Mutagenetix > Incidental Mutation

Incidental Mutation 'R0295:Uba3'

37676

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

038512-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0295 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97160631-97182608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97168544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 160 (H160Q)

Ref Sequence

ENSEMBL: ENSMUSP00000086701 (fasta)

Gene Model

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

AlphaFold

Q8C878

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089287
AA Change: H160Q

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000086701
Gene: ENSMUSG00000030061
AA Change: H160Q

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 benign
Transcript: ENSMUST00000164744
AA Change: H146Q

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130954
Gene: ENSMUSG00000030061
AA Change: H146Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204917

Meta Mutation Damage Score

0.1218

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (70/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	G	A	10: 76,290,642 (GRCm39)	S127N	probably damaging	Het
Abcc8	T	C	7: 45,767,478 (GRCm39)	R953G	probably benign	Het
Adamtsl3	T	A	7: 82,197,213 (GRCm39)		probably null	Het
Adh4	A	G	3: 138,134,837 (GRCm39)	D337G	probably damaging	Het
Apob	T	A	12: 8,052,181 (GRCm39)	Y1207*	probably null	Het
Birc6	T	C	17: 74,920,357 (GRCm39)		probably benign	Het
Bms1	A	G	6: 118,366,298 (GRCm39)	I1065T	probably benign	Het
Cacna1i	T	A	15: 80,240,412 (GRCm39)	L378Q	probably damaging	Het
Ccdc127	C	A	13: 74,504,989 (GRCm39)	P179H	probably damaging	Het
Ccdc18	A	T	5: 108,321,655 (GRCm39)	K586N	probably damaging	Het
Cep290	A	C	10: 100,373,683 (GRCm39)	E1321A	probably damaging	Het
Cstpp1	A	T	2: 91,112,939 (GRCm39)	I173N	probably damaging	Het
Ctc1	A	G	11: 68,921,414 (GRCm39)	K682E	possibly damaging	Het
Cux1	A	C	5: 136,342,066 (GRCm39)	V442G	probably benign	Het
Dph2	A	T	4: 117,748,127 (GRCm39)	V150E	possibly damaging	Het
Etv6	A	G	6: 134,243,238 (GRCm39)	D331G	probably benign	Het
Fbxo42	A	G	4: 140,927,808 (GRCm39)	D696G	probably damaging	Het
Fbxo8	G	A	8: 57,043,109 (GRCm39)	D198N	probably benign	Het
Gria4	T	C	9: 4,793,840 (GRCm39)	T73A	possibly damaging	Het
H2aj	C	G	6: 136,785,602 (GRCm39)	R89G	probably damaging	Het
Ifng	G	T	10: 118,277,154 (GRCm39)	S32I	possibly damaging	Het
Ildr1	A	G	16: 36,529,839 (GRCm39)		probably null	Het
Knl1	A	C	2: 118,919,320 (GRCm39)	D1824A	probably damaging	Het
Lamp3	A	T	16: 19,519,858 (GRCm39)	Y108*	probably null	Het
Lcp1	A	G	14: 75,436,860 (GRCm39)	I69V	probably null	Het
Lrp6	A	T	6: 134,434,656 (GRCm39)	V1349E	probably benign	Het
Lrrcc1	A	T	3: 14,630,909 (GRCm39)	E1009D	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Med14	G	C	X: 12,551,987 (GRCm39)	R1223G	probably damaging	Het
Mesd	C	T	7: 83,547,073 (GRCm39)	Q179*	probably null	Het
Myh7	A	G	14: 55,222,278 (GRCm39)		probably benign	Het
Myo6	T	C	9: 80,190,861 (GRCm39)	I804T	probably damaging	Het
Neb	T	C	2: 52,174,297 (GRCm39)	I1521V	possibly damaging	Het
Nosip	T	A	7: 44,726,340 (GRCm39)	I249N	probably damaging	Het
Nostrin	A	C	2: 69,009,760 (GRCm39)	E296A	probably benign	Het
Oprk1	T	C	1: 5,669,073 (GRCm39)	L173S	possibly damaging	Het
Or2n1d	A	T	17: 38,646,182 (GRCm39)	I45F	probably damaging	Het
Or4k36	T	A	2: 111,146,499 (GRCm39)	V225D	probably damaging	Het
Or51v8	T	C	7: 103,319,518 (GRCm39)	H240R	probably damaging	Het
Or5p1	T	G	7: 107,916,892 (GRCm39)	S264A	probably benign	Het
Pdzd7	A	G	19: 45,025,511 (GRCm39)	V328A	probably benign	Het
Podxl2	A	T	6: 88,826,660 (GRCm39)	S215R	probably benign	Het
Prss36	T	G	7: 127,535,027 (GRCm39)	T418P	possibly damaging	Het
Ralgps2	T	A	1: 156,651,555 (GRCm39)		probably benign	Het
Rasa2	T	C	9: 96,427,863 (GRCm39)		probably null	Het
Rgs1	A	T	1: 144,121,224 (GRCm39)	I149N	probably damaging	Het
Rgs16	A	G	1: 153,619,483 (GRCm39)	E163G	probably damaging	Het
Rnf121	A	G	7: 101,684,553 (GRCm39)	F120S	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slfn8	A	T	11: 82,894,169 (GRCm39)	Y823*	probably null	Het
Spdl1	A	T	11: 34,704,170 (GRCm39)	N554K	possibly damaging	Het
St6gal1	T	A	16: 23,174,953 (GRCm39)		probably benign	Het
Tet3	G	A	6: 83,346,121 (GRCm39)	P1304S	probably benign	Het
Timm29	T	C	9: 21,504,372 (GRCm39)		probably null	Het
Tpcn1	T	A	5: 120,677,125 (GRCm39)	I687F	probably damaging	Het
Trim46	A	G	3: 89,152,420 (GRCm39)		probably benign	Het
Ttc23	T	A	7: 67,319,600 (GRCm39)		probably benign	Het
Ttll6	G	T	11: 96,045,540 (GRCm39)	V586L	probably benign	Het
Ttn	A	T	2: 76,588,955 (GRCm39)		probably benign	Het
Usp32	A	G	11: 84,944,518 (GRCm39)	S316P	probably damaging	Het
Vcan	T	C	13: 89,860,310 (GRCm39)	I352M	probably benign	Het
Zcwpw1	G	T	5: 137,815,734 (GRCm39)	L412F	probably damaging	Het
Zfp292	A	T	4: 34,806,281 (GRCm39)	N2254K	probably damaging	Het
Zscan4e	A	G	7: 11,041,543 (GRCm39)	S138P	probably damaging	Het

Other mutations in Uba3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- GCGGTCATTCCAGGCAAAATCACTC -3'
(R):5'- TAGACTGATACAGTCCGTGAGCCC -3'

Sequencing Primer
(F):5'- GGCAAAATCACTCGGGCATTC -3'
(R):5'- TCTGAGACTTGCCTAGGCTA -3'

Posted On

2013-05-23