Mutagenetix > Incidental Mutations

Incidental Mutation 'R1170:Stag1'

99313

Institutional Source

Beutler Lab

Gene Symbol

Stag1

Ensembl Gene

ENSMUSG00000037286

Gene Name

stromal antigen 1

Synonyms

Scc3, SA-1

MMRRC Submission

039243-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1170 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100597798-100959375 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 100888453 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118952 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041418] [ENSMUST00000123302] [ENSMUST00000129269] [ENSMUST00000155108]

Predicted Effect

probably benign
Transcript: ENSMUST00000041418

SMART Domains

Protein: ENSMUSP00000040724
Gene: ENSMUSG00000037286

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
low complexity region	59	72	N/A	INTRINSIC
Pfam:STAG	157	276	1.5e-50	PFAM
SCOP:d1qbkb_	279	850	4e-5	SMART
low complexity region	1062	1081	N/A	INTRINSIC
low complexity region	1107	1120	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123302

SMART Domains

Protein: ENSMUSP00000117879
Gene: ENSMUSG00000037286

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
low complexity region	59	72	N/A	INTRINSIC
Pfam:STAG	157	276	2.9e-51	PFAM
low complexity region	303	315	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129269

SMART Domains

Protein: ENSMUSP00000116205
Gene: ENSMUSG00000037286

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
low complexity region	59	72	N/A	INTRINSIC
Pfam:STAG	160	274	3.8e-41	PFAM
SCOP:d1qbkb_	279	850	3e-5	SMART
low complexity region	1062	1081	N/A	INTRINSIC
low complexity region	1107	1120	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143955

SMART Domains

Protein: ENSMUSP00000115460
Gene: ENSMUSG00000037286

Domain	Start	End	E-Value	Type
low complexity region	232	251	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146934

SMART Domains

Protein: ENSMUSP00000120974
Gene: ENSMUSG00000037286

Domain	Start	End	E-Value	Type
low complexity region	673	692	N/A	INTRINSIC
low complexity region	718	731	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149771

Predicted Effect

probably benign
Transcript: ENSMUST00000155108

SMART Domains

Protein: ENSMUSP00000118952
Gene: ENSMUSG00000037286

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
low complexity region	59	72	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (105/105)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mouse embryos homozygous for a null mutation show developmental delay and die before birth. Heterozygous animals have shorter lifespan and earlier onset of tumourigenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	A	G	1: 151,980,412		probably benign	Het
4932438A13Rik	T	C	3: 37,044,631	S1136P	probably damaging	Het
Akap9	G	A	5: 4,055,671	S2914N	probably benign	Het
Alk	T	C	17: 71,900,734	D1002G	probably damaging	Het
Ap3d1	A	G	10: 80,732,840		probably benign	Het
Asb15	T	C	6: 24,562,487		probably benign	Het
Asxl3	C	A	18: 22,524,507	P1858Q	probably benign	Het
BC003331	T	A	1: 150,386,391	E99D	probably benign	Het
Bud31	T	A	5: 145,142,578		probably benign	Het
C1qtnf1	G	T	11: 118,448,269	R255L	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cage1	C	T	13: 38,022,880	E330K	probably damaging	Het
Catsperz	T	A	19: 6,924,949	N59I	probably benign	Het
Ccdc110	G	T	8: 45,941,885	S271I	probably benign	Het
Ccdc88b	T	A	19: 6,853,213	E787V	probably damaging	Het
Ccna2	A	T	3: 36,568,970		probably benign	Het
Cd36	T	A	5: 17,813,088	D209V	probably damaging	Het
Cers4	T	A	8: 4,519,475	W161R	probably damaging	Het
Ces2f	T	A	8: 104,953,546	H442Q	probably damaging	Het
Chchd6	A	C	6: 89,384,687	C245G	probably damaging	Het
Cndp1	T	G	18: 84,611,625	Q481P	probably benign	Het
Col3a1	A	G	1: 45,327,601	R234G	unknown	Het
Col3a1	A	T	1: 45,347,724	N232I	probably damaging	Het
Colgalt2	A	T	1: 152,503,017	D398V	probably damaging	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,348,082		probably null	Het
Dcdc2a	C	A	13: 25,056,307	Q13K	probably benign	Het
Dzip3	A	T	16: 48,961,208	I240N	probably damaging	Het
Epb41l3	T	A	17: 69,259,180	L452*	probably null	Het
Fam193b	C	T	13: 55,541,705	A753T	probably damaging	Het
Fam35a	A	T	14: 34,268,491	S153T	possibly damaging	Het
Fam47e	G	C	5: 92,565,922		probably benign	Het
Fastkd1	A	G	2: 69,708,649		probably benign	Het
Fmnl1	G	A	11: 103,197,370	G69D	probably benign	Het
Foxn2	A	G	17: 88,473,666		probably benign	Het
Fsip2	A	G	2: 82,991,500	E5859G	possibly damaging	Het
Gm9894	T	A	13: 67,764,701		noncoding transcript	Het
H2-Bl	T	C	17: 36,081,091	N44S	possibly damaging	Het
Helz2	T	C	2: 181,229,815	Y2668C	probably damaging	Het
Hhipl1	T	A	12: 108,311,693	C93*	probably null	Het
Lig1	C	T	7: 13,292,153	A278V	probably benign	Het
Lipn	T	A	19: 34,071,758	I108K	probably benign	Het
Lsamp	A	G	16: 42,151,229		probably benign	Het
Map3k14	A	G	11: 103,238,917		probably benign	Het
Mdm4	A	T	1: 132,991,820	C436S	probably damaging	Het
Mdm4	A	G	1: 133,012,692	L33P	probably damaging	Het
Meiob	T	C	17: 24,836,484	W422R	probably damaging	Het
Mppe1	T	C	18: 67,227,706	Y254C	probably damaging	Het
Mterf1a	A	T	5: 3,890,964	N301K	probably benign	Het
Muc6	C	T	7: 141,644,233	S1210N	probably damaging	Het
Mycbp2	A	T	14: 103,200,152	Y2091*	probably null	Het
Mylk	G	A	16: 34,874,039	R156H	probably benign	Het
Myo15	G	T	11: 60,479,407	D998Y	probably benign	Het
Neb	A	T	2: 52,196,357	Y5235N	probably damaging	Het
Nop58	A	G	1: 59,704,211		probably benign	Het
Nr4a3	A	G	4: 48,051,564	H135R	probably damaging	Het
Nr4a3	A	G	4: 48,083,324	K619R	probably benign	Het
Nrg1	T	C	8: 31,837,667		probably benign	Het
Olfr1031	A	T	2: 85,992,696	N293I	probably damaging	Het
Olfr1312	A	T	2: 112,042,215	D272E	probably benign	Het
Olfr1484	T	C	19: 13,586,213	V260A	probably benign	Het
Olfr938	T	A	9: 39,078,229	D172V	possibly damaging	Het
Parp3	T	C	9: 106,476,005		probably benign	Het
Pde2a	A	G	7: 101,484,543	E103G	probably benign	Het
Pds5a	A	T	5: 65,635,302		probably benign	Het
Pip4k2c	A	G	10: 127,211,393	V40A	unknown	Het
Pitrm1	T	C	13: 6,552,744		probably benign	Het
Plk4	A	G	3: 40,801,847	I64M	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Ppp2r1a	T	C	17: 20,951,331		probably benign	Het
Ppp4r3b	T	A	11: 29,209,426	N172K	probably damaging	Het
Prkcg	G	A	7: 3,319,661	R357Q	probably damaging	Het
Prmt3	T	C	7: 49,848,547		probably null	Het
Prx	T	A	7: 27,518,007	C644*	probably null	Het
Ptpru	A	G	4: 131,808,527		probably benign	Het
Rbm5	A	T	9: 107,742,497	D738E	probably damaging	Het
Recql5	A	T	11: 115,897,234	Y420N	probably damaging	Het
Rnf17	T	C	14: 56,425,631	I152T	probably benign	Het
Rnpepl1	A	G	1: 92,919,195	S580G	possibly damaging	Het
Ryr3	C	T	2: 112,946,987	G275D	probably damaging	Het
Serpinb9e	T	A	13: 33,257,752	Y222*	probably null	Het
Slc10a1	T	A	12: 80,956,028	I279F	probably damaging	Het
Slc12a8	G	T	16: 33,662,977	G584V	probably damaging	Het
Slc35b3	T	A	13: 38,937,331	Y311F	probably benign	Het
Slc44a5	A	G	3: 154,257,720		probably null	Het
Slc6a9	A	G	4: 117,864,806	E422G	possibly damaging	Het
Smpd2	A	G	10: 41,488,732		probably null	Het
Spast	A	G	17: 74,381,968		probably null	Het
Spink5	A	T	18: 43,983,563	E208V	probably benign	Het
Stambp	A	G	6: 83,563,821		probably null	Het
Sult3a2	A	T	10: 33,777,192	M184K	possibly damaging	Het
Tcp11	T	C	17: 28,071,662	D162G	probably damaging	Het
Themis	A	C	10: 28,668,748	E30A	possibly damaging	Het
Tmc7	G	A	7: 118,551,260	S350L	probably benign	Het
Tmem131	A	T	1: 36,834,898	Y271*	probably null	Het
Trim35	T	A	14: 66,308,799	S338R	probably benign	Het
Trim42	C	A	9: 97,363,620	V376F	probably benign	Het
Tshr	A	T	12: 91,538,097	K11M	probably damaging	Het
Vps8	A	G	16: 21,459,820		probably benign	Het
Wdr11	T	C	7: 129,607,107		probably benign	Het
Wdr26	A	T	1: 181,181,294		probably benign	Het
Wdtc1	A	G	4: 133,297,546	Y447H	probably damaging	Het
Zfp687	C	T	3: 95,008,473	C996Y	probably damaging	Het
Zfp984	A	T	4: 147,755,989	V135E	probably benign	Het
Zranb2	T	C	3: 157,541,865		probably benign	Het

Other mutations in Stag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00649:Stag1	APN	9	100776808	missense	probably damaging	1.00
IGL01010:Stag1	APN	9	100945933	missense	probably benign	0.06
IGL01012:Stag1	APN	9	100855859	missense	possibly damaging	0.47
IGL01025:Stag1	APN	9	100951657	missense	possibly damaging	0.95
IGL01307:Stag1	APN	9	100951788	intron	probably benign
IGL02149:Stag1	APN	9	100887389	missense	probably benign	0.09
IGL02608:Stag1	APN	9	100757769	missense	probably null	0.99
IGL03008:Stag1	APN	9	100776791	missense	probably damaging	1.00
IGL03210:Stag1	APN	9	100845076	missense	possibly damaging	0.63
eto_o	UTSW	9	100796716	missense	probably damaging	1.00
PIT4280001:Stag1	UTSW	9	100942716	missense	possibly damaging	0.95
R0070:Stag1	UTSW	9	100956408	missense	probably null	1.00
R0070:Stag1	UTSW	9	100956408	missense	probably null	1.00
R0349:Stag1	UTSW	9	100776784	missense	probably damaging	0.98
R0479:Stag1	UTSW	9	100928091	missense	probably benign	0.00
R0531:Stag1	UTSW	9	100954247	makesense	probably null
R0962:Stag1	UTSW	9	100796827	missense	probably damaging	1.00
R0976:Stag1	UTSW	9	100776824	missense	probably damaging	0.98
R0976:Stag1	UTSW	9	100930016	critical splice donor site	probably null
R1499:Stag1	UTSW	9	100855832	missense	possibly damaging	0.77
R1499:Stag1	UTSW	9	100887373	intron	probably benign
R1644:Stag1	UTSW	9	100880900	intron	probably benign
R1747:Stag1	UTSW	9	100888300	missense	probably benign
R1799:Stag1	UTSW	9	100953462	splice site	probably null
R1807:Stag1	UTSW	9	100908666	missense	probably benign	0.34
R1978:Stag1	UTSW	9	100888086	missense	probably benign	0.03
R2029:Stag1	UTSW	9	100786687	missense	probably damaging	1.00
R2161:Stag1	UTSW	9	100889595	missense	probably damaging	1.00
R2300:Stag1	UTSW	9	100712500	missense	possibly damaging	0.92
R2327:Stag1	UTSW	9	100786613	missense	possibly damaging	0.81
R2426:Stag1	UTSW	9	100845116	critical splice donor site	probably null
R2448:Stag1	UTSW	9	100888409	missense	probably benign	0.42
R2504:Stag1	UTSW	9	100866210	missense	probably damaging	0.99
R3713:Stag1	UTSW	9	100889618	missense	probably benign	0.01
R3835:Stag1	UTSW	9	100737982	missense	probably damaging	0.97
R3862:Stag1	UTSW	9	100944785	missense	probably benign	0.02
R4398:Stag1	UTSW	9	100956606	utr 3 prime	probably benign
R4568:Stag1	UTSW	9	100848669	missense	probably damaging	1.00
R4651:Stag1	UTSW	9	100796716	missense	probably damaging	1.00
R4652:Stag1	UTSW	9	100796716	missense	probably damaging	1.00
R4653:Stag1	UTSW	9	100796716	missense	probably damaging	1.00
R4675:Stag1	UTSW	9	100848705	missense	probably damaging	1.00
R4709:Stag1	UTSW	9	100738039	missense	probably damaging	0.99
R4924:Stag1	UTSW	9	100796755	missense	possibly damaging	0.67
R5018:Stag1	UTSW	9	100951619	missense	probably benign	0.00
R5435:Stag1	UTSW	9	100953550	missense	probably benign	0.03
R5460:Stag1	UTSW	9	100956453	splice site	probably null
R5805:Stag1	UTSW	9	100796778	missense	probably damaging	1.00
R6127:Stag1	UTSW	9	100951697	missense	probably benign	0.05
R6313:Stag1	UTSW	9	100757733	missense	probably damaging	1.00
R6597:Stag1	UTSW	9	100887420	missense	probably benign	0.01
R6807:Stag1	UTSW	9	100944850	missense	probably damaging	1.00
R7099:Stag1	UTSW	9	100944826	missense	probably benign	0.02
R7167:Stag1	UTSW	9	100945889	missense	probably benign	0.05
R7395:Stag1	UTSW	9	100796728	missense	probably damaging	0.99
R7504:Stag1	UTSW	9	100888328	missense	probably benign	0.09
R7663:Stag1	UTSW	9	100738138	missense	probably damaging	0.98
R7769:Stag1	UTSW	9	100944827	missense	possibly damaging	0.86
R8245:Stag1	UTSW	9	100929893	missense	probably benign	0.01
R8343:Stag1	UTSW	9	100757766	missense	possibly damaging	0.95

Predicted Primers

Posted On

2014-01-15