Mutagenetix > Incidental Mutation

Incidental Mutation 'R4831:Uba6'

372797

Institutional Source

Beutler Lab

Gene Symbol

Uba6

Ensembl Gene

ENSMUSG00000035898

Gene Name

ubiquitin-like modifier activating enzyme 6

Synonyms

Ube1l2, 5730469D23Rik

MMRRC Submission

042447-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4831 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86258579-86320602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86279197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 642 (I642L)

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: I673L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898
AA Change: I673L

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: I642L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898
AA Change: I642L

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

Meta Mutation Damage Score

0.0713

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (96/97)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	C	T	11: 69,791,403 (GRCm39)	V59I	possibly damaging	Het
4930544M13Rik	T	G	13: 114,744,183 (GRCm39)		noncoding transcript	Het
Abca13	A	T	11: 9,492,077 (GRCm39)	K4373*	probably null	Het
Abtb2	A	T	2: 103,513,820 (GRCm39)	T410S	probably benign	Het
Adamts13	T	C	2: 26,873,142 (GRCm39)		probably null	Het
Ahnak2	C	G	12: 112,742,183 (GRCm39)	D630H	probably damaging	Het
Aox3	T	C	1: 58,191,725 (GRCm39)	S426P	probably damaging	Het
Atxn10	C	T	15: 85,271,260 (GRCm39)	S266F	probably benign	Het
B4galnt4	G	T	7: 140,647,634 (GRCm39)	M407I	probably damaging	Het
B4galnt4	T	A	7: 140,644,470 (GRCm39)		probably null	Het
Bclaf1	T	A	10: 20,197,872 (GRCm39)		probably benign	Het
C4b	C	T	17: 34,955,864 (GRCm39)		probably null	Het
Cdc42bpg	T	C	19: 6,361,365 (GRCm39)	F297S	probably damaging	Het
Cdh10	A	T	15: 19,013,664 (GRCm39)	T755S	probably benign	Het
Ceacam12	T	A	7: 17,811,305 (GRCm39)		probably null	Het
Cfap65	C	A	1: 74,956,454 (GRCm39)	V1042F	possibly damaging	Het
Cfap77	T	C	2: 28,875,844 (GRCm39)	I89V	probably benign	Het
Cfh	T	C	1: 140,014,125 (GRCm39)	D688G	probably benign	Het
Clip1	C	G	5: 123,721,664 (GRCm39)	A1182P	probably damaging	Het
Cyp2b10	T	A	7: 25,614,921 (GRCm39)	Y309*	probably null	Het
Dcaf5	T	C	12: 80,385,858 (GRCm39)	E756G	probably benign	Het
Dctn1	A	T	6: 83,176,753 (GRCm39)	Q1231L	possibly damaging	Het
Dennd1c	T	A	17: 57,373,428 (GRCm39)	R682*	probably null	Het
Eml6	C	A	11: 29,727,052 (GRCm39)	E1319*	probably null	Het
Erap1	T	C	13: 74,838,766 (GRCm39)	I904T	probably damaging	Het
Eri1	A	T	8: 35,943,673 (GRCm39)	I207N	possibly damaging	Het
Farp1	G	A	14: 121,514,469 (GRCm39)	A933T	probably damaging	Het
Fcna	T	A	2: 25,515,353 (GRCm39)	Q210L	probably benign	Het
Fhad1	A	T	4: 141,643,378 (GRCm39)		probably null	Het
Fut8	T	G	12: 77,440,603 (GRCm39)	Y197D	probably damaging	Het
Garem1	G	A	18: 21,262,825 (GRCm39)	T663I	probably benign	Het
Gfm2	T	C	13: 97,301,546 (GRCm39)	S450P	probably damaging	Het
Gstk1	T	G	6: 42,222,938 (GRCm39)		probably benign	Het
Helz2	C	T	2: 180,879,210 (GRCm39)	A803T	probably damaging	Het
Igsf9	T	A	1: 172,319,455 (GRCm39)	I280N	probably damaging	Het
Klhl10	A	G	11: 100,336,669 (GRCm39)	K219E	probably benign	Het
L3mbtl4	T	A	17: 68,768,558 (GRCm39)	V222D	probably damaging	Het
Lrrc9	A	T	12: 72,546,453 (GRCm39)	N1214Y	probably damaging	Het
Ltbp2	C	T	12: 84,840,414 (GRCm39)	E1051K	possibly damaging	Het
Mettl17	T	C	14: 52,122,440 (GRCm39)	F13S	probably benign	Het
Mettl24	C	A	10: 40,559,413 (GRCm39)	A21D	possibly damaging	Het
Mfsd6l	T	A	11: 68,447,331 (GRCm39)	C61S	probably benign	Het
Mob4	T	G	1: 55,191,899 (GRCm39)	D204E	probably benign	Het
Mtus1	C	G	8: 41,536,189 (GRCm39)	R509T	probably damaging	Het
Nlrp4a	T	A	7: 26,149,844 (GRCm39)	F484I	possibly damaging	Het
Nsrp1	T	C	11: 76,941,444 (GRCm39)	N88S	probably benign	Het
Odad2	G	T	18: 7,222,564 (GRCm39)	H568Q	possibly damaging	Het
Or10d5	C	T	9: 39,861,408 (GRCm39)	V220I	probably benign	Het
Or2g25	T	A	17: 37,970,969 (GRCm39)	H85L	probably benign	Het
Or51b6b	T	C	7: 103,309,678 (GRCm39)	T260A	probably benign	Het
Or6c2	T	A	10: 129,362,449 (GRCm39)	Y118N	probably damaging	Het
Parg	A	G	14: 31,924,408 (GRCm39)	N69S	probably benign	Het
Pcdh9	A	C	14: 94,125,377 (GRCm39)	N264K	probably damaging	Het
Pcdhb22	G	T	18: 37,653,615 (GRCm39)	L694F	probably damaging	Het
Pcnt	T	C	10: 76,248,335 (GRCm39)	E928G	probably damaging	Het
Pdzk1	G	A	3: 96,775,751 (GRCm39)	G373D	probably benign	Het
Pea15a	A	G	1: 172,026,740 (GRCm39)	I89T	probably damaging	Het
Phc1	T	A	6: 122,313,964 (GRCm39)		probably benign	Het
Pikfyve	T	A	1: 65,235,900 (GRCm39)	C191S	probably damaging	Het
Pitpnm1	T	A	19: 4,158,130 (GRCm39)	D573E	probably damaging	Het
Pld5	A	G	1: 176,102,450 (GRCm39)		probably benign	Het
Plscr2	A	T	9: 92,173,130 (GRCm39)	N89I	possibly damaging	Het
Pm20d2	A	C	4: 33,179,293 (GRCm39)	N315K	probably damaging	Het
Pnpla1	T	A	17: 29,097,518 (GRCm39)	M228K	probably benign	Het
Prim2	T	C	1: 33,709,217 (GRCm39)		probably benign	Het
Ralgapa2	A	G	2: 146,246,987 (GRCm39)		probably benign	Het
Rgs22	G	T	15: 36,050,294 (GRCm39)	H719N	probably benign	Het
Ror2	C	T	13: 53,272,880 (GRCm39)	D250N	probably damaging	Het
Saal1	A	G	7: 46,349,071 (GRCm39)	V281A	probably benign	Het
Selenof	A	T	3: 144,296,411 (GRCm39)	K94N	probably damaging	Het
Slamf9	T	A	1: 172,304,831 (GRCm39)	C148*	probably null	Het
Slc4a7	T	C	14: 14,772,699 (GRCm38)		probably null	Het
Slco1a5	A	G	6: 142,180,431 (GRCm39)	I657T	probably benign	Het
St3gal2	A	T	8: 111,684,480 (GRCm39)	H46L	probably benign	Het
Sucnr1	T	G	3: 59,994,069 (GRCm39)	M199R	probably damaging	Het
Taok1	T	A	11: 77,444,500 (GRCm39)	E525V	probably null	Het
Tbc1d10c	T	A	19: 4,235,445 (GRCm39)	E298V	probably damaging	Het
Tll2	T	A	19: 41,118,951 (GRCm39)	H259L	probably damaging	Het
Tpcn1	A	T	5: 120,691,554 (GRCm39)	F300Y	probably damaging	Het
Ubqln5	T	A	7: 103,778,829 (GRCm39)		probably benign	Het
Vmn1r27	A	T	6: 58,192,827 (GRCm39)	L9Q	possibly damaging	Het
Vmn2r100	C	T	17: 19,741,672 (GRCm39)	T128I	probably benign	Het
Vmn2r109	C	T	17: 20,761,494 (GRCm39)	G621D	probably benign	Het
Vmn2r49	C	T	7: 9,720,352 (GRCm39)	D380N	probably benign	Het
Vps13a	C	T	19: 16,655,356 (GRCm39)	V1891I	probably benign	Het
Wbp2	G	T	11: 115,971,463 (GRCm39)	Y147*	probably null	Het
Wdr46	T	A	17: 34,160,810 (GRCm39)	N191K	probably benign	Het
Wdr46	T	C	17: 34,168,373 (GRCm39)		probably benign	Het
Wnt2	A	C	6: 18,023,285 (GRCm39)	F121L	probably benign	Het
Xpnpep1	T	A	19: 53,003,053 (GRCm39)	D100V	probably benign	Het
Xpo4	T	C	14: 57,827,559 (GRCm39)	Y879C	probably damaging	Het
Zswim4	A	T	8: 84,938,948 (GRCm39)	V978D	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TGGTCATATGCCTAGGAGCTAC -3'
(R):5'- AGTCTAAAATTCCAGTTACTATTCCCC -3'

Sequencing Primer
(F):5'- ATGCCTAGGAGCTACTCTCATTTAAC -3'
(R):5'- GTCACTTTGGATCGTCCTT -3'

Posted On

2016-03-01