Mutagenetix > Incidental Mutation

Incidental Mutation 'R2275:Ubr3'

242701

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

040274-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2275 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69897246-70024013 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70016341 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1636 (V1636A)

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: V1633A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000060159
Gene: ENSMUSG00000044308
AA Change: V1633A

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: V1636A

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107870
Gene: ENSMUSG00000044308
AA Change: V1636A

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013F07Rik	A	G	3: 108,542,503	N33D	possibly damaging	Het
2300003K06Rik	A	T	11: 99,837,841	C59S	possibly damaging	Het
Abca5	A	T	11: 110,275,281	N1556K	possibly damaging	Het
Ackr1	T	C	1: 173,332,485	N156D	probably benign	Het
Aco2	C	T	15: 81,895,264	R57C	probably benign	Het
Adamtsl3	A	T	7: 82,606,558	S1593C	probably benign	Het
Adgrb2	G	A	4: 130,006,854	G333D	probably damaging	Het
Arhgef7	T	A	8: 11,815,010	F374Y	possibly damaging	Het
Armc4	C	A	18: 7,223,676	G456W	probably benign	Het
Atxn7	T	A	14: 14,013,268	M62K	possibly damaging	Het
C87436	G	A	6: 86,445,600	R52H	probably damaging	Het
Cacna1g	T	A	11: 94,415,936	E1842V	probably damaging	Het
Cdh4	T	C	2: 179,890,847	S701P	probably damaging	Het
Cdr2	A	T	7: 120,958,509	H264Q	possibly damaging	Het
Cecr2	C	T	6: 120,756,741	S563L	probably benign	Het
Col12a1	A	T	9: 79,635,427	V2352E	probably damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Csad	G	T	15: 102,187,122	R167S	probably damaging	Het
Dnlz	A	T	2: 26,351,471	C82S	probably damaging	Het
Ehmt2	T	A	17: 34,910,715	N951K	possibly damaging	Het
Emilin1	C	T	5: 30,917,738	P441L	possibly damaging	Het
Enpp2	A	C	15: 54,897,794	Y221D	probably damaging	Het
Exoc3l	A	T	8: 105,290,447		probably null	Het
F11	T	C	8: 45,252,147	D119G	possibly damaging	Het
Faiml	T	C	9: 99,229,559	Y149C	probably benign	Het
Fn1	C	T	1: 71,613,943	G1296R	probably null	Het
Glg1	A	T	8: 111,168,721	Y819*	probably null	Het
Gm11568	A	G	11: 99,858,244	S92G	unknown	Het
Gm28042	A	C	2: 120,036,829	Q465P	probably damaging	Het
Gpatch1	A	T	7: 35,288,678	S678T	probably benign	Het
Gpr158	A	T	2: 21,826,863	M925L	probably benign	Het
Hecw1	T	C	13: 14,346,068	T195A	probably benign	Het
Hoxd1	A	G	2: 74,764,157	K252R	probably damaging	Het
Iqck	G	A	7: 118,899,657	D173N	possibly damaging	Het
Kcnh1	T	G	1: 192,337,521	V358G	probably damaging	Het
Kifap3	T	A	1: 163,868,758	V652D	possibly damaging	Het
Knl1	C	A	2: 119,072,281	Q1488K	probably damaging	Het
Map4k1	T	A	7: 29,001,957	H729Q	probably damaging	Het
March1	T	A	8: 66,387,499	N311K	probably benign	Het
Mypn	A	G	10: 63,131,069	F943L	probably damaging	Het
Nkpd1	A	G	7: 19,523,897	I534V	probably benign	Het
Nrarp	T	C	2: 25,181,409	V100A	possibly damaging	Het
Nt5c1a	T	C	4: 123,216,080	F324S	probably damaging	Het
Ntrk2	T	A	13: 58,861,351	Y319N	probably damaging	Het
Olfr1170	A	G	2: 88,224,823	F70L	probably benign	Het
Parg	A	G	14: 32,295,238	D384G	probably damaging	Het
Pde7b	T	A	10: 20,400,419	*460L	probably null	Het
Pigr	G	T	1: 130,846,470	V396L	probably benign	Het
Pkhd1	A	G	1: 20,200,849	I3160T	possibly damaging	Het
Ppl	T	C	16: 5,094,552	S722G	probably benign	Het
Ppp1r26	A	G	2: 28,452,701	E781G	possibly damaging	Het
Rptor	T	A	11: 119,756,322	C246*	probably null	Het
Rusc2	G	A	4: 43,416,260	R522H	probably damaging	Het
Senp7	T	C	16: 56,184,783	S927P	probably damaging	Het
Serpinb6d	A	T	13: 33,671,428	M362L	probably benign	Het
Setx	GTGGCT	GT	2: 29,154,061	1814	probably null	Het
Slc12a3	T	A	8: 94,333,287	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,466,423	S101A	probably benign	Het
Slc4a8	A	G	15: 100,807,402	M830V	probably benign	Het
Slco4a1	T	C	2: 180,464,736	L237P	possibly damaging	Het
Sned1	T	A	1: 93,281,642		probably null	Het
Tia1	A	G	6: 86,427,677	N298S	probably benign	Het
Tsr1	A	T	11: 74,904,827		probably null	Het
Ttc6	G	A	12: 57,702,298	V1339I	probably benign	Het
Tyrp1	A	T	4: 80,837,534	E180V	probably damaging	Het
Usp1	T	C	4: 98,929,842	L139P	probably damaging	Het
Vmn1r228	A	G	17: 20,776,545	L237P	probably damaging	Het
Vmn1r232	A	G	17: 20,914,203	L45P	probably benign	Het
Vmn2r2	T	C	3: 64,116,509	R884G	probably benign	Het
Vmn2r60	T	A	7: 42,136,827	Y351*	probably null	Het
Zbtb7a	G	A	10: 81,144,997	V342I	possibly damaging	Het
Zdhhc11	C	A	13: 73,973,752	N127K	probably damaging	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
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
R6220:Ubr3	UTSW	2	70,020,475 (GRCm38)	missense	probably damaging	1.00
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'- CCCAGGATACATGTGATGCAG -3'
(R):5'- TCTCCTATGCATCAGTATGGTTTGG -3'

Sequencing Primer
(F):5'- AAAGTGTTACGAAGTGCTGTTGAGC -3'
(R):5'- GGTTTGGAAATTCGCCCACTAGAAC -3'

Posted On

2014-10-16