Mutagenetix > Incidental Mutation

Incidental Mutation 'R6803:Ubr3'

533418

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

044916-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6803 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69727590-69854357 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 69766368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q5U430

Predicted Effect

probably null
Transcript: ENSMUST00000055758

SMART Domains

Protein: ENSMUSP00000060159
Gene: ENSMUSG00000044308

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

probably null
Transcript: ENSMUST00000112251

SMART Domains

Protein: ENSMUSP00000107870
Gene: ENSMUSG00000044308

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

Predicted Effect

probably null
Transcript: ENSMUST00000131553

SMART Domains

Protein: ENSMUSP00000121401
Gene: ENSMUSG00000044308

Domain	Start	End	E-Value	Type
low complexity region	11	38	N/A	INTRINSIC
low complexity region	65	86	N/A	INTRINSIC
Pfam:zf-UBR	117	185	1.2e-21	PFAM
low complexity region	336	351	N/A	INTRINSIC

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 94.7%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg9	A	C	9: 50,700,860 (GRCm39)	D210A	probably benign	Het
As3mt	T	G	19: 46,698,020 (GRCm39)	M120R	probably benign	Het
Baz1a	T	A	12: 54,988,340 (GRCm39)	S270C	probably null	Het
Car5a	A	C	8: 122,650,504 (GRCm39)		probably null	Het
Ccdc187	T	A	2: 26,179,791 (GRCm39)	T223S	probably benign	Het
Cel	T	C	2: 28,448,060 (GRCm39)	N322S	probably benign	Het
Chd6	T	C	2: 160,802,279 (GRCm39)	E2185G	possibly damaging	Het
Clcnkb	T	C	4: 141,132,639 (GRCm39)	T597A	probably benign	Het
Cntnap1	A	G	11: 101,068,060 (GRCm39)	Y24C	possibly damaging	Het
Cog3	A	G	14: 75,941,479 (GRCm39)	S817P	probably benign	Het
Col8a2	A	G	4: 126,205,793 (GRCm39)	Y601C	probably damaging	Het
Cpm	G	T	10: 117,512,002 (GRCm39)		probably null	Het
Cpt2	T	C	4: 107,769,861 (GRCm39)	N79S	probably damaging	Het
Dnah17	T	C	11: 118,016,198 (GRCm39)	T314A	probably benign	Het
Dnm1	C	A	2: 32,202,766 (GRCm39)	V46F	probably damaging	Het
Fat3	C	T	9: 15,908,083 (GRCm39)	V2640M	probably damaging	Het
Fbxl2	A	T	9: 113,813,617 (GRCm39)	C296S	probably damaging	Het
Fcgbp	A	G	7: 27,802,637 (GRCm39)	T1522A	probably benign	Het
Foxl2	A	C	9: 98,837,985 (GRCm39)	K91T	probably damaging	Het
Hdac11	G	T	6: 91,143,247 (GRCm39)	R131L	probably damaging	Het
Ipo11	T	C	13: 106,993,766 (GRCm39)	I723V	probably benign	Het
Klhl33	A	G	14: 51,134,192 (GRCm39)	L150P	probably damaging	Het
Klk1b11	A	G	7: 43,647,261 (GRCm39)	H65R	probably damaging	Het
Larp7	T	C	3: 127,330,685 (GRCm39)		probably null	Het
Ldlrad3	T	C	2: 101,943,892 (GRCm39)	D60G	possibly damaging	Het
Mlip	A	T	9: 77,097,663 (GRCm39)	H177Q	probably damaging	Het
Mrnip	A	G	11: 50,090,730 (GRCm39)	D298G	probably benign	Het
Npas2	A	C	1: 39,375,130 (GRCm39)	S483R	probably benign	Het
Nrg3	C	A	14: 38,733,957 (GRCm39)	E310*	probably null	Het
Omg	T	A	11: 79,393,094 (GRCm39)	T255S	possibly damaging	Het
Or2y12	T	A	11: 49,426,432 (GRCm39)	L140H	probably damaging	Het
Or56b1b	G	T	7: 108,164,620 (GRCm39)	D127E	probably damaging	Het
Plekhg6	T	C	6: 125,340,626 (GRCm39)	D578G	probably damaging	Het
Pygo1	A	G	9: 72,850,267 (GRCm39)	K39E	probably damaging	Het
Rell2	A	G	18: 38,089,994 (GRCm39)	D66G	probably damaging	Het
Samd9l	A	T	6: 3,375,446 (GRCm39)	I605K	probably damaging	Het
Sema6d	T	C	2: 124,505,970 (GRCm39)	S593P	probably damaging	Het
Sf3b3	A	G	8: 111,552,210 (GRCm39)	V545A	probably benign	Het
Speer4f1	T	A	5: 17,684,388 (GRCm39)		probably null	Het
Spem1	T	C	11: 69,711,974 (GRCm39)	E230G	possibly damaging	Het
Sphkap	A	G	1: 83,258,231 (GRCm39)	F171L	probably damaging	Het
Tbc1d13	T	C	2: 30,025,522 (GRCm39)		probably benign	Het
Tmem222	A	T	4: 132,994,154 (GRCm39)	N206K	probably benign	Het
Trnau1ap	C	T	4: 132,049,081 (GRCm39)	V41M	probably damaging	Het
Ttn	C	T	2: 76,769,387 (GRCm39)		probably null	Het
Uox	T	G	3: 146,318,264 (GRCm39)	V55G	possibly damaging	Het
Vmn2r24	A	T	6: 123,755,960 (GRCm39)	I11F	possibly damaging	Het
Wasf2	T	C	4: 132,922,220 (GRCm39)		probably null	Het
Wdr97	A	G	15: 76,240,776 (GRCm39)	Y488C	probably damaging	Het
Zbtb4	T	C	11: 69,669,454 (GRCm39)	S726P	possibly damaging	Het
Zfp534	C	T	4: 147,758,926 (GRCm39)	C581Y	probably damaging	Het
Zfp551	A	T	7: 12,151,108 (GRCm39)	C100*	probably null	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
R5809:Ubr3	UTSW	2	69,795,855 (GRCm39)	missense	possibly damaging	0.90
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
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'- ACTTTCAGATGAGTTTGATGGACTG -3'
(R):5'- AAGCTAAGATTCTGTGTATTCCGAG -3'

Sequencing Primer
(F):5'- TATGGCAAGGTTTAAATGACATGAGC -3'
(R):5'- GTGTATTCCGAGCAGACGTTCAAC -3'

Posted On

2018-09-12