Mutagenetix > Incidental Mutation

Incidental Mutation 'R1806:Uba3'

203459

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

039835-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1806 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97160631-97182608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97176230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 92 (V92A)

Ref Sequence

ENSEMBL: ENSMUSP00000130954 (fasta)

Gene Model

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

AlphaFold

Q8C878

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089287
AA Change: V106A

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000086701
Gene: ENSMUSG00000030061
AA Change: V106A

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

possibly damaging
Transcript: ENSMUST00000164744
AA Change: V92A

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130954
Gene: ENSMUSG00000030061
AA Change: V92A

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

0.5427

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

96% (77/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	C	3: 59,784,571 (GRCm39)	L348P	probably damaging	Het
Adamts15	C	A	9: 30,816,111 (GRCm39)	C616F	probably damaging	Het
Adarb1	T	C	10: 77,158,099 (GRCm39)	N116S	probably damaging	Het
Add2	C	T	6: 86,095,639 (GRCm39)	S437L	probably damaging	Het
Adra1d	T	A	2: 131,388,069 (GRCm39)	R495S	probably benign	Het
Agk	C	T	6: 40,364,429 (GRCm39)	T309I	probably damaging	Het
Aqr	T	C	2: 113,992,133 (GRCm39)	Y81C	probably damaging	Het
Bak1	G	A	17: 27,240,242 (GRCm39)	Q142*	probably null	Het
Bckdha	A	G	7: 25,330,845 (GRCm39)	V307A	probably damaging	Het
Camk2n2	C	A	16: 20,438,948 (GRCm39)	G72V	probably benign	Het
Cd276	A	T	9: 58,434,845 (GRCm39)		probably benign	Het
Cd2ap	G	A	17: 43,149,649 (GRCm39)	Q122*	probably null	Het
Cdan1	T	A	2: 120,561,907 (GRCm39)		probably benign	Het
Cdh3	T	C	8: 107,263,547 (GRCm39)	S156P	probably benign	Het
Chil4	T	A	3: 106,117,959 (GRCm39)		probably benign	Het
Col11a1	C	T	3: 113,951,791 (GRCm39)	R1074C	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Fcrlb	T	C	1: 170,735,096 (GRCm39)	T344A	probably benign	Het
Fras1	T	A	5: 96,861,829 (GRCm39)		probably benign	Het
Fras1	G	T	5: 96,912,835 (GRCm39)	V3380F	possibly damaging	Het
Galnt9	A	G	5: 110,767,119 (GRCm39)	D530G	possibly damaging	Het
Gja10	A	T	4: 32,601,135 (GRCm39)	S416R	probably benign	Het
Gm10549	T	A	18: 33,603,841 (GRCm39)	V108E	unknown	Het
Hook3	A	T	8: 26,558,687 (GRCm39)	L59Q	probably damaging	Het
Hpf1	T	A	8: 61,353,154 (GRCm39)	D178E	probably benign	Het
Hsd17b7	T	C	1: 169,788,698 (GRCm39)	N173S	possibly damaging	Het
Hsph1	A	G	5: 149,553,454 (GRCm39)	F236L	probably damaging	Het
Kcnk12	G	T	17: 88,053,537 (GRCm39)	T375K	probably benign	Het
Klra3	A	T	6: 130,304,033 (GRCm39)	S220T	probably damaging	Het
Lhx1	A	T	11: 84,414,967 (GRCm39)	L12Q	probably damaging	Het
Lnx1	A	G	5: 74,766,710 (GRCm39)	L468P	probably damaging	Het
Ltbp3	T	A	19: 5,803,970 (GRCm39)	C827*	probably null	Het
Mical1	C	T	10: 41,354,210 (GRCm39)	A53V	probably damaging	Het
Mmp10	A	T	9: 7,506,502 (GRCm39)	H326L	probably benign	Het
Mpl	A	T	4: 118,300,729 (GRCm39)	M600K	possibly damaging	Het
Muc5b	T	A	7: 141,419,230 (GRCm39)	D4004E	possibly damaging	Het
Myo5b	A	T	18: 74,710,680 (GRCm39)	H98L	possibly damaging	Het
Nbeal1	A	G	1: 60,323,251 (GRCm39)	T2110A	probably damaging	Het
Nedd4l	C	A	18: 65,345,862 (GRCm39)	R825S	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or4k35	A	T	2: 111,100,622 (GRCm39)	I30N	possibly damaging	Het
Or52e19	T	A	7: 102,959,432 (GRCm39)	L168Q	probably damaging	Het
Or8k41	A	T	2: 86,313,483 (GRCm39)	I201N	probably damaging	Het
Otog	A	T	7: 45,940,361 (GRCm39)		probably null	Het
Parp2	T	A	14: 51,056,836 (GRCm39)	L320H	probably damaging	Het
Poglut3	T	C	9: 53,307,150 (GRCm39)	Y365H	probably damaging	Het
Pola2	C	T	19: 5,993,250 (GRCm39)		probably null	Het
Poln	A	T	5: 34,264,494 (GRCm39)		probably benign	Het
Pomt1	T	A	2: 32,131,680 (GRCm39)	V123E	probably damaging	Het
Prom2	T	C	2: 127,374,802 (GRCm39)	Y578C	probably damaging	Het
Prss23	T	C	7: 89,159,599 (GRCm39)	T157A	probably damaging	Het
Sdk1	T	A	5: 141,598,950 (GRCm39)	V205E	probably damaging	Het
Sdk1	A	G	5: 142,147,681 (GRCm39)	K1771R	probably benign	Het
Sidt1	A	T	16: 44,102,234 (GRCm39)	S309T	possibly damaging	Het
Sirpa	T	A	2: 129,457,432 (GRCm39)	F169I	probably damaging	Het
Slc8a1	T	C	17: 81,955,916 (GRCm39)	N374S	probably damaging	Het
Sp110	C	T	1: 85,523,831 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,509,934 (GRCm39)		probably null	Het
Synpr	A	G	14: 13,563,082 (GRCm38)	N105S	probably damaging	Het
Tbc1d16	T	C	11: 119,046,927 (GRCm39)	Y440C	probably damaging	Het
Trabd	A	G	15: 88,969,824 (GRCm39)	I313V	possibly damaging	Het
Trappc10	T	C	10: 78,046,610 (GRCm39)	R430G	probably damaging	Het
Trim50	A	G	5: 135,387,743 (GRCm39)	E145G	probably benign	Het
Uba2	A	T	7: 33,862,624 (GRCm39)	F105I	probably damaging	Het
Uhmk1	T	C	1: 170,038,628 (GRCm39)	K153R	probably damaging	Het
Vmn2r3	T	C	3: 64,194,810 (GRCm39)	K8R	possibly damaging	Het
Vmn2r3	T	A	3: 64,182,893 (GRCm39)	M269L	probably benign	Het
Xpot	G	T	10: 121,443,543 (GRCm39)		probably benign	Het
Zfp128	A	G	7: 12,624,949 (GRCm39)	Y439C	probably benign	Het
Zfy1	T	A	Y: 725,620 (GRCm39)	H715L	possibly damaging	Het
Zmym1	A	C	4: 126,941,872 (GRCm39)	L839V	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
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
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'- GGGTTTCTAGCACTCTCACAG -3'
(R):5'- AGGACTTAAACCTGAGTGCTTG -3'

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

Posted On

2014-06-23