Mutagenetix > Incidental Mutation

Incidental Mutation 'R5560:Uba6'

436510

Institutional Source

Beutler Lab

Gene Symbol

Uba6

Ensembl Gene

ENSMUSG00000035898

Gene Name

ubiquitin-like modifier activating enzyme 6

Synonyms

Ube1l2, 5730469D23Rik

MMRRC Submission

043117-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5560 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86258579-86320602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86279119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 668 (C668S)

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: C699S

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

SMART Domains

Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898
AA Change: C699S

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: C668S

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

SMART Domains

Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898
AA Change: C668S

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

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.8%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adipor1	T	C	1: 134,353,778 (GRCm39)	W188R	possibly damaging	Het
Agrn	T	C	4: 156,262,954 (GRCm39)	D441G	probably damaging	Het
Ankrd55	T	C	13: 112,520,024 (GRCm39)	S570P	probably benign	Het
Ano9	C	G	7: 140,690,395 (GRCm39)	G80R	probably damaging	Het
Arhgef2	T	A	3: 88,541,744 (GRCm39)	V250E	probably damaging	Het
Atp2b2	T	C	6: 113,751,319 (GRCm39)	D583G	possibly damaging	Het
Bcar3	T	A	3: 122,220,224 (GRCm39)	D40E	possibly damaging	Het
Capn12	A	G	7: 28,582,285 (GRCm39)	D133G	probably benign	Het
Ccna1	A	T	3: 54,955,990 (GRCm39)	Y269N	probably damaging	Het
Cct6b	A	T	11: 82,632,239 (GRCm39)	Y250N	probably damaging	Het
Cep112	A	C	11: 108,328,061 (GRCm39)	K98Q	probably damaging	Het
Chst13	T	C	6: 90,295,251 (GRCm39)	D54G	probably damaging	Het
Clstn2	G	T	9: 97,351,872 (GRCm39)	H518N	possibly damaging	Het
Cntnap1	T	A	11: 101,073,261 (GRCm39)	L581M	probably damaging	Het
Cog3	T	A	14: 75,966,833 (GRCm39)	M446L	probably damaging	Het
Dennd2c	T	A	3: 103,068,871 (GRCm39)	I756K	probably damaging	Het
Dennd3	T	G	15: 73,404,744 (GRCm39)	L273R	probably damaging	Het
Dhx34	C	A	7: 15,952,466 (GRCm39)	R53L	probably benign	Het
Dnah9	G	A	11: 65,772,566 (GRCm39)	T3722I	probably benign	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dusp6	A	G	10: 99,102,103 (GRCm39)	Y217C	probably damaging	Het
Dync2i1	T	C	12: 116,181,733 (GRCm39)	S769G	probably damaging	Het
Dyrk1b	G	A	7: 27,883,678 (GRCm39)	R178Q	possibly damaging	Het
Eif4g1	T	A	16: 20,505,645 (GRCm39)	C1009S	probably benign	Het
Frmpd1	A	T	4: 45,243,697 (GRCm39)	T57S	probably damaging	Het
Gask1a	T	C	9: 121,807,289 (GRCm39)	F478L	possibly damaging	Het
Gjc2	A	G	11: 59,068,185 (GRCm39)	V99A	possibly damaging	Het
Gm9955	A	T	18: 24,842,149 (GRCm39)		probably benign	Het
Gpr158	A	G	2: 21,831,101 (GRCm39)	I734V	possibly damaging	Het
H1f2	A	G	13: 23,923,390 (GRCm39)	S187G	probably benign	Het
Herc1	A	T	9: 66,358,401 (GRCm39)	H2494L	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmgcs1	A	G	13: 120,161,351 (GRCm39)		probably null	Het
Invs	A	T	4: 48,416,084 (GRCm39)	T655S	probably benign	Het
Ipo9	G	A	1: 135,329,983 (GRCm39)	L486F	probably damaging	Het
Katnip	T	C	7: 125,453,733 (GRCm39)	V1150A	probably benign	Het
Kcnj6	A	T	16: 94,633,824 (GRCm39)	L96M	probably benign	Het
Lfng	A	G	5: 140,600,022 (GRCm39)	D354G	possibly damaging	Het
Lgsn	T	C	1: 31,235,953 (GRCm39)	L139P	probably damaging	Het
Madd	C	A	2: 90,993,890 (GRCm39)	V923L	probably damaging	Het
Mical1	A	T	10: 41,354,961 (GRCm39)	I157F	probably damaging	Het
Mis18bp1	T	C	12: 65,199,590 (GRCm39)	N154S	possibly damaging	Het
Mrps14	A	G	1: 160,023,105 (GRCm39)	K6R	probably benign	Het
Mug1	T	A	6: 121,838,032 (GRCm39)	C421S	probably damaging	Het
Myo18b	A	G	5: 113,016,161 (GRCm39)	I696T	probably damaging	Het
Naf1	T	C	8: 67,336,197 (GRCm39)	Y375H	probably damaging	Het
Nsf	T	A	11: 103,754,081 (GRCm39)	E485V	possibly damaging	Het
Nup188	A	G	2: 30,199,897 (GRCm39)	D307G	probably damaging	Het
Ocel1	C	A	8: 71,825,122 (GRCm39)	P108T	probably damaging	Het
Oip5	A	G	2: 119,443,540 (GRCm39)	S177P	probably damaging	Het
Omg	A	G	11: 79,392,584 (GRCm39)	W425R	possibly damaging	Het
Or1ad8	A	C	11: 50,898,350 (GRCm39)	I184L	possibly damaging	Het
Or1l4	A	G	2: 37,091,942 (GRCm39)	I230V	probably benign	Het
Or5an10	G	A	19: 12,276,008 (GRCm39)	Q163*	probably null	Het
Or8g26	A	C	9: 39,095,480 (GRCm39)	E2A	probably benign	Het
Pikfyve	A	G	1: 65,292,566 (GRCm39)	Y1339C	probably damaging	Het
Polr3e	A	G	7: 120,522,172 (GRCm39)	D6G	possibly damaging	Het
Pou4f3	C	A	18: 42,528,480 (GRCm39)	P141Q	probably benign	Het
Rcsd1	T	A	1: 165,483,070 (GRCm39)	N337I	possibly damaging	Het
Rhoj	C	T	12: 75,438,486 (GRCm39)	P91S	probably damaging	Het
Rnf10	A	G	5: 115,388,057 (GRCm39)	F367S	probably damaging	Het
Rnft1	A	T	11: 86,384,022 (GRCm39)	R307S	probably benign	Het
Ryr3	A	T	2: 112,585,222 (GRCm39)	F2788Y	probably damaging	Het
Scgb1c1	A	G	7: 140,426,137 (GRCm39)	K78E	possibly damaging	Het
Scn5a	G	T	9: 119,389,352 (GRCm39)	A123E	probably damaging	Het
Setd2	T	A	9: 110,378,907 (GRCm39)	Y623*	probably null	Het
Slc49a3	A	T	5: 108,596,729 (GRCm39)	M1K	probably null	Het
Spmap2l	A	G	5: 77,164,333 (GRCm39)	D112G	possibly damaging	Het
Tbl2	C	T	5: 135,186,445 (GRCm39)	Q216*	probably null	Het
Tnc	A	G	4: 63,926,946 (GRCm39)	I860T	probably damaging	Het
Trafd1	T	C	5: 121,511,366 (GRCm39)	K484R	possibly damaging	Het
Trank1	T	C	9: 111,219,635 (GRCm39)	V2124A	probably damaging	Het
Trpm4	A	T	7: 44,959,756 (GRCm39)	W713R	probably damaging	Het
Uap1l1	T	C	2: 25,252,688 (GRCm39)	T451A	probably benign	Het
Ubxn11	T	C	4: 133,853,935 (GRCm39)	F441S	probably damaging	Het
Vmn1r22	C	T	6: 57,877,723 (GRCm39)	V85M	probably damaging	Het
Vmn2r72	T	A	7: 85,401,150 (GRCm39)	I90L	probably damaging	Het
Zfp330	T	C	8: 83,491,585 (GRCm39)	E196G	probably benign	Het
Zfp746	A	G	6: 48,059,108 (GRCm39)	V167A	possibly damaging	Het
Zfp994	T	C	17: 22,420,694 (GRCm39)	E85G	possibly 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
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
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'- AGTCAGTGCATAGATGACAAGTC -3'
(R):5'- GTCCGTTAGTCACTTTGGATCG -3'

Sequencing Primer
(F):5'- GGTCATATGCCTAGGAGCTACTC -3'
(R):5'- AGTCACTTTGGATCGTCCTTTTG -3'

Posted On

2016-10-24