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

Zfp650, 4833421P10Rik, A130030D10Rik, 1110059H15Rik

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

69897246-70024013 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70020475 bp (GRCm38)

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
9130011E15Rik	T	C	19: 45,846,115 (GRCm38)	E618G	possibly damaging	Het
Abhd16b	A	G	2: 181,493,785 (GRCm38)	D160G	probably damaging	Het
Acap1	A	G	11: 69,889,679 (GRCm38)	F15S	probably damaging	Het
Adam30	A	T	3: 98,161,309 (GRCm38)	S153C	probably damaging	Het
Afp	A	T	5: 90,504,410 (GRCm38)	D420V	possibly damaging	Het
Ak9	T	A	10: 41,370,099 (GRCm38)	H729Q	unknown	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
Bcr	A	G	10: 75,062,292 (GRCm38)	T423A	probably benign	Het
Cc2d1b	C	T	4: 108,633,225 (GRCm38)	R825W	probably damaging	Het
Ctns	T	C	11: 73,193,128 (GRCm38)	T23A	probably benign	Het
Ddx54	T	A	5: 120,620,689 (GRCm38)	N332K	probably benign	Het
Dysf	T	A	6: 84,149,745 (GRCm38)	I1344N	probably damaging	Het
Elovl3	A	T	19: 46,134,500 (GRCm38)	M172L	probably benign	Het
Fbxo6	A	T	4: 148,149,522 (GRCm38)	I39N	probably damaging	Het
Filip1l	T	A	16: 57,569,989 (GRCm38)	N313K	probably benign	Het
Foxp2	C	A	6: 15,437,948 (GRCm38)	T716K	probably damaging	Het
Gm10549	C	A	18: 33,464,305 (GRCm38)		probably benign	Het
Gm10645	A	G	8: 83,165,757 (GRCm38)		probably benign	Het
Gm10735	T	C	13: 113,041,496 (GRCm38)		probably benign	Het
Gm4847	A	T	1: 166,634,972 (GRCm38)	D316E	probably damaging	Het
Gorasp2	T	C	2: 70,690,790 (GRCm38)	L388P	probably damaging	Het
Heatr5b	A	G	17: 78,773,677 (GRCm38)	L1382P	probably damaging	Het
Herc1	A	G	9: 66,433,788 (GRCm38)	Y1729C	probably damaging	Het
Ifi207	A	T	1: 173,729,546 (GRCm38)	L542H	probably damaging	Het
Ighv3-5	T	A	12: 114,262,718 (GRCm38)	N96I	probably damaging	Het
Isl1	T	C	13: 116,303,267 (GRCm38)	T182A	probably benign	Het
Jph4	T	C	14: 55,110,085 (GRCm38)	E421G	probably benign	Het
Lrrc45	T	C	11: 120,719,527 (GRCm38)	I488T	probably benign	Het
Mroh8	A	G	2: 157,233,163 (GRCm38)	I471T	probably benign	Het
Ms4a2	A	T	19: 11,617,563 (GRCm38)	D96E	probably damaging	Het
Mst1r	T	A	9: 107,907,348 (GRCm38)	N68K	probably benign	Het
Myo18b	A	G	5: 112,757,507 (GRCm38)	M2075T	possibly damaging	Het
Neb	T	C	2: 52,270,972 (GRCm38)	K2229R	probably null	Het
Nkx6-3	T	A	8: 23,153,971 (GRCm38)		probably null	Het
Nlrp1a	C	A	11: 71,142,338 (GRCm38)	S10I	probably benign	Het
Npas2	A	T	1: 39,336,061 (GRCm38)	T487S	probably benign	Het
Nrxn1	G	C	17: 91,088,476 (GRCm38)	T84R	probably benign	Het
Olfr730	C	A	14: 50,186,678 (GRCm38)	D180Y	probably damaging	Het
Otx1	C	A	11: 21,997,037 (GRCm38)	A91S	probably damaging	Het
Pcdh18	A	G	3: 49,745,251 (GRCm38)	C921R	probably damaging	Het
Pcdha9	A	G	18: 36,998,478 (GRCm38)	Y200C	probably damaging	Het
Pknox1	A	T	17: 31,603,203 (GRCm38)	R315*	probably null	Het
Rasgrp1	C	T	2: 117,284,929 (GRCm38)	W726*	probably null	Het
Rassf8	G	A	6: 145,817,133 (GRCm38)	R402H	probably damaging	Het
Rev3l	T	A	10: 39,822,779 (GRCm38)	Y1091N	probably damaging	Het
Riok3	T	G	18: 12,149,551 (GRCm38)	V349G	probably damaging	Het
Rps18	A	T	17: 33,955,136 (GRCm38)	V15E	probably damaging	Het
Rptor	A	T	11: 119,897,442 (GRCm38)	Y1323F	possibly damaging	Het
Rspry1	T	C	8: 94,658,750 (GRCm38)	C437R	probably damaging	Het
Sema5a	T	A	15: 32,686,729 (GRCm38)	Y996N	probably damaging	Het
Smarcad1	A	G	6: 65,114,329 (GRCm38)	I1011M	probably benign	Het
Supv3l1	A	T	10: 62,439,021 (GRCm38)	M295K	possibly damaging	Het
Sv2c	T	C	13: 95,976,626 (GRCm38)	D605G	probably damaging	Het
Teddm1b	G	A	1: 153,875,201 (GRCm38)	W252*	probably null	Het
Tes	T	A	6: 17,086,196 (GRCm38)	C29*	probably null	Het
Thsd4	A	G	9: 59,982,747 (GRCm38)	W856R	probably damaging	Het
Treml4	A	T	17: 48,264,848 (GRCm38)	D93V	possibly damaging	Het
Trim66	T	C	7: 109,483,093 (GRCm38)	T218A	probably damaging	Het
Tssk5	T	C	15: 76,373,773 (GRCm38)	D128G	probably damaging	Het
Vmn2r11	T	C	5: 109,053,568 (GRCm38)	I357V	probably benign	Het
Vmn2r87	A	T	10: 130,479,938 (GRCm38)	D86E	probably benign	Het
Zfp184	T	G	13: 21,960,207 (GRCm38)	H694Q	probably damaging	Het
Zranb3	A	C	1: 127,999,404 (GRCm38)	F341L	probably benign	Het

Other mutations in Ubr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Ubr3	APN	2	69,988,810 (GRCm38)	missense	probably benign	0.40
IGL00985:Ubr3	APN	2	70,003,431 (GRCm38)	missense	probably damaging	1.00
IGL01061:Ubr3	APN	2	69,983,225 (GRCm38)	missense	probably benign	0.05
IGL01325:Ubr3	APN	2	69,917,097 (GRCm38)	missense	possibly damaging	0.71
IGL01398:Ubr3	APN	2	69,959,653 (GRCm38)	missense	probably damaging	1.00
IGL01484:Ubr3	APN	2	70,021,544 (GRCm38)	nonsense	probably null
IGL01599:Ubr3	APN	2	69,938,178 (GRCm38)	missense	probably damaging	1.00
IGL01616:Ubr3	APN	2	70,020,484 (GRCm38)	missense	probably benign	0.14
IGL01634:Ubr3	APN	2	69,973,572 (GRCm38)	missense	probably benign
IGL01684:Ubr3	APN	2	70,016,158 (GRCm38)	nonsense	probably null
IGL01810:Ubr3	APN	2	70,003,465 (GRCm38)	splice site	probably null
IGL01813:Ubr3	APN	2	69,951,570 (GRCm38)	missense	probably benign	0.34
IGL01994:Ubr3	APN	2	70,021,176 (GRCm38)	missense	probably damaging	1.00
IGL02188:Ubr3	APN	2	69,959,611 (GRCm38)	nonsense	probably null
IGL02318:Ubr3	APN	2	69,979,397 (GRCm38)	missense	probably damaging	1.00
IGL02379:Ubr3	APN	2	69,948,488 (GRCm38)	missense	possibly damaging	0.91
IGL02635:Ubr3	APN	2	70,020,483 (GRCm38)	missense	probably damaging	0.96
IGL02858:Ubr3	APN	2	69,952,859 (GRCm38)	missense	probably damaging	1.00
IGL03140:Ubr3	APN	2	69,970,189 (GRCm38)	missense	probably damaging	1.00
IGL03343:Ubr3	APN	2	69,973,146 (GRCm38)	splice site	probably benign
Hyrax	UTSW	2	69,952,868 (GRCm38)	missense	probably benign	0.32
manatee	UTSW	2	69,979,386 (GRCm38)	nonsense	probably null
sea_cow	UTSW	2	69,959,669 (GRCm38)	splice site	probably null
R0094:Ubr3	UTSW	2	69,951,362 (GRCm38)	missense	probably damaging	1.00
R0094:Ubr3	UTSW	2	69,951,362 (GRCm38)	missense	probably damaging	1.00
R0122:Ubr3	UTSW	2	69,979,412 (GRCm38)	missense	probably damaging	1.00
R0243:Ubr3	UTSW	2	69,951,405 (GRCm38)	missense	probably damaging	1.00
R0710:Ubr3	UTSW	2	69,952,837 (GRCm38)	missense	probably damaging	1.00
R0787:Ubr3	UTSW	2	69,951,421 (GRCm38)	splice site	probably benign
R1137:Ubr3	UTSW	2	69,938,315 (GRCm38)	splice site	probably benign
R1191:Ubr3	UTSW	2	70,021,181 (GRCm38)	nonsense	probably null
R1416:Ubr3	UTSW	2	69,945,071 (GRCm38)	missense	probably damaging	1.00
R1623:Ubr3	UTSW	2	69,977,723 (GRCm38)	nonsense	probably null
R1735:Ubr3	UTSW	2	70,009,129 (GRCm38)	missense	probably damaging	1.00
R1789:Ubr3	UTSW	2	70,016,367 (GRCm38)	missense	possibly damaging	0.87
R1793:Ubr3	UTSW	2	70,000,551 (GRCm38)	splice site	probably benign
R1932:Ubr3	UTSW	2	69,953,476 (GRCm38)	splice site	probably null
R2042:Ubr3	UTSW	2	69,977,774 (GRCm38)	nonsense	probably null
R2085:Ubr3	UTSW	2	69,953,764 (GRCm38)	missense	probably damaging	1.00
R2090:Ubr3	UTSW	2	69,936,017 (GRCm38)	missense	probably damaging	1.00
R2112:Ubr3	UTSW	2	69,977,792 (GRCm38)	missense	possibly damaging	0.73
R2173:Ubr3	UTSW	2	69,897,399 (GRCm38)	missense	probably benign
R2215:Ubr3	UTSW	2	69,979,317 (GRCm38)	critical splice acceptor site	probably null
R2273:Ubr3	UTSW	2	70,016,341 (GRCm38)	missense	probably benign	0.11
R2274:Ubr3	UTSW	2	70,016,341 (GRCm38)	missense	probably benign	0.11
R2275:Ubr3	UTSW	2	70,016,341 (GRCm38)	missense	probably benign	0.11
R2292:Ubr3	UTSW	2	69,897,260 (GRCm38)	unclassified	probably benign
R2447:Ubr3	UTSW	2	70,003,380 (GRCm38)	missense	probably damaging	1.00
R2504:Ubr3	UTSW	2	69,938,198 (GRCm38)	missense	probably damaging	0.99
R2517:Ubr3	UTSW	2	69,936,018 (GRCm38)	missense	probably damaging	1.00
R2901:Ubr3	UTSW	2	70,016,192 (GRCm38)	missense	possibly damaging	0.89
R3109:Ubr3	UTSW	2	69,988,840 (GRCm38)	missense	probably damaging	1.00
R3737:Ubr3	UTSW	2	69,971,234 (GRCm38)	critical splice donor site	probably null
R3793:Ubr3	UTSW	2	69,917,181 (GRCm38)	missense	possibly damaging	0.95
R3821:Ubr3	UTSW	2	69,993,813 (GRCm38)	critical splice donor site	probably null
R3918:Ubr3	UTSW	2	70,016,130 (GRCm38)	critical splice acceptor site	probably null
R4157:Ubr3	UTSW	2	69,959,669 (GRCm38)	splice site	probably null
R4235:Ubr3	UTSW	2	70,016,385 (GRCm38)	nonsense	probably null
R4276:Ubr3	UTSW	2	69,938,387 (GRCm38)	nonsense	probably null
R4544:Ubr3	UTSW	2	69,956,093 (GRCm38)	missense	probably benign	0.18
R4678:Ubr3	UTSW	2	69,935,919 (GRCm38)	missense	probably damaging	1.00
R4707:Ubr3	UTSW	2	69,938,370 (GRCm38)	intron	probably benign
R4785:Ubr3	UTSW	2	69,959,603 (GRCm38)	missense	probably damaging	1.00
R4872:Ubr3	UTSW	2	69,970,183 (GRCm38)	missense	probably damaging	1.00
R4887:Ubr3	UTSW	2	70,013,131 (GRCm38)	missense	probably damaging	0.99
R4920:Ubr3	UTSW	2	69,952,868 (GRCm38)	missense	probably benign	0.32
R4989:Ubr3	UTSW	2	70,020,446 (GRCm38)	splice site	probably benign
R5104:Ubr3	UTSW	2	69,938,256 (GRCm38)	missense	probably damaging	0.98
R5134:Ubr3	UTSW	2	70,020,446 (GRCm38)	splice site	probably benign
R5137:Ubr3	UTSW	2	69,973,335 (GRCm38)	missense	probably damaging	1.00
R5174:Ubr3	UTSW	2	70,009,162 (GRCm38)	missense	probably damaging	1.00
R5195:Ubr3	UTSW	2	69,956,034 (GRCm38)	missense	probably benign	0.00
R5437:Ubr3	UTSW	2	69,944,390 (GRCm38)	missense	probably damaging	1.00
R5539:Ubr3	UTSW	2	70,020,533 (GRCm38)	missense	probably damaging	1.00
R5781:Ubr3	UTSW	2	70,016,244 (GRCm38)	splice site	probably null
R5809:Ubr3	UTSW	2	69,965,511 (GRCm38)	missense	possibly damaging	0.90
R5913:Ubr3	UTSW	2	70,021,215 (GRCm38)	missense	probably damaging	1.00
R5969:Ubr3	UTSW	2	69,979,386 (GRCm38)	nonsense	probably null
R6136:Ubr3	UTSW	2	69,993,763 (GRCm38)	missense	probably benign	0.26
R6140:Ubr3	UTSW	2	69,973,329 (GRCm38)	missense	probably benign	0.09
R6185:Ubr3	UTSW	2	69,938,277 (GRCm38)	missense	probably damaging	0.98
R6258:Ubr3	UTSW	2	69,982,864 (GRCm38)	splice site	probably null
R6319:Ubr3	UTSW	2	69,973,414 (GRCm38)	missense	probably benign	0.00
R6322:Ubr3	UTSW	2	69,956,085 (GRCm38)	nonsense	probably null
R6470:Ubr3	UTSW	2	69,965,460 (GRCm38)	missense	probably benign	0.02
R6477:Ubr3	UTSW	2	69,979,429 (GRCm38)	nonsense	probably null
R6702:Ubr3	UTSW	2	69,956,049 (GRCm38)	missense	probably benign	0.23
R6709:Ubr3	UTSW	2	70,013,092 (GRCm38)	missense	probably damaging	1.00
R6803:Ubr3	UTSW	2	69,936,024 (GRCm38)	critical splice donor site	probably null
R6806:Ubr3	UTSW	2	69,955,964 (GRCm38)	splice site	probably benign
R6834:Ubr3	UTSW	2	70,000,481 (GRCm38)	missense	possibly damaging	0.63
R6841:Ubr3	UTSW	2	70,020,625 (GRCm38)	missense	probably damaging	1.00
R6847:Ubr3	UTSW	2	69,983,128 (GRCm38)	missense	probably damaging	1.00
R6889:Ubr3	UTSW	2	69,944,300 (GRCm38)	missense	possibly damaging	0.70
R7065:Ubr3	UTSW	2	69,953,705 (GRCm38)	missense	probably damaging	1.00
R7102:Ubr3	UTSW	2	69,897,822 (GRCm38)	missense	probably damaging	1.00
R7156:Ubr3	UTSW	2	70,021,623 (GRCm38)	missense	probably damaging	1.00
R7209:Ubr3	UTSW	2	70,016,134 (GRCm38)	missense	probably benign	0.01
R7273:Ubr3	UTSW	2	69,979,333 (GRCm38)	missense	probably damaging	0.97
R7314:Ubr3	UTSW	2	69,991,600 (GRCm38)	missense	probably damaging	1.00
R7422:Ubr3	UTSW	2	69,953,542 (GRCm38)	critical splice donor site	probably null
R7584:Ubr3	UTSW	2	69,991,503 (GRCm38)	missense	probably damaging	1.00
R7588:Ubr3	UTSW	2	69,971,169 (GRCm38)	missense	probably damaging	1.00
R7597:Ubr3	UTSW	2	69,973,468 (GRCm38)	missense	possibly damaging	0.69
R7697:Ubr3	UTSW	2	69,897,686 (GRCm38)	missense	probably damaging	1.00
R7737:Ubr3	UTSW	2	69,991,566 (GRCm38)	missense	probably benign	0.07
R7743:Ubr3	UTSW	2	69,944,449 (GRCm38)	missense	probably benign	0.28
R7946:Ubr3	UTSW	2	69,951,395 (GRCm38)	missense	possibly damaging	0.95
R7991:Ubr3	UTSW	2	69,952,856 (GRCm38)	missense	probably damaging	1.00
R8071:Ubr3	UTSW	2	69,988,876 (GRCm38)	missense	probably damaging	0.99
R8136:Ubr3	UTSW	2	70,021,179 (GRCm38)	missense	probably damaging	1.00
R8296:Ubr3	UTSW	2	69,954,362 (GRCm38)	missense	probably null	1.00
R8313:Ubr3	UTSW	2	69,945,134 (GRCm38)	missense	probably damaging	0.99
R8675:Ubr3	UTSW	2	70,020,521 (GRCm38)	missense	probably damaging	1.00
R8834:Ubr3	UTSW	2	70,003,441 (GRCm38)	missense	probably benign
R8975:Ubr3	UTSW	2	69,922,307 (GRCm38)	missense	probably damaging	1.00
R9060:Ubr3	UTSW	2	70,009,145 (GRCm38)	nonsense	probably null
R9153:Ubr3	UTSW	2	69,965,478 (GRCm38)	missense
R9234:Ubr3	UTSW	2	69,897,646 (GRCm38)	missense	probably benign
R9293:Ubr3	UTSW	2	69,897,425 (GRCm38)	missense	probably benign	0.02
R9312:Ubr3	UTSW	2	69,954,333 (GRCm38)	missense	probably damaging	1.00
R9710:Ubr3	UTSW	2	69,897,613 (GRCm38)	missense	possibly damaging	0.94
R9762:Ubr3	UTSW	2	70,009,153 (GRCm38)	missense	probably benign	0.00
Z1088:Ubr3	UTSW	2	69,922,367 (GRCm38)	missense	probably benign	0.00
Z1177:Ubr3	UTSW	2	69,973,206 (GRCm38)	missense	probably damaging	1.00
Z1177:Ubr3	UTSW	2	69,897,666 (GRCm38)	missense	probably damaging	1.00
Z1177:Ubr3	UTSW	2	69,897,461 (GRCm38)	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