Mutagenetix > Incidental Mutation

Incidental Mutation 'R2422:Uba6'

249362

Institutional Source

Beutler Lab

Gene Symbol

Uba6

Ensembl Gene

ENSMUSG00000035898

Gene Name

ubiquitin-like modifier activating enzyme 6

Synonyms

Ube1l2, 5730469D23Rik

MMRRC Submission

040384-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86109287-86172803 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 86132616 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109000 (fasta)

Gene Model

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

AlphaFold

Q8C7R4

Predicted Effect

probably null
Transcript: ENSMUST00000039373

SMART Domains

Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898

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 null
Transcript: ENSMUST00000113373

SMART Domains

Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,591,520 (GRCm38)	N47I	probably benign	Het
Actr5	T	C	2: 158,636,081 (GRCm38)	F457S	probably damaging	Het
Adamts3	A	G	5: 89,683,175 (GRCm38)	S1007P	probably damaging	Het
Adck2	C	T	6: 39,583,998 (GRCm38)	A440V	possibly damaging	Het
Birc6	T	A	17: 74,660,614 (GRCm38)	L301Q	probably damaging	Het
Ccdc121rt3	A	T	5: 112,355,118 (GRCm38)	V240D	probably damaging	Het
Ccdc18	A	C	5: 108,228,588 (GRCm38)	E1298D	probably damaging	Het
Ccdc77	A	G	6: 120,339,159 (GRCm38)	C186R	probably benign	Het
Cdk12	T	G	11: 98,219,074 (GRCm38)	S640R	probably benign	Het
Cdv3	T	C	9: 103,365,118 (GRCm38)		probably benign	Het
Celf2	G	A	2: 6,553,889 (GRCm38)	T364I	probably damaging	Het
Cmtr2	C	A	8: 110,222,781 (GRCm38)	S574R	probably benign	Het
Col14a1	T	C	15: 55,449,922 (GRCm38)	L56P	unknown	Het
Cracdl	C	A	1: 37,613,475 (GRCm38)	V1084L	probably benign	Het
Dctn1	C	T	6: 83,199,800 (GRCm38)	L1241F	possibly damaging	Het
Depdc5	T	C	5: 32,991,035 (GRCm38)	F1505S	probably damaging	Het
Dhcr24	G	T	4: 106,561,094 (GRCm38)		probably benign	Het
Dnajc21	A	G	15: 10,461,935 (GRCm38)	S127P	probably benign	Het
Entpd7	A	T	19: 43,728,088 (GRCm38)	Y507F	possibly damaging	Het
Fbp1	T	C	13: 62,871,306 (GRCm38)	K24E	probably benign	Het
Galr1	A	T	18: 82,405,923 (GRCm38)	N76K	probably damaging	Het
Glrb	A	G	3: 80,860,235 (GRCm38)	I226T	probably damaging	Het
Gm17421	T	A	12: 113,369,487 (GRCm38)		noncoding transcript	Het
Gm4950	T	A	18: 51,865,784 (GRCm38)	Q33L	probably benign	Het
Gnat2	A	T	3: 108,095,539 (GRCm38)	M88L	probably damaging	Het
Gpr183	A	G	14: 121,954,177 (GRCm38)	Y311H	probably damaging	Het
H2-M10.5	A	G	17: 36,774,999 (GRCm38)	I308V	probably benign	Het
Hipk3	C	T	2: 104,471,485 (GRCm38)	G121R	probably benign	Het
Hjurp	A	G	1: 88,266,561 (GRCm38)		probably benign	Het
Homez	C	A	14: 54,857,574 (GRCm38)	V226F	probably benign	Het
Inf2	C	A	12: 112,610,824 (GRCm38)	A1034D	unknown	Het
Kcnc4	G	T	3: 107,445,547 (GRCm38)	P572T	probably benign	Het
Kmt2d	T	C	15: 98,862,266 (GRCm38)	E1037G	unknown	Het
Krt78	T	C	15: 101,947,264 (GRCm38)	E704G	probably damaging	Het
Lama1	A	T	17: 67,750,553 (GRCm38)	M541L	probably benign	Het
Lmbrd2	C	T	15: 9,194,765 (GRCm38)	T618M	possibly damaging	Het
Ly6g6e	G	A	17: 35,078,146 (GRCm38)	R121Q	probably benign	Het
Mettl22	T	C	16: 8,487,361 (GRCm38)	F293L	probably damaging	Het
Mib1	T	C	18: 10,751,906 (GRCm38)	S263P	probably damaging	Het
Ndufaf1	T	C	2: 119,655,737 (GRCm38)	E298G	probably damaging	Het
Nek1	T	C	8: 61,019,901 (GRCm38)	V152A	probably damaging	Het
Nlrp4d	T	A	7: 10,362,945 (GRCm38)	D876V	probably benign	Het
Or10d5	A	G	9: 39,950,528 (GRCm38)	L81P	possibly damaging	Het
Or11g7	T	C	14: 50,453,436 (GRCm38)	L128P	probably damaging	Het
Or5an11	A	T	19: 12,268,919 (GRCm38)	T230S	probably damaging	Het
Or5k15	T	C	16: 58,889,965 (GRCm38)	E85G	probably benign	Het
Pcdha11	G	T	18: 37,007,272 (GRCm38)	L651F	probably damaging	Het
Plekhg1	G	A	10: 3,958,048 (GRCm38)	M988I	probably benign	Het
Plxnb1	G	A	9: 109,108,438 (GRCm38)	R1169H	probably benign	Het
Ppp4r3a	A	G	12: 101,042,653 (GRCm38)		probably benign	Het
Pum2	A	T	12: 8,748,931 (GRCm38)	Q930L	possibly damaging	Het
Rbp4	T	C	19: 38,124,344 (GRCm38)	E67G	probably damaging	Het
Rgs9	C	A	11: 109,225,777 (GRCm38)		probably null	Het
Semp2l1	C	T	1: 32,545,861 (GRCm38)	A323T	possibly damaging	Het
Sipa1	A	T	19: 5,652,112 (GRCm38)	D923E	possibly damaging	Het
Smc1a	A	G	X: 152,047,975 (GRCm38)		probably benign	Het
Snx33	C	A	9: 56,918,538 (GRCm38)	M546I	probably benign	Het
Spag17	T	A	3: 100,027,619 (GRCm38)	W714R	probably benign	Het
Spata2	C	T	2: 167,484,206 (GRCm38)	R231Q	probably damaging	Het
Stard9	C	T	2: 120,700,284 (GRCm38)	R2341C	probably benign	Het
Tas2r116	A	T	6: 132,855,594 (GRCm38)	I53F	possibly damaging	Het
Tlk1	T	C	2: 70,770,005 (GRCm38)	E110G	probably damaging	Het
Tmem102	T	A	11: 69,804,537 (GRCm38)	E203V	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562 (GRCm38)		probably benign	Het
Ttc23l	G	A	15: 10,537,566 (GRCm38)	S206L	probably benign	Het
Tyw5	A	G	1: 57,396,748 (GRCm38)	I82T	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm38)	P46S	probably benign	Het
Unc13c	T	C	9: 73,931,547 (GRCm38)	Y674C	probably damaging	Het
Vmn2r105	T	A	17: 20,227,835 (GRCm38)	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,086,532 (GRCm38)	Y605H	probably benign	Het
Wdr77	A	T	3: 105,960,021 (GRCm38)	K62*	probably null	Het
Zfhx4	C	A	3: 5,390,405 (GRCm38)	A1153E	probably benign	Het
Zfp266	C	A	9: 20,499,262 (GRCm38)	V540L	possibly damaging	Het
Zfp638	C	A	6: 83,966,439 (GRCm38)		probably benign	Het
Zfp644	A	G	5: 106,637,244 (GRCm38)	M479T	possibly damaging	Het
Zfp951	G	A	5: 104,815,277 (GRCm38)	T141I	probably benign	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
R0511:Uba6	UTSW	5	86,112,750 (GRCm38)	missense	probably damaging	1.00
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
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'- CTGTAAGACATCTTCTGCAGAGGG -3'
(R):5'- TTCAACAGGTTAAATGGCCAAG -3'

Sequencing Primer
(F):5'- ACATCTTCTGCAGAGGGATATGC -3'
(R):5'- CAGGTTAAATGGCCAAGAAATTAAC -3'

Posted On

2014-11-12