Mutagenetix > Incidental Mutations

Incidental Mutation 'R0531:Stag1'

49170

Institutional Source

Beutler Lab

Gene Symbol

Stag1

Ensembl Gene

ENSMUSG00000037286

Gene Name

stromal antigen 1

Synonyms

Scc3, SA-1

MMRRC Submission

038723-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0531 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100597798-100959375 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 100954247 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 175 (*175W)

Ref Sequence

ENSEMBL: ENSMUSP00000118952 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000041418
AA Change: E1158G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040724
Gene: ENSMUSG00000037286
AA Change: E1158G

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: E1195G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116205
Gene: ENSMUSG00000037286
AA Change: E1195G

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

unknown
Transcript: ENSMUST00000146934
AA Change: E805G

SMART Domains

Protein: ENSMUSP00000120974
Gene: ENSMUSG00000037286
AA Change: E805G

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 null
Transcript: ENSMUST00000155108
AA Change: *175W

SMART Domains

Protein: ENSMUSP00000118952
Gene: ENSMUSG00000037286
AA Change: *175W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191345

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (69/69)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,915,146	N130D	probably benign	Het
4932438A13Rik	T	A	3: 37,036,825	I743N	probably damaging	Het
Acot6	C	A	12: 84,101,301	D110E	probably benign	Het
Agrn	T	A	4: 156,179,434	N124I	probably benign	Het
Astn1	G	T	1: 158,600,389	G710V	probably damaging	Het
Bcar3	T	C	3: 122,426,499	V15A	probably benign	Het
Best3	T	C	10: 117,004,375		probably benign	Het
Cenpa	T	C	5: 30,672,493	F39L	possibly damaging	Het
Cfap44	A	T	16: 44,401,426	M1L	probably benign	Het
Chrnd	A	G	1: 87,194,819	I107M	probably damaging	Het
Col11a2	A	G	17: 34,058,377		probably benign	Het
Dnah10	G	A	5: 124,812,723		probably null	Het
Entpd8	A	G	2: 25,084,769	Y404C	probably damaging	Het
Fam118a	T	C	15: 85,048,432	I125T	possibly damaging	Het
Fam129a	T	C	1: 151,718,084	V840A	probably benign	Het
Fam161a	G	A	11: 23,020,298	E159K	possibly damaging	Het
Fkbp5	A	T	17: 28,438,029	H71Q	probably benign	Het
Frem2	A	T	3: 53,519,954	Y2926N	probably damaging	Het
Gap43	A	T	16: 42,292,328	D23E	probably damaging	Het
Glt8d1	T	C	14: 31,006,504	F3S	probably benign	Het
Gm11555	C	T	11: 99,650,018		probably benign	Het
Gtpbp1	G	A	15: 79,720,091	G667S	probably damaging	Het
H2-T24	A	C	17: 36,015,571	S145R	probably benign	Het
Inpp5b	A	T	4: 124,795,456	N843I	probably damaging	Het
Jak3	C	T	8: 71,686,976		probably benign	Het
Krt8	T	A	15: 102,001,448	M174L	probably benign	Het
Ktn1	C	T	14: 47,663,941	T52I	probably damaging	Het
Lrp4	T	C	2: 91,475,178		probably benign	Het
Nefh	G	A	11: 4,940,240	A793V	probably damaging	Het
Notch1	A	G	2: 26,466,572	S1678P	probably benign	Het
Notch2	C	T	3: 98,102,451		probably benign	Het
Nrxn3	T	C	12: 88,795,342	F53S	probably damaging	Het
Olfr1346	A	T	7: 6,474,235	I42F	possibly damaging	Het
Olfr146	G	T	9: 39,019,176	R122S	probably damaging	Het
Olfr1504	C	T	19: 13,887,752	V153I	possibly damaging	Het
Olfr209	T	A	16: 59,361,808	N137Y	probably damaging	Het
Olfr324	A	G	11: 58,597,848	I151V	probably benign	Het
Olfr961	A	G	9: 39,646,872	T49A	probably benign	Het
Pak4	T	A	7: 28,568,054	I62F	possibly damaging	Het
Pcdhb12	T	A	18: 37,437,318	F506I	probably damaging	Het
Per1	A	T	11: 69,104,190	D632V	probably damaging	Het
Plec	A	G	15: 76,177,298	M2678T	probably benign	Het
Plg	A	G	17: 12,411,447		probably benign	Het
Prmt1	A	T	7: 44,977,624	S304R	probably damaging	Het
Prr27	T	C	5: 87,842,678	F50L	probably benign	Het
Prune2	T	C	19: 17,006,753	L159P	probably damaging	Het
Ptpn12	A	T	5: 20,998,483	N432K	possibly damaging	Het
Rfwd3	A	G	8: 111,293,989		probably null	Het
Rims2	A	T	15: 39,567,030	D1170V	probably damaging	Het
Sag	T	C	1: 87,834,629		probably null	Het
Sall4	C	T	2: 168,756,336	A195T	probably benign	Het
Sbf2	G	A	7: 110,367,323		probably benign	Het
Scaper	A	T	9: 55,609,874	D599E	possibly damaging	Het
Sema7a	G	A	9: 57,960,593	S484N	possibly damaging	Het
Senp1	A	G	15: 98,064,880		probably benign	Het
Senp6	A	G	9: 80,123,884	T623A	probably damaging	Het
Siae	A	G	9: 37,627,794	D95G	probably benign	Het
Slc26a2	T	C	18: 61,198,379	D660G	probably damaging	Het
Slc3a1	T	C	17: 85,028,649	F73S	possibly damaging	Het
Slfn5	A	T	11: 82,961,040	Q664L	probably damaging	Het
Spire1	T	C	18: 67,491,305	I512V	probably damaging	Het
Srpr	A	G	9: 35,213,501	T133A	probably benign	Het
Stk32c	C	A	7: 139,120,720	V316F	probably damaging	Het
Tekt1	A	C	11: 72,345,594	N347K	possibly damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tnpo2	T	A	8: 85,050,157	C498S	probably damaging	Het
Tra2b	G	A	16: 22,247,205	R281*	probably null	Het
Ubr5	A	T	15: 37,991,344	I1985N	probably benign	Het
Ush2a	T	G	1: 188,443,181	S1159A	probably benign	Het
Vmn1r15	C	T	6: 57,258,251	P35S	probably benign	Het
Vmn1r6	A	T	6: 57,002,598	I60L	probably benign	Het
Vps8	A	G	16: 21,459,811		probably benign	Het
Xkr7	T	C	2: 153,032,352	V113A	possibly 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
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
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

PCR Primer
(F):5'- CAGCCACGCTCTAAATACCTGTCTC -3'
(R):5'- GAATGGTCACCACTTCTCACCTGG -3'

Sequencing Primer
(F):5'- tcaggaggcagaggcag -3'
(R):5'- CCTGGGCCTCTCTATAGTAAGAATAC -3'

Posted On

2013-06-12