Mutagenetix > Incidental Mutation

Incidental Mutation 'R7181:Uba2'

558977

Institutional Source

Beutler Lab

Gene Symbol

Uba2

Ensembl Gene

ENSMUSG00000052997

Gene Name

ubiquitin-like modifier activating enzyme 2

Synonyms

SAE2, anthracycline-associated resistance, Uble1b, Arx, UBA2, Sumo-1 activating enzyme subunit 2

MMRRC Submission

045270-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33840121-33868014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 33840854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 591 (D591E)

Ref Sequence

ENSEMBL: ENSMUSP00000099807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102746] [ENSMUST00000152037]

AlphaFold

Q9Z1F9

Predicted Effect

probably benign
Transcript: ENSMUST00000102746
AA Change: D591E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000099807
Gene: ENSMUSG00000052997
AA Change: D591E

Domain	Start	End	E-Value	Type
Pfam:ThiF	3	442	5.8e-77	PFAM
Pfam:UAE_UbL	450	537	5.6e-27	PFAM
Pfam:UBA2_C	547	634	8.9e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152037

SMART Domains

Protein: ENSMUSP00000135078
Gene: ENSMUSG00000052997

Domain	Start	End	E-Value	Type
PDB:1Y8R\|E	1	66	8e-37	PDB

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (62/63)

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 (MIM 613294) and UBA2 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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,188,037 (GRCm39)	N182D	probably benign	Het
Adgrl1	A	G	8: 84,652,878 (GRCm39)		probably null	Het
Adm	T	C	7: 110,228,236 (GRCm39)	I139T	probably damaging	Het
Ahnak	A	T	19: 8,990,852 (GRCm39)	K4045N	probably damaging	Het
Axin1	T	A	17: 26,392,752 (GRCm39)	S344R	probably damaging	Het
Cacna1g	T	C	11: 94,306,691 (GRCm39)	S1896G	probably benign	Het
Cd209c	A	G	8: 3,995,712 (GRCm39)	V30A	probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdh8	A	T	8: 99,825,557 (GRCm39)	M520K	probably benign	Het
Cyp2b23	G	A	7: 26,373,828 (GRCm39)	T306I	probably damaging	Het
Dnajc10	T	G	2: 80,149,587 (GRCm39)	Y96*	probably null	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Elmod1	A	C	9: 53,841,382 (GRCm39)		probably null	Het
Eva1b	A	G	4: 126,043,446 (GRCm39)	H162R	possibly damaging	Het
Fam222b	A	T	11: 78,045,804 (GRCm39)	N455I	probably damaging	Het
Fer1l6	G	A	15: 58,447,146 (GRCm39)	A626T	probably benign	Het
Fgd6	A	G	10: 93,879,373 (GRCm39)	T76A	probably benign	Het
Fndc7	A	G	3: 108,788,640 (GRCm39)		probably null	Het
Gabrg2	T	A	11: 41,811,261 (GRCm39)	I295F	probably damaging	Het
Gm10406	A	T	14: 7,027,359 (GRCm38)		probably null	Het
Gm47189	T	C	14: 41,492,059 (GRCm39)	M73V	probably benign	Het
Gm9758	A	T	5: 14,963,667 (GRCm39)	S54T	probably damaging	Het
Gm9857	A	G	3: 108,847,554 (GRCm39)	S70P	unknown	Het
Gsap	A	T	5: 21,458,427 (GRCm39)	E470D	probably damaging	Het
Hesx1	T	A	14: 26,722,678 (GRCm39)	M1K	probably null	Het
Hirip3	A	G	7: 126,463,235 (GRCm39)	D397G	probably damaging	Het
Kalrn	T	A	16: 33,983,447 (GRCm39)	N13I	probably benign	Het
Mettl8	A	T	2: 70,803,706 (GRCm39)	S194T	possibly damaging	Het
Mrps35	T	G	6: 146,957,491 (GRCm39)		probably null	Het
Myrfl	G	T	10: 116,697,448 (GRCm39)	N25K	probably damaging	Het
Or51b6b	C	A	7: 103,310,020 (GRCm39)	G146C	probably damaging	Het
Or7a41	A	G	10: 78,871,287 (GRCm39)	Y219C	probably damaging	Het
Or9k2b	A	T	10: 130,016,626 (GRCm39)	I41N	possibly damaging	Het
Phf14	A	T	6: 11,933,340 (GRCm39)	E67D	unknown	Het
Prdm16	C	T	4: 154,613,094 (GRCm39)	G111D	probably damaging	Het
Prex1	G	A	2: 166,412,291 (GRCm39)	A1568V	probably damaging	Het
Ptpn23	G	A	9: 110,214,325 (GRCm39)	T1692I	unknown	Het
Ptprb	C	T	10: 116,204,671 (GRCm39)	S1835L	probably damaging	Het
Rbm19	G	A	5: 120,254,532 (GRCm39)		probably benign	Het
Rgs7bp	T	A	13: 105,119,382 (GRCm39)	H152L	possibly damaging	Het
Rmdn3	A	T	2: 118,969,849 (GRCm39)	L404Q	probably damaging	Het
Rock2	T	A	12: 17,023,144 (GRCm39)	F1148I	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sec24c	C	A	14: 20,739,401 (GRCm39)	H559N	probably damaging	Het
Sephs2	T	C	7: 126,872,992 (GRCm39)	S34G	probably benign	Het
Serpina6	A	T	12: 103,613,203 (GRCm39)	S366T	probably benign	Het
Serpinb7	A	T	1: 107,378,052 (GRCm39)	E248D	probably benign	Het
Sesn1	G	T	10: 41,779,724 (GRCm39)	R386L	possibly damaging	Het
Skida1	T	C	2: 18,051,602 (GRCm39)	S430G	unknown	Het
Slc28a2	A	T	2: 122,282,462 (GRCm39)		probably null	Het
Slc39a8	T	C	3: 135,563,299 (GRCm39)	F203S	possibly damaging	Het
Svip	A	G	7: 51,653,177 (GRCm39)	S46P	possibly damaging	Het
Tbx21	T	A	11: 96,989,923 (GRCm39)	D423V	probably benign	Het
Tcirg1	G	A	19: 3,953,576 (GRCm39)	A117V	probably null	Het
Tmem63b	T	A	17: 45,984,094 (GRCm39)	K258N	probably benign	Het
Tmem94	A	G	11: 115,685,600 (GRCm39)	N951S	probably damaging	Het
Unc13b	C	T	4: 43,258,893 (GRCm39)	R1356W	probably damaging	Het
Wasf3	A	G	5: 146,403,615 (GRCm39)	T242A	probably benign	Het
Wscd1	T	C	11: 71,650,709 (GRCm39)	L12P	probably damaging	Het
Zfp770	T	C	2: 114,027,872 (GRCm39)	K66E	probably damaging	Het
Zfyve26	A	T	12: 79,315,182 (GRCm39)	D1431E	probably benign	Het
Zhx2	G	A	15: 57,686,746 (GRCm39)	R705H	probably benign	Het

Other mutations in Uba2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Uba2	APN	7	33,858,294 (GRCm39)	missense	probably damaging	1.00
IGL01593:Uba2	APN	7	33,845,689 (GRCm39)	missense	probably damaging	0.96
IGL02268:Uba2	APN	7	33,842,161 (GRCm39)	critical splice donor site	probably null
IGL03399:Uba2	APN	7	33,843,939 (GRCm39)	missense	probably damaging	1.00
Divided	UTSW	7	33,864,860 (GRCm39)	missense	probably damaging	1.00
Minus	UTSW	7	33,845,687 (GRCm39)	nonsense	probably null
Subtracted	UTSW	7	33,850,239 (GRCm39)	missense	possibly damaging	0.65
R0242:Uba2	UTSW	7	33,854,054 (GRCm39)	missense	possibly damaging	0.92
R0242:Uba2	UTSW	7	33,854,054 (GRCm39)	missense	possibly damaging	0.92
R0270:Uba2	UTSW	7	33,850,281 (GRCm39)	missense	possibly damaging	0.95
R0390:Uba2	UTSW	7	33,850,446 (GRCm39)	missense	probably benign	0.10
R0603:Uba2	UTSW	7	33,861,038 (GRCm39)	missense	probably damaging	1.00
R1066:Uba2	UTSW	7	33,858,247 (GRCm39)	missense	probably damaging	1.00
R1806:Uba2	UTSW	7	33,862,624 (GRCm39)	missense	probably damaging	0.99
R1813:Uba2	UTSW	7	33,850,455 (GRCm39)	missense	probably damaging	1.00
R1896:Uba2	UTSW	7	33,850,455 (GRCm39)	missense	probably damaging	1.00
R2210:Uba2	UTSW	7	33,862,587 (GRCm39)	missense	probably damaging	1.00
R3618:Uba2	UTSW	7	33,853,907 (GRCm39)	critical splice donor site	probably null
R3779:Uba2	UTSW	7	33,854,071 (GRCm39)	critical splice acceptor site	probably null
R3793:Uba2	UTSW	7	33,845,722 (GRCm39)	missense	probably damaging	0.97
R4607:Uba2	UTSW	7	33,854,021 (GRCm39)	missense	probably damaging	1.00
R4608:Uba2	UTSW	7	33,854,021 (GRCm39)	missense	probably damaging	1.00
R5938:Uba2	UTSW	7	33,864,915 (GRCm39)	splice site	probably null
R6404:Uba2	UTSW	7	33,853,985 (GRCm39)	missense	probably damaging	0.98
R7050:Uba2	UTSW	7	33,845,687 (GRCm39)	nonsense	probably null
R7369:Uba2	UTSW	7	33,850,239 (GRCm39)	missense	possibly damaging	0.65
R7622:Uba2	UTSW	7	33,864,860 (GRCm39)	missense	probably damaging	1.00
R7727:Uba2	UTSW	7	33,850,275 (GRCm39)	missense	probably damaging	0.99
R7807:Uba2	UTSW	7	33,862,638 (GRCm39)	missense	possibly damaging	0.91
R8038:Uba2	UTSW	7	33,847,022 (GRCm39)	missense	probably damaging	1.00
R8057:Uba2	UTSW	7	33,867,835 (GRCm39)	missense	possibly damaging	0.80
R8120:Uba2	UTSW	7	33,867,812 (GRCm39)	missense	probably benign
R8253:Uba2	UTSW	7	33,850,323 (GRCm39)	missense	probably damaging	0.96
R8961:Uba2	UTSW	7	33,855,642 (GRCm39)	intron	probably benign
R8988:Uba2	UTSW	7	33,853,987 (GRCm39)	missense	probably benign
R9672:Uba2	UTSW	7	33,856,749 (GRCm39)	missense	probably benign	0.29
X0026:Uba2	UTSW	7	33,853,904 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GGATCTAACTTTTGGTTCCGACC -3'
(R):5'- CAGTTTGGCTCCCCAGTAAC -3'

Sequencing Primer
(F):5'- TTCCGACCAGACCAAGGG -3'
(R):5'- CAACCTTCTCCTAAGAGTAGATGTGC -3'

Posted On

2019-06-26