Mutagenetix > Incidental Mutation

Incidental Mutation 'R0511:Uba6'

46897

Institutional Source

Beutler Lab

Gene Symbol

Uba6

Ensembl Gene

ENSMUSG00000035898

Gene Name

ubiquitin-like modifier activating enzyme 6

Synonyms

Ube1l2, 5730469D23Rik

MMRRC Submission

038705-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0511 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86109287-86172803 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86112750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 990 (Y990C)

Ref Sequence

ENSEMBL: ENSMUSP00000109000 (fasta)

Gene Model

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

AlphaFold

Q8C7R4

Predicted Effect

probably damaging
Transcript: ENSMUST00000039373
AA Change: Y1021C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898
AA Change: Y1021C

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 damaging
Transcript: ENSMUST00000113373
AA Change: Y990C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898
AA Change: Y990C

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

Meta Mutation Damage Score

0.3671

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (116/116)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,254,071 (GRCm38)		probably null	Het
A630095E13Rik	A	T	9: 36,638,577 (GRCm38)		probably null	Het
Abca13	G	T	11: 9,294,559 (GRCm38)	V2141L	probably benign	Het
Adam17	T	C	12: 21,340,458 (GRCm38)		probably benign	Het
Adam3	A	T	8: 24,695,315 (GRCm38)	C456S	probably damaging	Het
AI464131	A	G	4: 41,498,538 (GRCm38)	F364S	probably damaging	Het
Aldh4a1	G	T	4: 139,642,571 (GRCm38)		probably benign	Het
Anapc4	A	G	5: 52,842,017 (GRCm38)		probably benign	Het
Ank3	A	T	10: 69,882,368 (GRCm38)	Q483L	probably damaging	Het
Ankle2	A	G	5: 110,242,059 (GRCm38)		probably benign	Het
Ankrd13b	T	A	11: 77,473,288 (GRCm38)	T150S	possibly damaging	Het
Apeh	A	G	9: 108,087,055 (GRCm38)	M524T	probably benign	Het
Arl14epl	T	A	18: 46,926,417 (GRCm38)		probably null	Het
Atg2a	T	C	19: 6,252,539 (GRCm38)	F964S	possibly damaging	Het
Atg2b	C	T	12: 105,617,153 (GRCm38)	V2050M	probably damaging	Het
Atp2b4	A	T	1: 133,732,218 (GRCm38)		probably benign	Het
Bbof1	T	A	12: 84,430,271 (GRCm38)	S512T	probably benign	Het
BC055324	T	C	1: 163,971,843 (GRCm38)		probably null	Het
C130079G13Rik	A	G	3: 59,936,350 (GRCm38)	H155R	possibly damaging	Het
Camta1	C	A	4: 151,075,140 (GRCm38)	R1614L	probably damaging	Het
Car10	T	C	11: 93,490,582 (GRCm38)	Y100H	probably damaging	Het
Ccdc81	T	A	7: 89,893,296 (GRCm38)	E124V	probably damaging	Het
Cd84	A	G	1: 171,872,927 (GRCm38)	T204A	probably benign	Het
Celf2	A	G	2: 6,604,176 (GRCm38)	S178P	probably damaging	Het
Chat	G	A	14: 32,409,019 (GRCm38)	T555M	probably damaging	Het
Chd6	A	G	2: 160,992,191 (GRCm38)	F917S	probably damaging	Het
Chrna2	C	A	14: 66,149,104 (GRCm38)	T233N	probably damaging	Het
Cnpy2	T	C	10: 128,326,185 (GRCm38)	V109A	probably benign	Het
Col4a1	T	C	8: 11,208,333 (GRCm38)		probably null	Het
Csmd1	C	T	8: 15,932,529 (GRCm38)	V2713M	possibly damaging	Het
Cuedc1	G	A	11: 88,183,405 (GRCm38)	R255Q	probably damaging	Het
Cxcl15	A	T	5: 90,798,038 (GRCm38)		probably benign	Het
Dach1	A	T	14: 97,901,329 (GRCm38)	H559Q	possibly damaging	Het
Dennd4c	C	T	4: 86,826,022 (GRCm38)	T1367M	probably damaging	Het
Depdc5	T	A	5: 32,945,028 (GRCm38)	Y365*	probably null	Het
Dicer1	T	C	12: 104,702,841 (GRCm38)	Y1194C	possibly damaging	Het
Dmxl1	C	G	18: 49,891,467 (GRCm38)	S1736*	probably null	Het
Dnah7a	C	T	1: 53,497,126 (GRCm38)	R2586K	probably benign	Het
Dnajb8	T	C	6: 88,222,485 (GRCm38)	M1T	probably null	Het
Dync2h1	G	A	9: 7,122,692 (GRCm38)	P2088L	probably benign	Het
Eftud2	T	G	11: 102,844,222 (GRCm38)	H617P	probably damaging	Het
Ephb1	A	G	9: 101,995,980 (GRCm38)		probably benign	Het
Fam184a	G	T	10: 53,698,879 (GRCm38)	H155Q	probably benign	Het
Ganc	G	T	2: 120,448,401 (GRCm38)	E700*	probably null	Het
Gm10912	A	G	2: 104,066,945 (GRCm38)		probably benign	Het
Gm9047	G	T	6: 29,478,170 (GRCm38)		probably benign	Het
Haus5	A	T	7: 30,659,067 (GRCm38)	I294N	probably damaging	Het
Hmgcr	G	T	13: 96,660,143 (GRCm38)		probably null	Het
Hr	T	A	14: 70,561,912 (GRCm38)	C641*	probably null	Het
Itga10	A	G	3: 96,658,174 (GRCm38)	N1038S	probably damaging	Het
Itgb1bp1	T	G	12: 21,271,435 (GRCm38)	Y172S	probably damaging	Het
Kprp	T	C	3: 92,824,723 (GRCm38)	N340S	probably damaging	Het
Kremen1	A	G	11: 5,215,447 (GRCm38)	I41T	probably damaging	Het
Krt6b	A	G	15: 101,677,607 (GRCm38)		probably benign	Het
Krt81	C	A	15: 101,463,627 (GRCm38)	R24L	possibly damaging	Het
Ldhd	A	G	8: 111,629,677 (GRCm38)	Y86H	probably benign	Het
Lilra6	A	T	7: 3,912,785 (GRCm38)	I76N	possibly damaging	Het
Mak	T	C	13: 41,046,267 (GRCm38)	T299A	probably benign	Het
Med25	A	G	7: 44,885,078 (GRCm38)		probably null	Het
Mpg	A	T	11: 32,230,039 (GRCm38)	N189I	probably damaging	Het
Mroh8	A	G	2: 157,229,918 (GRCm38)	Y556H	probably damaging	Het
Myh8	T	A	11: 67,284,507 (GRCm38)	S294T	probably benign	Het
Myom1	T	A	17: 71,084,317 (GRCm38)	D842E	probably benign	Het
Nat2	C	T	8: 67,501,330 (GRCm38)	Q31*	probably null	Het
Nf1	T	A	11: 79,438,769 (GRCm38)	M653K	probably benign	Het
Nhs	C	A	X: 161,837,359 (GRCm38)	R1467I	probably damaging	Het
Npr2	A	G	4: 43,632,801 (GRCm38)	E206G	probably benign	Het
Nsd3	G	A	8: 25,678,716 (GRCm38)	G629D	possibly damaging	Het
Nwd1	G	A	8: 72,682,005 (GRCm38)	C831Y	probably damaging	Het
Olfr1094	A	G	2: 86,829,606 (GRCm38)	I285V	probably benign	Het
Olfr584	T	C	7: 103,085,851 (GRCm38)	I111T	probably damaging	Het
P2ry14	A	G	3: 59,116,028 (GRCm38)	S4P	possibly damaging	Het
Parp4	A	G	14: 56,635,715 (GRCm38)		probably benign	Het
Pclo	A	G	5: 14,678,285 (GRCm38)		probably benign	Het
Pclo	T	C	5: 14,679,398 (GRCm38)		probably benign	Het
Pcnt	A	T	10: 76,404,595 (GRCm38)	S1202T	possibly damaging	Het
Pfkfb4	A	G	9: 109,027,757 (GRCm38)	Y412C	probably damaging	Het
Pgm1	T	A	5: 64,110,555 (GRCm38)	V449D	probably damaging	Het
Poldip3	T	A	15: 83,138,235 (GRCm38)	D116V	probably damaging	Het
Pom121	G	T	5: 135,381,832 (GRCm38)	Q824K	unknown	Het
Prkdc	G	T	16: 15,831,282 (GRCm38)	G3707*	probably null	Het
Prr14l	T	C	5: 32,844,216 (GRCm38)		probably benign	Het
Ptbp2	T	G	3: 119,720,964 (GRCm38)	I405L	probably benign	Het
Rad21l	A	T	2: 151,649,069 (GRCm38)		probably benign	Het
Rbm6	G	A	9: 107,847,289 (GRCm38)	Q488*	probably null	Het
Rdh1	T	A	10: 127,764,783 (GRCm38)	M225K	probably benign	Het
Recql5	T	C	11: 115,928,383 (GRCm38)	D119G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Robo1	T	C	16: 73,013,125 (GRCm38)		probably null	Het
Samd12	G	A	15: 53,860,171 (GRCm38)	T42I	probably benign	Het
Scn10a	A	T	9: 119,613,700 (GRCm38)	M1494K	probably damaging	Het
Sec31a	G	A	5: 100,375,240 (GRCm38)	P864L	probably benign	Het
Senp2	T	C	16: 22,036,570 (GRCm38)	V344A	probably benign	Het
Serpina5	G	A	12: 104,103,362 (GRCm38)	D278N	probably benign	Het
Sh3tc1	A	T	5: 35,703,462 (GRCm38)	V1017D	probably damaging	Het
Sin3a	T	A	9: 57,096,895 (GRCm38)	Y310*	probably null	Het
Slc25a32	T	C	15: 39,097,545 (GRCm38)	T248A	probably benign	Het
Slc35e1	T	C	8: 72,492,571 (GRCm38)		probably benign	Het
Slc4a10	G	A	2: 62,286,862 (GRCm38)	V722M	probably damaging	Het
Slco1a4	A	G	6: 141,830,860 (GRCm38)		probably benign	Het
Smg6	T	A	11: 74,929,058 (GRCm38)	Y52N	probably damaging	Het
Sncb	T	G	13: 54,765,587 (GRCm38)	T33P	probably damaging	Het
Spef2	A	G	15: 9,583,984 (GRCm38)		probably null	Het
Sugp1	A	G	8: 70,059,363 (GRCm38)	E203G	probably damaging	Het
Suv39h2	A	T	2: 3,472,579 (GRCm38)	C105S	probably damaging	Het
Tlr1	A	T	5: 64,926,620 (GRCm38)	F205I	probably damaging	Het
Tnip1	A	T	11: 54,917,873 (GRCm38)	M496K	probably damaging	Het
Tnxb	G	A	17: 34,718,245 (GRCm38)	E2889K	probably damaging	Het
Trim30b	T	A	7: 104,365,803 (GRCm38)	H126L	possibly damaging	Het
Trpm7	A	T	2: 126,826,718 (GRCm38)	Y759*	probably null	Het
Ttc17	A	G	2: 94,323,120 (GRCm38)	I1000T	possibly damaging	Het
Ttc27	A	T	17: 74,718,715 (GRCm38)	N61I	probably benign	Het
Vav3	A	G	3: 109,664,440 (GRCm38)		probably benign	Het
Vmn2r55	C	T	7: 12,671,018 (GRCm38)	A153T	possibly damaging	Het
Wars2	A	G	3: 99,216,549 (GRCm38)	D242G	probably damaging	Het
Xylt2	G	A	11: 94,669,936 (GRCm38)	Q259*	probably null	Het
Zfp27	G	A	7: 29,894,522 (GRCm38)	P673S	probably damaging	Het
Zgrf1	T	C	3: 127,584,660 (GRCm38)	I1023T	possibly damaging	Het

Other mutations in Uba6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:Uba6	APN	5	86,119,407 (GRCm38)	missense	possibly damaging	0.51
IGL01294:Uba6	APN	5	86,150,048 (GRCm38)	missense	possibly damaging	0.67
IGL01625:Uba6	APN	5	86,120,529 (GRCm38)	nonsense	probably null
IGL01807:Uba6	APN	5	86,122,411 (GRCm38)	missense	probably damaging	1.00
IGL01919:Uba6	APN	5	86,119,386 (GRCm38)	missense	probably benign	0.01
IGL02131:Uba6	APN	5	86,150,077 (GRCm38)	missense	probably benign	0.18
IGL03107:Uba6	APN	5	86,127,774 (GRCm38)	splice site	probably benign
R0314:Uba6	UTSW	5	86,118,087 (GRCm38)	missense	probably damaging	0.99
R0350:Uba6	UTSW	5	86,144,378 (GRCm38)	missense	possibly damaging	0.48
R0964:Uba6	UTSW	5	86,119,401 (GRCm38)	missense	possibly damaging	0.47
R1086:Uba6	UTSW	5	86,127,719 (GRCm38)	missense	probably benign	0.00
R1440:Uba6	UTSW	5	86,140,423 (GRCm38)	missense	probably damaging	1.00
R1564:Uba6	UTSW	5	86,154,407 (GRCm38)	missense	probably benign
R2377:Uba6	UTSW	5	86,124,370 (GRCm38)	missense	possibly damaging	0.90
R2420:Uba6	UTSW	5	86,132,616 (GRCm38)	critical splice donor site	probably null
R2421:Uba6	UTSW	5	86,132,616 (GRCm38)	critical splice donor site	probably null
R2422:Uba6	UTSW	5	86,132,616 (GRCm38)	critical splice donor site	probably null
R2924:Uba6	UTSW	5	86,159,271 (GRCm38)	missense	probably damaging	1.00
R3723:Uba6	UTSW	5	86,135,047 (GRCm38)	missense	probably damaging	1.00
R3724:Uba6	UTSW	5	86,135,047 (GRCm38)	missense	probably damaging	1.00
R4429:Uba6	UTSW	5	86,120,547 (GRCm38)	missense	probably damaging	0.99
R4590:Uba6	UTSW	5	86,112,744 (GRCm38)	missense	probably damaging	1.00
R4831:Uba6	UTSW	5	86,131,338 (GRCm38)	missense	probably benign
R4908:Uba6	UTSW	5	86,140,434 (GRCm38)	splice site	silent
R5193:Uba6	UTSW	5	86,124,422 (GRCm38)	missense	probably benign	0.12
R5505:Uba6	UTSW	5	86,120,546 (GRCm38)	missense	probably benign	0.09
R5560:Uba6	UTSW	5	86,131,260 (GRCm38)	missense	probably damaging	1.00
R5586:Uba6	UTSW	5	86,135,047 (GRCm38)	missense	probably damaging	1.00
R5589:Uba6	UTSW	5	86,122,429 (GRCm38)	missense	probably damaging	0.99
R5787:Uba6	UTSW	5	86,112,652 (GRCm38)	makesense	probably null
R6255:Uba6	UTSW	5	86,164,765 (GRCm38)	missense	probably benign	0.25
R6512:Uba6	UTSW	5	86,124,403 (GRCm38)	missense	probably benign
R6772:Uba6	UTSW	5	86,147,073 (GRCm38)	critical splice donor site	probably benign
R7536:Uba6	UTSW	5	86,124,332 (GRCm38)	missense	probably benign	0.05
R7571:Uba6	UTSW	5	86,147,111 (GRCm38)	missense	probably benign	0.02
R7609:Uba6	UTSW	5	86,147,075 (GRCm38)	missense	probably benign	0.17
R7768:Uba6	UTSW	5	86,152,920 (GRCm38)	missense	probably benign	0.01
R7839:Uba6	UTSW	5	86,122,412 (GRCm38)	splice site	probably null
R7866:Uba6	UTSW	5	86,172,701 (GRCm38)	missense	probably damaging	0.99
R7894:Uba6	UTSW	5	86,118,065 (GRCm38)	nonsense	probably null
R8063:Uba6	UTSW	5	86,152,685 (GRCm38)	missense	probably benign	0.29
R8276:Uba6	UTSW	5	86,142,650 (GRCm38)	intron	probably benign
R8382:Uba6	UTSW	5	86,131,337 (GRCm38)	missense	probably benign	0.01
R8516:Uba6	UTSW	5	86,127,748 (GRCm38)	missense	possibly damaging	0.78
R8673:Uba6	UTSW	5	86,136,319 (GRCm38)	missense	probably damaging	1.00
R8778:Uba6	UTSW	5	86,112,697 (GRCm38)	missense	possibly damaging	0.54
R8817:Uba6	UTSW	5	86,148,913 (GRCm38)	missense	probably null	0.10
R8822:Uba6	UTSW	5	86,147,073 (GRCm38)	critical splice donor site	probably benign
R8852:Uba6	UTSW	5	86,141,595 (GRCm38)	missense	possibly damaging	0.47
R8887:Uba6	UTSW	5	86,159,202 (GRCm38)	critical splice donor site	probably null
R9108:Uba6	UTSW	5	86,135,075 (GRCm38)	missense	possibly damaging	0.69
R9245:Uba6	UTSW	5	86,170,559 (GRCm38)	missense	probably damaging	1.00
R9511:Uba6	UTSW	5	86,140,360 (GRCm38)	missense	probably damaging	1.00
R9669:Uba6	UTSW	5	86,120,640 (GRCm38)	missense	probably benign	0.05
R9677:Uba6	UTSW	5	86,118,051 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATCATAACCGCAGGGAGCAAC -3'
(R):5'- TCAGAGAGGACACTACAGCGGC -3'

Sequencing Primer
(F):5'- ACTCTAGTAAGTTCCCTACTGATGG -3'
(R):5'- TCTCTAAACTTGGCAGTGAAGG -3'

Posted On

2013-06-11