Mutagenetix > Incidental Mutation

Incidental Mutation 'R1585:Sae1'

177431

Institutional Source

Beutler Lab

Gene Symbol

Sae1

Ensembl Gene

ENSMUSG00000052833

Gene Name

SUMO1 activating enzyme subunit 1

Synonyms

HSPC140, D7Ertd177e, Uble1a, 2610044L12Rik, AOS1, 2400010M20Rik, SUMO-1 activating enzyme subunit 1

MMRRC Submission

039622-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R1585 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16320234-16387806 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 16330612 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094815] [ENSMUST00000210999] [ENSMUST00000211741]

AlphaFold

Q9R1T2

Predicted Effect

probably null
Transcript: ENSMUST00000094815

SMART Domains

Protein: ENSMUSP00000092409
Gene: ENSMUSG00000052833

Domain	Start	End	E-Value	Type
low complexity region	3	21	N/A	INTRINSIC
Pfam:ThiF	23	344	4.3e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209749

Predicted Effect

probably null
Transcript: ENSMUST00000210999

Predicted Effect

probably null
Transcript: ENSMUST00000211741

Meta Mutation Damage Score

0.9595

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 91.2%

Validation Efficiency

95% (81/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	G	A	8: 45,956,478	S268L	probably benign	Het
2310057J18Rik	T	A	10: 28,982,522	I50F	possibly damaging	Het
4930505A04Rik	T	C	11: 30,427,175		probably benign	Het
Aadat	A	T	8: 60,526,680	D192V	possibly damaging	Het
Akap12	A	G	10: 4,353,640	D150G	probably benign	Het
Amigo3	A	T	9: 108,054,032	N218I	probably damaging	Het
Ankmy1	A	G	1: 92,899,651	S60P	probably benign	Het
Apol7e	G	A	15: 77,717,829	S209N	probably damaging	Het
AW551984	A	T	9: 39,599,336	Y234*	probably null	Het
Bcam	A	T	7: 19,760,186	D393E	probably damaging	Het
Card9	A	G	2: 26,354,386	L444P	probably benign	Het
Ccar1	T	C	10: 62,751,001	E886G	unknown	Het
Ccnb2	A	T	9: 70,410,277		probably null	Het
Cd276	T	C	9: 58,535,555	S206G	probably damaging	Het
Cds1	T	A	5: 101,817,962		probably benign	Het
Chuk	T	C	19: 44,077,373	S661G	possibly damaging	Het
Col17a1	T	C	19: 47,650,837	N1090D	probably benign	Het
Col3a1	A	T	1: 45,327,866		probably null	Het
Crispld1	G	T	1: 17,750,800	V355F	possibly damaging	Het
Cspg4	A	T	9: 56,898,867	R2321W	probably damaging	Het
Dner	T	C	1: 84,585,456	T61A	probably benign	Het
Dnmt3a	A	T	12: 3,901,660	Y679F	probably damaging	Het
Dzip3	A	T	16: 48,977,878		probably benign	Het
Eif3l	T	C	15: 79,084,181	S217P	possibly damaging	Het
Fbxo42	T	A	4: 141,198,106		probably benign	Het
Fhod1	A	T	8: 105,337,325		probably benign	Het
Fzd1	T	A	5: 4,756,278	I435F	probably damaging	Het
Gapvd1	C	T	2: 34,712,195	V647I	possibly damaging	Het
Gm14496	T	C	2: 181,996,209	S359P	possibly damaging	Het
Gm5218	C	A	15: 81,499,540		noncoding transcript	Het
Hnrnph3	A	G	10: 63,015,800		probably null	Het
Hsd17b12	G	T	2: 94,033,976	T262K	probably damaging	Het
Igsf10	G	C	3: 59,330,417	P781R	probably damaging	Het
Il11ra1	T	A	4: 41,768,207	S373T	probably damaging	Het
Kdm3b	A	G	18: 34,809,292	D612G	probably damaging	Het
Ldb1	T	C	19: 46,034,464	T261A	probably damaging	Het
Lep	C	A	6: 29,069,090	H47N	possibly damaging	Het
Lrrtm2	A	T	18: 35,213,375	S291R	possibly damaging	Het
Ncor2	T	C	5: 125,084,998	Q404R	unknown	Het
Nlrp4d	T	C	7: 10,382,510	H148R	probably benign	Het
Nlrp9a	T	A	7: 26,558,668	D570E	probably benign	Het
Nphp3	G	A	9: 104,009,214	V202I	probably damaging	Het
Nptn	T	A	9: 58,640,790	N159K	probably benign	Het
Olfr1241	T	A	2: 89,482,971	T55S	probably benign	Het
Olfr1245	A	T	2: 89,575,402	V108D	possibly damaging	Het
Olfr568	G	A	7: 102,877,773	V218I	probably benign	Het
Olfr628	A	T	7: 103,732,378	T151S	possibly damaging	Het
Olfr920	A	T	9: 38,756,420	H244L	probably damaging	Het
Pcolce	T	A	5: 137,610,507	R13*	probably null	Het
Pdgfra	A	G	5: 75,192,603	Y1018C	probably damaging	Het
Prima1	A	G	12: 103,235,595	S74P	probably damaging	Het
Prl7c1	A	G	13: 27,778,855	L55P	probably damaging	Het
Rasef	A	G	4: 73,740,337	V513A	probably damaging	Het
Rgs1	T	C	1: 144,245,489		probably null	Het
Rlf	T	C	4: 121,148,291	E1164G	probably benign	Het
Rnf213	A	T	11: 119,463,345	N4016I	probably damaging	Het
Serping1	A	T	2: 84,771,504	D207E	probably benign	Het
Setd2	T	A	9: 110,551,396	D33E	unknown	Het
Simc1	T	C	13: 54,525,258	M473T	probably benign	Het
Slc30a6	T	A	17: 74,418,615		probably benign	Het
Slc4a5	T	C	6: 83,265,687	L346P	probably damaging	Het
Spef2	T	A	15: 9,596,574	Q1473L	probably damaging	Het
St3gal3	G	T	4: 117,960,007	A44D	possibly damaging	Het
Sv2b	G	T	7: 75,147,677	T323K	probably damaging	Het
Sycp2	T	A	2: 178,351,668	N1228I	possibly damaging	Het
Thbs2	T	A	17: 14,689,768	M190L	probably benign	Het
Tnrc6a	G	A	7: 123,176,875	V1190I	probably benign	Het
Utrn	A	T	10: 12,436,285	I673K	possibly damaging	Het
Vmn2r114	C	T	17: 23,291,701	V602M	probably damaging	Het
Wdr7	A	T	18: 63,924,918	I1273L	probably benign	Het
Zfp618	T	C	4: 63,132,938	L652P	probably damaging	Het
Zfp804a	G	A	2: 82,053,751		probably benign	Het

Other mutations in Sae1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02206:Sae1	APN	7	16330656	missense	possibly damaging	0.94
IGL02672:Sae1	APN	7	16370348	missense	probably damaging	1.00
IGL02881:Sae1	APN	7	16359118	missense	probably damaging	1.00
R0255:Sae1	UTSW	7	16370322	nonsense	probably null
R0667:Sae1	UTSW	7	16368532	missense	probably damaging	1.00
R1374:Sae1	UTSW	7	16378408	missense	probably damaging	0.97
R1960:Sae1	UTSW	7	16368565	missense	possibly damaging	0.90
R2278:Sae1	UTSW	7	16370366	missense	probably damaging	1.00
R5513:Sae1	UTSW	7	16366856	missense	probably benign	0.00
R5677:Sae1	UTSW	7	16370462	critical splice acceptor site	probably null
R6694:Sae1	UTSW	7	16368536	missense	probably damaging	1.00
R6975:Sae1	UTSW	7	16336787	missense	probably damaging	0.99
R7307:Sae1	UTSW	7	16368544	nonsense	probably null
R7914:Sae1	UTSW	7	16387723	missense	unknown
R8437:Sae1	UTSW	7	16370354	missense	probably damaging	1.00
R9076:Sae1	UTSW	7	16336743	missense	probably benign
Z1177:Sae1	UTSW	7	16327871	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAAACCTGCTCACACGACTG -3'
(R):5'- AGGTCTTCCCCACCCACTTAAGAG -3'

Sequencing Primer
(F):5'- TGCTCACACGACTGGTAGAG -3'
(R):5'- TGGATACCAGCTCTAGCACTG -3'

Posted On

2014-04-24