Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02726:Ubr2'

305205

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: 0.872) question?

Stock #

IGL02726

Quality Score

Status

Chromosome

Chromosomal Location

47239221-47321482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 47283847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 601 (Y601D)

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: Y601D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108961
Gene: ENSMUSG00000023977
AA Change: Y601D

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: Y601D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108963
Gene: ENSMUSG00000023977
AA Change: Y601D

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc1	A	T	2: 128,501,705 (GRCm39)	M779K	probably benign	Het
Art1	G	A	7: 101,759,955 (GRCm39)	V85M	probably damaging	Het
Atad2b	G	T	12: 5,024,003 (GRCm39)	E43*	probably null	Het
Clec4a4	A	T	6: 122,967,338 (GRCm39)	I5F	probably damaging	Het
Cr1l	A	T	1: 194,812,188 (GRCm39)	I45N	probably damaging	Het
Dmbt1	T	A	7: 130,676,140 (GRCm39)		probably benign	Het
Dnajb3	A	T	1: 88,133,372 (GRCm39)	V10E	probably damaging	Het
Dnajc22	A	T	15: 98,998,881 (GRCm39)	H22L	probably damaging	Het
Dnal4	A	G	15: 79,647,745 (GRCm39)	V40A	probably damaging	Het
Dsg1b	G	A	18: 20,532,542 (GRCm39)	V529I	probably benign	Het
Elp1	T	A	4: 56,767,878 (GRCm39)		probably null	Het
Fam131c	T	A	4: 141,110,113 (GRCm39)	D170E	probably benign	Het
Got1	G	A	19: 43,488,851 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,349,270 (GRCm39)	V2043E	probably benign	Het
Hmcn1	A	T	1: 150,532,445 (GRCm39)	Y3147*	probably null	Het
Ifi44	T	C	3: 151,455,233 (GRCm39)		probably benign	Het
Il1b	A	T	2: 129,209,242 (GRCm39)	D129E	probably damaging	Het
Ino80	A	T	2: 119,272,964 (GRCm39)	I504N	probably damaging	Het
Itpr2	A	G	6: 146,277,419 (GRCm39)	I655T	probably benign	Het
Kcnk4	A	G	19: 6,904,457 (GRCm39)		probably null	Het
Mrgprb2	T	A	7: 48,202,618 (GRCm39)	R36W	probably damaging	Het
Mslnl	T	C	17: 25,963,077 (GRCm39)		probably null	Het
Or10ak14	T	A	4: 118,610,961 (GRCm39)	Y260F	probably benign	Het
Or1e33	T	C	11: 73,738,691 (GRCm39)	S87G	probably benign	Het
Or2ag1b	A	C	7: 106,288,577 (GRCm39)	Y120*	probably null	Het
Or8k16	G	T	2: 85,520,554 (GRCm39)	L260F	possibly damaging	Het
Pcnx4	G	T	12: 72,620,986 (GRCm39)	M935I	probably benign	Het
Pdgfra	C	T	5: 75,355,618 (GRCm39)	Q1043*	probably null	Het
Pf4	T	C	5: 90,920,523 (GRCm39)	V28A	probably benign	Het
Piezo1	A	G	8: 123,213,894 (GRCm39)	L1689P	probably damaging	Het
Ppa2	A	G	3: 133,076,222 (GRCm39)	S284G	possibly damaging	Het
Pramel22	G	T	4: 143,381,955 (GRCm39)	P247H	probably damaging	Het
Psd2	T	C	18: 36,120,355 (GRCm39)		probably null	Het
Rbm25	G	T	12: 83,719,626 (GRCm39)	G549W	probably damaging	Het
Ryr2	T	C	13: 11,753,206 (GRCm39)	D1705G	probably damaging	Het
Shf	A	T	2: 122,189,969 (GRCm39)	D96E	probably damaging	Het
Slc1a1	G	A	19: 28,889,169 (GRCm39)	V481M	probably benign	Het
Slc4a9	T	C	18: 36,672,670 (GRCm39)	V807A	probably benign	Het
Syne2	T	A	12: 76,062,356 (GRCm39)	I4226N	probably damaging	Het
Tex56	A	G	13: 35,136,943 (GRCm39)		probably benign	Het
Tkfc	A	T	19: 10,573,576 (GRCm39)	V254E	possibly damaging	Het
Ubr5	A	C	15: 38,000,806 (GRCm39)		probably benign	Het
Vmn1r27	A	T	6: 58,192,854 (GRCm39)	I50K	possibly damaging	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	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
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
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

2015-04-16