Mutagenetix > Incidental Mutation

Incidental Mutation 'R5809:Ubr3'

448885

Institutional Source

Beutler Lab

Gene Symbol

Ubr3

Ensembl Gene

ENSMUSG00000044308

Gene Name

ubiquitin protein ligase E3 component n-recognin 3

Synonyms

1110059H15Rik, 4833421P10Rik, A130030D10Rik, Zfp650

MMRRC Submission

043394-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69727590-69854357 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69795855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 933 (Y933C)

Ref Sequence

ENSEMBL: ENSMUSP00000107870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055758] [ENSMUST00000112251]

AlphaFold

Q5U430

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055758
AA Change: Y934C

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000060159
Gene: ENSMUSG00000044308
AA Change: Y934C

Domain	Start	End	E-Value	Type
low complexity region	13	40	N/A	INTRINSIC
low complexity region	67	88	N/A	INTRINSIC
Pfam:zf-UBR	118	188	1.6e-19	PFAM
low complexity region	339	354	N/A	INTRINSIC
low complexity region	570	580	N/A	INTRINSIC
low complexity region	1016	1027	N/A	INTRINSIC
low complexity region	1082	1101	N/A	INTRINSIC
coiled coil region	1167	1199	N/A	INTRINSIC
Blast:RING	1289	1363	8e-39	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112251
AA Change: Y933C

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107870
Gene: ENSMUSG00000044308
AA Change: Y933C

Domain	Start	End	E-Value	Type
low complexity region	13	40	N/A	INTRINSIC
low complexity region	67	88	N/A	INTRINSIC
Pfam:zf-UBR	119	187	1.7e-21	PFAM
low complexity region	338	353	N/A	INTRINSIC
low complexity region	569	579	N/A	INTRINSIC
low complexity region	1015	1026	N/A	INTRINSIC
low complexity region	1081	1100	N/A	INTRINSIC
coiled coil region	1166	1198	N/A	INTRINSIC
Blast:RING	1288	1362	8e-39	BLAST

Meta Mutation Damage Score

0.1316

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (77/78)

MGI Phenotype

PHENOTYPE: Homozygous null mice obtained on a coisogenic 129S1 background die early in embryogenesis while those on a mixed 129S1/B6 background are born at a slightly reduced frequency. On a congenic C57BL/6 background, homozygotes display neonatal lethality, impaired suckling and female behavioral anosmia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	G	8: 12,329,556 (GRCm39)	S4G	unknown	Het
AA623943	T	C	11: 94,703,828 (GRCm39)		noncoding transcript	Het
Abca13	T	A	11: 9,243,692 (GRCm39)	S1852T	probably damaging	Het
Ackr2	G	A	9: 121,738,540 (GRCm39)	C305Y	probably damaging	Het
Aebp1	T	C	11: 5,820,257 (GRCm39)	V411A	probably benign	Het
Akp3	G	A	1: 87,054,270 (GRCm39)	R269H	probably benign	Het
Alox15	C	A	11: 70,241,708 (GRCm39)	G58W	probably damaging	Het
Ankle2	A	G	5: 110,385,856 (GRCm39)	N369S	probably damaging	Het
Ankrd28	T	A	14: 31,465,311 (GRCm39)	I289L	probably benign	Het
Atp13a4	T	A	16: 29,252,805 (GRCm39)	T714S	possibly damaging	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Blm	A	T	7: 80,114,592 (GRCm39)	L1159Q	probably damaging	Het
Caskin1	G	A	17: 24,723,521 (GRCm39)	V770I	probably benign	Het
Ccdc148	T	A	2: 58,713,657 (GRCm39)	H498L	probably damaging	Het
Cdh26	T	A	2: 178,101,919 (GRCm39)	Y179*	probably null	Het
Cela2a	T	A	4: 141,552,864 (GRCm39)	T38S	probably benign	Het
Cep350	A	T	1: 155,809,087 (GRCm39)	N496K	probably damaging	Het
Cep89	A	G	7: 35,117,151 (GRCm39)	Y251C	probably damaging	Het
Cluh	T	C	11: 74,552,526 (GRCm39)	S524P	probably damaging	Het
Cpeb4	T	C	11: 31,822,801 (GRCm39)	S172P	probably damaging	Het
Ctnnd2	T	C	15: 30,847,523 (GRCm39)	S705P	probably damaging	Het
Dock2	T	G	11: 34,212,445 (GRCm39)	D1232A	probably benign	Het
Donson	T	C	16: 91,484,738 (GRCm39)	N9S	possibly damaging	Het
Gdf9	T	C	11: 53,324,381 (GRCm39)	L50P	probably benign	Het
Gm10300	C	T	4: 131,802,458 (GRCm39)		probably benign	Het
Gm8369	A	G	19: 11,482,248 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,055,924 (GRCm39)		noncoding transcript	Het
Hepacam	T	A	9: 37,296,101 (GRCm39)	S417R	possibly damaging	Het
Hibch	T	A	1: 52,892,859 (GRCm39)	L23Q	probably benign	Het
Hmcn1	G	A	1: 150,525,358 (GRCm39)	R3389C	probably damaging	Het
Hsp90ab1	G	T	17: 45,881,575 (GRCm39)		probably benign	Het
Hunk	C	A	16: 90,272,791 (GRCm39)	T365K	probably damaging	Het
Il12a	A	T	3: 68,602,595 (GRCm39)		probably benign	Het
Ints13	A	G	6: 146,477,847 (GRCm39)	V34A	probably benign	Het
Intu	A	C	3: 40,634,020 (GRCm39)	M418L	probably damaging	Het
Khdc4	A	G	3: 88,616,192 (GRCm39)	R460G	probably damaging	Het
Klra9	A	G	6: 130,156,036 (GRCm39)	S240P	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Ndrg1	A	G	15: 66,802,699 (GRCm39)		probably benign	Het
Or11g24	T	C	14: 50,662,905 (GRCm39)	*310Q	probably null	Het
Or5k17	T	C	16: 58,746,860 (GRCm39)	T25A	probably benign	Het
Pate6	C	T	9: 35,700,297 (GRCm39)	C96Y	probably damaging	Het
Pax7	A	G	4: 139,557,682 (GRCm39)	S30P	probably damaging	Het
Pdcd11	A	T	19: 47,082,247 (GRCm39)	T54S	probably benign	Het
Pex19	T	C	1: 171,958,306 (GRCm39)	V95A	probably damaging	Het
Pkhd1l1	A	G	15: 44,383,103 (GRCm39)	I1121V	probably benign	Het
Pklr	A	T	3: 89,049,091 (GRCm39)	I146F	probably benign	Het
Plcb1	T	C	2: 135,104,164 (GRCm39)	Y278H	possibly damaging	Het
Plcl1	T	A	1: 55,735,160 (GRCm39)	I167N	probably damaging	Het
Plekhh1	A	T	12: 79,125,461 (GRCm39)	I1241F	probably benign	Het
Plxnb2	G	T	15: 89,051,774 (GRCm39)	D148E	possibly damaging	Het
Pthlh	T	C	6: 147,158,745 (GRCm39)	I72V	probably damaging	Het
Ptpru	C	T	4: 131,513,067 (GRCm39)	R880Q	probably benign	Het
Rrp36	T	C	17: 46,978,932 (GRCm39)	K209E	probably damaging	Het
Scarb1	A	G	5: 125,381,286 (GRCm39)	V86A	probably damaging	Het
Sh2d7	A	C	9: 54,446,860 (GRCm39)	S37R	probably benign	Het
Slc13a2	A	T	11: 78,288,647 (GRCm39)	V543E	probably damaging	Het
Smarcal1	A	G	1: 72,630,296 (GRCm39)	T117A	probably benign	Het
Smok2a	A	G	17: 13,445,865 (GRCm39)	R481G	possibly damaging	Het
Smr2	G	A	5: 88,256,699 (GRCm39)	A126T	probably benign	Het
Sspo	G	T	6: 48,436,979 (GRCm39)	W1304C	possibly damaging	Het
Svep1	A	G	4: 58,116,524 (GRCm39)	S909P	possibly damaging	Het
Tchh	A	T	3: 93,352,880 (GRCm39)	K773N	unknown	Het
Tmem156	T	C	5: 65,232,950 (GRCm39)	N140S	possibly damaging	Het
Tmem213	T	C	6: 38,092,589 (GRCm39)	I107T	possibly damaging	Het
Tpd52l2	A	G	2: 181,153,372 (GRCm39)	Y161C	probably damaging	Het
Trappc8	C	T	18: 20,951,139 (GRCm39)	A1436T	probably benign	Het
Ufm1	A	T	3: 53,765,303 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,103,931 (GRCm39)	L725Q	probably damaging	Het
Zdbf2	A	G	1: 63,345,035 (GRCm39)	D1138G	possibly damaging	Het
Zkscan16	G	A	4: 58,946,481 (GRCm39)	V119M	probably damaging	Het
Zmat5	A	G	11: 4,672,431 (GRCm39)	D16G	probably damaging	Het

Other mutations in Ubr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Ubr3	APN	2	69,819,154 (GRCm39)	missense	probably benign	0.40
IGL00985:Ubr3	APN	2	69,833,775 (GRCm39)	missense	probably damaging	1.00
IGL01061:Ubr3	APN	2	69,813,569 (GRCm39)	missense	probably benign	0.05
IGL01325:Ubr3	APN	2	69,747,441 (GRCm39)	missense	possibly damaging	0.71
IGL01398:Ubr3	APN	2	69,789,997 (GRCm39)	missense	probably damaging	1.00
IGL01484:Ubr3	APN	2	69,851,888 (GRCm39)	nonsense	probably null
IGL01599:Ubr3	APN	2	69,768,522 (GRCm39)	missense	probably damaging	1.00
IGL01616:Ubr3	APN	2	69,850,828 (GRCm39)	missense	probably benign	0.14
IGL01634:Ubr3	APN	2	69,803,916 (GRCm39)	missense	probably benign
IGL01684:Ubr3	APN	2	69,846,502 (GRCm39)	nonsense	probably null
IGL01810:Ubr3	APN	2	69,833,809 (GRCm39)	splice site	probably null
IGL01813:Ubr3	APN	2	69,781,914 (GRCm39)	missense	probably benign	0.34
IGL01994:Ubr3	APN	2	69,851,520 (GRCm39)	missense	probably damaging	1.00
IGL02188:Ubr3	APN	2	69,789,955 (GRCm39)	nonsense	probably null
IGL02318:Ubr3	APN	2	69,809,741 (GRCm39)	missense	probably damaging	1.00
IGL02379:Ubr3	APN	2	69,778,832 (GRCm39)	missense	possibly damaging	0.91
IGL02635:Ubr3	APN	2	69,850,827 (GRCm39)	missense	probably damaging	0.96
IGL02858:Ubr3	APN	2	69,783,203 (GRCm39)	missense	probably damaging	1.00
IGL03140:Ubr3	APN	2	69,800,533 (GRCm39)	missense	probably damaging	1.00
IGL03343:Ubr3	APN	2	69,803,490 (GRCm39)	splice site	probably benign
Hyrax	UTSW	2	69,783,212 (GRCm39)	missense	probably benign	0.32
manatee	UTSW	2	69,809,730 (GRCm39)	nonsense	probably null
sea_cow	UTSW	2	69,790,013 (GRCm39)	splice site	probably null
R0094:Ubr3	UTSW	2	69,781,706 (GRCm39)	missense	probably damaging	1.00
R0094:Ubr3	UTSW	2	69,781,706 (GRCm39)	missense	probably damaging	1.00
R0122:Ubr3	UTSW	2	69,809,756 (GRCm39)	missense	probably damaging	1.00
R0243:Ubr3	UTSW	2	69,781,749 (GRCm39)	missense	probably damaging	1.00
R0710:Ubr3	UTSW	2	69,783,181 (GRCm39)	missense	probably damaging	1.00
R0787:Ubr3	UTSW	2	69,781,765 (GRCm39)	splice site	probably benign
R1137:Ubr3	UTSW	2	69,768,659 (GRCm39)	splice site	probably benign
R1191:Ubr3	UTSW	2	69,851,525 (GRCm39)	nonsense	probably null
R1416:Ubr3	UTSW	2	69,775,415 (GRCm39)	missense	probably damaging	1.00
R1623:Ubr3	UTSW	2	69,808,067 (GRCm39)	nonsense	probably null
R1735:Ubr3	UTSW	2	69,839,473 (GRCm39)	missense	probably damaging	1.00
R1789:Ubr3	UTSW	2	69,846,711 (GRCm39)	missense	possibly damaging	0.87
R1793:Ubr3	UTSW	2	69,830,895 (GRCm39)	splice site	probably benign
R1932:Ubr3	UTSW	2	69,783,820 (GRCm39)	splice site	probably null
R2042:Ubr3	UTSW	2	69,808,118 (GRCm39)	nonsense	probably null
R2085:Ubr3	UTSW	2	69,784,108 (GRCm39)	missense	probably damaging	1.00
R2090:Ubr3	UTSW	2	69,766,361 (GRCm39)	missense	probably damaging	1.00
R2112:Ubr3	UTSW	2	69,808,136 (GRCm39)	missense	possibly damaging	0.73
R2173:Ubr3	UTSW	2	69,727,743 (GRCm39)	missense	probably benign
R2215:Ubr3	UTSW	2	69,809,661 (GRCm39)	critical splice acceptor site	probably null
R2273:Ubr3	UTSW	2	69,846,685 (GRCm39)	missense	probably benign	0.11
R2274:Ubr3	UTSW	2	69,846,685 (GRCm39)	missense	probably benign	0.11
R2275:Ubr3	UTSW	2	69,846,685 (GRCm39)	missense	probably benign	0.11
R2292:Ubr3	UTSW	2	69,727,604 (GRCm39)	unclassified	probably benign
R2447:Ubr3	UTSW	2	69,833,724 (GRCm39)	missense	probably damaging	1.00
R2504:Ubr3	UTSW	2	69,768,542 (GRCm39)	missense	probably damaging	0.99
R2517:Ubr3	UTSW	2	69,766,362 (GRCm39)	missense	probably damaging	1.00
R2901:Ubr3	UTSW	2	69,846,536 (GRCm39)	missense	possibly damaging	0.89
R3109:Ubr3	UTSW	2	69,819,184 (GRCm39)	missense	probably damaging	1.00
R3737:Ubr3	UTSW	2	69,801,578 (GRCm39)	critical splice donor site	probably null
R3793:Ubr3	UTSW	2	69,747,525 (GRCm39)	missense	possibly damaging	0.95
R3821:Ubr3	UTSW	2	69,824,157 (GRCm39)	critical splice donor site	probably null
R3918:Ubr3	UTSW	2	69,846,474 (GRCm39)	critical splice acceptor site	probably null
R4157:Ubr3	UTSW	2	69,790,013 (GRCm39)	splice site	probably null
R4235:Ubr3	UTSW	2	69,846,729 (GRCm39)	nonsense	probably null
R4276:Ubr3	UTSW	2	69,768,731 (GRCm39)	nonsense	probably null
R4544:Ubr3	UTSW	2	69,786,437 (GRCm39)	missense	probably benign	0.18
R4678:Ubr3	UTSW	2	69,766,263 (GRCm39)	missense	probably damaging	1.00
R4707:Ubr3	UTSW	2	69,768,714 (GRCm39)	intron	probably benign
R4785:Ubr3	UTSW	2	69,789,947 (GRCm39)	missense	probably damaging	1.00
R4872:Ubr3	UTSW	2	69,800,527 (GRCm39)	missense	probably damaging	1.00
R4887:Ubr3	UTSW	2	69,843,475 (GRCm39)	missense	probably damaging	0.99
R4920:Ubr3	UTSW	2	69,783,212 (GRCm39)	missense	probably benign	0.32
R4989:Ubr3	UTSW	2	69,850,790 (GRCm39)	splice site	probably benign
R5104:Ubr3	UTSW	2	69,768,600 (GRCm39)	missense	probably damaging	0.98
R5134:Ubr3	UTSW	2	69,850,790 (GRCm39)	splice site	probably benign
R5137:Ubr3	UTSW	2	69,803,679 (GRCm39)	missense	probably damaging	1.00
R5174:Ubr3	UTSW	2	69,839,506 (GRCm39)	missense	probably damaging	1.00
R5195:Ubr3	UTSW	2	69,786,378 (GRCm39)	missense	probably benign	0.00
R5437:Ubr3	UTSW	2	69,774,734 (GRCm39)	missense	probably damaging	1.00
R5539:Ubr3	UTSW	2	69,850,877 (GRCm39)	missense	probably damaging	1.00
R5781:Ubr3	UTSW	2	69,846,588 (GRCm39)	splice site	probably null
R5913:Ubr3	UTSW	2	69,851,559 (GRCm39)	missense	probably damaging	1.00
R5969:Ubr3	UTSW	2	69,809,730 (GRCm39)	nonsense	probably null
R6136:Ubr3	UTSW	2	69,824,107 (GRCm39)	missense	probably benign	0.26
R6140:Ubr3	UTSW	2	69,803,673 (GRCm39)	missense	probably benign	0.09
R6185:Ubr3	UTSW	2	69,768,621 (GRCm39)	missense	probably damaging	0.98
R6220:Ubr3	UTSW	2	69,850,819 (GRCm39)	missense	probably damaging	1.00
R6258:Ubr3	UTSW	2	69,813,208 (GRCm39)	splice site	probably null
R6319:Ubr3	UTSW	2	69,803,758 (GRCm39)	missense	probably benign	0.00
R6322:Ubr3	UTSW	2	69,786,429 (GRCm39)	nonsense	probably null
R6470:Ubr3	UTSW	2	69,795,804 (GRCm39)	missense	probably benign	0.02
R6477:Ubr3	UTSW	2	69,809,773 (GRCm39)	nonsense	probably null
R6702:Ubr3	UTSW	2	69,786,393 (GRCm39)	missense	probably benign	0.23
R6709:Ubr3	UTSW	2	69,843,436 (GRCm39)	missense	probably damaging	1.00
R6803:Ubr3	UTSW	2	69,766,368 (GRCm39)	critical splice donor site	probably null
R6806:Ubr3	UTSW	2	69,786,308 (GRCm39)	splice site	probably benign
R6834:Ubr3	UTSW	2	69,830,825 (GRCm39)	missense	possibly damaging	0.63
R6841:Ubr3	UTSW	2	69,850,969 (GRCm39)	missense	probably damaging	1.00
R6847:Ubr3	UTSW	2	69,813,472 (GRCm39)	missense	probably damaging	1.00
R6889:Ubr3	UTSW	2	69,774,644 (GRCm39)	missense	possibly damaging	0.70
R7065:Ubr3	UTSW	2	69,784,049 (GRCm39)	missense	probably damaging	1.00
R7102:Ubr3	UTSW	2	69,728,166 (GRCm39)	missense	probably damaging	1.00
R7156:Ubr3	UTSW	2	69,851,967 (GRCm39)	missense	probably damaging	1.00
R7209:Ubr3	UTSW	2	69,846,478 (GRCm39)	missense	probably benign	0.01
R7273:Ubr3	UTSW	2	69,809,677 (GRCm39)	missense	probably damaging	0.97
R7314:Ubr3	UTSW	2	69,821,944 (GRCm39)	missense	probably damaging	1.00
R7422:Ubr3	UTSW	2	69,783,886 (GRCm39)	critical splice donor site	probably null
R7584:Ubr3	UTSW	2	69,821,847 (GRCm39)	missense	probably damaging	1.00
R7588:Ubr3	UTSW	2	69,801,513 (GRCm39)	missense	probably damaging	1.00
R7597:Ubr3	UTSW	2	69,803,812 (GRCm39)	missense	possibly damaging	0.69
R7697:Ubr3	UTSW	2	69,728,030 (GRCm39)	missense	probably damaging	1.00
R7737:Ubr3	UTSW	2	69,821,910 (GRCm39)	missense	probably benign	0.07
R7743:Ubr3	UTSW	2	69,774,793 (GRCm39)	missense	probably benign	0.28
R7946:Ubr3	UTSW	2	69,781,739 (GRCm39)	missense	possibly damaging	0.95
R7991:Ubr3	UTSW	2	69,783,200 (GRCm39)	missense	probably damaging	1.00
R8071:Ubr3	UTSW	2	69,819,220 (GRCm39)	missense	probably damaging	0.99
R8136:Ubr3	UTSW	2	69,851,523 (GRCm39)	missense	probably damaging	1.00
R8296:Ubr3	UTSW	2	69,784,706 (GRCm39)	missense	probably null	1.00
R8313:Ubr3	UTSW	2	69,775,478 (GRCm39)	missense	probably damaging	0.99
R8675:Ubr3	UTSW	2	69,850,865 (GRCm39)	missense	probably damaging	1.00
R8834:Ubr3	UTSW	2	69,833,785 (GRCm39)	missense	probably benign
R8975:Ubr3	UTSW	2	69,752,651 (GRCm39)	missense	probably damaging	1.00
R9060:Ubr3	UTSW	2	69,839,489 (GRCm39)	nonsense	probably null
R9153:Ubr3	UTSW	2	69,795,822 (GRCm39)	missense
R9234:Ubr3	UTSW	2	69,727,990 (GRCm39)	missense	probably benign
R9293:Ubr3	UTSW	2	69,727,769 (GRCm39)	missense	probably benign	0.02
R9312:Ubr3	UTSW	2	69,784,677 (GRCm39)	missense	probably damaging	1.00
R9710:Ubr3	UTSW	2	69,727,957 (GRCm39)	missense	possibly damaging	0.94
R9762:Ubr3	UTSW	2	69,839,497 (GRCm39)	missense	probably benign	0.00
Z1088:Ubr3	UTSW	2	69,752,711 (GRCm39)	missense	probably benign	0.00
Z1177:Ubr3	UTSW	2	69,803,550 (GRCm39)	missense	probably damaging	1.00
Z1177:Ubr3	UTSW	2	69,728,010 (GRCm39)	missense	probably damaging	1.00
Z1177:Ubr3	UTSW	2	69,727,805 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- AAACCATAATTTATGAGTCTGCCAT -3'
(R):5'- TTTCTCCACAAAGAAATACAACTGC -3'

Sequencing Primer
(F):5'- AATTCCCTGGCAATCCCT -3'
(R):5'- ACTGCTTCCTAATTTTTCAATTTGG -3'

Posted On

2016-12-15