Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01144:Ubr2'

53125

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 #

IGL01144

Quality Score

Status

Chromosome

Chromosomal Location

47239221-47321482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47268247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 989 (I989T)

Ref Sequence

ENSEMBL: ENSMUSP00000108963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113335] [ENSMUST00000113337] [ENSMUST00000225599]

AlphaFold

Q6WKZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000113335
AA Change: I989T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108961
Gene: ENSMUSG00000023977
AA Change: I989T

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

probably damaging
Transcript: ENSMUST00000113337
AA Change: I989T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108963
Gene: ENSMUSG00000023977
AA Change: I989T

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: ENSMUST00000224759

Predicted Effect

probably benign
Transcript: ENSMUST00000225599

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cox19	T	C	5: 139,330,881 (GRCm39)	K10E	probably damaging	Het
Ddx21	T	A	10: 62,434,329 (GRCm39)	K143N	unknown	Het
Dnajb13	T	C	7: 100,152,431 (GRCm39)	D295G	possibly damaging	Het
Gm14496	A	G	2: 181,636,814 (GRCm39)	N91D	probably damaging	Het
Kidins220	T	C	12: 25,060,925 (GRCm39)	I801T	probably damaging	Het
Nexmif	A	G	X: 103,127,559 (GRCm39)	S1453P	possibly damaging	Het
Nobox	A	G	6: 43,280,935 (GRCm39)	V513A	possibly damaging	Het
Phactr1	G	A	13: 43,191,000 (GRCm39)	D157N	possibly damaging	Het
Plod1	G	T	4: 148,017,211 (GRCm39)	Q49K	probably benign	Het
Ppp1r10	C	T	17: 36,237,456 (GRCm39)	R209C	probably benign	Het
Prr12	T	C	7: 44,696,882 (GRCm39)	E1011G	unknown	Het
Rab27a	G	A	9: 72,982,850 (GRCm39)		probably null	Het
Rbbp6	T	A	7: 122,575,169 (GRCm39)	D59E	possibly damaging	Het
Sbf2	G	T	7: 109,929,110 (GRCm39)	T1432K	probably damaging	Het
Sorbs3	A	C	14: 70,429,017 (GRCm39)	S383A	probably benign	Het
Spta1	T	A	1: 174,014,829 (GRCm39)	D436E	probably benign	Het
Tbc1d4	A	T	14: 101,682,099 (GRCm39)	Y1266N	probably damaging	Het
Ttn	A	T	2: 76,551,173 (GRCm39)	Y29660*	probably null	Het
Zkscan14	G	T	5: 145,132,806 (GRCm39)	R242S	probably benign	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
IGL00785:Ubr2	APN	17	47,255,791 (GRCm39)	missense	possibly damaging	0.69
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

2013-06-21