Mutagenetix > Incidental Mutation

Incidental Mutation 'R9016:Uba3'

685996

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

068846-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9016 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97160631-97182608 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 97162694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 367 (C367*)

Ref Sequence

ENSEMBL: ENSMUSP00000086701 (fasta)

Gene Model

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

AlphaFold

Q8C878

Predicted Effect

probably null
Transcript: ENSMUST00000089287
AA Change: C367*

SMART Domains

Protein: ENSMUSP00000086701
Gene: ENSMUSG00000030061
AA Change: C367*

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 null
Transcript: ENSMUST00000164744
AA Change: C353*

SMART Domains

Protein: ENSMUSP00000130954
Gene: ENSMUSG00000030061
AA Change: C353*

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	C	A	18: 74,932,154 (GRCm39)	S264R	probably damaging	Het
Agap1	T	C	1: 89,694,188 (GRCm39)		probably null	Het
Amer2	G	C	14: 60,617,376 (GRCm39)	D524H	probably damaging	Het
Ank1	G	A	8: 23,606,264 (GRCm39)	G1219S	probably null	Het
Apob	C	T	12: 8,035,408 (GRCm39)		silent	Het
Atg2a	G	C	19: 6,300,111 (GRCm39)	A640P	probably damaging	Het
AW209491	G	A	13: 14,812,193 (GRCm39)	V349M	probably damaging	Het
Bmpr2	C	T	1: 59,854,460 (GRCm39)	T103I	probably damaging	Het
Btaf1	A	C	19: 36,971,705 (GRCm39)	E1231D	probably benign	Het
Btbd7	T	C	12: 102,751,417 (GRCm39)	R1116G	probably damaging	Het
Catsperg1	A	T	7: 28,891,162 (GRCm39)	M627K	probably benign	Het
Cdk7	G	A	13: 100,854,126 (GRCm39)	T121I	probably benign	Het
Csmd3	T	A	15: 47,522,438 (GRCm39)	T1833S		Het
Dapk3	A	T	10: 81,028,266 (GRCm39)	R279W	probably damaging	Het
Dennd2b	A	C	7: 109,139,642 (GRCm39)	D645E	possibly damaging	Het
Dnah9	T	C	11: 65,998,856 (GRCm39)	E1064G	probably damaging	Het
Dner	T	C	1: 84,673,226 (GRCm39)	E75G	probably benign	Het
Dnmt1	T	C	9: 20,847,855 (GRCm39)	E229G	possibly damaging	Het
Fam171a1	G	A	2: 3,227,434 (GRCm39)	A856T	probably benign	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fen1	A	T	19: 10,178,306 (GRCm39)	V46D	probably damaging	Het
Ffar3	T	C	7: 30,554,454 (GRCm39)	R289G	probably damaging	Het
Fhod3	G	A	18: 25,243,136 (GRCm39)	E1165K	possibly damaging	Het
Fras1	A	T	5: 96,783,923 (GRCm39)	H809L	probably damaging	Het
Gbp7	A	T	3: 142,249,870 (GRCm39)	E447V	probably benign	Het
Gja8	T	C	3: 96,827,521 (GRCm39)	D47G	probably damaging	Het
Gm5795	A	G	14: 14,883,574 (GRCm39)	K144E	probably benign	Het
Gm7298	A	C	6: 121,758,800 (GRCm39)	Q1139H	possibly damaging	Het
Gpa33	A	T	1: 165,992,730 (GRCm39)	Y281F	probably damaging	Het
H2-M10.5	G	A	17: 37,084,226 (GRCm39)	E63K	possibly damaging	Het
Hgf	T	C	5: 16,823,956 (GRCm39)	W718R	probably damaging	Het
Ifna5	C	G	4: 88,754,046 (GRCm39)	D95E	probably benign	Het
Ifnar2	T	C	16: 91,201,073 (GRCm39)	L438P	possibly damaging	Het
Ints1	T	C	5: 139,744,326 (GRCm39)	T1479A	probably benign	Het
Kif1a	C	T	1: 92,953,395 (GRCm39)	R1263H	probably damaging	Het
Ltbp2	T	C	12: 84,856,467 (GRCm39)	T686A	probably benign	Het
Med12l	A	T	3: 59,163,294 (GRCm39)	E1307V	probably damaging	Het
Mtcl1	T	A	17: 66,651,062 (GRCm39)	T1468S	probably damaging	Het
Myo9a	C	T	9: 59,775,427 (GRCm39)	Q1013*	probably null	Het
Nckap5	T	C	1: 126,623,491 (GRCm39)	M1V	probably null	Het
Nos3	G	T	5: 24,588,639 (GRCm39)	V1122F	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Odad1	T	G	7: 45,585,988 (GRCm39)	C128W	probably damaging	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or52n4	A	T	7: 104,293,828 (GRCm39)	C250*	probably null	Het
Oscar	A	G	7: 3,619,072 (GRCm39)	V2A	probably benign	Het
P2rx6	T	A	16: 17,385,304 (GRCm39)	H132Q	possibly damaging	Het
Pakap	T	C	4: 57,637,857 (GRCm39)	C12R	unknown	Het
Pde6b	T	A	5: 108,536,592 (GRCm39)	M96K	possibly damaging	Het
Polq	T	A	16: 36,843,159 (GRCm39)	L231Q	probably damaging	Het
Pramel23	T	C	4: 143,423,899 (GRCm39)	I297V	possibly damaging	Het
Prrc2a	G	A	17: 35,378,844 (GRCm39)	T399I	unknown	Het
Rapsn	A	G	2: 90,867,172 (GRCm39)	D158G	probably damaging	Het
Rcor1	T	A	12: 111,047,933 (GRCm39)		probably benign	Het
Sema4d	G	T	13: 51,867,794 (GRCm39)	P186T	probably damaging	Het
Skic2	A	C	17: 35,063,640 (GRCm39)	L601R	probably damaging	Het
Slc4a7	G	A	14: 14,773,241 (GRCm38)	R737Q	probably damaging	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Sox15	T	G	11: 69,546,529 (GRCm39)	Y111D	probably damaging	Het
Spen	C	T	4: 141,200,938 (GRCm39)	C2563Y	probably damaging	Het
Taf8	A	T	17: 47,807,527 (GRCm39)	D153E	probably damaging	Het
Tet3	G	A	6: 83,345,253 (GRCm39)	A1728V	probably damaging	Het
Tmem232	A	T	17: 65,737,778 (GRCm39)	D427E	probably benign	Het
Tmem53	T	C	4: 117,125,451 (GRCm39)	I188T	probably benign	Het
Tnc	T	G	4: 63,935,331 (GRCm39)	D535A	probably benign	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Tnik	G	A	3: 28,692,544 (GRCm39)	G867R	probably damaging	Het
Vmn1r235	G	T	17: 21,481,969 (GRCm39)	S98I	possibly damaging	Het
Vmn2r15	T	C	5: 109,442,109 (GRCm39)	E108G	probably benign	Het
Xrra1	T	A	7: 99,525,462 (GRCm39)	I127N	probably benign	Het
Zc3h18	G	A	8: 123,129,963 (GRCm39)	R447Q	unknown	Het
Zcwpw1	C	A	5: 137,798,340 (GRCm39)	P179Q	probably damaging	Het
Zfp526	C	T	7: 24,925,264 (GRCm39)	H508Y	probably damaging	Het
Zfp583	T	C	7: 6,320,404 (GRCm39)	K203E	probably benign	Het
Zfp979	A	G	4: 147,697,504 (GRCm39)	C402R	possibly damaging	Het
Zxdc	A	G	6: 90,359,254 (GRCm39)	T629A	probably damaging	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
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'- ATAGCCGGAGACTTCATTTGC -3'
(R):5'- CTTACACGTTTGAAGCAGAGAG -3'

Sequencing Primer
(F):5'- CGGAGACTTCATTTGCCTAAATAAAG -3'
(R):5'- GCAACAATAGTTTTCACTATCCAGTC -3'

Posted On

2021-10-11