Mutagenetix > Incidental Mutation

Incidental Mutation 'R0243:Ubr3'

37823

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

038481-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0243 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69897246-70024013 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 69951405 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 642 (S642R)

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: S643R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000060159
Gene: ENSMUSG00000044308
AA Change: S643R

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: S642R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107870
Gene: ENSMUSG00000044308
AA Change: S642R

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

Meta Mutation Damage Score

0.1900

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

98% (148/151)

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: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	G	5: 63,898,463	Y181D	probably benign	Het
1110034G24Rik	T	C	2: 132,750,639	V202A	probably benign	Het
1700029H14Rik	A	G	8: 13,554,715	V196A	possibly damaging	Het
2410004B18Rik	A	G	3: 145,938,078	D7G	probably damaging	Het
2810474O19Rik	T	C	6: 149,326,241	Y262H	probably damaging	Het
Acap1	A	G	11: 69,885,426	V249A	probably damaging	Het
Acat2	A	T	17: 12,944,021	D313E	probably benign	Het
Actn4	T	C	7: 28,905,398	T325A	probably benign	Het
Adamdec1	C	T	14: 68,581,958		probably null	Het
Adat2	A	G	10: 13,553,293	T10A	probably benign	Het
Aff4	T	A	11: 53,397,858	S400R	possibly damaging	Het
Agbl2	C	T	2: 90,791,481	P104L	possibly damaging	Het
Alox12	G	T	11: 70,242,716	T594K	possibly damaging	Het
Als2	C	A	1: 59,215,387	K270N	probably benign	Het
Ankhd1	T	A	18: 36,634,734	C1235S	probably damaging	Het
Ankrd24	T	A	10: 81,634,944	I69N	probably damaging	Het
Aox4	G	A	1: 58,213,076	V37I	probably benign	Het
Arfgap3	A	G	15: 83,330,513		probably benign	Het
Arhgef4	T	A	1: 34,806,999		probably null	Het
Asic1	C	T	15: 99,698,617		probably benign	Het
Atp8b5	A	G	4: 43,366,057	N776S	probably benign	Het
Bbs7	A	G	3: 36,605,734	I184T	probably benign	Het
Bbs9	A	T	9: 22,514,001	H117L	probably damaging	Het
Bnip2	T	C	9: 69,995,505	W10R	probably damaging	Het
Brd4	G	T	17: 32,224,123	Q175K	probably benign	Het
Bysl	A	T	17: 47,606,896	V124E	possibly damaging	Het
Cadm3	A	G	1: 173,346,573		probably benign	Het
Cc2d2a	T	C	5: 43,696,638		probably benign	Het
Ccdc134	G	T	15: 82,140,946	E215D	probably damaging	Het
Celsr3	G	T	9: 108,843,724		probably benign	Het
Cntn5	T	A	9: 9,781,775	D428V	probably damaging	Het
Cog1	A	G	11: 113,656,995		probably benign	Het
Col11a2	G	T	17: 34,062,546		probably benign	Het
Cyp4f13	G	A	17: 32,924,969		probably benign	Het
D3Ertd254e	A	G	3: 36,165,154	H442R	possibly damaging	Het
Dffb	T	A	4: 153,965,378	K343*	probably null	Het
Dnah9	T	A	11: 65,911,852	I224F	possibly damaging	Het
Dolk	A	T	2: 30,286,019	C5S	probably benign	Het
Ebf1	A	T	11: 44,869,088		probably benign	Het
Elac1	A	G	18: 73,742,363	L199P	probably damaging	Het
Elmod1	A	C	9: 53,935,547		probably benign	Het
Ep400	A	C	5: 110,724,407		probably benign	Het
F10	A	T	8: 13,048,196	N133I	probably damaging	Het
Fasn	A	G	11: 120,815,315	Y1068H	probably benign	Het
Fbxo24	T	C	5: 137,624,557	E12G	probably damaging	Het
Fer	G	T	17: 64,078,946	L304F	probably benign	Het
Filip1	A	C	9: 79,819,003	L778R	probably damaging	Het
Fli1	A	T	9: 32,423,981	I385N	probably benign	Het
Fpgs	A	T	2: 32,692,494	L89*	probably null	Het
Gab2	T	G	7: 97,299,241	I346R	probably damaging	Het
Gm10764	G	A	10: 87,290,979	G83R	unknown	Het
Gpr83	G	T	9: 14,864,842	C153F	possibly damaging	Het
Gtf3c3	A	G	1: 54,403,536	L783P	possibly damaging	Het
Gys2	A	G	6: 142,472,668		probably benign	Het
Heatr9	C	T	11: 83,513,338	V378I	possibly damaging	Het
Helz	A	T	11: 107,637,914	Y920F	possibly damaging	Het
Inpp5f	A	T	7: 128,695,183	Q459L	probably damaging	Het
Ints12	T	C	3: 133,109,045	S338P	probably benign	Het
Kif13a	T	C	13: 46,791,351	T925A	probably benign	Het
Kif1a	C	T	1: 93,042,093	V1051I	probably damaging	Het
Kif7	T	A	7: 79,699,560	H1119L	possibly damaging	Het
Kmt2d	C	T	15: 98,850,137		probably benign	Het
Krt90	C	T	15: 101,562,675	G51S	possibly damaging	Het
Krtap31-2	A	T	11: 99,936,746	I135F	possibly damaging	Het
Lrp2	T	C	2: 69,428,630	E4572G	probably benign	Het
Mapk8ip1	T	C	2: 92,385,944	E493G	probably damaging	Het
Matk	T	G	10: 81,258,492	L28V	probably benign	Het
Mcc	T	A	18: 44,759,299	T83S	probably benign	Het
Mtch1	A	T	17: 29,340,106	M204K	possibly damaging	Het
Muc4	T	G	16: 32,765,746	C2622G	possibly damaging	Het
Myo5a	G	A	9: 75,186,123		probably null	Het
Myoz3	T	C	18: 60,578,951	Y185C	probably damaging	Het
Nnmt	A	G	9: 48,592,138	V196A	probably benign	Het
Nr2f2	G	C	7: 70,360,175	P52R	probably damaging	Het
Nup214	T	A	2: 31,998,057		probably benign	Het
Olfr1261	T	A	2: 89,993,806	F138I	probably benign	Het
Olfr1383	T	C	11: 49,523,912	L63P	probably damaging	Het
Olfr169	T	G	16: 19,566,294	E196D	probably damaging	Het
Pank3	T	C	11: 35,781,716		probably benign	Het
Parm1	A	T	5: 91,594,294	N174Y	possibly damaging	Het
Pcgf2	A	T	11: 97,692,418		probably null	Het
Pclo	A	T	5: 14,775,420	K4661M	unknown	Het
Pcsk7	A	C	9: 45,916,059	S375R	probably damaging	Het
Pdzrn4	G	T	15: 92,770,319	S784I	possibly damaging	Het
Pex6	T	A	17: 46,723,737		probably null	Het
Pi4ka	C	T	16: 17,297,635	V1384M	probably benign	Het
Polr3f	T	A	2: 144,536,275		probably benign	Het
Ppp2r3a	A	T	9: 101,212,284	V280E	probably damaging	Het
Prdm14	C	T	1: 13,122,448	G356R	probably damaging	Het
Prepl	A	G	17: 85,065,038		probably null	Het
Primpol	T	C	8: 46,599,814	D154G	probably damaging	Het
Ptchd4	A	C	17: 42,503,416	H736P	probably damaging	Het
Rab11fip1	A	G	8: 27,152,225	S849P	probably damaging	Het
Rap1gap	T	A	4: 137,719,351	D405E	probably damaging	Het
Rbm26	T	C	14: 105,131,938	T686A	probably benign	Het
Rint1	A	G	5: 23,816,932		probably benign	Het
Rnasek	G	T	11: 70,238,440	Y62*	probably null	Het
Rnf17	T	G	14: 56,482,084	N930K	possibly damaging	Het
Sap130	A	G	18: 31,680,681		probably benign	Het
Sectm1b	T	A	11: 121,055,785	I95F	probably damaging	Het
Sema4f	A	T	6: 82,939,466	I53N	possibly damaging	Het
Siglec1	T	C	2: 131,085,476	T137A	probably damaging	Het
Six5	A	C	7: 19,097,022		probably null	Het
Slc22a30	A	T	19: 8,345,357	I345N	probably benign	Het
Slc25a27	A	T	17: 43,643,627	M316K	probably benign	Het
Slc2a8	A	T	2: 32,980,104		probably benign	Het
Snx1	G	A	9: 66,101,326		probably benign	Het
Spag17	A	G	3: 100,085,368	T1727A	probably benign	Het
Spata20	T	C	11: 94,481,646	D633G	probably benign	Het
Spock1	C	T	13: 57,436,109		probably null	Het
Sra1	A	T	18: 36,675,706	Y291*	probably null	Het
Sspo	C	A	6: 48,493,186	P4520T	probably damaging	Het
Stat4	A	G	1: 52,011,857	N25S	probably benign	Het
Tbx18	A	T	9: 87,715,516		probably benign	Het
Tctex1d2	A	G	16: 32,426,887	D118G	probably damaging	Het
Tep1	T	A	14: 50,846,987	I187F	probably damaging	Het
Tfap2b	A	T	1: 19,234,123	I368F	probably damaging	Het
Tmtc1	A	T	6: 148,246,837	L711Q	probably damaging	Het
Tmx3	T	A	18: 90,538,489		probably benign	Het
Tnc	G	T	4: 63,970,420	T1803K	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tpgs1	C	T	10: 79,675,866	P281S	probably benign	Het
Trim45	A	G	3: 100,929,844	R499G	probably benign	Het
Tulp3	A	T	6: 128,325,958	Y299*	probably null	Het
Ube4a	A	T	9: 44,946,178		probably benign	Het
Vcpip1	A	T	1: 9,747,206	Y317*	probably null	Het
Vmn1r115	G	A	7: 20,844,402	T195I	probably benign	Het
Vmn1r226	G	A	17: 20,687,577	V24I	probably benign	Het
Wdr41	C	T	13: 95,017,406	A321V	probably damaging	Het
Wfdc5	T	C	2: 164,178,835	N44D	probably benign	Het
Wnt7b	C	A	15: 85,558,902		probably null	Het
Zfp108	T	C	7: 24,261,783	S600P	possibly damaging	Het
Zfp385b	A	G	2: 77,415,728		probably null	Het
Zfp395	T	C	14: 65,386,480	S133P	probably benign	Het
Zfp407	T	A	18: 84,558,711	M1426L	probably damaging	Het
Zfp641	T	G	15: 98,289,127	N191T	possibly damaging	Het
Zfp687	T	C	3: 95,011,553	S303G	probably damaging	Het
Zfp759	T	A	13: 67,138,813	F143I	possibly damaging	Het
Zgrf1	G	C	3: 127,615,446	E1690Q	probably damaging	Het

Other mutations in Ubr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Ubr3	APN	2	69988810	missense	probably benign	0.40
IGL00985:Ubr3	APN	2	70003431	missense	probably damaging	1.00
IGL01061:Ubr3	APN	2	69983225	missense	probably benign	0.05
IGL01325:Ubr3	APN	2	69917097	missense	possibly damaging	0.71
IGL01398:Ubr3	APN	2	69959653	missense	probably damaging	1.00
IGL01484:Ubr3	APN	2	70021544	nonsense	probably null
IGL01599:Ubr3	APN	2	69938178	missense	probably damaging	1.00
IGL01616:Ubr3	APN	2	70020484	missense	probably benign	0.14
IGL01634:Ubr3	APN	2	69973572	missense	probably benign
IGL01684:Ubr3	APN	2	70016158	nonsense	probably null
IGL01810:Ubr3	APN	2	70003465	splice site	probably null
IGL01813:Ubr3	APN	2	69951570	missense	probably benign	0.34
IGL01994:Ubr3	APN	2	70021176	missense	probably damaging	1.00
IGL02188:Ubr3	APN	2	69959611	nonsense	probably null
IGL02318:Ubr3	APN	2	69979397	missense	probably damaging	1.00
IGL02379:Ubr3	APN	2	69948488	missense	possibly damaging	0.91
IGL02635:Ubr3	APN	2	70020483	missense	probably damaging	0.96
IGL02858:Ubr3	APN	2	69952859	missense	probably damaging	1.00
IGL03140:Ubr3	APN	2	69970189	missense	probably damaging	1.00
IGL03343:Ubr3	APN	2	69973146	splice site	probably benign
Hyrax	UTSW	2	69952868	missense	probably benign	0.32
manatee	UTSW	2	69979386	nonsense	probably null
sea_cow	UTSW	2	69959669	splice site	probably null
R0094:Ubr3	UTSW	2	69951362	missense	probably damaging	1.00
R0094:Ubr3	UTSW	2	69951362	missense	probably damaging	1.00
R0122:Ubr3	UTSW	2	69979412	missense	probably damaging	1.00
R0710:Ubr3	UTSW	2	69952837	missense	probably damaging	1.00
R0787:Ubr3	UTSW	2	69951421	splice site	probably benign
R1137:Ubr3	UTSW	2	69938315	splice site	probably benign
R1191:Ubr3	UTSW	2	70021181	nonsense	probably null
R1416:Ubr3	UTSW	2	69945071	missense	probably damaging	1.00
R1623:Ubr3	UTSW	2	69977723	nonsense	probably null
R1735:Ubr3	UTSW	2	70009129	missense	probably damaging	1.00
R1789:Ubr3	UTSW	2	70016367	missense	possibly damaging	0.87
R1793:Ubr3	UTSW	2	70000551	splice site	probably benign
R1932:Ubr3	UTSW	2	69953476	splice site	probably null
R2042:Ubr3	UTSW	2	69977774	nonsense	probably null
R2085:Ubr3	UTSW	2	69953764	missense	probably damaging	1.00
R2090:Ubr3	UTSW	2	69936017	missense	probably damaging	1.00
R2112:Ubr3	UTSW	2	69977792	missense	possibly damaging	0.73
R2173:Ubr3	UTSW	2	69897399	missense	probably benign
R2215:Ubr3	UTSW	2	69979317	critical splice acceptor site	probably null
R2273:Ubr3	UTSW	2	70016341	missense	probably benign	0.11
R2274:Ubr3	UTSW	2	70016341	missense	probably benign	0.11
R2275:Ubr3	UTSW	2	70016341	missense	probably benign	0.11
R2292:Ubr3	UTSW	2	69897260	unclassified	probably benign
R2447:Ubr3	UTSW	2	70003380	missense	probably damaging	1.00
R2504:Ubr3	UTSW	2	69938198	missense	probably damaging	0.99
R2517:Ubr3	UTSW	2	69936018	missense	probably damaging	1.00
R2901:Ubr3	UTSW	2	70016192	missense	possibly damaging	0.89
R3109:Ubr3	UTSW	2	69988840	missense	probably damaging	1.00
R3737:Ubr3	UTSW	2	69971234	critical splice donor site	probably null
R3793:Ubr3	UTSW	2	69917181	missense	possibly damaging	0.95
R3821:Ubr3	UTSW	2	69993813	critical splice donor site	probably null
R3918:Ubr3	UTSW	2	70016130	critical splice acceptor site	probably null
R4157:Ubr3	UTSW	2	69959669	splice site	probably null
R4235:Ubr3	UTSW	2	70016385	nonsense	probably null
R4276:Ubr3	UTSW	2	69938387	nonsense	probably null
R4544:Ubr3	UTSW	2	69956093	missense	probably benign	0.18
R4678:Ubr3	UTSW	2	69935919	missense	probably damaging	1.00
R4707:Ubr3	UTSW	2	69938370	intron	probably benign
R4785:Ubr3	UTSW	2	69959603	missense	probably damaging	1.00
R4872:Ubr3	UTSW	2	69970183	missense	probably damaging	1.00
R4887:Ubr3	UTSW	2	70013131	missense	probably damaging	0.99
R4920:Ubr3	UTSW	2	69952868	missense	probably benign	0.32
R4989:Ubr3	UTSW	2	70020446	splice site	probably benign
R5104:Ubr3	UTSW	2	69938256	missense	probably damaging	0.98
R5134:Ubr3	UTSW	2	70020446	splice site	probably benign
R5137:Ubr3	UTSW	2	69973335	missense	probably damaging	1.00
R5174:Ubr3	UTSW	2	70009162	missense	probably damaging	1.00
R5195:Ubr3	UTSW	2	69956034	missense	probably benign	0.00
R5437:Ubr3	UTSW	2	69944390	missense	probably damaging	1.00
R5539:Ubr3	UTSW	2	70020533	missense	probably damaging	1.00
R5781:Ubr3	UTSW	2	70016244	splice site	probably null
R5809:Ubr3	UTSW	2	69965511	missense	possibly damaging	0.90
R5913:Ubr3	UTSW	2	70021215	missense	probably damaging	1.00
R5969:Ubr3	UTSW	2	69979386	nonsense	probably null
R6136:Ubr3	UTSW	2	69993763	missense	probably benign	0.26
R6140:Ubr3	UTSW	2	69973329	missense	probably benign	0.09
R6185:Ubr3	UTSW	2	69938277	missense	probably damaging	0.98
R6220:Ubr3	UTSW	2	70020475	missense	probably damaging	1.00
R6258:Ubr3	UTSW	2	69982864	splice site	probably null
R6319:Ubr3	UTSW	2	69973414	missense	probably benign	0.00
R6322:Ubr3	UTSW	2	69956085	nonsense	probably null
R6470:Ubr3	UTSW	2	69965460	missense	probably benign	0.02
R6477:Ubr3	UTSW	2	69979429	nonsense	probably null
R6702:Ubr3	UTSW	2	69956049	missense	probably benign	0.23
R6709:Ubr3	UTSW	2	70013092	missense	probably damaging	1.00
R6803:Ubr3	UTSW	2	69936024	critical splice donor site	probably null
R6806:Ubr3	UTSW	2	69955964	splice site	probably benign
R6834:Ubr3	UTSW	2	70000481	missense	possibly damaging	0.63
R6841:Ubr3	UTSW	2	70020625	missense	probably damaging	1.00
R6847:Ubr3	UTSW	2	69983128	missense	probably damaging	1.00
R6889:Ubr3	UTSW	2	69944300	missense	possibly damaging	0.70
R7065:Ubr3	UTSW	2	69953705	missense	probably damaging	1.00
R7102:Ubr3	UTSW	2	69897822	missense	probably damaging	1.00
R7156:Ubr3	UTSW	2	70021623	missense	probably damaging	1.00
R7209:Ubr3	UTSW	2	70016134	missense	probably benign	0.01
R7273:Ubr3	UTSW	2	69979333	missense	probably damaging	0.97
R7314:Ubr3	UTSW	2	69991600	missense	probably damaging	1.00
R7422:Ubr3	UTSW	2	69953542	critical splice donor site	probably null
R7584:Ubr3	UTSW	2	69991503	missense	probably damaging	1.00
R7588:Ubr3	UTSW	2	69971169	missense	probably damaging	1.00
R7597:Ubr3	UTSW	2	69973468	missense	possibly damaging	0.69
R7697:Ubr3	UTSW	2	69897686	missense	probably damaging	1.00
R7737:Ubr3	UTSW	2	69991566	missense	probably benign	0.07
R7743:Ubr3	UTSW	2	69944449	missense	probably benign	0.28
R7946:Ubr3	UTSW	2	69951395	missense	possibly damaging	0.95
R7991:Ubr3	UTSW	2	69952856	missense	probably damaging	1.00
R8071:Ubr3	UTSW	2	69988876	missense	probably damaging	0.99
R8136:Ubr3	UTSW	2	70021179	missense	probably damaging	1.00
R8296:Ubr3	UTSW	2	69954362	missense	probably null	1.00
R8313:Ubr3	UTSW	2	69945134	missense	probably damaging	0.99
R8675:Ubr3	UTSW	2	70020521	missense	probably damaging	1.00
R8834:Ubr3	UTSW	2	70003441	missense	probably benign
R8975:Ubr3	UTSW	2	69922307	missense	probably damaging	1.00
R9060:Ubr3	UTSW	2	70009145	nonsense	probably null
R9153:Ubr3	UTSW	2	69965478	missense
R9234:Ubr3	UTSW	2	69897646	missense	probably benign
R9293:Ubr3	UTSW	2	69897425	missense	probably benign	0.02
R9312:Ubr3	UTSW	2	69954333	missense	probably damaging	1.00
R9710:Ubr3	UTSW	2	69897613	missense	possibly damaging	0.94
R9762:Ubr3	UTSW	2	70009153	missense	probably benign	0.00
Z1088:Ubr3	UTSW	2	69922367	missense	probably benign	0.00
Z1177:Ubr3	UTSW	2	69897461	missense	probably benign	0.17
Z1177:Ubr3	UTSW	2	69897666	missense	probably damaging	1.00
Z1177:Ubr3	UTSW	2	69973206	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCAGCAGAATGTAGGGGCATAGATAG -3'
(R):5'- TTTGGAAAATGCAGTGCTTCCTTTTCAT -3'

Sequencing Primer
(F):5'- GGTTTTTGAAACGTCAGAACTTAG -3'
(R):5'- TGAGTTAACCCAGAAATCCTATTCC -3'

Posted On

2013-05-23