Mutagenetix > Incidental Mutation

Incidental Mutation 'R7807:Uba2'

600860

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

045862-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34140688-34169599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34163213 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 100 (D100G)

Ref Sequence

ENSEMBL: ENSMUSP00000099807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102746] [ENSMUST00000156253] [ENSMUST00000175991]

AlphaFold

Q9Z1F9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102746
AA Change: D100G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099807
Gene: ENSMUSG00000052997
AA Change: D100G

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: ENSMUST00000156253
AA Change: D78G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116605
Gene: ENSMUSG00000052997
AA Change: D78G

Domain	Start	End	E-Value	Type
Pfam:ThiF	10	119	1e-27	PFAM

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	C	A	9: 21,535,980 (GRCm38)	T146K	probably benign	Het
Alms1	T	A	6: 85,622,976 (GRCm38)	S1595T	possibly damaging	Het
Ankrd44	A	T	1: 54,792,476 (GRCm38)	I56N	probably damaging	Het
Anln	C	A	9: 22,360,880 (GRCm38)	V648F	probably damaging	Het
Arhgap29	A	G	3: 122,014,332 (GRCm38)	D1053G	probably benign	Het
Baalc	T	C	15: 38,934,017 (GRCm38)	S68P	probably benign	Het
Begain	T	C	12: 109,038,930 (GRCm38)	D52G	probably damaging	Het
Blmh	A	G	11: 76,946,214 (GRCm38)	I41V	probably benign	Het
Bpifc	T	A	10: 85,976,250 (GRCm38)	I365F	possibly damaging	Het
C2	G	T	17: 34,876,371 (GRCm38)	S199R	possibly damaging	Het
Ccbe1	T	A	18: 66,066,757 (GRCm38)	H298L	probably damaging	Het
Ccdc112	T	A	18: 46,290,759 (GRCm38)	K304I	probably damaging	Het
Ccdc15	T	C	9: 37,315,382 (GRCm38)	E432G	probably benign	Het
Cdh13	T	A	8: 118,283,855 (GRCm38)	M1K	probably null	Het
Cipc	T	C	12: 86,962,125 (GRCm38)	S253P	possibly damaging	Het
Clcn1	A	G	6: 42,310,348 (GRCm38)		probably null	Het
Clock	A	T	5: 76,243,135 (GRCm38)	N273K	probably benign	Het
Cyp19a1	T	C	9: 54,166,842 (GRCm38)	D476G	probably benign	Het
Dnaaf9	T	C	2: 130,710,865 (GRCm38)	K1092E	probably damaging	Het
Dnah7b	A	G	1: 46,214,367 (GRCm38)	I1811V	probably benign	Het
Fat1	C	A	8: 45,041,973 (GRCm38)	T4091K	probably damaging	Het
Gm10340	T	A	14: 3,134,925 (GRCm38)	N64K	probably damaging	Het
Hectd1	G	A	12: 51,745,388 (GRCm38)	R2523C	probably damaging	Het
Hgf	A	G	5: 16,577,011 (GRCm38)	H244R	probably damaging	Het
Hgs	G	T	11: 120,479,934 (GRCm38)	A567S	probably damaging	Het
Igdcc4	T	C	9: 65,133,795 (GRCm38)	V1036A	probably benign	Het
Keg1	G	A	19: 12,714,634 (GRCm38)		probably null	Het
Klhl8	A	T	5: 103,876,066 (GRCm38)	L156Q	probably damaging	Het
Lmln	T	C	16: 33,107,131 (GRCm38)	Y521H	probably benign	Het
Lrrc7	A	G	3: 158,160,487 (GRCm38)	S1206P	probably damaging	Het
Mad1l1	T	A	5: 140,088,786 (GRCm38)	I550F	probably benign	Het
Marf1	C	T	16: 14,153,889 (GRCm38)	W28*	probably null	Het
Mfsd11	T	G	11: 116,863,907 (GRCm38)	S215A	probably benign	Het
Mpped2	C	A	2: 106,744,740 (GRCm38)	H57N	possibly damaging	Het
Mslnl	A	G	17: 25,746,777 (GRCm38)	M542V	probably benign	Het
Myh6	G	T	14: 54,942,440 (GRCm38)	H1903Q	probably damaging	Het
Neo1	T	C	9: 58,990,494 (GRCm38)	T60A	probably benign	Het
Npm2	T	A	14: 70,652,507 (GRCm38)		probably null	Het
Or5b123	C	A	19: 13,619,921 (GRCm38)	T210K	probably damaging	Het
Or5d20-ps1	T	C	2: 88,101,565 (GRCm38)	S141G	probably benign	Het
Or7a39	T	A	10: 78,879,209 (GRCm38)	S12R	probably benign	Het
Pax9	A	T	12: 56,697,065 (GRCm38)	I166F	possibly damaging	Het
Pcsk9	A	G	4: 106,463,895 (GRCm38)	S6P	possibly damaging	Het
Pikfyve	A	G	1: 65,269,942 (GRCm38)	Y1893C	probably damaging	Het
Pirb	T	C	7: 3,719,865 (GRCm38)	T43A	possibly damaging	Het
Pou3f1	A	G	4: 124,658,281 (GRCm38)	D192G	possibly damaging	Het
Pus3	C	G	9: 35,566,725 (GRCm38)	R418G	probably damaging	Het
Rexo1	C	T	10: 80,550,136 (GRCm38)	V363I	probably benign	Het
Sdcbp	A	G	4: 6,393,688 (GRCm38)	T269A	probably damaging	Het
Sele	T	C	1: 164,053,893 (GRCm38)	V523A	probably benign	Het
Serpinb8	T	A	1: 107,604,727 (GRCm38)	M183K	probably damaging	Het
Sh2d4a	T	G	8: 68,282,381 (GRCm38)	S51A	probably benign	Het
Siglec15	A	G	18: 78,047,481 (GRCm38)	S201P	probably damaging	Het
Slc10a5	C	T	3: 10,335,469 (GRCm38)	V44I	probably benign	Het
Slc16a13	A	G	11: 70,220,562 (GRCm38)	V39A	probably damaging	Het
Slc25a13	G	A	6: 6,117,164 (GRCm38)	R184W	probably damaging	Het
Slc35f5	T	A	1: 125,584,541 (GRCm38)	D359E	probably damaging	Het
Slc3a1	A	G	17: 85,063,943 (GRCm38)	E641G	probably benign	Het
Slf1	T	C	13: 77,046,704 (GRCm38)	D834G	probably damaging	Het
Spata31f1e	A	C	4: 42,793,885 (GRCm38)	H82Q	probably benign	Het
Stim1	T	C	7: 102,427,141 (GRCm38)	I433T	probably damaging	Het
Stra6	T	A	9: 58,150,161 (GRCm38)	I418K	probably damaging	Het
Tanc2	A	G	11: 105,867,654 (GRCm38)	N747S	probably benign	Het
Tet2	T	C	3: 133,486,541 (GRCm38)	T711A	possibly damaging	Het
Trpm6	T	C	19: 18,829,856 (GRCm38)	I988T	probably benign	Het
Ttc41	T	A	10: 86,776,631 (GRCm38)	I1256N	probably benign	Het
Vmn1r43	A	G	6: 89,870,237 (GRCm38)	I89T	probably benign	Het
Vmn2r58	T	A	7: 41,872,486 (GRCm38)	Y62F	probably benign	Het
Ylpm1	C	T	12: 85,014,081 (GRCm38)	Q428*	probably null	Het
Zcrb1	T	C	15: 93,391,121 (GRCm38)	D88G	probably damaging	Het
Zmym1	A	C	4: 127,047,874 (GRCm38)	I907S	probably damaging	Het

Other mutations in Uba2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Uba2	APN	7	34,158,869 (GRCm38)	missense	probably damaging	1.00
IGL01593:Uba2	APN	7	34,146,264 (GRCm38)	missense	probably damaging	0.96
IGL02268:Uba2	APN	7	34,142,736 (GRCm38)	critical splice donor site	probably null
IGL03399:Uba2	APN	7	34,144,514 (GRCm38)	missense	probably damaging	1.00
Divided	UTSW	7	34,165,435 (GRCm38)	missense	probably damaging	1.00
Minus	UTSW	7	34,146,262 (GRCm38)	nonsense	probably null
Subtracted	UTSW	7	34,150,814 (GRCm38)	missense	possibly damaging	0.65
R0242:Uba2	UTSW	7	34,154,629 (GRCm38)	missense	possibly damaging	0.92
R0242:Uba2	UTSW	7	34,154,629 (GRCm38)	missense	possibly damaging	0.92
R0270:Uba2	UTSW	7	34,150,856 (GRCm38)	missense	possibly damaging	0.95
R0390:Uba2	UTSW	7	34,151,021 (GRCm38)	missense	probably benign	0.10
R0603:Uba2	UTSW	7	34,161,613 (GRCm38)	missense	probably damaging	1.00
R1066:Uba2	UTSW	7	34,158,822 (GRCm38)	missense	probably damaging	1.00
R1806:Uba2	UTSW	7	34,163,199 (GRCm38)	missense	probably damaging	0.99
R1813:Uba2	UTSW	7	34,151,030 (GRCm38)	missense	probably damaging	1.00
R1896:Uba2	UTSW	7	34,151,030 (GRCm38)	missense	probably damaging	1.00
R2210:Uba2	UTSW	7	34,163,162 (GRCm38)	missense	probably damaging	1.00
R3618:Uba2	UTSW	7	34,154,482 (GRCm38)	critical splice donor site	probably null
R3779:Uba2	UTSW	7	34,154,646 (GRCm38)	critical splice acceptor site	probably null
R3793:Uba2	UTSW	7	34,146,297 (GRCm38)	missense	probably damaging	0.97
R4607:Uba2	UTSW	7	34,154,596 (GRCm38)	missense	probably damaging	1.00
R4608:Uba2	UTSW	7	34,154,596 (GRCm38)	missense	probably damaging	1.00
R5938:Uba2	UTSW	7	34,165,490 (GRCm38)	splice site	probably null
R6404:Uba2	UTSW	7	34,154,560 (GRCm38)	missense	probably damaging	0.98
R7050:Uba2	UTSW	7	34,146,262 (GRCm38)	nonsense	probably null
R7181:Uba2	UTSW	7	34,141,429 (GRCm38)	missense	probably benign	0.01
R7369:Uba2	UTSW	7	34,150,814 (GRCm38)	missense	possibly damaging	0.65
R7622:Uba2	UTSW	7	34,165,435 (GRCm38)	missense	probably damaging	1.00
R7727:Uba2	UTSW	7	34,150,850 (GRCm38)	missense	probably damaging	0.99
R8038:Uba2	UTSW	7	34,147,597 (GRCm38)	missense	probably damaging	1.00
R8057:Uba2	UTSW	7	34,168,410 (GRCm38)	missense	possibly damaging	0.80
R8120:Uba2	UTSW	7	34,168,387 (GRCm38)	missense	probably benign
R8253:Uba2	UTSW	7	34,150,898 (GRCm38)	missense	probably damaging	0.96
R8961:Uba2	UTSW	7	34,156,217 (GRCm38)	intron	probably benign
R8988:Uba2	UTSW	7	34,154,562 (GRCm38)	missense	probably benign
R9672:Uba2	UTSW	7	34,157,324 (GRCm38)	missense	probably benign	0.29
X0026:Uba2	UTSW	7	34,154,479 (GRCm38)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GTTGCACCTGTGAAGATTTGGC -3'
(R):5'- CTTAGGTAGCTGGTCAGAAAGG -3'

Sequencing Primer
(F):5'- GCTATCCTGGAACTCTGTAGACCAG -3'
(R):5'- TTGAGAATAGTTCCTTTAAGCTGTG -3'

Posted On

2019-11-26