Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02268:Uba2'

287030

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02268

Quality Score

Status

Chromosome

Chromosomal Location

33840121-33868014 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 33842161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135078 (fasta)

Gene Model

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

AlphaFold

Q9Z1F9

Predicted Effect

probably null
Transcript: ENSMUST00000102746

SMART Domains

Protein: ENSMUSP00000099807
Gene: ENSMUSG00000052997

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

noncoding transcript
Transcript: ENSMUST00000124824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142763

Predicted Effect

probably null
Transcript: ENSMUST00000152037

SMART Domains

Protein: ENSMUSP00000135078
Gene: ENSMUSG00000052997

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205711

Coding Region Coverage

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	C	T	10: 28,862,242 (GRCm39)	C16Y	probably benign	Het
Abca13	C	T	11: 9,240,626 (GRCm39)	L830F	probably benign	Het
Apcdd1	T	C	18: 63,083,259 (GRCm39)	V363A	probably damaging	Het
Atosb	T	A	4: 43,036,468 (GRCm39)	R88*	probably null	Het
Cachd1	A	G	4: 100,809,294 (GRCm39)	I260V	possibly damaging	Het
Cass4	T	A	2: 172,268,962 (GRCm39)	M350K	possibly damaging	Het
Ccnjl	A	G	11: 43,470,615 (GRCm39)	T128A	probably benign	Het
Cd6	C	T	19: 10,773,752 (GRCm39)	G361D	probably benign	Het
Cdh22	T	C	2: 164,965,639 (GRCm39)		probably benign	Het
Ces2h	T	A	8: 105,746,572 (GRCm39)	F475Y	probably benign	Het
Col15a1	A	T	4: 47,245,380 (GRCm39)	T44S	probably damaging	Het
Cplx3	C	T	9: 57,509,741 (GRCm39)	E86K	possibly damaging	Het
Crbn	A	G	6: 106,772,004 (GRCm39)	V100A	possibly damaging	Het
D430041D05Rik	C	A	2: 104,071,500 (GRCm39)	V1267L	possibly damaging	Het
Ecrg4	T	A	1: 43,770,111 (GRCm39)	C23S	probably damaging	Het
Elapor1	C	A	3: 108,375,113 (GRCm39)	A585S	probably benign	Het
F930017D23Rik	A	G	10: 43,480,405 (GRCm39)		noncoding transcript	Het
Fastkd3	A	G	13: 68,731,796 (GRCm39)	D39G	probably damaging	Het
Golgb1	T	A	16: 36,733,490 (GRCm39)	S912R	probably benign	Het
H2-T24	T	C	17: 36,328,264 (GRCm39)	Y73C	probably damaging	Het
Ifna9	A	T	4: 88,510,591 (GRCm39)	L11*	probably null	Het
Igsf10	A	T	3: 59,238,573 (GRCm39)	L536*	probably null	Het
Itprid1	A	T	6: 55,861,673 (GRCm39)		probably benign	Het
Kcnma1	A	T	14: 23,593,144 (GRCm39)	I215K	probably damaging	Het
Kdm4c	A	C	4: 74,291,953 (GRCm39)	I857L	possibly damaging	Het
Kptn	A	T	7: 15,857,786 (GRCm39)	H229L	probably benign	Het
Krt32	A	T	11: 99,978,967 (GRCm39)	M29K	probably benign	Het
Lama2	A	G	10: 26,877,112 (GRCm39)		probably benign	Het
Lpcat2b	A	C	5: 107,581,982 (GRCm39)	D437A	probably damaging	Het
Lrrc8c	T	C	5: 105,755,764 (GRCm39)	L513P	probably damaging	Het
Mon1a	T	C	9: 107,778,997 (GRCm39)	V407A	possibly damaging	Het
Myo5c	C	T	9: 75,153,519 (GRCm39)	P135L	probably damaging	Het
Myof	C	T	19: 37,942,877 (GRCm39)	V218M	possibly damaging	Het
Myof	T	A	19: 37,963,311 (GRCm39)	I429F	possibly damaging	Het
Nbas	A	G	12: 13,455,398 (GRCm39)	D1204G	possibly damaging	Het
Nckap1	G	A	2: 80,358,962 (GRCm39)	P560S	probably benign	Het
Notch2	G	A	3: 98,044,713 (GRCm39)	G1545D	probably damaging	Het
Ntrk1	G	A	3: 87,688,838 (GRCm39)	H572Y	probably damaging	Het
Or2t44	T	C	11: 58,677,551 (GRCm39)	F164L	probably benign	Het
Or7e177	T	C	9: 20,211,588 (GRCm39)	S31P	probably damaging	Het
Pate8	T	C	9: 36,493,166 (GRCm39)	Y52C	possibly damaging	Het
Pcdh15	A	T	10: 74,178,504 (GRCm39)	D587V	probably damaging	Het
Pik3cb	T	C	9: 98,928,609 (GRCm39)	Y882C	probably benign	Het
Plch1	T	A	3: 63,606,704 (GRCm39)	*1074C	probably null	Het
Plcxd1	T	C	5: 110,248,140 (GRCm39)		probably benign	Het
Ppp2r2d	A	G	7: 138,474,700 (GRCm39)	N27S	probably null	Het
Prkar2a	A	G	9: 108,624,152 (GRCm39)	M390V	probably benign	Het
Rab3gap1	A	G	1: 127,796,695 (GRCm39)	T18A	probably damaging	Het
Ranbp2	T	C	10: 58,329,475 (GRCm39)		probably benign	Het
Rasl12	T	C	9: 65,305,946 (GRCm39)	S34P	probably damaging	Het
Rpusd3	A	T	6: 113,395,818 (GRCm39)	L65Q	possibly damaging	Het
Rtf2	A	G	2: 172,310,639 (GRCm39)	K290R	probably damaging	Het
Rwdd4a	T	A	8: 48,003,731 (GRCm39)	L179*	probably null	Het
Scgb1b24	A	G	7: 33,444,388 (GRCm39)	E87G	possibly damaging	Het
Sgo2a	A	G	1: 58,056,881 (GRCm39)	I1022V	probably benign	Het
Smg1	A	C	7: 117,781,764 (GRCm39)	I1174M	probably benign	Het
Spata17	A	T	1: 186,872,595 (GRCm39)	M72K	probably damaging	Het
Synpo2	G	A	3: 122,910,632 (GRCm39)	P338S	probably damaging	Het
Tpi1	G	A	6: 124,791,087 (GRCm39)	T50I	probably benign	Het
Trpm1	A	G	7: 63,867,362 (GRCm39)	E354G	probably damaging	Het
Wnk1	G	A	6: 119,914,334 (GRCm39)	R1823*	probably null	Het
Zfp248	A	C	6: 118,430,801 (GRCm39)		probably benign	Het
Zfp51	A	T	17: 21,683,681 (GRCm39)	K99*	probably null	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
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
R7181:Uba2	UTSW	7	33,840,854 (GRCm39)	missense	probably benign	0.01
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

Posted On

2015-04-16