Mutagenetix > Incidental Mutation

Incidental Mutation 'R9100:Uba3'

691613

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

068914-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97160631-97182608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97163671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 306 (V306E)

Ref Sequence

ENSEMBL: ENSMUSP00000086701 (fasta)

Gene Model

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

AlphaFold

Q8C878

Predicted Effect

probably damaging
Transcript: ENSMUST00000089287
AA Change: V306E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086701
Gene: ENSMUSG00000030061
AA Change: V306E

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: V292E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130954
Gene: ENSMUSG00000030061
AA Change: V292E

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

probably benign
Transcript: ENSMUST00000204056

SMART Domains

Protein: ENSMUSP00000145309
Gene: ENSMUSG00000030061

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (75/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,853,800 (GRCm39)	V444A	possibly damaging	Het
Add1	T	A	5: 34,770,622 (GRCm39)		probably benign	Het
Adgrg3	A	G	8: 95,762,891 (GRCm39)		probably benign	Het
Adgrl3	A	C	5: 81,842,299 (GRCm39)	Q809P	possibly damaging	Het
Ankmy2	T	C	12: 36,236,806 (GRCm39)	C205R	probably damaging	Het
Atp6v1b2	A	G	8: 69,541,476 (GRCm39)	N11S		Het
B3gnt6	T	A	7: 97,843,958 (GRCm39)	M1L	not run	Het
Bltp1	A	G	3: 37,098,907 (GRCm39)	K1256R		Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cdca8	T	C	4: 124,830,238 (GRCm39)	T45A	probably benign	Het
Ces2b	C	A	8: 105,558,221 (GRCm39)		probably benign	Het
Clip4	G	A	17: 72,117,884 (GRCm39)	G310R	probably damaging	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cnot3	A	G	7: 3,661,192 (GRCm39)	D567G	probably benign	Het
Cnot6l	T	C	5: 96,230,875 (GRCm39)	D364G	probably damaging	Het
Cpped1	A	G	16: 11,646,419 (GRCm39)	V111A		Het
Cstdc4	T	A	16: 36,008,285 (GRCm39)	M57K	possibly damaging	Het
Cyp11b2	T	C	15: 74,722,995 (GRCm39)	K468E	probably damaging	Het
Dpp4	T	G	2: 62,204,733 (GRCm39)	T245P	possibly damaging	Het
Efcab15	T	C	11: 103,090,893 (GRCm39)	T151A	probably benign	Het
Fat2	A	G	11: 55,153,347 (GRCm39)	W3622R	probably damaging	Het
Fat4	A	C	3: 39,064,803 (GRCm39)	K4920Q		Het
Frmpd2	A	G	14: 33,252,407 (GRCm39)	I656M	probably benign	Het
Gck	A	G	11: 5,856,516 (GRCm39)	Y214H	probably damaging	Het
Gde1	C	T	7: 118,294,305 (GRCm39)	R166H	probably benign	Het
Gdf7	A	T	12: 8,348,652 (GRCm39)	F215Y	unknown	Het
Gdpgp1	A	G	7: 79,888,282 (GRCm39)	I104M	probably benign	Het
Gldc	A	G	19: 30,077,314 (GRCm39)	S953P	possibly damaging	Het
Golga3	C	T	5: 110,337,544 (GRCm39)	H411Y	probably benign	Het
Gpn1	G	T	5: 31,655,740 (GRCm39)	R101I	probably damaging	Het
Itgb5	T	A	16: 33,740,551 (GRCm39)	S554T	possibly damaging	Het
Klhl1	G	A	14: 96,584,364 (GRCm39)	L289F	probably damaging	Het
Klhl13	C	T	X: 23,113,733 (GRCm39)	R95Q	probably benign	Het
Kmt2d	G	C	15: 98,747,832 (GRCm39)	T3164R	unknown	Het
Knl1	T	C	2: 118,899,469 (GRCm39)	V390A	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	GCCACAGCCCCCACAGGAACTACA	7: 141,728,836 (GRCm39)		probably benign	Het
Lamtor4	G	A	5: 138,254,595 (GRCm39)		probably benign	Het
Lonrf1	AGGCGGCGGCGGCGG	AGGCGGCGGCGG	8: 36,715,919 (GRCm39)		probably benign	Het
Ltbp1	C	T	17: 75,622,102 (GRCm39)	L829F	probably benign	Het
Ltbp1	T	A	17: 75,622,103 (GRCm39)	L829H	probably damaging	Het
Mrgpra1	C	T	7: 46,984,732 (GRCm39)	E316K	probably damaging	Het
Muc16	T	A	9: 18,556,966 (GRCm39)	H3109L	unknown	Het
Nck1	T	C	9: 100,377,561 (GRCm39)	E368G	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nus1	A	T	10: 52,305,287 (GRCm39)		probably null	Het
Nxph2	T	C	2: 23,289,780 (GRCm39)	V44A	probably benign	Het
Or1e30	A	G	11: 73,678,687 (GRCm39)	K308E	probably benign	Het
Or4f56	A	G	2: 111,703,606 (GRCm39)	M198T	possibly damaging	Het
Or4k35	A	G	2: 111,100,094 (GRCm39)	L206P	probably benign	Het
Or4z4	G	T	19: 12,076,254 (GRCm39)	H250N	probably benign	Het
Or5d35	T	C	2: 87,855,330 (GRCm39)	I88T	probably benign	Het
Or5m11b	A	G	2: 85,806,096 (GRCm39)	K170E	probably benign	Het
Or6d13	A	T	6: 116,517,990 (GRCm39)	N192I	possibly damaging	Het
Otof	T	C	5: 30,539,696 (GRCm39)	D1039G	possibly damaging	Het
Parpbp	T	A	10: 87,968,969 (GRCm39)	Q159L	possibly damaging	Het
Per2	A	T	1: 91,351,464 (GRCm39)	L1014Q	possibly damaging	Het
Pik3ap1	C	G	19: 41,312,924 (GRCm39)		silent	Het
Pik3ca	A	G	3: 32,514,168 (GRCm39)	N885D	probably damaging	Het
Pip5k1c	T	C	10: 81,145,056 (GRCm39)	V299A	probably benign	Het
Polr3h	A	T	15: 81,806,717 (GRCm39)		probably benign	Het
Pramel11	T	A	4: 143,623,646 (GRCm39)	N176I	probably benign	Het
Pramel23	T	G	4: 143,425,727 (GRCm39)	N72T	probably benign	Het
Pus3	C	A	9: 35,476,946 (GRCm39)	Q248K	probably benign	Het
Sectm1a	T	A	11: 120,960,569 (GRCm39)	Q82L	possibly damaging	Het
Sema3e	A	G	5: 14,282,208 (GRCm39)	Y448C	probably damaging	Het
Slc12a4	A	T	8: 106,675,774 (GRCm39)	S584T	probably benign	Het
Slc25a40	T	C	5: 8,499,613 (GRCm39)	F249L	probably benign	Het
St3gal6	T	A	16: 58,306,793 (GRCm39)	N79I		Het
Stxbp4	A	T	11: 90,426,320 (GRCm39)	I496K	possibly damaging	Het
Sulf1	A	G	1: 12,878,118 (GRCm39)	Y202C	probably damaging	Het
Swt1	A	G	1: 151,299,256 (GRCm39)		probably null	Het
Tdrd6	T	C	17: 43,936,305 (GRCm39)	Y1581C	possibly damaging	Het
Tenm4	G	C	7: 96,495,061 (GRCm39)	G1163A	probably damaging	Het
Tlr4	A	G	4: 66,758,518 (GRCm39)	E437G	probably benign	Het
Txnrd2	A	T	16: 18,256,315 (GRCm39)	H101L	probably damaging	Het
Unc5b	T	C	10: 60,604,152 (GRCm39)	Q814R	probably damaging	Het
Vamp5	T	G	6: 72,347,304 (GRCm39)	E5A	possibly damaging	Het
Vmn1r69	T	A	7: 10,314,064 (GRCm39)	R222S	probably damaging	Het
Zfp507	G	A	7: 35,494,446 (GRCm39)	T199I	probably benign	Het
Zfyve19	T	G	2: 119,041,718 (GRCm39)	L95R	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
R2076:Uba3	UTSW	6	97,176,241 (GRCm39)	missense	probably damaging	1.00
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
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'- AGCACTGTGTCTAAGAGAAACG -3'
(R):5'- ACTACCTCTAGACTCTGAGGGTAC -3'

Sequencing Primer
(F):5'- CTGTGTCTAAGAGAAACGTAAGGTCC -3'
(R):5'- TCACATGTACACATACCTGCATATG -3'

Posted On

2021-12-30