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

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

MMRRC Submission

039622-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R1585 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16054159-16121731 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 16064537 bp (GRCm39)

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
2310057J18Rik	T	A	10: 28,858,518 (GRCm39)	I50F	possibly damaging	Het
4930505A04Rik	T	C	11: 30,377,175 (GRCm39)		probably benign	Het
Aadat	A	T	8: 60,979,714 (GRCm39)	D192V	possibly damaging	Het
Akap12	A	G	10: 4,303,640 (GRCm39)	D150G	probably benign	Het
Amigo3	A	T	9: 107,931,231 (GRCm39)	N218I	probably damaging	Het
Ankmy1	A	G	1: 92,827,373 (GRCm39)	S60P	probably benign	Het
Apol7e	G	A	15: 77,602,029 (GRCm39)	S209N	probably damaging	Het
AW551984	A	T	9: 39,510,632 (GRCm39)	Y234*	probably null	Het
Bcam	A	T	7: 19,494,111 (GRCm39)	D393E	probably damaging	Het
Card9	A	G	2: 26,244,398 (GRCm39)	L444P	probably benign	Het
Ccar1	T	C	10: 62,586,780 (GRCm39)	E886G	unknown	Het
Ccnb2	A	T	9: 70,317,559 (GRCm39)		probably null	Het
Cd276	T	C	9: 58,442,838 (GRCm39)	S206G	probably damaging	Het
Cds1	T	A	5: 101,965,828 (GRCm39)		probably benign	Het
Cfap96	G	A	8: 46,409,515 (GRCm39)	S268L	probably benign	Het
Chuk	T	C	19: 44,065,812 (GRCm39)	S661G	possibly damaging	Het
Col17a1	T	C	19: 47,639,276 (GRCm39)	N1090D	probably benign	Het
Col3a1	A	T	1: 45,367,026 (GRCm39)		probably null	Het
Crispld1	G	T	1: 17,821,024 (GRCm39)	V355F	possibly damaging	Het
Cspg4	A	T	9: 56,806,151 (GRCm39)	R2321W	probably damaging	Het
Dner	T	C	1: 84,563,177 (GRCm39)	T61A	probably benign	Het
Dnmt3a	A	T	12: 3,951,660 (GRCm39)	Y679F	probably damaging	Het
Dzip3	A	T	16: 48,798,241 (GRCm39)		probably benign	Het
Eif3l	T	C	15: 78,968,381 (GRCm39)	S217P	possibly damaging	Het
Fbxo42	T	A	4: 140,925,417 (GRCm39)		probably benign	Het
Fhod1	A	T	8: 106,063,957 (GRCm39)		probably benign	Het
Fzd1	T	A	5: 4,806,278 (GRCm39)	I435F	probably damaging	Het
Gapvd1	C	T	2: 34,602,207 (GRCm39)	V647I	possibly damaging	Het
Gm14496	T	C	2: 181,638,002 (GRCm39)	S359P	possibly damaging	Het
Gm5218	C	A	15: 81,383,741 (GRCm39)		noncoding transcript	Het
Hnrnph3	A	G	10: 62,851,579 (GRCm39)		probably null	Het
Hsd17b12	G	T	2: 93,864,321 (GRCm39)	T262K	probably damaging	Het
Igsf10	G	C	3: 59,237,838 (GRCm39)	P781R	probably damaging	Het
Il11ra1	T	A	4: 41,768,207 (GRCm39)	S373T	probably damaging	Het
Kdm3b	A	G	18: 34,942,345 (GRCm39)	D612G	probably damaging	Het
Ldb1	T	C	19: 46,022,903 (GRCm39)	T261A	probably damaging	Het
Lep	C	A	6: 29,069,089 (GRCm39)	H47N	possibly damaging	Het
Lrrtm2	A	T	18: 35,346,428 (GRCm39)	S291R	possibly damaging	Het
Ncor2	T	C	5: 125,162,062 (GRCm39)	Q404R	unknown	Het
Nlrp4d	T	C	7: 10,116,437 (GRCm39)	H148R	probably benign	Het
Nlrp9a	T	A	7: 26,258,093 (GRCm39)	D570E	probably benign	Het
Nphp3	G	A	9: 103,886,413 (GRCm39)	V202I	probably damaging	Het
Nptn	T	A	9: 58,548,073 (GRCm39)	N159K	probably benign	Het
Or4a69	T	A	2: 89,313,315 (GRCm39)	T55S	probably benign	Het
Or4a72	A	T	2: 89,405,746 (GRCm39)	V108D	possibly damaging	Het
Or51f2	G	A	7: 102,526,980 (GRCm39)	V218I	probably benign	Het
Or52a24	A	T	7: 103,381,585 (GRCm39)	T151S	possibly damaging	Het
Or8b53	A	T	9: 38,667,716 (GRCm39)	H244L	probably damaging	Het
Pcolce	T	A	5: 137,608,769 (GRCm39)	R13*	probably null	Het
Pdgfra	A	G	5: 75,353,264 (GRCm39)	Y1018C	probably damaging	Het
Prima1	A	G	12: 103,201,854 (GRCm39)	S74P	probably damaging	Het
Prl7c1	A	G	13: 27,962,838 (GRCm39)	L55P	probably damaging	Het
Rasef	A	G	4: 73,658,574 (GRCm39)	V513A	probably damaging	Het
Rgs1	T	C	1: 144,121,227 (GRCm39)		probably null	Het
Rlf	T	C	4: 121,005,488 (GRCm39)	E1164G	probably benign	Het
Rnf213	A	T	11: 119,354,171 (GRCm39)	N4016I	probably damaging	Het
Serping1	A	T	2: 84,601,848 (GRCm39)	D207E	probably benign	Het
Setd2	T	A	9: 110,380,464 (GRCm39)	D33E	unknown	Het
Simc1	T	C	13: 54,673,071 (GRCm39)	M473T	probably benign	Het
Slc30a6	T	A	17: 74,725,610 (GRCm39)		probably benign	Het
Slc4a5	T	C	6: 83,242,669 (GRCm39)	L346P	probably damaging	Het
Spef2	T	A	15: 9,596,660 (GRCm39)	Q1473L	probably damaging	Het
St3gal3	G	T	4: 117,817,204 (GRCm39)	A44D	possibly damaging	Het
Sv2b	G	T	7: 74,797,425 (GRCm39)	T323K	probably damaging	Het
Sycp2	T	A	2: 177,993,461 (GRCm39)	N1228I	possibly damaging	Het
Thbs2	T	A	17: 14,910,030 (GRCm39)	M190L	probably benign	Het
Tnrc6a	G	A	7: 122,776,098 (GRCm39)	V1190I	probably benign	Het
Utrn	A	T	10: 12,312,029 (GRCm39)	I673K	possibly damaging	Het
Vmn2r114	C	T	17: 23,510,675 (GRCm39)	V602M	probably damaging	Het
Wdr7	A	T	18: 64,057,989 (GRCm39)	I1273L	probably benign	Het
Zfp618	T	C	4: 63,051,175 (GRCm39)	L652P	probably damaging	Het
Zfp804a	G	A	2: 81,884,095 (GRCm39)		probably benign	Het

Other mutations in Sae1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02206:Sae1	APN	7	16,064,581 (GRCm39)	missense	possibly damaging	0.94
IGL02672:Sae1	APN	7	16,104,273 (GRCm39)	missense	probably damaging	1.00
IGL02881:Sae1	APN	7	16,093,043 (GRCm39)	missense	probably damaging	1.00
R0255:Sae1	UTSW	7	16,104,247 (GRCm39)	nonsense	probably null
R0667:Sae1	UTSW	7	16,102,457 (GRCm39)	missense	probably damaging	1.00
R1374:Sae1	UTSW	7	16,112,333 (GRCm39)	missense	probably damaging	0.97
R1960:Sae1	UTSW	7	16,102,490 (GRCm39)	missense	possibly damaging	0.90
R2278:Sae1	UTSW	7	16,104,291 (GRCm39)	missense	probably damaging	1.00
R5513:Sae1	UTSW	7	16,100,781 (GRCm39)	missense	probably benign	0.00
R5677:Sae1	UTSW	7	16,104,387 (GRCm39)	critical splice acceptor site	probably null
R6694:Sae1	UTSW	7	16,102,461 (GRCm39)	missense	probably damaging	1.00
R6975:Sae1	UTSW	7	16,070,712 (GRCm39)	missense	probably damaging	0.99
R7307:Sae1	UTSW	7	16,102,469 (GRCm39)	nonsense	probably null
R7914:Sae1	UTSW	7	16,121,648 (GRCm39)	missense	unknown
R8437:Sae1	UTSW	7	16,104,279 (GRCm39)	missense	probably damaging	1.00
R9076:Sae1	UTSW	7	16,070,668 (GRCm39)	missense	probably benign
Z1177:Sae1	UTSW	7	16,061,796 (GRCm39)	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