Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00785:Ubr2'

14685

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubr2

Ensembl Gene

ENSMUSG00000023977

Gene Name

ubiquitin protein ligase E3 component n-recognin 2

Synonyms

ENSMUSG00000043296, E130209G04Rik, 9930021A08Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.891) question?

Stock #

IGL00785

Quality Score

Status

Chromosome

Chromosomal Location

47239221-47321482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 47255791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1370 (T1370I)

Ref Sequence

ENSEMBL: ENSMUSP00000108963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113335] [ENSMUST00000113337]

AlphaFold

Q6WKZ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113335
AA Change: T1370I

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108961
Gene: ENSMUSG00000023977
AA Change: T1370I

Domain	Start	End	E-Value	Type
ZnF_UBR1	97	167	3.14e-32	SMART
Pfam:ClpS	221	302	2.4e-23	PFAM
low complexity region	635	646	N/A	INTRINSIC
low complexity region	749	760	N/A	INTRINSIC
low complexity region	872	886	N/A	INTRINSIC
coiled coil region	1019	1046	N/A	INTRINSIC
RING	1108	1213	7.66e-1	SMART
low complexity region	1221	1235	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113337
AA Change: T1370I

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108963
Gene: ENSMUSG00000023977
AA Change: T1370I

Domain	Start	End	E-Value	Type
ZnF_UBR1	97	167	3.14e-32	SMART
Pfam:ClpS	222	301	6.2e-26	PFAM
low complexity region	635	646	N/A	INTRINSIC
low complexity region	749	760	N/A	INTRINSIC
low complexity region	872	886	N/A	INTRINSIC
coiled coil region	1019	1046	N/A	INTRINSIC
RING	1108	1213	7.66e-1	SMART
low complexity region	1221	1235	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225712

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: On a mixed genetic background, female homozygotes for a targeted null mutation exhibit embryonic lethality, while males are viable, but sterile due to postnatal testicular degeneration. On an inbred background, both genders die in utero. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cpt1a	T	A	19: 3,416,389 (GRCm39)	N313K	possibly damaging	Het
Crb2	G	A	2: 37,682,076 (GRCm39)	C819Y	probably damaging	Het
Ctnna3	T	G	10: 63,402,612 (GRCm39)	F108V	probably damaging	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Fam120a	A	G	13: 49,042,609 (GRCm39)	S931P	probably benign	Het
Ganc	A	C	2: 120,272,079 (GRCm39)	Y579S	probably damaging	Het
Hsd17b12	A	G	2: 93,875,759 (GRCm39)	S189P	probably damaging	Het
Itprid2	A	G	2: 79,487,612 (GRCm39)	E565G	possibly damaging	Het
Kif11	C	A	19: 37,392,745 (GRCm39)	L559I	probably benign	Het
Kif11	T	C	19: 37,392,746 (GRCm39)	L559P	probably damaging	Het
Luc7l2	T	C	6: 38,575,721 (GRCm39)	S261P	possibly damaging	Het
Myo7a	T	C	7: 97,703,555 (GRCm39)	K2035E	probably damaging	Het
Nbea	A	G	3: 55,862,814 (GRCm39)	S1813P	probably benign	Het
Osbpl8	A	G	10: 111,108,905 (GRCm39)	T396A	probably benign	Het
Ppfibp2	A	G	7: 107,337,094 (GRCm39)	T560A	probably benign	Het
Rictor	A	C	15: 6,806,431 (GRCm39)	Q683P	probably damaging	Het
Ryr3	A	T	2: 112,666,448 (GRCm39)	H1519Q	possibly damaging	Het
Slc34a2	A	T	5: 53,222,950 (GRCm39)	I347F	probably benign	Het
Sned1	C	A	1: 93,201,891 (GRCm39)		probably benign	Het
St7l	A	G	3: 104,780,895 (GRCm39)		probably benign	Het
Trmu	T	A	15: 85,767,032 (GRCm39)	D80E	probably benign	Het
Trpv4	A	G	5: 114,766,686 (GRCm39)	V620A	probably damaging	Het
Xpo5	T	C	17: 46,515,618 (GRCm39)	V48A	probably damaging	Het
Zfp638	T	C	6: 83,906,146 (GRCm39)	W104R	probably damaging	Het

Other mutations in Ubr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Ubr2	APN	17	47,296,986 (GRCm39)	splice site	probably benign
IGL00332:Ubr2	APN	17	47,301,916 (GRCm39)	critical splice donor site	probably null
IGL00518:Ubr2	APN	17	47,303,922 (GRCm39)	missense	probably damaging	1.00
IGL00693:Ubr2	APN	17	47,283,907 (GRCm39)	missense	probably benign	0.01
IGL01144:Ubr2	APN	17	47,268,247 (GRCm39)	missense	probably damaging	1.00
IGL01459:Ubr2	APN	17	47,241,435 (GRCm39)	splice site	probably benign
IGL01637:Ubr2	APN	17	47,267,580 (GRCm39)	missense	probably damaging	1.00
IGL01710:Ubr2	APN	17	47,254,335 (GRCm39)	missense	probably benign	0.00
IGL01726:Ubr2	APN	17	47,303,907 (GRCm39)	splice site	probably benign
IGL01925:Ubr2	APN	17	47,265,875 (GRCm39)	missense	possibly damaging	0.92
IGL01960:Ubr2	APN	17	47,284,893 (GRCm39)	missense	probably benign	0.45
IGL02170:Ubr2	APN	17	47,278,123 (GRCm39)	missense	probably benign	0.05
IGL02308:Ubr2	APN	17	47,245,119 (GRCm39)	missense	probably damaging	1.00
IGL02387:Ubr2	APN	17	47,274,076 (GRCm39)	missense	probably benign
IGL02696:Ubr2	APN	17	47,274,691 (GRCm39)	missense	probably benign
IGL02726:Ubr2	APN	17	47,283,847 (GRCm39)	missense	probably damaging	1.00
IGL02750:Ubr2	APN	17	47,280,208 (GRCm39)	missense	probably benign	0.00
IGL02934:Ubr2	APN	17	47,268,266 (GRCm39)	missense	possibly damaging	0.50
IGL02959:Ubr2	APN	17	47,286,877 (GRCm39)	missense	probably damaging	0.96
IGL03018:Ubr2	APN	17	47,264,972 (GRCm39)	missense	possibly damaging	0.64
IGL03343:Ubr2	APN	17	47,262,844 (GRCm39)	missense	probably benign	0.00
PIT4280001:Ubr2	UTSW	17	47,255,789 (GRCm39)	missense	probably damaging	1.00
R0044:Ubr2	UTSW	17	47,303,911 (GRCm39)	splice site	probably benign
R0044:Ubr2	UTSW	17	47,303,911 (GRCm39)	splice site	probably benign
R0446:Ubr2	UTSW	17	47,294,224 (GRCm39)	missense	probably damaging	1.00
R0513:Ubr2	UTSW	17	47,297,705 (GRCm39)	nonsense	probably null
R0565:Ubr2	UTSW	17	47,266,812 (GRCm39)	missense	probably damaging	1.00
R0600:Ubr2	UTSW	17	47,278,174 (GRCm39)	missense	probably damaging	0.99
R0690:Ubr2	UTSW	17	47,249,579 (GRCm39)	missense	probably damaging	0.97
R0710:Ubr2	UTSW	17	47,249,607 (GRCm39)	missense	probably damaging	0.96
R0761:Ubr2	UTSW	17	47,294,242 (GRCm39)	missense	probably damaging	1.00
R0798:Ubr2	UTSW	17	47,280,102 (GRCm39)	splice site	probably benign
R0862:Ubr2	UTSW	17	47,278,009 (GRCm39)	nonsense	probably null
R0947:Ubr2	UTSW	17	47,252,038 (GRCm39)	missense	probably damaging	0.99
R0972:Ubr2	UTSW	17	47,245,187 (GRCm39)	splice site	probably null
R1500:Ubr2	UTSW	17	47,297,615 (GRCm39)	missense	possibly damaging	0.79
R1514:Ubr2	UTSW	17	47,311,749 (GRCm39)	missense	probably damaging	1.00
R1533:Ubr2	UTSW	17	47,278,173 (GRCm39)	nonsense	probably null
R1554:Ubr2	UTSW	17	47,283,877 (GRCm39)	missense	probably benign
R1575:Ubr2	UTSW	17	47,243,418 (GRCm39)	missense	probably damaging	1.00
R1602:Ubr2	UTSW	17	47,251,987 (GRCm39)	missense	probably benign	0.30
R1941:Ubr2	UTSW	17	47,284,952 (GRCm39)	missense	probably damaging	1.00
R1966:Ubr2	UTSW	17	47,265,845 (GRCm39)	missense	probably benign	0.05
R2041:Ubr2	UTSW	17	47,296,973 (GRCm39)	missense	probably damaging	1.00
R2067:Ubr2	UTSW	17	47,274,071 (GRCm39)	critical splice donor site	probably null
R2111:Ubr2	UTSW	17	47,274,071 (GRCm39)	critical splice donor site	probably null
R2189:Ubr2	UTSW	17	47,254,290 (GRCm39)	missense	probably benign	0.01
R2219:Ubr2	UTSW	17	47,296,968 (GRCm39)	missense	possibly damaging	0.94
R2307:Ubr2	UTSW	17	47,277,141 (GRCm39)	nonsense	probably null
R3426:Ubr2	UTSW	17	47,279,365 (GRCm39)	missense	probably damaging	1.00
R3428:Ubr2	UTSW	17	47,279,365 (GRCm39)	missense	probably damaging	1.00
R3608:Ubr2	UTSW	17	47,255,449 (GRCm39)	missense	probably damaging	1.00
R4080:Ubr2	UTSW	17	47,299,648 (GRCm39)	missense	probably benign	0.05
R4330:Ubr2	UTSW	17	47,278,204 (GRCm39)	missense	probably null	1.00
R4383:Ubr2	UTSW	17	47,250,313 (GRCm39)	missense	probably benign	0.01
R4460:Ubr2	UTSW	17	47,255,971 (GRCm39)	critical splice donor site	probably null
R4794:Ubr2	UTSW	17	47,241,371 (GRCm39)	missense	probably damaging	1.00
R4902:Ubr2	UTSW	17	47,296,922 (GRCm39)	missense	possibly damaging	0.91
R4913:Ubr2	UTSW	17	47,270,385 (GRCm39)	splice site	probably null
R5092:Ubr2	UTSW	17	47,280,173 (GRCm39)	missense	probably damaging	1.00
R5209:Ubr2	UTSW	17	47,279,350 (GRCm39)	missense	probably damaging	1.00
R5226:Ubr2	UTSW	17	47,294,196 (GRCm39)	missense	probably benign	0.04
R5250:Ubr2	UTSW	17	47,241,368 (GRCm39)	missense	probably benign	0.01
R5437:Ubr2	UTSW	17	47,274,623 (GRCm39)	missense	probably benign	0.00
R5607:Ubr2	UTSW	17	47,245,126 (GRCm39)	nonsense	probably null
R5848:Ubr2	UTSW	17	47,267,581 (GRCm39)	missense	possibly damaging	0.84
R6089:Ubr2	UTSW	17	47,293,218 (GRCm39)	missense	possibly damaging	0.95
R6382:Ubr2	UTSW	17	47,268,241 (GRCm39)	missense	possibly damaging	0.56
R6552:Ubr2	UTSW	17	47,277,194 (GRCm39)	splice site	probably null
R6630:Ubr2	UTSW	17	47,262,910 (GRCm39)	missense	possibly damaging	0.51
R6892:Ubr2	UTSW	17	47,245,034 (GRCm39)	missense	probably damaging	0.99
R6936:Ubr2	UTSW	17	47,283,957 (GRCm39)	missense	possibly damaging	0.94
R7039:Ubr2	UTSW	17	47,321,139 (GRCm39)	missense	probably benign	0.01
R7050:Ubr2	UTSW	17	47,272,528 (GRCm39)	missense	probably benign	0.30
R7078:Ubr2	UTSW	17	47,266,779 (GRCm39)	missense	possibly damaging	0.59
R7126:Ubr2	UTSW	17	47,284,982 (GRCm39)	splice site	probably null
R7219:Ubr2	UTSW	17	47,246,360 (GRCm39)	nonsense	probably null
R7262:Ubr2	UTSW	17	47,311,665 (GRCm39)	missense	probably damaging	0.97
R7352:Ubr2	UTSW	17	47,241,352 (GRCm39)	missense	probably benign	0.19
R7366:Ubr2	UTSW	17	47,266,771 (GRCm39)	missense	probably damaging	0.99
R7449:Ubr2	UTSW	17	47,275,714 (GRCm39)	missense	probably damaging	1.00
R7496:Ubr2	UTSW	17	47,301,917 (GRCm39)	critical splice donor site	probably null
R7759:Ubr2	UTSW	17	47,296,974 (GRCm39)	missense	probably damaging	1.00
R7869:Ubr2	UTSW	17	47,301,934 (GRCm39)	missense	probably benign	0.00
R7916:Ubr2	UTSW	17	47,279,308 (GRCm39)	critical splice donor site	probably null
R8236:Ubr2	UTSW	17	47,262,835 (GRCm39)	missense	probably benign
R8376:Ubr2	UTSW	17	47,253,721 (GRCm39)	missense	probably benign	0.07
R9026:Ubr2	UTSW	17	47,245,041 (GRCm39)	missense	probably damaging	1.00
R9216:Ubr2	UTSW	17	47,292,285 (GRCm39)	missense	probably benign	0.36
R9339:Ubr2	UTSW	17	47,284,865 (GRCm39)	missense	probably benign	0.30
R9558:Ubr2	UTSW	17	47,262,843 (GRCm39)	missense	probably benign
R9606:Ubr2	UTSW	17	47,245,020 (GRCm39)	missense	probably damaging	1.00
R9644:Ubr2	UTSW	17	47,266,706 (GRCm39)	critical splice donor site	probably null
R9731:Ubr2	UTSW	17	47,274,071 (GRCm39)	critical splice donor site	probably null
X0027:Ubr2	UTSW	17	47,311,555 (GRCm39)	missense	probably damaging	0.99
X0061:Ubr2	UTSW	17	47,281,037 (GRCm39)	missense	possibly damaging	0.88
Z1177:Ubr2	UTSW	17	47,311,692 (GRCm39)	missense	possibly damaging	0.76
Z1177:Ubr2	UTSW	17	47,270,435 (GRCm39)	missense	probably benign
Z1177:Ubr2	UTSW	17	47,321,069 (GRCm39)	missense	probably benign	0.33

Posted On

2012-12-06