Mutagenetix > Incidental Mutation

Incidental Mutation 'R7597:Ubr3'

587764

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

045672-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7597 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69727590-69854357 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69803812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1135 (V1135A)

Ref Sequence

ENSEMBL: ENSMUSP00000060159 (fasta)

Gene Model

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

AlphaFold

Q5U430

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055758
AA Change: V1135A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000060159
Gene: ENSMUSG00000044308
AA Change: V1135A

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

possibly damaging
Transcript: ENSMUST00000112251
AA Change: V1134A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107870
Gene: ENSMUSG00000044308
AA Change: V1134A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,644,661 (GRCm39)	L838P	probably damaging	Het
Adam34l	T	G	8: 44,078,281 (GRCm39)	N648H	probably damaging	Het
Adgrl4	T	A	3: 151,248,895 (GRCm39)	F728I	probably damaging	Het
Asap1	A	G	15: 64,184,304 (GRCm39)	V7A	probably benign	Het
B230104I21Rik	A	G	4: 154,434,050 (GRCm39)		probably benign	Het
C4b	A	T	17: 34,958,649 (GRCm39)	S562T	probably benign	Het
Carmil2	A	G	8: 106,422,121 (GRCm39)	Y1130C	probably damaging	Het
Cit	A	T	5: 116,024,740 (GRCm39)	K328*	probably null	Het
Col18a1	T	C	10: 76,949,137 (GRCm39)	D125G	unknown	Het
Cxadr	T	C	16: 78,125,996 (GRCm39)	V122A	probably damaging	Het
Cyp2d22	G	A	15: 82,260,053 (GRCm39)	P44S	probably damaging	Het
Elapor1	A	G	3: 108,378,745 (GRCm39)	V351A	possibly damaging	Het
Gabrr1	A	G	4: 33,148,964 (GRCm39)	T74A	probably benign	Het
Gfm2	C	A	13: 97,309,086 (GRCm39)	A597E	probably benign	Het
H2-T22	T	C	17: 36,351,408 (GRCm39)	Y274C	probably damaging	Het
Has2	C	A	15: 56,531,817 (GRCm39)	W299C	probably damaging	Het
Hsd17b6	A	G	10: 127,827,227 (GRCm39)	S282P	probably benign	Het
Itga1	T	C	13: 115,110,676 (GRCm39)	I972V	probably benign	Het
Itih5	T	A	2: 10,254,187 (GRCm39)	Y813N	probably damaging	Het
Kctd16	A	G	18: 40,663,848 (GRCm39)	T326A	possibly damaging	Het
Klhdc1	T	C	12: 69,316,642 (GRCm39)	S342P	probably damaging	Het
Kmt2a	T	C	9: 44,742,650 (GRCm39)	I1682M	unknown	Het
Lamc1	T	C	1: 153,116,200 (GRCm39)	K994E	possibly damaging	Het
Lig1	T	G	7: 13,030,270 (GRCm39)	S416A	probably benign	Het
Lims1	A	G	10: 58,248,263 (GRCm39)	E240G	probably damaging	Het
Lnpk	T	C	2: 74,399,316 (GRCm39)	M76V	probably benign	Het
Lrrtm4	T	A	6: 79,999,428 (GRCm39)	L280*	probably null	Het
Mfap3l	A	T	8: 61,124,315 (GRCm39)	I186F	possibly damaging	Het
Mta3	T	C	17: 84,083,011 (GRCm39)	F234L	probably benign	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Mybpc2	C	T	7: 44,159,223 (GRCm39)	G609D	probably damaging	Het
Naga	A	T	15: 82,219,035 (GRCm39)	D237E	probably benign	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nbn	G	A	4: 15,963,911 (GRCm39)	S104N	probably damaging	Het
Nipsnap2	T	C	5: 129,816,637 (GRCm39)	L60P	probably damaging	Het
Or4f47	T	A	2: 111,972,925 (GRCm39)	F212I	probably benign	Het
Or8b1b	G	A	9: 38,375,802 (GRCm39)	G155D	probably benign	Het
Pclo	C	T	5: 14,727,601 (GRCm39)	T2153I	unknown	Het
Pclo	A	C	5: 14,908,869 (GRCm39)	K5059T	unknown	Het
Pdlim2	C	A	14: 70,403,645 (GRCm39)	A256S	possibly damaging	Het
Pira2	T	C	7: 3,845,460 (GRCm39)	D308G	probably damaging	Het
Proc	G	T	18: 32,256,689 (GRCm39)	A326E	probably damaging	Het
Rab40b	T	C	11: 121,248,709 (GRCm39)	D182G	probably benign	Het
Rai14	A	G	15: 10,574,937 (GRCm39)	S703P	possibly damaging	Het
Rdx	C	T	9: 51,972,196 (GRCm39)	P2L	possibly damaging	Het
Recql5	T	C	11: 115,819,207 (GRCm39)	K120E	probably benign	Het
Rev3l	C	T	10: 39,698,880 (GRCm39)	R1126C	probably damaging	Het
Slc2a6	G	T	2: 26,917,195 (GRCm39)	D70E	possibly damaging	Het
Slc6a17	A	T	3: 107,378,668 (GRCm39)	D671E	possibly damaging	Het
Slc7a8	G	A	14: 55,018,857 (GRCm39)		probably benign	Het
Srpk2	A	G	5: 23,753,517 (GRCm39)	Y79H	possibly damaging	Het
Traf3ip1	T	A	1: 91,439,167 (GRCm39)	I361K	probably damaging	Het
Trpm8	A	G	1: 88,255,918 (GRCm39)	Y191C	probably damaging	Het
Usp12	C	A	5: 146,691,179 (GRCm39)		probably null	Het
Vmn1r44	C	A	6: 89,870,818 (GRCm39)	P188Q	probably benign	Het
Xirp2	T	A	2: 67,356,099 (GRCm39)	V3620D	possibly damaging	Het
Zcchc14	A	T	8: 122,335,239 (GRCm39)	S294T	unknown	Het
Zfp800	T	C	6: 28,260,764 (GRCm39)	D5G	probably damaging	Het
Zfp87	C	T	13: 67,665,412 (GRCm39)	R350Q	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
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
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
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'- CAAGTAAATGGTCAGCTCCTGG -3'
(R):5'- CCAAGTCATCAACTGCTCTGTAC -3'

Sequencing Primer
(F):5'- AAATGGTCAGCTCCTGGTTCCTC -3'
(R):5'- GTCATCAACTGCTCTGTACATATTAG -3'

Posted On

2019-10-24