Mutagenetix > Incidental Mutation

Incidental Mutation 'R6220:Ubr3'

503931

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

044352-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69727590-69854357 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69850819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1746 (W1746R)

Ref Sequence

ENSEMBL: ENSMUSP00000107870 (fasta)

Gene Model

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

AlphaFold

Q5U430

Predicted Effect

probably damaging
Transcript: ENSMUST00000055758
AA Change: W1743R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060159
Gene: ENSMUSG00000044308
AA Change: W1743R

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 damaging
Transcript: ENSMUST00000112251
AA Change: W1746R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107870
Gene: ENSMUSG00000044308
AA Change: W1746R

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

noncoding transcript
Transcript: ENSMUST00000123890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150301

Meta Mutation Damage Score

0.8060

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	A	G	2: 181,135,578 (GRCm39)	D160G	probably damaging	Het
Acap1	A	G	11: 69,780,505 (GRCm39)	F15S	probably damaging	Het
Adam30	A	T	3: 98,068,625 (GRCm39)	S153C	probably damaging	Het
Afp	A	T	5: 90,652,269 (GRCm39)	D420V	possibly damaging	Het
Ak9	T	A	10: 41,246,095 (GRCm39)	H729Q	unknown	Het
Armh3	T	C	19: 45,834,554 (GRCm39)	E618G	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bcr	A	G	10: 74,898,124 (GRCm39)	T423A	probably benign	Het
Cc2d1b	C	T	4: 108,490,422 (GRCm39)	R825W	probably damaging	Het
Ctns	T	C	11: 73,083,954 (GRCm39)	T23A	probably benign	Het
Ddx54	T	A	5: 120,758,754 (GRCm39)	N332K	probably benign	Het
Dysf	T	A	6: 84,126,727 (GRCm39)	I1344N	probably damaging	Het
Elovl3	A	T	19: 46,122,939 (GRCm39)	M172L	probably benign	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Filip1l	T	A	16: 57,390,352 (GRCm39)	N313K	probably benign	Het
Foxp2	C	A	6: 15,437,947 (GRCm39)	T716K	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm10645	A	G	8: 83,892,386 (GRCm39)		probably benign	Het
Gm10735	T	C	13: 113,178,030 (GRCm39)		probably benign	Het
Gm4847	A	T	1: 166,462,541 (GRCm39)	D316E	probably damaging	Het
Gorasp2	T	C	2: 70,521,134 (GRCm39)	L388P	probably damaging	Het
Heatr5b	A	G	17: 79,081,106 (GRCm39)	L1382P	probably damaging	Het
Herc1	A	G	9: 66,341,070 (GRCm39)	Y1729C	probably damaging	Het
Ifi207	A	T	1: 173,557,112 (GRCm39)	L542H	probably damaging	Het
Ighv3-5	T	A	12: 114,226,338 (GRCm39)	N96I	probably damaging	Het
Isl1	T	C	13: 116,439,803 (GRCm39)	T182A	probably benign	Het
Jph4	T	C	14: 55,347,542 (GRCm39)	E421G	probably benign	Het
Lrrc45	T	C	11: 120,610,353 (GRCm39)	I488T	probably benign	Het
Mroh8	A	G	2: 157,075,083 (GRCm39)	I471T	probably benign	Het
Ms4a2	A	T	19: 11,594,927 (GRCm39)	D96E	probably damaging	Het
Mst1r	T	A	9: 107,784,547 (GRCm39)	N68K	probably benign	Het
Myo18b	A	G	5: 112,905,373 (GRCm39)	M2075T	possibly damaging	Het
Neb	T	C	2: 52,160,984 (GRCm39)	K2229R	probably null	Het
Nkx6-3	T	A	8: 23,643,987 (GRCm39)		probably null	Het
Nlrp1a	C	A	11: 71,033,164 (GRCm39)	S10I	probably benign	Het
Npas2	A	T	1: 39,375,142 (GRCm39)	T487S	probably benign	Het
Nrxn1	G	C	17: 91,395,904 (GRCm39)	T84R	probably benign	Het
Or4k2	C	A	14: 50,424,135 (GRCm39)	D180Y	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh18	A	G	3: 49,699,700 (GRCm39)	C921R	probably damaging	Het
Pcdha9	A	G	18: 37,131,531 (GRCm39)	Y200C	probably damaging	Het
Pknox1	A	T	17: 31,822,177 (GRCm39)	R315*	probably null	Het
Rasgrp1	C	T	2: 117,115,410 (GRCm39)	W726*	probably null	Het
Rassf8	G	A	6: 145,762,859 (GRCm39)	R402H	probably damaging	Het
Rev3l	T	A	10: 39,698,775 (GRCm39)	Y1091N	probably damaging	Het
Riok3	T	G	18: 12,282,608 (GRCm39)	V349G	probably damaging	Het
Rps18	A	T	17: 34,174,110 (GRCm39)	V15E	probably damaging	Het
Rptor	A	T	11: 119,788,268 (GRCm39)	Y1323F	possibly damaging	Het
Rspry1	T	C	8: 95,385,378 (GRCm39)	C437R	probably damaging	Het
Sema5a	T	A	15: 32,686,875 (GRCm39)	Y996N	probably damaging	Het
Smarcad1	A	G	6: 65,091,313 (GRCm39)	I1011M	probably benign	Het
Supv3l1	A	T	10: 62,274,800 (GRCm39)	M295K	possibly damaging	Het
Sv2c	T	C	13: 96,113,134 (GRCm39)	D605G	probably damaging	Het
Teddm1b	G	A	1: 153,750,947 (GRCm39)	W252*	probably null	Het
Tes	T	A	6: 17,086,195 (GRCm39)	C29*	probably null	Het
Thsd4	A	G	9: 59,890,030 (GRCm39)	W856R	probably damaging	Het
Treml4	A	T	17: 48,571,876 (GRCm39)	D93V	possibly damaging	Het
Trim66	T	C	7: 109,082,300 (GRCm39)	T218A	probably damaging	Het
Tssk5	T	C	15: 76,257,973 (GRCm39)	D128G	probably damaging	Het
Vmn2r11	T	C	5: 109,201,434 (GRCm39)	I357V	probably benign	Het
Vmn2r87	A	T	10: 130,315,807 (GRCm39)	D86E	probably benign	Het
Zfp184	T	G	13: 22,144,377 (GRCm39)	H694Q	probably damaging	Het
Zranb3	A	C	1: 127,927,141 (GRCm39)	F341L	probably benign	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
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'- CCCGGTGTCAAGAATGCTTAATTAAC -3'
(R):5'- TCACAGTAACTTTGCTGCTTGC -3'

Sequencing Primer
(F):5'- TTTTCATGCATGTTCAGAGGTAC -3'
(R):5'- TTGCAGCACAGGCCTTTCAG -3'

Posted On

2018-02-27