Mutagenetix > Incidental Mutation

Incidental Mutation 'R9669:Uba6'

727968

Institutional Source

Beutler Lab

Gene Symbol

Uba6

Ensembl Gene

ENSMUSG00000035898

Gene Name

ubiquitin-like modifier activating enzyme 6

Synonyms

Ube1l2, 5730469D23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9669 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86258579-86320602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86268499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 910 (I910V)

Ref Sequence

ENSEMBL: ENSMUSP00000035328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039373] [ENSMUST00000113373]

AlphaFold

Q8C7R4

Predicted Effect

probably benign
Transcript: ENSMUST00000039373
AA Change: I910V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898
AA Change: I910V

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC
Pfam:ThiF	44	431	8.9e-29	PFAM
Pfam:E1_FCCH	224	293	1.7e-28	PFAM
Pfam:E1_4HB	294	362	9.8e-21	PFAM
internal_repeat_1	443	588	1.25e-6	PROSPERO
Pfam:UBA_e1_thiolCys	631	884	3.7e-80	PFAM
UBA_e1_C	921	1043	1.04e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113373
AA Change: I879V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898
AA Change: I879V

Domain	Start	End	E-Value	Type
Pfam:ThiF	29	167	1.8e-16	PFAM
Pfam:ThiF	428	573	8.5e-34	PFAM
Pfam:UBA_e1_thiolCys	575	619	2.3e-22	PFAM
Pfam:UBACT	817	885	2.9e-28	PFAM
UBA_e1_C	890	1012	1.04e-49	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice homozygous for a conditional allele activated in neurons exhibit decreased weight, postnatal and premature lethality and altered social behavior and neuronal development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp	T	C	2: 168,026,918 (GRCm39)	K126E	possibly damaging	Het
Ankrd35	A	G	3: 96,587,797 (GRCm39)	N112S	probably damaging	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Ccnjl	C	A	11: 43,476,166 (GRCm39)	T263K	probably benign	Het
Cfhr4	A	T	1: 139,708,872 (GRCm39)	I12N	probably damaging	Het
Cox4i2	C	A	2: 152,602,610 (GRCm39)	N101K	probably damaging	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dhx57	T	C	17: 80,553,130 (GRCm39)	I1266V	probably benign	Het
Gm19410	A	G	8: 36,247,493 (GRCm39)	D435G	possibly damaging	Het
Gtf2ird1	A	G	5: 134,408,794 (GRCm39)	Y702H	probably damaging	Het
Igkv10-96	T	C	6: 68,608,957 (GRCm39)	T113A	probably benign	Het
Ngdn	A	G	14: 55,259,339 (GRCm39)	K161R	possibly damaging	Het
Or7d9	T	A	9: 20,197,160 (GRCm39)	L63H	probably damaging	Het
Pabpc4l	A	G	3: 46,401,267 (GRCm39)	S126P	probably damaging	Het
Pcdhgc4	A	G	18: 37,949,241 (GRCm39)	D219G	probably damaging	Het
Plek	A	G	11: 16,944,775 (GRCm39)	F85S	probably benign	Het
Sidt1	A	G	16: 44,102,243 (GRCm39)	Y306H	probably damaging	Het
Trav13-1	A	T	14: 53,782,510 (GRCm39)	T14S	probably benign	Het
Tst	T	C	15: 78,289,853 (GRCm39)	I61V	probably benign	Het
Txndc2	T	C	17: 65,945,583 (GRCm39)	E198G	probably damaging	Het
Zfyve16	A	G	13: 92,656,007 (GRCm39)	V784A	probably damaging	Het
Zkscan5	A	G	5: 145,142,136 (GRCm39)	H11R	probably benign	Het

Other mutations in Uba6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:Uba6	APN	5	86,267,266 (GRCm39)	missense	possibly damaging	0.51
IGL01294:Uba6	APN	5	86,297,907 (GRCm39)	missense	possibly damaging	0.67
IGL01625:Uba6	APN	5	86,268,388 (GRCm39)	nonsense	probably null
IGL01807:Uba6	APN	5	86,270,270 (GRCm39)	missense	probably damaging	1.00
IGL01919:Uba6	APN	5	86,267,245 (GRCm39)	missense	probably benign	0.01
IGL02131:Uba6	APN	5	86,297,936 (GRCm39)	missense	probably benign	0.18
IGL03107:Uba6	APN	5	86,275,633 (GRCm39)	splice site	probably benign
R0314:Uba6	UTSW	5	86,265,946 (GRCm39)	missense	probably damaging	0.99
R0350:Uba6	UTSW	5	86,292,237 (GRCm39)	missense	possibly damaging	0.48
R0511:Uba6	UTSW	5	86,260,609 (GRCm39)	missense	probably damaging	1.00
R0964:Uba6	UTSW	5	86,267,260 (GRCm39)	missense	possibly damaging	0.47
R1086:Uba6	UTSW	5	86,275,578 (GRCm39)	missense	probably benign	0.00
R1440:Uba6	UTSW	5	86,288,282 (GRCm39)	missense	probably damaging	1.00
R1564:Uba6	UTSW	5	86,302,266 (GRCm39)	missense	probably benign
R2377:Uba6	UTSW	5	86,272,229 (GRCm39)	missense	possibly damaging	0.90
R2420:Uba6	UTSW	5	86,280,475 (GRCm39)	critical splice donor site	probably null
R2421:Uba6	UTSW	5	86,280,475 (GRCm39)	critical splice donor site	probably null
R2422:Uba6	UTSW	5	86,280,475 (GRCm39)	critical splice donor site	probably null
R2924:Uba6	UTSW	5	86,307,130 (GRCm39)	missense	probably damaging	1.00
R3723:Uba6	UTSW	5	86,282,906 (GRCm39)	missense	probably damaging	1.00
R3724:Uba6	UTSW	5	86,282,906 (GRCm39)	missense	probably damaging	1.00
R4429:Uba6	UTSW	5	86,268,406 (GRCm39)	missense	probably damaging	0.99
R4590:Uba6	UTSW	5	86,260,603 (GRCm39)	missense	probably damaging	1.00
R4831:Uba6	UTSW	5	86,279,197 (GRCm39)	missense	probably benign
R4908:Uba6	UTSW	5	86,288,293 (GRCm39)	splice site	silent
R5193:Uba6	UTSW	5	86,272,281 (GRCm39)	missense	probably benign	0.12
R5505:Uba6	UTSW	5	86,268,405 (GRCm39)	missense	probably benign	0.09
R5560:Uba6	UTSW	5	86,279,119 (GRCm39)	missense	probably damaging	1.00
R5586:Uba6	UTSW	5	86,282,906 (GRCm39)	missense	probably damaging	1.00
R5589:Uba6	UTSW	5	86,270,288 (GRCm39)	missense	probably damaging	0.99
R5787:Uba6	UTSW	5	86,260,511 (GRCm39)	makesense	probably null
R6255:Uba6	UTSW	5	86,312,624 (GRCm39)	missense	probably benign	0.25
R6512:Uba6	UTSW	5	86,272,262 (GRCm39)	missense	probably benign
R6772:Uba6	UTSW	5	86,294,932 (GRCm39)	critical splice donor site	probably benign
R7536:Uba6	UTSW	5	86,272,191 (GRCm39)	missense	probably benign	0.05
R7571:Uba6	UTSW	5	86,294,970 (GRCm39)	missense	probably benign	0.02
R7609:Uba6	UTSW	5	86,294,934 (GRCm39)	missense	probably benign	0.17
R7768:Uba6	UTSW	5	86,300,779 (GRCm39)	missense	probably benign	0.01
R7839:Uba6	UTSW	5	86,270,271 (GRCm39)	splice site	probably null
R7866:Uba6	UTSW	5	86,320,560 (GRCm39)	missense	probably damaging	0.99
R7894:Uba6	UTSW	5	86,265,924 (GRCm39)	nonsense	probably null
R8063:Uba6	UTSW	5	86,300,544 (GRCm39)	missense	probably benign	0.29
R8276:Uba6	UTSW	5	86,290,509 (GRCm39)	intron	probably benign
R8382:Uba6	UTSW	5	86,279,196 (GRCm39)	missense	probably benign	0.01
R8516:Uba6	UTSW	5	86,275,607 (GRCm39)	missense	possibly damaging	0.78
R8673:Uba6	UTSW	5	86,284,178 (GRCm39)	missense	probably damaging	1.00
R8778:Uba6	UTSW	5	86,260,556 (GRCm39)	missense	possibly damaging	0.54
R8817:Uba6	UTSW	5	86,296,772 (GRCm39)	missense	probably null	0.10
R8822:Uba6	UTSW	5	86,294,932 (GRCm39)	critical splice donor site	probably benign
R8852:Uba6	UTSW	5	86,289,454 (GRCm39)	missense	possibly damaging	0.47
R8887:Uba6	UTSW	5	86,307,061 (GRCm39)	critical splice donor site	probably null
R9108:Uba6	UTSW	5	86,282,934 (GRCm39)	missense	possibly damaging	0.69
R9245:Uba6	UTSW	5	86,318,418 (GRCm39)	missense	probably damaging	1.00
R9511:Uba6	UTSW	5	86,288,219 (GRCm39)	missense	probably damaging	1.00
R9677:Uba6	UTSW	5	86,265,910 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTGGGTCCTGAAATAGTAGG -3'
(R):5'- CTTCATGTTGTACCAACCAAGTTTG -3'

Sequencing Primer
(F):5'- GAGATGAAACCCAGTATGTTTCC -3'
(R):5'- GTTCAGTCCTCAGCTCTGGTAG -3'

Posted On

2022-10-06