Mutagenetix > Incidental Mutation

Incidental Mutation 'R2076:Uba3'

229154

Institutional Source

Beutler Lab

Gene Symbol

Uba3

Ensembl Gene

ENSMUSG00000030061

Gene Name

ubiquitin-like modifier activating enzyme 3

Synonyms

A830034N06Rik, ubiquitin activating enzyme 3, Ube1c

MMRRC Submission

040081-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2076 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97160631-97182608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 97176241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 88 (D88E)

Ref Sequence

ENSEMBL: ENSMUSP00000130954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089287] [ENSMUST00000164744] [ENSMUST00000204056]

AlphaFold

Q8C878

Predicted Effect

probably damaging
Transcript: ENSMUST00000089287
AA Change: D102E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000086701
Gene: ENSMUSG00000030061
AA Change: D102E

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
Pfam:ThiF	53	369	2.6e-69	PFAM
E2_bind	374	462	1.02e-40	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000164744
AA Change: D88E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130954
Gene: ENSMUSG00000030061
AA Change: D88E

Domain	Start	End	E-Value	Type
Pfam:ThiF	54	199	1.5e-41	PFAM
Pfam:UBA_e1_thiolCys	202	248	8.7e-15	PFAM
Pfam:UBACT	255	321	9e-25	PFAM
E2_bind	360	448	1.02e-40	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203215

Predicted Effect

probably benign
Transcript: ENSMUST00000204056

SMART Domains

Protein: ENSMUSP00000145309
Gene: ENSMUSG00000030061

Domain	Start	End	E-Value	Type
low complexity region	5	56	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204917

Meta Mutation Damage Score

0.8881

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: The protein encoded by this gene is the catalytic subunit of the enzyme that activates NEDD8, a ubiquitin-like molecule that binds to its target proteins through an enzymatic reaction analagous to ubiquitylation. Embryonic mice deficient for this protein die prior to implantation and display apoptosis of the inner cell mass. Trophoblastic cells cannot enter S phase, demonstrating that this gene is required for cell cycle progression during embryogenesis. Two pseudogenes have been found for this gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mutants die at the peri-implantation stage. Mutants exhibit selective apoptosis of the inner cell mass but not of trophoblastic cells. Moreover, the trophoblastic cells fail to enter the S phase of the endoreduplication cycle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,178,478 (GRCm39)	V1165D	probably benign	Het
Acot11	T	C	4: 106,627,910 (GRCm39)	H103R	probably damaging	Het
Apba1	G	T	19: 23,870,587 (GRCm39)	E140*	probably null	Het
Bicdl1	A	T	5: 115,793,987 (GRCm39)	I253N	probably damaging	Het
Ccdc159	T	C	9: 21,840,802 (GRCm39)		probably null	Het
Ccne2	A	G	4: 11,197,177 (GRCm39)	R160G	probably damaging	Het
Cct7	A	T	6: 85,445,122 (GRCm39)	I458F	probably damaging	Het
Cd3g	T	A	9: 44,885,595 (GRCm39)	D50V	probably damaging	Het
Ces2h	T	C	8: 105,745,660 (GRCm39)	L461P	probably benign	Het
Cplane1	T	A	15: 8,248,741 (GRCm39)	D1763E	possibly damaging	Het
Csn2	A	G	5: 87,844,033 (GRCm39)	S19P	probably damaging	Het
Cyp3a11	A	T	5: 145,816,576 (GRCm39)	V4D	probably benign	Het
Ddx3y	A	G	Y: 1,266,593 (GRCm39)		probably null	Het
Dipk1c	G	T	18: 84,755,033 (GRCm39)	D170Y	probably damaging	Het
Dlgap1	C	T	17: 71,093,826 (GRCm39)	Q716*	probably null	Het
Dlx6	A	G	6: 6,867,098 (GRCm39)	S234G	probably benign	Het
Dnah7a	T	C	1: 53,542,968 (GRCm39)	T2401A	probably benign	Het
Dnah7b	T	G	1: 46,281,481 (GRCm39)	Y2847*	probably null	Het
Dpysl2	A	G	14: 67,102,571 (GRCm39)	S30P	probably damaging	Het
Elp1	T	C	4: 56,786,620 (GRCm39)	D441G	probably damaging	Het
Ezh2	A	T	6: 47,553,567 (GRCm39)	L50*	probably null	Het
Fam135b	T	A	15: 71,350,092 (GRCm39)	E349D	probably damaging	Het
Foxl3	A	G	5: 138,807,022 (GRCm39)	D100G	probably benign	Het
Frat2	T	C	19: 41,836,242 (GRCm39)	T37A	probably benign	Het
Hivep1	G	A	13: 42,317,869 (GRCm39)		probably null	Het
Ift25	T	C	4: 107,136,964 (GRCm39)	S121P	possibly damaging	Het
Impdh1	G	A	6: 29,205,162 (GRCm39)	A213V	probably damaging	Het
Irf2	G	T	8: 47,298,962 (GRCm39)	W252L	probably damaging	Het
Irx4	A	G	13: 73,416,384 (GRCm39)	D260G	probably damaging	Het
Kalrn	T	A	16: 34,152,513 (GRCm39)	H338L	probably benign	Het
Kif9	T	A	9: 110,314,100 (GRCm39)		probably null	Het
Klhl24	T	C	16: 19,936,628 (GRCm39)	V412A	probably damaging	Het
Lgals8	T	A	13: 12,469,750 (GRCm39)	K70*	probably null	Het
Mrtfb	T	C	16: 13,219,246 (GRCm39)	S631P	probably benign	Het
Myo1e	T	A	9: 70,291,159 (GRCm39)	N983K	probably benign	Het
Nipbl	T	C	15: 8,340,691 (GRCm39)	R2010G	probably benign	Het
Npw	A	T	17: 24,876,413 (GRCm39)	V166D	possibly damaging	Het
Osbpl5	T	C	7: 143,262,881 (GRCm39)	Y169C	probably damaging	Het
Pcdh15	T	C	10: 74,178,479 (GRCm39)	Y579H	probably damaging	Het
Pde8a	A	G	7: 80,958,693 (GRCm39)	T330A	probably benign	Het
Plxnb2	C	T	15: 89,042,229 (GRCm39)	V1592M	probably damaging	Het
Ppp2r3d	A	C	9: 101,021,570 (GRCm39)	M955R	possibly damaging	Het
Ptprk	T	A	10: 28,465,364 (GRCm39)	I1349K	probably damaging	Het
Rad52	C	T	6: 119,888,040 (GRCm39)	H9Y	probably benign	Het
Rapgef1	A	G	2: 29,592,520 (GRCm39)	Q466R	probably benign	Het
Rb1cc1	T	A	1: 6,320,262 (GRCm39)	I1227N	possibly damaging	Het
Rhbdf1	T	C	11: 32,164,088 (GRCm39)	M273V	probably benign	Het
Shoc1	A	G	4: 59,082,410 (GRCm39)	V406A	possibly damaging	Het
Slc30a3	G	T	5: 31,244,165 (GRCm39)	Y323*	probably null	Het
Slc5a9	T	C	4: 111,742,770 (GRCm39)	I441V	possibly damaging	Het
Spast	G	C	17: 74,659,026 (GRCm39)	G131A	probably damaging	Het
Syne1	C	G	10: 4,990,897 (GRCm39)	W8444S	probably damaging	Het
Tgm4	G	T	9: 122,880,160 (GRCm39)	A211S	probably benign	Het
Themis2	T	C	4: 132,513,113 (GRCm39)	D371G	probably damaging	Het
Tmem132e	T	A	11: 82,325,894 (GRCm39)	I206N	possibly damaging	Het
Vmn1r230	T	A	17: 21,067,144 (GRCm39)	M111K	probably damaging	Het
Wdr35	C	T	12: 9,074,281 (GRCm39)	H971Y	possibly damaging	Het
Yeats2	C	A	16: 20,005,032 (GRCm39)	H356Q	possibly damaging	Het
Zfp180	A	G	7: 23,804,528 (GRCm39)	K316E	probably damaging	Het
Zfp518a	T	C	19: 40,902,771 (GRCm39)	L900P	probably damaging	Het
Zfp655	A	G	5: 145,181,410 (GRCm39)	N423D	possibly damaging	Het
Zfp932	A	G	5: 110,157,334 (GRCm39)	Q344R	probably benign	Het

Other mutations in Uba3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0295:Uba3	UTSW	6	97,168,544 (GRCm39)	missense	possibly damaging	0.71
R0554:Uba3	UTSW	6	97,168,221 (GRCm39)	splice site	probably null
R0780:Uba3	UTSW	6	97,163,666 (GRCm39)	nonsense	probably null
R1572:Uba3	UTSW	6	97,162,298 (GRCm39)	splice site	probably benign
R1759:Uba3	UTSW	6	97,173,865 (GRCm39)	missense	probably damaging	1.00
R1806:Uba3	UTSW	6	97,176,230 (GRCm39)	missense	possibly damaging	0.87
R2907:Uba3	UTSW	6	97,180,514 (GRCm39)	missense	probably benign	0.00
R3237:Uba3	UTSW	6	97,163,201 (GRCm39)	missense	probably damaging	1.00
R5238:Uba3	UTSW	6	97,178,896 (GRCm39)	nonsense	probably null
R6293:Uba3	UTSW	6	97,173,869 (GRCm39)	missense	probably damaging	1.00
R7198:Uba3	UTSW	6	97,182,512 (GRCm39)	start codon destroyed	probably null	0.02
R8066:Uba3	UTSW	6	97,178,882 (GRCm39)	missense	probably damaging	0.97
R8087:Uba3	UTSW	6	97,162,344 (GRCm39)	missense	possibly damaging	0.76
R9016:Uba3	UTSW	6	97,162,694 (GRCm39)	nonsense	probably null
R9100:Uba3	UTSW	6	97,163,671 (GRCm39)	missense	probably damaging	0.99
R9356:Uba3	UTSW	6	97,161,811 (GRCm39)	missense	probably benign	0.08
R9459:Uba3	UTSW	6	97,166,559 (GRCm39)	missense	probably benign	0.00
R9582:Uba3	UTSW	6	97,168,491 (GRCm39)	missense	probably damaging	0.96
R9801:Uba3	UTSW	6	97,162,635 (GRCm39)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- AACAGGGTTTCTAGCACTCTC -3'
(R):5'- CTTAAACCTGAGTGCTTGTGC -3'

Sequencing Primer
(F):5'- TCTCACAGAGACATAAATAAATGCAG -3'
(R):5'- GGAAAGGAAACTGTTGCCT -3'

Posted On

2014-09-17