Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00336:Stag3'

5513

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stag3

Ensembl Gene

ENSMUSG00000036928

Gene Name

stromal antigen 3

Synonyms

SA-2, stromalin 3

Accession Numbers

Ncbi RefSeq: NM_016964.2; MGI:1355311

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00336

Quality Score

Status

Chromosome

Chromosomal Location

138280240-138312393 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 138297659 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 416 (E416K)

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: E416K

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928
AA Change: E416K

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: E416K

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928
AA Change: E416K

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,015,423	D86V	possibly damaging	Het
A430033K04Rik	A	G	5: 138,647,104	Y417C	probably damaging	Het
Adam28	T	A	14: 68,622,120	H548L	possibly damaging	Het
AF529169	T	C	9: 89,603,143	D67G	probably damaging	Het
Agbl3	A	T	6: 34,846,836	D812V	probably damaging	Het
Aox1	T	A	1: 58,059,044	L305Q	probably damaging	Het
Arhgef38	A	G	3: 133,132,051	V706A	probably benign	Het
Arl15	A	G	13: 114,154,752	I171V	probably benign	Het
Cacna1s	C	A	1: 136,084,273	Y237*	probably null	Het
Ccnt1	T	C	15: 98,565,109	T61A	possibly damaging	Het
Col25a1	T	A	3: 130,181,784		probably benign	Het
Col4a1	T	A	8: 11,240,077		probably benign	Het
Dcun1d1	T	C	3: 35,916,306	E130G	possibly damaging	Het
Dnah7b	G	A	1: 46,142,149	M1065I	probably benign	Het
Ephb2	T	G	4: 136,657,484	K872T	probably damaging	Het
Fga	G	A	3: 83,031,674	G452D	probably damaging	Het
Flrt1	T	A	19: 7,096,912	N90I	probably damaging	Het
Fut10	T	A	8: 31,195,291		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr137b	T	C	13: 13,374,415		probably benign	Het
Gprc5d	G	A	6: 135,116,490	Q140*	probably null	Het
Ifi27l2b	T	C	12: 103,451,217	K237R	unknown	Het
Ipo8	A	T	6: 148,782,786	M836K	possibly damaging	Het
Kcnq4	G	A	4: 120,698,016	Q657*	probably null	Het
Lama1	A	T	17: 67,813,948	H2693L	probably benign	Het
Lrrc23	A	G	6: 124,778,926	W40R	probably damaging	Het
Morn2	C	A	17: 80,295,504		probably benign	Het
Ms4a6b	T	A	19: 11,529,490	N214K	possibly damaging	Het
Nags	A	T	11: 102,149,066	S527C	probably damaging	Het
Ndst1	C	T	18: 60,707,956	G218D	probably damaging	Het
Olfr1097	C	T	2: 86,890,245	C310Y	probably benign	Het
Olfr1442	T	A	19: 12,674,560	Y118*	probably null	Het
Olfr16	G	A	1: 172,957,478	V228M	probably benign	Het
Oxa1l	G	T	14: 54,363,345	G92*	probably null	Het
Parp16	A	T	9: 65,229,963	E157V	probably damaging	Het
Pcdh17	A	T	14: 84,447,544	I484F	probably damaging	Het
Pex16	A	G	2: 92,379,235	R263G	probably benign	Het
Pkd1l3	G	A	8: 109,630,237	E765K	possibly damaging	Het
Plce1	T	C	19: 38,651,906	V532A	probably damaging	Het
Polq	A	G	16: 37,065,247		probably benign	Het
Pramel5	T	C	4: 144,271,621	T351A	probably damaging	Het
Prokr1	A	T	6: 87,588,611	I84N	probably damaging	Het
Prss30	A	T	17: 23,973,721	S162T	probably benign	Het
Ranbp2	A	G	10: 58,451,984	K25E	probably damaging	Het
Rapsn	A	G	2: 91,035,860	T22A	probably damaging	Het
Rhoj	G	T	12: 75,308,906	G9V	probably damaging	Het
Rnf213	A	G	11: 119,449,343	R3467G	probably benign	Het
Rreb1	C	A	13: 37,929,646	S327*	probably null	Het
Scn5a	G	A	9: 119,486,224	P1806L	probably damaging	Het
Sema6a	C	A	18: 47,289,975		probably null	Het
Stpg1	T	A	4: 135,529,545	S216T	possibly damaging	Het
Tfeb	C	A	17: 47,791,664	N426K	probably benign	Het
Trp53bp1	G	T	2: 121,256,579	Q199K	possibly damaging	Het
Ubr4	A	G	4: 139,428,566	D2234G	probably damaging	Het
Ush1c	T	G	7: 46,196,770	Q866P	probably benign	Het
Vdr	T	A	15: 97,884,854	D29V	probably damaging	Het
Vps13c	T	C	9: 67,945,942	V2439A	probably benign	Het
Xirp2	T	C	2: 67,512,598	S1728P	possibly damaging	Het
Zfp9	A	G	6: 118,464,475	S409P	probably damaging	Het

Other mutations in Stag3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Stag3	APN	5	138299138	missense	probably damaging	1.00
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
R1608:Stag3	UTSW	5	138298639	splice site	probably null
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
Z1177:Stag3	UTSW	5	138301292	missense	possibly damaging	0.65

Posted On

2012-04-20