Mutagenetix > Incidental Mutation

Incidental Mutation 'R8887:Uba6'

677394

Institutional Source

Beutler Lab

Gene Symbol

Uba6

Ensembl Gene

ENSMUSG00000035898

Gene Name

ubiquitin-like modifier activating enzyme 6

Synonyms

Ube1l2, 5730469D23Rik

MMRRC Submission

068752-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86258579-86320602 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 86307061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035328 (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 benign
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

Meta Mutation Damage Score

0.9497

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

98% (93/95)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	T	C	17: 57,175,285 (GRCm39)	T76A	probably benign	Het
Actn1	A	G	12: 80,215,197 (GRCm39)	C860R	probably damaging	Het
Adam23	T	A	1: 63,554,744 (GRCm39)	L170Q	probably damaging	Het
Afdn	C	T	17: 14,116,401 (GRCm39)	R1620*	probably null	Het
Agfg1	A	G	1: 82,848,525 (GRCm39)		probably benign	Het
Aire	A	G	10: 77,870,298 (GRCm39)	S476P	probably damaging	Het
Arhgef26	A	G	3: 62,247,401 (GRCm39)	T162A	probably benign	Het
Atp1a2	T	C	1: 172,113,222 (GRCm39)	Q487R	probably null	Het
BC048507	T	A	13: 68,011,628 (GRCm39)	C2S	probably benign	Het
Bltp1	G	T	3: 37,087,503 (GRCm39)	A615S	possibly damaging	Het
Bnc2	A	C	4: 84,209,707 (GRCm39)		probably benign	Het
Bop1	C	T	15: 76,338,524 (GRCm39)	G473R	probably damaging	Het
C1galt1	A	G	6: 7,866,379 (GRCm39)	E75G	probably benign	Het
Cacna1i	T	C	15: 80,258,894 (GRCm39)	V1201A	possibly damaging	Het
Cecr2	C	A	6: 120,715,162 (GRCm39)	T249K	probably damaging	Het
Clca3a2	C	A	3: 144,790,810 (GRCm39)	G421*	probably null	Het
Clec1b	A	T	6: 129,378,703 (GRCm39)		probably null	Het
Cnksr3	C	T	10: 7,104,467 (GRCm39)	D79N	probably damaging	Het
Col15a1	A	G	4: 47,287,091 (GRCm39)	Q843R	probably damaging	Het
Col6a3	T	C	1: 90,755,948 (GRCm39)	S114G	probably benign	Het
Corin	A	T	5: 72,486,953 (GRCm39)		probably null	Het
Cyp2u1	A	G	3: 131,096,503 (GRCm39)	Y92H	probably damaging	Het
Dcbld2	T	C	16: 58,229,270 (GRCm39)	L51P	probably damaging	Het
Dip2c	T	A	13: 9,673,989 (GRCm39)		probably benign	Het
Dlc1	A	T	8: 37,051,481 (GRCm39)	V299E	probably benign	Het
Dlgap2	G	A	8: 14,229,682 (GRCm39)		probably null	Het
Dnah1	A	G	14: 31,032,997 (GRCm39)	L346P	probably damaging	Het
Dnah9	T	C	11: 65,746,210 (GRCm39)	T3968A	probably benign	Het
Duox2	A	C	2: 122,120,044 (GRCm39)	M822R	probably null	Het
E2f7	A	T	10: 110,610,674 (GRCm39)	Q433L	probably benign	Het
Eif3k	A	C	7: 28,679,901 (GRCm39)	Y42*	probably null	Het
Elmod3	A	G	6: 72,563,494 (GRCm39)	S45P	probably damaging	Het
Emilin3	C	A	2: 160,751,108 (GRCm39)	V214F	possibly damaging	Het
Fbxo10	A	T	4: 45,058,887 (GRCm39)	F283L	probably benign	Het
Fbxw7	T	C	3: 84,876,549 (GRCm39)	Y358H		Het
G430095P16Rik	A	G	8: 85,453,043 (GRCm39)	N10S	unknown	Het
Gldc	A	G	19: 30,111,156 (GRCm39)	V540A	possibly damaging	Het
Gm3667	T	A	14: 18,271,553 (GRCm39)	E67D	probably benign	Het
Golga3	T	A	5: 110,353,626 (GRCm39)		probably benign	Het
H60c	T	C	10: 3,217,255 (GRCm39)	E38G	probably benign	Het
Hectd4	A	G	5: 121,433,541 (GRCm39)	D952G	probably benign	Het
Hoxb8	T	A	11: 96,175,223 (GRCm39)	L220Q	probably damaging	Het
Ice1	A	T	13: 70,751,050 (GRCm39)	L1679M	probably damaging	Het
Ifi202b	T	A	1: 173,802,480 (GRCm39)	Y118F	probably damaging	Het
Ift122	A	T	6: 115,868,880 (GRCm39)	T456S	probably benign	Het
Ighg3	G	A	12: 113,323,845 (GRCm39)	T181I		Het
Ighv1-66	C	A	12: 115,557,032 (GRCm39)	V17F	probably damaging	Het
Ighv5-12-4	A	G	12: 113,726,130 (GRCm39)	V31A	possibly damaging	Het
Ints12	T	A	3: 132,815,003 (GRCm39)	N403K	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kalrn	A	C	16: 34,047,496 (GRCm39)	N908K	probably benign	Het
Kctd9	G	A	14: 67,962,016 (GRCm39)	V20I	unknown	Het
Krt78	G	T	15: 101,861,746 (GRCm39)	L167M	probably damaging	Het
Ldb1	T	C	19: 46,023,294 (GRCm39)	E206G	probably damaging	Het
Lig1	A	G	7: 13,030,713 (GRCm39)	Y455C	probably damaging	Het
Ltbp1	T	G	17: 75,486,077 (GRCm39)	I34S	probably damaging	Het
Map2	T	C	1: 66,454,758 (GRCm39)	I1216T	possibly damaging	Het
Mex3c	T	C	18: 73,706,800 (GRCm39)	V229A	probably damaging	Het
Mfsd11	T	C	11: 116,745,526 (GRCm39)		probably null	Het
Mroh1	A	G	15: 76,331,474 (GRCm39)	T1233A	probably benign	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Nipbl	A	T	15: 8,391,271 (GRCm39)	H234Q	probably damaging	Het
Npc1l1	G	A	11: 6,175,665 (GRCm39)	P549S	probably damaging	Het
Or12d2	A	T	17: 37,624,642 (GRCm39)	L211Q	probably damaging	Het
Or4c3	A	G	2: 89,852,269 (GRCm39)	V47A	probably benign	Het
Or5h22	A	T	16: 58,894,846 (GRCm39)	V199D	possibly damaging	Het
Or5w22	A	G	2: 87,363,187 (GRCm39)	D270G	possibly damaging	Het
Or6c3b	A	T	10: 129,527,372 (GRCm39)	Y179*	probably null	Het
Padi3	A	T	4: 140,523,795 (GRCm39)	C228*	probably null	Het
Palld	T	A	8: 61,986,512 (GRCm39)	D1015V	unknown	Het
Pcna-ps2	A	T	19: 9,261,488 (GRCm39)	Y249F	probably benign	Het
Pelo	C	T	13: 115,225,451 (GRCm39)	C258Y	probably benign	Het
Ppp1r13b	A	T	12: 111,803,430 (GRCm39)		probably benign	Het
Pramel26	A	G	4: 143,539,257 (GRCm39)	F79L	probably damaging	Het
Prdm2	A	G	4: 142,860,771 (GRCm39)	W840R	probably damaging	Het
Prkcg	A	G	7: 3,370,857 (GRCm39)	D428G	possibly damaging	Het
Pus7	G	A	5: 23,948,476 (GRCm39)	R571*	probably null	Het
Rab11fip3	A	G	17: 26,286,927 (GRCm39)	C409R	possibly damaging	Het
Rdh13	T	C	7: 4,434,522 (GRCm39)	D186G	probably damaging	Het
Rslcan18	T	A	13: 67,246,793 (GRCm39)	H273L	probably damaging	Het
Rxfp1	T	A	3: 79,559,289 (GRCm39)		probably benign	Het
Sh3bp1	T	A	15: 78,788,540 (GRCm39)		probably null	Het
Siglecg	T	A	7: 43,058,008 (GRCm39)	S9T	probably benign	Het
Slc9a1	T	C	4: 133,139,258 (GRCm39)	F159L	probably benign	Het
Slc9a2	A	G	1: 40,758,009 (GRCm39)	I183V	probably benign	Het
St6galnac4	A	G	2: 32,484,110 (GRCm39)	M103V	probably damaging	Het
Tbc1d30	T	C	10: 121,187,059 (GRCm39)	D42G	possibly damaging	Het
Tlr5	C	A	1: 182,801,332 (GRCm39)	T212K	probably benign	Het
Trim43b	T	G	9: 88,969,642 (GRCm39)	I269L	probably benign	Het
Ttll6	T	C	11: 96,047,492 (GRCm39)	L697P	possibly damaging	Het
Ttn	T	G	2: 76,549,239 (GRCm39)	T31813P	probably damaging	Het
Ttn	A	T	2: 76,571,932 (GRCm39)	D26320E	probably damaging	Het
Usp1	C	G	4: 98,819,185 (GRCm39)	Q216E	probably benign	Het
Vcan	T	C	13: 89,853,026 (GRCm39)	T645A	probably benign	Het
Wdr64	C	A	1: 175,599,850 (GRCm39)	P559H	probably benign	Het
Zfat	T	C	15: 68,056,315 (GRCm39)	Y247C	probably damaging	Het
Zfp979	A	T	4: 147,698,219 (GRCm39)	N163K	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
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
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'- GCTAAATACCTTTCTTACGTCAACGAG -3'
(R):5'- GTCTGTGCTTACCTACAGTATACTTAG -3'

Sequencing Primer
(F):5'- CTTACGTCAACGAGTTCTTAGAAC -3'
(R):5'- AGGTCCTTCTTATGTTCAGTGTC -3'

Posted On

2021-08-02