Mutagenetix > Incidental Mutation

Incidental Mutation 'R6702:Ubr3'

528790

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

044820-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69727590-69854357 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69786393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 836 (R836W)

Ref Sequence

ENSEMBL: ENSMUSP00000107870 (fasta)

Gene Model

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

AlphaFold

Q5U430

Predicted Effect

probably benign
Transcript: ENSMUST00000055758
AA Change: R837W

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000060159
Gene: ENSMUSG00000044308
AA Change: R837W

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 benign
Transcript: ENSMUST00000112251
AA Change: R836W

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107870
Gene: ENSMUSG00000044308
AA Change: R836W

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,497,558 (GRCm39)	Y66*	probably null	Het
Ak3	A	G	19: 29,003,627 (GRCm39)	V183A	probably damaging	Het
Ano10	G	T	9: 122,088,630 (GRCm39)	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,648,058 (GRCm39)		probably null	Het
Brpf3	A	C	17: 29,029,633 (GRCm39)	N531T	probably benign	Het
Casp2	T	C	6: 42,244,985 (GRCm39)	V128A	probably benign	Het
Cdcp2	T	C	4: 106,964,283 (GRCm39)	C378R	probably benign	Het
Cfap54	T	A	10: 92,704,596 (GRCm39)	D2828V	unknown	Het
Col6a3	T	C	1: 90,707,161 (GRCm39)	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,100,608 (GRCm39)	T93A	probably benign	Het
Ddx54	T	A	5: 120,764,568 (GRCm39)	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,376,571 (GRCm39)	S56P	probably damaging	Het
Dna2	T	A	10: 62,809,073 (GRCm39)	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,882,869 (GRCm39)	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,146,256 (GRCm39)	F296L	probably benign	Het
Fat1	A	G	8: 45,406,083 (GRCm39)	T945A	probably benign	Het
Herpud1	T	C	8: 95,119,154 (GRCm39)		probably null	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Kif26b	C	G	1: 178,744,852 (GRCm39)	S1649R	possibly damaging	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,285,031 (GRCm39)	S290P	probably benign	Het
Map4k1	T	G	7: 28,701,821 (GRCm39)	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,773,525 (GRCm39)	C134S	possibly damaging	Het
Myo15a	A	G	11: 60,383,818 (GRCm39)	I1622V	probably benign	Het
Nbea	A	G	3: 55,912,923 (GRCm39)	Y955H	probably benign	Het
Ndor1	A	G	2: 25,139,902 (GRCm39)	F142S	possibly damaging	Het
Nynrin	A	G	14: 56,101,935 (GRCm39)	T535A	possibly damaging	Het
Or4k15	A	G	14: 50,364,688 (GRCm39)	Y218C	probably damaging	Het
Or4k42	T	A	2: 111,320,454 (GRCm39)		probably null	Het
Or5ac23	C	T	16: 59,148,961 (GRCm39)	V304I	probably benign	Het
Or5d46	G	A	2: 88,170,586 (GRCm39)	V226I	probably benign	Het
Or8b51	A	T	9: 38,569,073 (GRCm39)	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,577,828 (GRCm39)	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,474,959 (GRCm39)	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Per2	C	T	1: 91,355,671 (GRCm39)	E696K	probably damaging	Het
Pld4	T	C	12: 112,731,485 (GRCm39)	S213P	probably damaging	Het
Prkg1	T	A	19: 30,970,484 (GRCm39)	H209L	probably benign	Het
Psg16	T	C	7: 16,824,321 (GRCm39)	L35P	probably damaging	Het
Pxn	C	T	5: 115,689,955 (GRCm39)	L160F	probably benign	Het
Rab3a	A	G	8: 71,209,095 (GRCm39)	D77G	probably damaging	Het
Resf1	T	A	6: 149,229,376 (GRCm39)	N807K	probably damaging	Het
Rgma	A	T	7: 73,067,068 (GRCm39)	T108S	probably damaging	Het
Rxrg	A	G	1: 167,441,374 (GRCm39)	S51G	probably benign	Het
S1pr3	A	T	13: 51,573,475 (GRCm39)	I219F	probably damaging	Het
Sec23b	A	T	2: 144,401,109 (GRCm39)		probably null	Het
Sfrp5	G	T	19: 42,190,266 (GRCm39)	T62K	probably benign	Het
Slco1a6	T	A	6: 142,048,826 (GRCm39)	Y318F	probably damaging	Het
Slit1	A	C	19: 41,603,309 (GRCm39)	S931A	possibly damaging	Het
Sorl1	A	T	9: 41,982,497 (GRCm39)	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,575,213 (GRCm39)	S209P	probably benign	Het
Supt6	C	A	11: 78,122,626 (GRCm39)	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,636,347 (GRCm39)	M234R	probably benign	Het
Tmem72	C	G	6: 116,675,310 (GRCm39)	V61L	probably benign	Het
Trpm5	C	A	7: 142,623,055 (GRCm39)		probably benign	Het
Ttn	T	G	2: 76,550,456 (GRCm39)	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210 (GRCm39)		probably benign	Het
Umodl1	A	G	17: 31,205,273 (GRCm39)		probably null	Het
Ythdf1	A	G	2: 180,560,926 (GRCm39)		probably null	Het
Zfp780b	T	C	7: 27,671,066 (GRCm39)	T81A	possibly damaging	Het
Zfp811	T	C	17: 33,016,816 (GRCm39)	E407G	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
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
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'- ACAGCCAGTCATTTTCTATTTTGGT -3'
(R):5'- CAGAAGAATGCCAAAACTGGATT -3'

Sequencing Primer
(F):5'- GATGCTGGTGCTAGTCATTA -3'
(R):5'- GCCACAGTTAGCCTATTGAGTAAGC -3'

Posted On

2018-07-24