Mutagenetix > Incidental Mutations

Incidental Mutation 'R2504:Stag1'

252179

Institutional Source

Beutler Lab

Gene Symbol

Stag1

Ensembl Gene

ENSMUSG00000037286

Gene Name

stromal antigen 1

Synonyms

Scc3, SA-1

MMRRC Submission

040412-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2504 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100597798-100959375 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100866210 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 475 (S475I)

Ref Sequence

ENSEMBL: ENSMUSP00000040724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041418] [ENSMUST00000123302] [ENSMUST00000129269] [ENSMUST00000138405] [ENSMUST00000155108]

AlphaFold

Q9D3E6

Predicted Effect

probably damaging
Transcript: ENSMUST00000041418
AA Change: S475I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040724
Gene: ENSMUSG00000037286
AA Change: S475I

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 damaging
Transcript: ENSMUST00000129269
AA Change: S475I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116205
Gene: ENSMUSG00000037286
AA Change: S475I

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: ENSMUST00000138405

SMART Domains

Protein: ENSMUSP00000116322
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-51	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000146934
AA Change: S85I

SMART Domains

Protein: ENSMUSP00000120974
Gene: ENSMUSG00000037286
AA Change: S85I

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,219,216	E1750K	probably damaging	Het
4933425L06Rik	A	G	13: 105,109,742	I270M	probably benign	Het
Aatk	T	C	11: 120,018,855	D28G	probably benign	Het
Abcg1	T	A	17: 31,092,395	S125T	probably damaging	Het
Actbl2	T	C	13: 111,256,183	S351P	possibly damaging	Het
Ankrd34b	A	G	13: 92,439,061		probably null	Het
BC030867	T	C	11: 102,255,296	Y133H	possibly damaging	Het
BC051665	C	T	13: 60,782,654	V295I	probably benign	Het
C1qtnf2	A	G	11: 43,491,156	N265S	probably damaging	Het
Ccdc14	C	T	16: 34,721,850	R573*	probably null	Het
Cd55b	A	T	1: 130,409,875	Y247N	probably damaging	Het
Celsr2	A	T	3: 108,413,591	V635E	probably benign	Het
Clec16a	T	C	16: 10,559,687		probably benign	Het
Clec4b1	A	G	6: 123,065,945	Y41C	probably damaging	Het
Cntn5	A	T	9: 10,172,121	D19E	probably benign	Het
Cop1	A	G	1: 159,232,805	N53S	probably damaging	Het
Csad	A	T	15: 102,188,667	M1K	probably null	Het
Cyb5rl	A	G	4: 107,080,945	I200V	probably benign	Het
Cyp26a1	A	G	19: 37,698,342	T81A	probably damaging	Het
Cyp2d12	A	T	15: 82,559,036	H433L	probably benign	Het
D7Ertd443e	T	A	7: 134,349,479		probably null	Het
Dennd1b	A	G	1: 139,170,170		probably benign	Het
Dmap1	G	T	4: 117,675,298	T357K	probably damaging	Het
Dzip1	G	T	14: 118,881,044	T759K	probably benign	Het
Elmo2	A	G	2: 165,298,687	V300A	probably damaging	Het
Eml5	T	C	12: 98,844,105	D864G	possibly damaging	Het
Ep400	A	G	5: 110,668,645	V2670A	probably damaging	Het
Epha3	T	A	16: 63,603,625	I534F	probably damaging	Het
Epha4	A	C	1: 77,382,991	Y742D	probably damaging	Het
Ergic2	A	G	6: 148,204,774		probably null	Het
Ero1l	A	T	14: 45,299,088		probably null	Het
Fam229a	A	G	4: 129,491,486	D70G	probably damaging	Het
Fbn2	C	T	18: 58,093,359	R781Q	probably damaging	Het
Fbxo16	A	T	14: 65,270,714		probably benign	Het
Fbxo39	T	A	11: 72,317,285	S154R	probably benign	Het
Fer	T	A	17: 63,991,580		probably null	Het
Filip1l	A	G	16: 57,570,662	I538V	possibly damaging	Het
Filip1l	A	T	16: 57,571,047	D428V	probably damaging	Het
Fsip2	T	C	2: 82,979,610	I2091T	possibly damaging	Het
Glyat	A	C	19: 12,651,398	T186P	possibly damaging	Het
Gm10604	A	G	4: 11,980,083	S74P	unknown	Het
Gm4787	T	G	12: 81,379,137	K82N	possibly damaging	Het
Hectd4	T	C	5: 121,220,620	I50T	unknown	Het
Hectd4	T	C	5: 121,263,967	S373P	possibly damaging	Het
Hmcn1	A	T	1: 150,686,867	C2313*	probably null	Het
Igfn1	A	T	1: 135,969,316	S1171T	probably benign	Het
Ints8	T	C	4: 11,241,642	D267G	probably benign	Het
Itln1	A	G	1: 171,529,159	C251R	probably damaging	Het
Jcad	C	T	18: 4,674,026	T596M	probably damaging	Het
Kcnj16	C	T	11: 111,025,583	T357M	probably benign	Het
Kif13a	G	A	13: 46,814,200	T346M	probably damaging	Het
Klhl24	G	A	16: 20,120,167	A491T	probably benign	Het
Kntc1	C	T	5: 123,778,347	Q748*	probably null	Het
Krt25	T	A	11: 99,317,296	K369*	probably null	Het
Krt75	C	T	15: 101,568,031	R433Q	probably benign	Het
Krt76	A	G	15: 101,884,858	F582L	unknown	Het
Lysmd1	G	A	3: 95,138,397	V182I	probably benign	Het
Mab21l2	T	A	3: 86,547,555	E46V	probably damaging	Het
Magi2	A	T	5: 20,358,936	K355N	probably damaging	Het
March10	T	C	11: 105,385,572	D630G	probably damaging	Het
Mast4	A	T	13: 102,738,639	I1215N	probably damaging	Het
Nckap1	G	A	2: 80,530,218	T523I	probably benign	Het
Nexmif	T	A	X: 104,084,393	D1306V	probably damaging	Het
Nfkb1	A	C	3: 135,589,329	I918R	possibly damaging	Het
Nup50	A	T	15: 84,933,658	T93S	probably benign	Het
Nwd2	T	C	5: 63,804,374	Y434H	probably benign	Het
Olfr61	T	C	7: 140,638,484	V261A	probably benign	Het
Osbpl1a	C	A	18: 12,905,031	V288L	probably benign	Het
Pan3	A	G	5: 147,527,036	E562G	possibly damaging	Het
Pappa	T	A	4: 65,180,889	Y548*	probably null	Het
Phf3	A	T	1: 30,810,789	L1181Q	probably damaging	Het
Phip	T	C	9: 82,915,339	H537R	possibly damaging	Het
Pkhd1l1	T	C	15: 44,485,428	I240T	probably damaging	Het
Pole	G	A	5: 110,290,502		probably null	Het
Polq	T	A	16: 37,011,942	S15T	unknown	Het
Prrt2	T	C	7: 127,020,224	E23G	possibly damaging	Het
Prss37	A	T	6: 40,517,826		probably null	Het
Prune2	T	C	19: 17,000,036	L45P	probably damaging	Het
Psd	A	T	19: 46,324,913	M6K	possibly damaging	Het
Psmd1	A	G	1: 86,089,997	E510G	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Pxdn	T	A	12: 30,003,406	I1194N	probably damaging	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rgmb	C	A	17: 15,807,647	R270L	probably benign	Het
Rpgrip1l	A	G	8: 91,280,716		probably null	Het
Rps2	G	A	17: 24,720,379		probably benign	Het
Rsbn1l	G	T	5: 20,902,366	A550E	probably damaging	Het
S1pr4	C	T	10: 81,499,304	R112H	probably benign	Het
Scfd2	T	C	5: 74,531,177	N148S	probably damaging	Het
Scin	C	T	12: 40,081,706	M276I	probably benign	Het
Sec24d	T	C	3: 123,353,606	I708T	possibly damaging	Het
Skint11	T	A	4: 114,228,812	F41I	possibly damaging	Het
Slc15a4	A	T	5: 127,617,239	F44Y	possibly damaging	Het
Slc6a18	A	G	13: 73,675,806	Y72H	probably benign	Het
Slc7a11	A	T	3: 50,377,746		probably null	Het
Slc7a14	G	T	3: 31,237,501	N209K	possibly damaging	Het
Sstr2	T	C	11: 113,624,431	C59R	probably damaging	Het
Stab1	A	G	14: 31,163,040		probably null	Het
Stxbp5l	A	G	16: 37,115,667	Y1183H	probably damaging	Het
Svep1	A	T	4: 58,135,628		probably null	Het
Tm9sf2	A	G	14: 122,158,684	T653A	probably benign	Het
Tmeff1	T	C	4: 48,662,059	S366P	possibly damaging	Het
Tnnt2	G	T	1: 135,852,065	W300L	probably damaging	Het
Traj32	A	G	14: 54,186,103		probably benign	Het
Trp53bp2	A	T	1: 182,441,639	M223L	probably benign	Het
Tsga10	G	A	1: 37,815,677	T246M	probably damaging	Het
Txn2	A	T	15: 77,926,670		probably benign	Het
Ubr3	T	A	2: 69,938,198	F450I	probably damaging	Het
Usp47	T	C	7: 112,104,470		probably null	Het
Vars2	C	T	17: 35,664,793	R244Q	probably damaging	Het
Xrra1	T	A	7: 99,897,596	F251L	probably damaging	Het
Zfp804a	G	A	2: 82,257,519	R564Q	probably benign	Het
Zfp983	T	C	17: 21,658,967	C29R	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
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
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
R8709:Stag1	UTSW	9	100890922	intron	probably benign
R8925:Stag1	UTSW	9	100705245	missense	possibly damaging	0.46
R8927:Stag1	UTSW	9	100705245	missense	possibly damaging	0.46
R8951:Stag1	UTSW	9	100880801	missense	probably damaging	1.00
R9138:Stag1	UTSW	9	100947282	missense	probably benign	0.01
R9233:Stag1	UTSW	9	100929971	missense	probably benign	0.00
R9246:Stag1	UTSW	9	100888276	missense	probably benign	0.00
R9419:Stag1	UTSW	9	100929914	missense	probably benign
R9442:Stag1	UTSW	9	100954253	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCTCATGTTGAACTGTGTAAGA -3'
(R):5'- GCATGTAAAACTGGCATTCTATAAACA -3'

Sequencing Primer
(F):5'- TAGCATGTGACTGAAAGCTCAAC -3'
(R):5'- GGAAAAGGCTTGTTTTCCTAT -3'

Posted On

2014-12-04