Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00555:Uba6'

5601

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uba6

Ensembl Gene

ENSMUSG00000035898

Gene Name

ubiquitin-like modifier activating enzyme 6

Synonyms

Ube1l2, 5730469D23Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00555

Quality Score

Status

Chromosome

Chromosomal Location

86258579-86320602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86267266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 921 (F921I)

Ref Sequence

ENSEMBL: ENSMUSP00000109000 (fasta)

Gene Model

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

AlphaFold

Q8C7R4

Predicted Effect

probably benign
Transcript: ENSMUST00000039373
AA Change: F952I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898
AA Change: F952I

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

possibly damaging
Transcript: ENSMUST00000113373
AA Change: F921I

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898
AA Change: F921I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147734

Coding Region Coverage

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	G	12: 21,378,110 (GRCm39)	V692A	probably damaging	Het
Ankrd12	A	G	17: 66,291,971 (GRCm39)	V1154A	probably benign	Het
Asnsd1	T	C	1: 53,385,787 (GRCm39)	N529S	probably damaging	Het
C1ra	T	C	6: 124,499,250 (GRCm39)	F479L	probably benign	Het
Cdh9	T	C	15: 16,823,492 (GRCm39)	F158S	probably damaging	Het
Etaa1	A	T	11: 17,897,535 (GRCm39)	M194K	probably damaging	Het
Flvcr2	A	T	12: 85,794,097 (GRCm39)	I158F	possibly damaging	Het
Mtss1	A	G	15: 58,823,317 (GRCm39)		probably null	Het
Ngf	A	G	3: 102,427,788 (GRCm39)	H179R	probably damaging	Het
Plbd2	A	T	5: 120,623,875 (GRCm39)	M549K	possibly damaging	Het
Shc3	A	G	13: 51,615,379 (GRCm39)	S193P	probably damaging	Het
Tat	A	G	8: 110,725,417 (GRCm39)	T421A	probably benign	Het
Tbcel	G	T	9: 42,354,333 (GRCm39)	T165K	probably benign	Het
Tesl2	A	G	X: 23,824,191 (GRCm39)	I328T	probably benign	Het
Trim44	A	G	2: 102,134,824 (GRCm39)	*346R	probably null	Het

Other mutations in Uba6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9669:Uba6	UTSW	5	86,268,499 (GRCm39)	missense	probably benign	0.05
R9677:Uba6	UTSW	5	86,265,910 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20