Mutagenetix > Incidental Mutation

Incidental Mutation 'R6709:Ubr3'

529035

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

044827-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6709 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69727590-69854357 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 69843436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 1559 (H1559N)

Ref Sequence

ENSEMBL: ENSMUSP00000107870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055758] [ENSMUST00000112251] [ENSMUST00000152610]

AlphaFold

Q5U430

Predicted Effect

probably damaging
Transcript: ENSMUST00000055758
AA Change: H1556N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060159
Gene: ENSMUSG00000044308
AA Change: H1556N

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: H1559N

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

SMART Domains

Protein: ENSMUSP00000107870
Gene: ENSMUSG00000044308
AA Change: H1559N

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: ENSMUST00000125608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150301

Predicted Effect

probably benign
Transcript: ENSMUST00000152610

SMART Domains

Protein: ENSMUSP00000122027
Gene: ENSMUSG00000044308

Domain	Start	End	E-Value	Type
Blast:RING	1	57	1e-34	BLAST
SCOP:d1jm7a_	20	84	4e-3	SMART

Meta Mutation Damage Score

0.2530

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (58/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	G	5: 137,552,779 (GRCm39)	D36G	possibly damaging	Het
Actn1	T	A	12: 80,240,418 (GRCm39)	D223V	probably damaging	Het
Adgre1	A	T	17: 57,713,917 (GRCm39)	N201Y	probably benign	Het
Agbl4	T	A	4: 111,423,979 (GRCm39)		probably benign	Het
Atg4d	T	C	9: 21,179,944 (GRCm39)	Y272H	probably damaging	Het
Ccdc39	T	C	3: 33,884,242 (GRCm39)	T367A	possibly damaging	Het
Ceacam2	T	C	7: 25,229,262 (GRCm39)	T293A	possibly damaging	Het
Col19a1	C	T	1: 24,321,577 (GRCm39)	G977E	probably damaging	Het
Csnka2ip	A	T	16: 64,298,932 (GRCm39)	H33Q	possibly damaging	Het
Cyp3a44	A	T	5: 145,714,902 (GRCm39)		probably null	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 24,136,572 (GRCm39)		probably benign	Het
Dnah12	A	G	14: 26,594,706 (GRCm39)	D3492G	probably damaging	Het
Eepd1	A	T	9: 25,394,164 (GRCm39)	T143S	probably benign	Het
Eml2	A	G	7: 18,940,136 (GRCm39)	*650W	probably null	Het
Etv1	C	T	12: 38,833,796 (GRCm39)	T19I	possibly damaging	Het
Fam133b	T	C	5: 3,619,059 (GRCm39)		probably benign	Het
Fgd4	T	C	16: 16,302,345 (GRCm39)	H70R	probably benign	Het
Galnt11	C	T	5: 25,453,851 (GRCm39)	R26C	probably damaging	Het
Gm136	T	A	4: 34,755,884 (GRCm39)	Y43F	probably damaging	Het
Gm17409	A	T	2: 58,361,088 (GRCm39)		probably null	Het
Gm5591	A	G	7: 38,221,499 (GRCm39)	I190T	probably benign	Het
H1f9	T	A	11: 94,858,772 (GRCm39)	S22R	possibly damaging	Het
Htra1	C	T	7: 130,537,948 (GRCm39)		probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ints8	A	T	4: 11,221,117 (GRCm39)	Y753N	possibly damaging	Het
Itprid2	A	G	2: 79,475,276 (GRCm39)	T412A	probably benign	Het
L3mbtl3	G	A	10: 26,158,695 (GRCm39)	T651I	unknown	Het
Ltb4r2	A	C	14: 55,999,990 (GRCm39)	T204P	possibly damaging	Het
Ltbp3	G	A	19: 5,797,885 (GRCm39)		probably null	Het
Mlxip	A	T	5: 123,585,339 (GRCm39)	I616F	possibly damaging	Het
Mpz	A	T	1: 170,978,301 (GRCm39)		probably benign	Het
Myh11	A	G	16: 14,041,358 (GRCm39)		probably null	Het
Myo7a	A	G	7: 97,703,906 (GRCm39)	L1949P	probably damaging	Het
Olfm2	A	G	9: 20,584,009 (GRCm39)	Y116H	probably damaging	Het
Or2t47	T	C	11: 58,442,862 (GRCm39)	M68V	probably benign	Het
Or6s1	A	T	14: 51,308,286 (GRCm39)	L188H	probably damaging	Het
Pde4d	T	G	13: 110,084,813 (GRCm39)	L470R	probably damaging	Het
Plxna2	T	A	1: 194,472,074 (GRCm39)	N1013K	probably benign	Het
Ptpn13	A	C	5: 103,734,622 (GRCm39)	Q2118P	probably benign	Het
Pwwp2a	C	G	11: 43,595,554 (GRCm39)	L240V	probably damaging	Het
Reep2	T	C	18: 34,979,263 (GRCm39)	L196P	probably benign	Het
Shank1	A	T	7: 44,003,600 (GRCm39)	N1765I	probably benign	Het
Slc25a13	A	G	6: 6,073,440 (GRCm39)	S473P	possibly damaging	Het
Slc33a1	C	A	3: 63,852,122 (GRCm39)	M450I	possibly damaging	Het
Slc45a2	A	G	15: 11,001,216 (GRCm39)	Y105C	possibly damaging	Het
Slc4a11	A	T	2: 130,526,616 (GRCm39)	L812Q	probably damaging	Het
Sox6	T	C	7: 115,301,024 (GRCm39)		probably null	Het
Sv2b	A	T	7: 74,773,887 (GRCm39)	M528K	probably benign	Het
Syngr4	A	G	7: 45,538,122 (GRCm39)	V82A	probably benign	Het
Tmem185b	G	A	1: 119,454,604 (GRCm39)	V122I	probably benign	Het
Trdn	A	G	10: 33,340,587 (GRCm39)	D607G	probably benign	Het
Trim10	T	A	17: 37,183,262 (GRCm39)	I186N	probably damaging	Het
Trp53i11	A	T	2: 93,030,163 (GRCm39)	M157L	probably benign	Het
Usp25	A	C	16: 76,880,820 (GRCm39)	E727A	probably benign	Het
Vmn2r42	T	A	7: 8,195,618 (GRCm39)	R509S	probably benign	Het
Vmn2r69	T	C	7: 85,061,069 (GRCm39)	N172D	probably benign	Het
Zfp14	T	C	7: 29,737,557 (GRCm39)	Y476C	probably damaging	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
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'- ATGCTACAGCTGAAGCGAGG -3'
(R):5'- AATGGCCTCCCCTGACTATG -3'

Sequencing Primer
(F):5'- TTTATGTCACATATTTGGTCGCAGC -3'
(R):5'- CTCCCCTGACTATGAAGTGAGAG -3'

Posted On

2018-07-24