Mutagenetix > Incidental Mutation

Incidental Mutation 'R1813:Uba2'

202555

Institutional Source

Beutler Lab

Gene Symbol

Uba2

Ensembl Gene

ENSMUSG00000052997

Gene Name

ubiquitin-like modifier activating enzyme 2

Synonyms

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

MMRRC Submission

039841-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1813 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34140688-34169599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34151030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 364 (F364S)

Ref Sequence

ENSEMBL: ENSMUSP00000099807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102746] [ENSMUST00000175991]

AlphaFold

Q9Z1F9

Predicted Effect

probably damaging
Transcript: ENSMUST00000102746
AA Change: F364S

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

SMART Domains

Protein: ENSMUSP00000099807
Gene: ENSMUSG00000052997
AA Change: F364S

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: ENSMUST00000134856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139916

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142763

Predicted Effect

probably benign
Transcript: ENSMUST00000175991

SMART Domains

Protein: ENSMUSP00000135885
Gene: ENSMUSG00000052997

Domain	Start	End	E-Value	Type
Pfam:UBA_e1_thiolCys	31	75	5.3e-26	PFAM
low complexity region	88	105	N/A	INTRINSIC

Meta Mutation Damage Score

0.9697

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.8%
20x: 90.3%

Validation Efficiency

96% (79/82)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,566,273	N595Y	probably benign	Het
Abca6	A	G	11: 110,233,845		probably benign	Het
Abo	C	A	2: 26,843,597	D199Y	probably damaging	Het
Acvr1c	A	C	2: 58,280,294	V277G	probably damaging	Het
Adam23	G	A	1: 63,545,572	A380T	probably benign	Het
Art2b	A	G	7: 101,580,029	V221A	probably benign	Het
Bcam	A	G	7: 19,766,715	S153P	probably damaging	Het
Brip1	T	C	11: 86,187,080	H174R	possibly damaging	Het
Ccdc186	T	C	19: 56,800,169	D536G	probably benign	Het
Cd109	A	G	9: 78,617,005	N67S	probably benign	Het
Cd8a	G	T	6: 71,373,963	M137I	possibly damaging	Het
Ces2g	T	C	8: 104,966,937	F417L	probably benign	Het
Clec2g	A	G	6: 128,948,697	N23S	unknown	Het
Cntnap2	T	C	6: 46,530,633	Y61C	probably damaging	Het
Cog3	T	A	14: 75,742,344	E182D	probably benign	Het
Dbpht2	A	G	12: 74,295,850		noncoding transcript	Het
Dock4	A	T	12: 40,636,228	N154I	probably damaging	Het
Dysf	T	G	6: 84,151,924	V1422G	possibly damaging	Het
E2f3	T	C	13: 29,920,176	D140G	probably damaging	Het
Epb41l2	T	A	10: 25,441,568		probably null	Het
Epha2	A	G	4: 141,308,546	K98E	possibly damaging	Het
Esyt1	T	C	10: 128,519,618	D444G	probably benign	Het
Fam163a	T	C	1: 156,080,041	T2A	probably damaging	Het
Foxp2	A	T	6: 15,379,768		probably benign	Het
Gcm2	T	C	13: 41,105,891	H34R	probably benign	Het
Gipr	A	G	7: 19,164,071	S79P	probably benign	Het
Gli3	T	C	13: 15,648,691	S333P	probably damaging	Het
Gm10717	T	G	9: 3,026,317	F205C	probably damaging	Het
Gm11639	A	G	11: 104,720,688	K452R	probably benign	Het
Gzmk	A	G	13: 113,172,893	S208P	probably damaging	Het
Htra2	G	T	6: 83,051,602	A318D	probably damaging	Het
Itpkc	T	C	7: 27,208,380	D633G	probably damaging	Het
Lama1	G	A	17: 67,791,223	R1805H	probably benign	Het
Lama4	T	A	10: 39,033,125		probably benign	Het
Lama4	T	C	10: 39,060,186	V619A	probably damaging	Het
Notch3	T	C	17: 32,143,428	T1408A	probably benign	Het
Nwd2	A	G	5: 63,805,410	D779G	probably benign	Het
Nxpe4	A	G	9: 48,393,378	Y255C	possibly damaging	Het
Obox6	A	T	7: 15,834,845	H35Q	possibly damaging	Het
Olfr324	A	G	11: 58,598,307	I304V	probably damaging	Het
Olfr890	T	A	9: 38,143,729	I198N	possibly damaging	Het
Pkig	T	A	2: 163,721,227	I26N	possibly damaging	Het
Plekhm2	C	T	4: 141,642,439	V82M	possibly damaging	Het
Plppr2	G	A	9: 21,947,924	A446T	probably damaging	Het
Psme4	T	A	11: 30,804,353	F203L	probably benign	Het
Sh3bp1	A	G	15: 78,903,680	K137E	probably damaging	Het
Shisa5	T	A	9: 109,056,040	I126N	probably damaging	Het
Slc11a1	T	C	1: 74,375,772	L21P	probably benign	Het
Slc35f1	C	T	10: 52,933,195	P93S	probably damaging	Het
Slc4a4	A	G	5: 89,046,308	T172A	probably damaging	Het
Slc9c1	A	T	16: 45,573,347	Y551F	probably benign	Het
Spata31	T	C	13: 64,921,798	S587P	probably benign	Het
Syna	C	A	5: 134,559,152	M314I	probably benign	Het
Taf5l	A	G	8: 124,003,413	L144P	probably damaging	Het
Tbccd1	T	C	16: 22,822,521	T369A	probably benign	Het
Tnfrsf11b	A	T	15: 54,256,097	C160*	probably null	Het
Trim45	A	G	3: 100,922,967	N19S	probably benign	Het
Unc50	T	A	1: 37,437,242	L161Q	probably damaging	Het
Uso1	A	T	5: 92,201,133		probably null	Het
Usp25	A	G	16: 77,114,950	I956V	probably benign	Het
Utf1	C	A	7: 139,944,300	L143I	probably damaging	Het
Vmn1r158	C	T	7: 22,790,718	C22Y	probably damaging	Het
Vmn1r36	T	A	6: 66,716,772	M40L	probably benign	Het
Vmn2r43	A	G	7: 8,255,056	V386A	possibly damaging	Het
Vps9d1	C	A	8: 123,247,039	R335L	probably damaging	Het
Wasf1	T	A	10: 40,926,589	V80D	probably damaging	Het
Wdr72	G	A	9: 74,276,016	V1077I	possibly damaging	Het
Wnt8a	A	G	18: 34,542,369	M1V	probably null	Het
Zbtb26	A	G	2: 37,436,335	S230P	possibly damaging	Het
Zfp335	A	G	2: 164,892,605	V1247A	probably damaging	Het
Zfp429	T	C	13: 67,390,386	N313S	possibly damaging	Het
Zfp74	A	T	7: 29,935,144	C380S	probably damaging	Het
Zfyve21	G	A	12: 111,824,894	E134K	probably damaging	Het
Zmynd11	T	C	13: 9,689,580	T474A	possibly damaging	Het

Other mutations in Uba2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Uba2	APN	7	34158869	missense	probably damaging	1.00
IGL01593:Uba2	APN	7	34146264	missense	probably damaging	0.96
IGL02268:Uba2	APN	7	34142736	critical splice donor site	probably null
IGL03399:Uba2	APN	7	34144514	missense	probably damaging	1.00
Divided	UTSW	7	34165435	missense	probably damaging	1.00
Minus	UTSW	7	34146262	nonsense	probably null
Subtracted	UTSW	7	34150814	missense	possibly damaging	0.65
R0242:Uba2	UTSW	7	34154629	missense	possibly damaging	0.92
R0242:Uba2	UTSW	7	34154629	missense	possibly damaging	0.92
R0270:Uba2	UTSW	7	34150856	missense	possibly damaging	0.95
R0390:Uba2	UTSW	7	34151021	missense	probably benign	0.10
R0603:Uba2	UTSW	7	34161613	missense	probably damaging	1.00
R1066:Uba2	UTSW	7	34158822	missense	probably damaging	1.00
R1806:Uba2	UTSW	7	34163199	missense	probably damaging	0.99
R1896:Uba2	UTSW	7	34151030	missense	probably damaging	1.00
R2210:Uba2	UTSW	7	34163162	missense	probably damaging	1.00
R3618:Uba2	UTSW	7	34154482	critical splice donor site	probably null
R3779:Uba2	UTSW	7	34154646	critical splice acceptor site	probably null
R3793:Uba2	UTSW	7	34146297	missense	probably damaging	0.97
R4607:Uba2	UTSW	7	34154596	missense	probably damaging	1.00
R4608:Uba2	UTSW	7	34154596	missense	probably damaging	1.00
R5938:Uba2	UTSW	7	34165490	splice site	probably null
R6404:Uba2	UTSW	7	34154560	missense	probably damaging	0.98
R7050:Uba2	UTSW	7	34146262	nonsense	probably null
R7181:Uba2	UTSW	7	34141429	missense	probably benign	0.01
R7369:Uba2	UTSW	7	34150814	missense	possibly damaging	0.65
R7622:Uba2	UTSW	7	34165435	missense	probably damaging	1.00
R7727:Uba2	UTSW	7	34150850	missense	probably damaging	0.99
R7807:Uba2	UTSW	7	34163213	missense	possibly damaging	0.91
R8038:Uba2	UTSW	7	34147597	missense	probably damaging	1.00
R8057:Uba2	UTSW	7	34168410	missense	possibly damaging	0.80
R8120:Uba2	UTSW	7	34168387	missense	probably benign
R8253:Uba2	UTSW	7	34150898	missense	probably damaging	0.96
R8961:Uba2	UTSW	7	34156217	intron	probably benign
R8988:Uba2	UTSW	7	34154562	missense	probably benign
R9672:Uba2	UTSW	7	34157324	missense	probably benign	0.29
X0026:Uba2	UTSW	7	34154479	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CGGCGATCACTGCATTAGTAGTAG -3'
(R):5'- TACTTGCTGTGAGGCCTCATG -3'

Sequencing Primer
(F):5'- CTGCATTAGTAGTAGCTATAGCAGG -3'
(R):5'- TGAGGCCTCATGTGTCAGC -3'

Posted On

2014-06-23