Mutagenetix > Incidental Mutation

Incidental Mutation 'R5580:Ube3b'

438375

Institutional Source

Beutler Lab

Gene Symbol

Ube3b

Ensembl Gene

ENSMUSG00000029577

Gene Name

ubiquitin protein ligase E3B

Synonyms

MMRRC Submission

043134-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5580 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114380607-114421169 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114415323 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 919 (T919A)

Ref Sequence

ENSEMBL: ENSMUSP00000073652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074002] [ENSMUST00000130169]

AlphaFold

Q9ES34

Predicted Effect

probably benign
Transcript: ENSMUST00000074002
AA Change: T919A

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

SMART Domains

Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
AA Change: T919A

Domain	Start	End	E-Value	Type
IQ	28	50	1.17e-2	SMART
low complexity region	310	327	N/A	INTRINSIC
low complexity region	412	428	N/A	INTRINSIC
low complexity region	470	488	N/A	INTRINSIC
HECTc	697	1070	2.15e-110	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130169

SMART Domains

Protein: ENSMUSP00000138723
Gene: ENSMUSG00000029577

Domain	Start	End	E-Value	Type
IQ	28	50	1.17e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150630

Predicted Effect

probably benign
Transcript: ENSMUST00000196651

SMART Domains

Protein: ENSMUSP00000143455
Gene: ENSMUSG00000029577

Domain	Start	End	E-Value	Type
HECTc	122	495	1.1e-112	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit preweaning lethality, reduced fertility, decreased growth, reduced grip strength, impaired hearing, eye inflammation and decreased cholesterol level. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	T	13: 59,742,256 (GRCm38)	D583E	probably benign	Het
2410002F23Rik	A	G	7: 44,251,240 (GRCm38)	T73A	possibly damaging	Het
A1bg	A	T	15: 60,919,032 (GRCm38)	V365E	probably benign	Het
Abcg5	A	C	17: 84,660,154 (GRCm38)	V406G	probably damaging	Het
Adamts12	A	G	15: 11,152,000 (GRCm38)	Y192C	probably benign	Het
Add3	C	T	19: 53,245,211 (GRCm38)	S649L	probably damaging	Het
Adgrg6	A	T	10: 14,410,484 (GRCm38)	C1129*	probably null	Het
Arsb	T	A	13: 93,807,545 (GRCm38)	V248D	probably damaging	Het
AW554918	A	T	18: 25,339,865 (GRCm38)	N39I	probably damaging	Het
Cacna1b	A	T	2: 24,650,554 (GRCm38)	I1383N	probably damaging	Het
Caprin2	A	T	6: 148,858,734 (GRCm38)	V625D	possibly damaging	Het
Cd9	A	G	6: 125,464,457 (GRCm38)	L67P	probably damaging	Het
Cdh5	T	A	8: 104,125,494 (GRCm38)	Y80*	probably null	Het
Csf2ra	A	G	19: 61,226,217 (GRCm38)	L223P	probably damaging	Het
Cyp2c67	T	C	19: 39,615,650 (GRCm38)	K421E	probably damaging	Het
Dzank1	T	C	2: 144,506,178 (GRCm38)	R223G	probably damaging	Het
Emilin2	A	G	17: 71,275,230 (GRCm38)	V167A	probably benign	Het
Eps8l3	A	G	3: 107,881,603 (GRCm38)	T81A	probably damaging	Het
Esrra	T	C	19: 6,920,387 (GRCm38)	M1V	probably null	Het
Evpl	C	A	11: 116,234,232 (GRCm38)	A135S	probably benign	Het
Fam193a	A	G	5: 34,420,788 (GRCm38)	I209V	probably benign	Het
Fbxl19	C	A	7: 127,750,996 (GRCm38)	C253*	probably null	Het
Fer1l5	T	A	1: 36,385,458 (GRCm38)	Y305*	probably null	Het
Fzd2	A	C	11: 102,605,839 (GRCm38)	I370L	probably damaging	Het
Gm8882	T	C	6: 132,361,469 (GRCm38)	N262S	unknown	Het
Gnl3	T	C	14: 31,015,285 (GRCm38)	K212R	probably benign	Het
Golm1	A	G	13: 59,642,365 (GRCm38)	L207P	probably benign	Het
Gphn	T	A	12: 78,492,044 (GRCm38)	F155I	probably damaging	Het
Grhl1	G	A	12: 24,609,740 (GRCm38)	G500S	probably benign	Het
Gucd1	C	A	10: 75,511,134 (GRCm38)	G55V	possibly damaging	Het
Haus6	A	T	4: 86,599,266 (GRCm38)	I287K	possibly damaging	Het
Hmcn1	G	A	1: 150,577,539 (GRCm38)	P5342S	probably benign	Het
Hspa12a	A	G	19: 58,799,660 (GRCm38)	S577P	probably benign	Het
Ido2	T	A	8: 24,550,866 (GRCm38)	I113F	possibly damaging	Het
Ifrd2	C	T	9: 107,592,312 (GRCm38)	P396S	probably damaging	Het
Igkv4-86	T	A	6: 68,911,006 (GRCm38)		probably benign	Het
Ipo11	A	G	13: 106,900,747 (GRCm38)	V196A	probably benign	Het
Itih2	T	C	2: 10,123,476 (GRCm38)	E138G	probably damaging	Het
Kidins220	T	G	12: 25,047,897 (GRCm38)	C1179G	probably benign	Het
Kif20b	T	A	19: 34,949,728 (GRCm38)		probably null	Het
Klk1	T	A	7: 44,228,814 (GRCm38)	Y63N	probably benign	Het
L3mbtl3	T	G	10: 26,303,706 (GRCm38)	D517A	unknown	Het
Lars	G	T	18: 42,214,851 (GRCm38)	P969H	probably damaging	Het
Lrp1	C	T	10: 127,588,520 (GRCm38)	V766I	probably benign	Het
Lrrc8c	A	G	5: 105,607,687 (GRCm38)	I443V	probably benign	Het
Lsg1	T	C	16: 30,569,167 (GRCm38)	M439V	probably null	Het
Magi2	T	A	5: 20,215,424 (GRCm38)	M286K	probably benign	Het
Med11	T	C	11: 70,452,065 (GRCm38)		probably null	Het
Med13l	A	G	5: 118,751,630 (GRCm38)	K1819E	possibly damaging	Het
Ms4a14	T	A	19: 11,303,226 (GRCm38)	Q656L	probably benign	Het
Muc5b	A	G	7: 141,861,347 (GRCm38)	T2677A	possibly damaging	Het
Myo7a	A	T	7: 98,073,160 (GRCm38)	L1186H	probably damaging	Het
Naca	C	A	10: 128,040,593 (GRCm38)		probably benign	Het
Nbeal1	T	C	1: 60,242,602 (GRCm38)	I828T	probably benign	Het
Ncor1	A	T	11: 62,389,778 (GRCm38)	C75*	probably null	Het
Nepn	A	C	10: 52,404,302 (GRCm38)	S497R	probably damaging	Het
Nf2	A	G	11: 4,803,689 (GRCm38)	F222L	probably damaging	Het
Nlrp9b	A	C	7: 20,023,164 (GRCm38)	T109P	probably damaging	Het
Nr1h4	A	T	10: 89,516,440 (GRCm38)	F22I	probably benign	Het
Ogg1	A	G	6: 113,329,376 (GRCm38)	Y178C	probably damaging	Het
Olfr1162	A	T	2: 88,050,324 (GRCm38)	M100K	possibly damaging	Het
Olfr1271	C	A	2: 90,266,350 (GRCm38)	V27L	probably benign	Het
Olfr1444	G	A	19: 12,861,804 (GRCm38)	V10M	possibly damaging	Het
Olfr1475	T	A	19: 13,479,427 (GRCm38)	Y257F	probably damaging	Het
Olfr381	G	T	11: 73,486,210 (GRCm38)	P205T	probably benign	Het
Osr1	G	A	12: 9,579,325 (GRCm38)	R66Q	probably damaging	Het
Pi4ka	A	G	16: 17,281,087 (GRCm38)	S1978P	probably damaging	Het
Pik3c2g	A	T	6: 139,626,533 (GRCm38)	Q239L	probably damaging	Het
Pin1rt1	A	G	2: 104,714,325 (GRCm38)	I154T	probably damaging	Het
Pkdcc	A	G	17: 83,220,082 (GRCm38)	T230A	probably damaging	Het
Por	A	T	5: 135,733,821 (GRCm38)	I430F	probably damaging	Het
Prkcsh	T	A	9: 22,011,255 (GRCm38)		probably null	Het
Pros1	A	G	16: 62,926,326 (GRCm38)		probably null	Het
Pus10	T	A	11: 23,672,556 (GRCm38)	L59I	probably benign	Het
Pxmp2	A	G	5: 110,283,676 (GRCm38)	V67A	possibly damaging	Het
Rab3gap1	C	A	1: 127,930,990 (GRCm38)	A612E	probably benign	Het
Rpap2	A	G	5: 107,620,145 (GRCm38)	E206G	probably benign	Het
Rpl31	C	T	1: 39,370,027 (GRCm38)	R41C	probably benign	Het
Ryr3	C	T	2: 112,841,948 (GRCm38)	G1393R	probably damaging	Het
Scara5	T	C	14: 65,731,079 (GRCm38)	M267T	probably benign	Het
Sema5a	A	T	15: 32,574,885 (GRCm38)	I380F	probably benign	Het
Slc36a3	A	G	11: 55,135,453 (GRCm38)	S180P	probably benign	Het
Slc44a5	A	G	3: 154,261,285 (GRCm38)	K536R	probably benign	Het
Smg1	T	C	7: 118,148,902 (GRCm38)		probably benign	Het
Strc	T	C	2: 121,375,012 (GRCm38)	K879R	probably damaging	Het
Swt1	T	C	1: 151,384,455 (GRCm38)	E731G	probably benign	Het
Syngap1	G	A	17: 26,962,331 (GRCm38)	A9T	probably damaging	Het
Tex15	C	T	8: 33,572,429 (GRCm38)	T903I	probably damaging	Het
Tg	A	G	15: 66,685,300 (GRCm38)	I937V	possibly damaging	Het
Tm9sf4	T	C	2: 153,182,430 (GRCm38)	Y58H	probably damaging	Het
Tsen2	A	T	6: 115,577,980 (GRCm38)	D458V	probably damaging	Het
Ttn	T	A	2: 76,917,802 (GRCm38)	D4301V	probably benign	Het
Txk	C	A	5: 72,707,589 (GRCm38)	L314F	probably damaging	Het
Ubn2	A	G	6: 38,483,252 (GRCm38)	M641V	probably damaging	Het
Usp4	C	T	9: 108,365,859 (GRCm38)	T242I	probably benign	Het
Usp53	A	G	3: 122,934,234 (GRCm38)	S900P	probably benign	Het
Vmn1r225	T	C	17: 20,502,839 (GRCm38)	Y181H	probably damaging	Het
Vmn1r83	T	A	7: 12,321,873 (GRCm38)	I86L	probably benign	Het
Vmn2r65	T	C	7: 84,947,594 (GRCm38)	I84M	probably damaging	Het
Vstm2b	A	G	7: 40,902,626 (GRCm38)	H126R	probably damaging	Het
Zfp524	A	T	7: 5,018,417 (GRCm38)	I315F	probably benign	Het
Zfp975	A	T	7: 42,665,089 (GRCm38)	L20*	probably null	Het

Other mutations in Ube3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Ube3b	APN	5	114,415,287 (GRCm38)	missense	possibly damaging	0.93
IGL01154:Ube3b	APN	5	114,406,252 (GRCm38)	missense	probably null	0.86
IGL02632:Ube3b	APN	5	114,398,841 (GRCm38)	missense	probably benign
IGL02850:Ube3b	APN	5	114,406,249 (GRCm38)	missense	probably damaging	1.00
IGL02878:Ube3b	APN	5	114,404,717 (GRCm38)	splice site	probably null
IGL02881:Ube3b	APN	5	114,412,884 (GRCm38)	missense	possibly damaging	0.78
R0003:Ube3b	UTSW	5	114,398,851 (GRCm38)	missense	probably benign	0.17
R0071:Ube3b	UTSW	5	114,419,497 (GRCm38)	missense	probably damaging	1.00
R0071:Ube3b	UTSW	5	114,419,497 (GRCm38)	missense	probably damaging	1.00
R0076:Ube3b	UTSW	5	114,408,217 (GRCm38)	critical splice donor site	probably null
R0076:Ube3b	UTSW	5	114,408,217 (GRCm38)	critical splice donor site	probably null
R0111:Ube3b	UTSW	5	114,390,376 (GRCm38)	splice site	probably benign
R0309:Ube3b	UTSW	5	114,419,469 (GRCm38)	splice site	probably benign
R0718:Ube3b	UTSW	5	114,402,555 (GRCm38)	nonsense	probably null
R1344:Ube3b	UTSW	5	114,418,575 (GRCm38)	missense	probably damaging	1.00
R1350:Ube3b	UTSW	5	114,406,137 (GRCm38)	splice site	probably null
R1418:Ube3b	UTSW	5	114,418,575 (GRCm38)	missense	probably damaging	1.00
R1732:Ube3b	UTSW	5	114,387,445 (GRCm38)	missense	probably benign	0.01
R1764:Ube3b	UTSW	5	114,404,617 (GRCm38)	missense	possibly damaging	0.89
R1975:Ube3b	UTSW	5	114,399,865 (GRCm38)	missense	possibly damaging	0.80
R2014:Ube3b	UTSW	5	114,411,149 (GRCm38)	missense	probably damaging	1.00
R2015:Ube3b	UTSW	5	114,411,149 (GRCm38)	missense	probably damaging	1.00
R2041:Ube3b	UTSW	5	114,387,233 (GRCm38)	missense	probably damaging	0.99
R2074:Ube3b	UTSW	5	114,415,255 (GRCm38)	missense	probably benign	0.14
R2202:Ube3b	UTSW	5	114,389,074 (GRCm38)	missense	probably damaging	1.00
R2205:Ube3b	UTSW	5	114,389,074 (GRCm38)	missense	probably damaging	1.00
R3826:Ube3b	UTSW	5	114,399,951 (GRCm38)	missense	probably damaging	0.99
R3829:Ube3b	UTSW	5	114,399,951 (GRCm38)	missense	probably damaging	0.99
R3830:Ube3b	UTSW	5	114,399,951 (GRCm38)	missense	probably damaging	0.99
R3927:Ube3b	UTSW	5	114,415,680 (GRCm38)	missense	probably benign	0.03
R3974:Ube3b	UTSW	5	114,412,430 (GRCm38)	missense	probably benign	0.05
R4049:Ube3b	UTSW	5	114,412,870 (GRCm38)	missense	probably benign	0.09
R4096:Ube3b	UTSW	5	114,393,086 (GRCm38)	missense	possibly damaging	0.65
R4261:Ube3b	UTSW	5	114,398,428 (GRCm38)	missense	possibly damaging	0.80
R4415:Ube3b	UTSW	5	114,412,444 (GRCm38)	missense	probably damaging	1.00
R4688:Ube3b	UTSW	5	114,393,078 (GRCm38)	missense	probably benign	0.03
R4779:Ube3b	UTSW	5	114,404,717 (GRCm38)	splice site	probably null
R4824:Ube3b	UTSW	5	114,415,726 (GRCm38)	splice site	probably null
R4868:Ube3b	UTSW	5	114,398,427 (GRCm38)	missense	probably benign	0.00
R4953:Ube3b	UTSW	5	114,401,410 (GRCm38)	missense	probably benign	0.01
R5013:Ube3b	UTSW	5	114,407,641 (GRCm38)	missense	probably damaging	1.00
R5057:Ube3b	UTSW	5	114,406,257 (GRCm38)	missense	probably benign	0.01
R5117:Ube3b	UTSW	5	114,419,631 (GRCm38)	missense	probably damaging	0.96
R5131:Ube3b	UTSW	5	114,407,546 (GRCm38)	missense	probably damaging	1.00
R5498:Ube3b	UTSW	5	114,418,574 (GRCm38)	missense	probably damaging	1.00
R5564:Ube3b	UTSW	5	114,389,075 (GRCm38)	missense	probably damaging	1.00
R5572:Ube3b	UTSW	5	114,406,179 (GRCm38)	missense	probably damaging	0.99
R5596:Ube3b	UTSW	5	114,406,160 (GRCm38)	splice site	probably null
R5843:Ube3b	UTSW	5	114,412,299 (GRCm38)	missense	probably damaging	1.00
R5910:Ube3b	UTSW	5	114,415,309 (GRCm38)	missense	possibly damaging	0.63
R6591:Ube3b	UTSW	5	114,408,124 (GRCm38)	missense	probably benign	0.00
R6691:Ube3b	UTSW	5	114,408,124 (GRCm38)	missense	probably benign	0.00
R7148:Ube3b	UTSW	5	114,406,252 (GRCm38)	missense	probably damaging	0.97
R7334:Ube3b	UTSW	5	114,415,681 (GRCm38)	missense	possibly damaging	0.64
R7438:Ube3b	UTSW	5	114,418,626 (GRCm38)	missense	probably damaging	1.00
R7438:Ube3b	UTSW	5	114,415,284 (GRCm38)	missense	possibly damaging	0.79
R7640:Ube3b	UTSW	5	114,415,323 (GRCm38)	missense	probably benign
R7825:Ube3b	UTSW	5	114,401,312 (GRCm38)	missense	probably damaging	1.00
R7958:Ube3b	UTSW	5	114,401,423 (GRCm38)	missense	probably benign	0.05
R8025:Ube3b	UTSW	5	114,408,209 (GRCm38)	missense	probably damaging	0.99
R8058:Ube3b	UTSW	5	114,406,785 (GRCm38)	missense	possibly damaging	0.58
R8087:Ube3b	UTSW	5	114,412,489 (GRCm38)	critical splice donor site	probably null
R8182:Ube3b	UTSW	5	114,392,138 (GRCm38)	missense	possibly damaging	0.77
R8322:Ube3b	UTSW	5	114,402,686 (GRCm38)	missense	probably benign	0.04
R8465:Ube3b	UTSW	5	114,390,390 (GRCm38)	missense	probably damaging	1.00
R8682:Ube3b	UTSW	5	114,412,290 (GRCm38)	missense	probably damaging	1.00
R8708:Ube3b	UTSW	5	114,393,090 (GRCm38)	missense	probably benign	0.34
R8758:Ube3b	UTSW	5	114,415,200 (GRCm38)	critical splice acceptor site	probably benign
R8784:Ube3b	UTSW	5	114,388,739 (GRCm38)	missense	probably damaging	1.00
R9058:Ube3b	UTSW	5	114,415,239 (GRCm38)	missense	probably benign	0.05
R9072:Ube3b	UTSW	5	114,404,546 (GRCm38)	missense	probably damaging	0.98
R9116:Ube3b	UTSW	5	114,404,776 (GRCm38)	intron	probably benign
R9537:Ube3b	UTSW	5	114,387,184 (GRCm38)	missense	probably damaging	1.00
R9596:Ube3b	UTSW	5	114,389,110 (GRCm38)	missense	probably damaging	1.00
R9632:Ube3b	UTSW	5	114,415,309 (GRCm38)	missense	probably benign	0.00
R9710:Ube3b	UTSW	5	114,415,309 (GRCm38)	missense	probably benign	0.00
X0017:Ube3b	UTSW	5	114,415,585 (GRCm38)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- GGCTCATCTCTTAGCATGCTTG -3'
(R):5'- TGGGCTGTCATCAGGATACCAG -3'

Sequencing Primer
(F):5'- TAGCCAGCTCATCCCAGTG -3'
(R):5'- GGATACCAGAGTCACTCTATGTCAG -3'

Posted On

2016-10-26