Y348H	possibly damaging	Het
Lrp1b	A	T	2: 40,591,842 (GRCm39)	N50K	unknown	Het
Lrrk2	T	A	15: 91,634,480 (GRCm39)	Y1415N	probably damaging	Het
Lsamp	A	T	16: 41,965,078 (GRCm39)	T312S	probably benign	Het
Man2a2	T	C	7: 80,013,689 (GRCm39)	E454G	probably benign	Het
Mcm3	T	C	1: 20,879,063 (GRCm39)	K570R	probably damaging	Het
Mctp2	C	A	7: 71,878,219 (GRCm39)		probably null	Het
Msantd2	T	G	9: 37,434,796 (GRCm39)	C345W	probably damaging	Het
Musk	T	C	4: 58,354,078 (GRCm39)	I362T	probably benign	Het
Myh15	A	T	16: 48,965,767 (GRCm39)	N1224I	probably benign	Het
Myo18a	A	G	11: 77,755,612 (GRCm39)	Y1983C	probably damaging	Het
Myo18a	C	T	11: 77,720,699 (GRCm39)		probably benign	Het
Myrfl	G	T	10: 116,664,909 (GRCm39)	Q374K	probably damaging	Het
Ndrg1	T	A	15: 66,818,346 (GRCm39)	Q87H	probably benign	Het
Nol9	G	A	4: 152,131,030 (GRCm39)	C351Y	probably damaging	Het
Nr5a1	A	G	2: 38,598,141 (GRCm39)	S219P	probably benign	Het
Or8b43	T	C	9: 38,360,489 (GRCm39)	F107S	possibly damaging	Het
Or8g28	A	T	9: 39,169,520 (GRCm39)	Y149*	probably null	Het
Pcdhb19	A	G	18: 37,631,690 (GRCm39)	D495G	probably damaging	Het
Pfkm	A	G	15: 98,026,123 (GRCm39)	M573V	probably damaging	Het
Plec	A	T	15: 76,065,516 (GRCm39)	L1586Q	probably damaging	Het
Prelp	C	A	1: 133,843,005 (GRCm39)	E47*	probably null	Het
Rbm33	T	A	5: 28,615,753 (GRCm39)	I32N	probably damaging	Het
Rgs12	A	T	5: 35,183,227 (GRCm39)	D310V	probably damaging	Het
Ripor2	A	C	13: 24,880,512 (GRCm39)	H404P	possibly damaging	Het
Sh3d21	T	C	4: 126,056,034 (GRCm39)	E124G	probably benign	Het
Shroom2	C	T	X: 151,442,549 (GRCm39)	S872N	probably benign	Het
Slc44a5	A	G	3: 153,956,651 (GRCm39)	Y301C	probably damaging	Het
Smap1	A	T	1: 23,930,995 (GRCm39)	H66Q	possibly damaging	Het
Smyd1	G	T	6: 71,198,007 (GRCm39)		probably benign	Het
Sptbn4	T	A	7: 27,093,573 (GRCm39)		probably benign	Het
Srsf3-ps	T	A	11: 98,516,146 (GRCm39)	R76*	probably null	Het
Stim1	C	A	7: 101,917,758 (GRCm39)	A46E	unknown	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tbc1d19	A	G	5: 53,992,559 (GRCm39)	T114A	probably benign	Het
Tln2	G	A	9: 67,128,807 (GRCm39)		probably benign	Het
Trmt10a	T	A	3: 137,857,945 (GRCm39)		probably null	Het
Vwde	G	A	6: 13,187,136 (GRCm39)	H784Y	probably damaging	Het
Zfp773	T	C	7: 7,137,232 (GRCm39)	T121A	probably benign	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
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

2015-12-18