Mutagenetix > Incidental Mutations

Incidental Mutation 'R1499:Stag1'

168704

Institutional Source

Beutler Lab

Gene Symbol

Stag1

Ensembl Gene

ENSMUSG00000037286

Gene Name

stromal antigen 1

Synonyms

Scc3, SA-1

MMRRC Submission

039550-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100597798-100959375 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 100887373 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: 93.4%

Validation Efficiency

99% (83/84)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	T	6: 40,921,718	S199T	probably benign	Het
Abca9	T	A	11: 110,139,632	Y763F	probably benign	Het
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Actl11	A	G	9: 107,931,483	T1002A	probably damaging	Het
Ampd1	T	A	3: 103,091,664	N378K	probably damaging	Het
Arhgap42	A	G	9: 9,033,586		probably benign	Het
Arhgap6	C	A	X: 168,796,503	P95T	possibly damaging	Het
Atg14	T	C	14: 47,560,645	N87S	probably benign	Het
Atp9b	C	T	18: 80,762,138	C735Y	probably damaging	Het
Atp9b	T	A	18: 80,778,907	T110S	probably benign	Het
Birc6	T	G	17: 74,612,319	L221R	probably damaging	Het
Ces1c	A	G	8: 93,127,605	F101L	probably benign	Het
Chsy1	T	C	7: 66,172,002	Y662H	probably damaging	Het
Cldn12	A	T	5: 5,507,900	F176I	probably benign	Het
Col5a2	A	G	1: 45,411,466	S374P	probably benign	Het
Col6a2	A	T	10: 76,603,710	V740E	probably damaging	Het
Cpne3	A	T	4: 19,526,336	I401K	probably damaging	Het
Cspp1	T	A	1: 10,088,966		probably null	Het
Ddn	G	A	15: 98,806,766	T215I	possibly damaging	Het
Dync1i1	T	C	6: 5,769,799		probably benign	Het
Dync2li1	T	C	17: 84,647,239		probably benign	Het
Eif2a	T	A	3: 58,537,584	L50*	probably null	Het
Elavl3	G	A	9: 22,018,579	A343V	probably damaging	Het
Fastkd1	T	C	2: 69,708,638		probably null	Het
Fgf8	C	A	19: 45,742,347	V80F	possibly damaging	Het
Fras1	A	T	5: 96,743,187	E2858D	probably benign	Het
Fshr	A	T	17: 88,986,101	L383Q	probably damaging	Het
Glb1	A	G	9: 114,417,103	K74R	probably benign	Het
Gmeb2	T	G	2: 181,255,226	M290L	probably benign	Het
Gnptg	A	G	17: 25,235,854		probably null	Het
Grik2	A	C	10: 49,132,775	S739A	probably damaging	Het
Grk2	T	A	19: 4,287,194	Q659L	probably benign	Het
Hdhd5	A	G	6: 120,514,512	V210A	probably damaging	Het
Hyal1	C	T	9: 107,577,892	L134F	probably damaging	Het
Itgb2	A	T	10: 77,546,153	K18N	possibly damaging	Het
Jam3	A	T	9: 27,106,405	I29K	possibly damaging	Het
Kcnh3	C	A	15: 99,239,915	D830E	probably benign	Het
Kcnmb4	T	C	10: 116,473,298	D75G	possibly damaging	Het
Kdm4b	A	G	17: 56,400,025	Y981C	probably damaging	Het
Klk1b26	C	A	7: 44,016,386	D207E	probably benign	Het
Kmt2a	G	T	9: 44,848,266	T762N	probably benign	Het
Kmt2d	A	G	15: 98,844,938		probably benign	Het
Lama4	T	C	10: 39,088,880	S1414P	possibly damaging	Het
Lce1f	C	G	3: 92,718,969	C127S	unknown	Het
Maats1	A	G	16: 38,321,400	V390A	probably damaging	Het
Map7d1	A	G	4: 126,234,765		probably null	Het
Ninl	T	C	2: 150,980,176	D2G	possibly damaging	Het
Olfr1029	C	T	2: 85,976,028	P262S	possibly damaging	Het
Olfr1369-ps1	T	A	13: 21,116,133	M147K	probably benign	Het
Olfr1537	G	C	9: 39,238,251	P58A	probably benign	Het
Olfr195	A	G	16: 59,148,924	T25A	probably benign	Het
Olfr429	T	A	1: 174,089,247	L69*	probably null	Het
Pax8	A	G	2: 24,429,596	Y381H	possibly damaging	Het
Pde7a	T	C	3: 19,260,244	I63V	possibly damaging	Het
Pgm3	A	T	9: 86,570,287	F40Y	probably benign	Het
Phrf1	G	T	7: 141,256,651	D78Y	probably damaging	Het
Plekhg1	C	T	10: 3,940,538		probably benign	Het
Pum1	T	C	4: 130,719,256	S209P	probably damaging	Het
Qtrt2	A	T	16: 43,868,974	F220L	probably benign	Het
Rgs9	A	G	11: 109,268,921		probably null	Het
Rin3	A	G	12: 102,368,759	T230A	unknown	Het
Ros1	A	T	10: 52,098,677	V1604E	possibly damaging	Het
Rpp14	A	G	14: 8,090,528	M151V	probably benign	Het
Sacs	T	A	14: 61,213,704	F4400I	possibly damaging	Het
Scamp1	C	T	13: 94,224,929	V148I	probably benign	Het
Slc13a5	A	G	11: 72,250,731	C428R	probably damaging	Het
Slc43a2	T	G	11: 75,562,907		probably null	Het
Smarcc2	T	A	10: 128,463,872	N135K	probably damaging	Het
Snx15	G	C	19: 6,122,064	S116R	probably damaging	Het
Tmem106a	T	A	11: 101,590,437	L257Q	possibly damaging	Het
Tnc	C	T	4: 63,964,754	D1968N	probably benign	Het
Trim42	A	G	9: 97,366,085	L186P	possibly damaging	Het
Tshb	T	A	3: 102,778,308		probably benign	Het
Ttn	T	A	2: 76,754,140	D13881V	probably damaging	Het
Uqcrc2	T	C	7: 120,640,283	V56A	probably benign	Het
Uty	G	A	Y: 1,197,228	T113I	probably damaging	Het
Vps13c	A	G	9: 67,957,505	E3032G	probably benign	Het
Wfdc9	T	G	2: 164,651,809		probably benign	Het
Zc3h7a	G	A	16: 11,162,656	T31I	probably damaging	Het
Zfp462	T	C	4: 55,060,046	S1191P	probably damaging	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
R1170:Stag1	UTSW	9	100888453	intron	probably benign
R1499:Stag1	UTSW	9	100855832	missense	possibly damaging	0.77
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
R8473:Stag1	UTSW	9	100880787	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTATTCTagcaagttctaagacaaccagg -3'
(R):5'- GCATGAAAGCAAACTCAAGGACATATTATCAC -3'

Sequencing Primer
(F):5'- accagggctattcagagaaac -3'
(R):5'- CATTGGCAGATGACATACCAAG -3'

Posted On

2014-04-13