Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01984:Ubr1'

181826

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubr1

Ensembl Gene

ENSMUSG00000027272

Gene Name

ubiquitin protein ligase E3 component n-recognin 1

Synonyms

E3 alpha

Accession Numbers

Essential gene?

Probably essential (E-score: 0.797) question?

Stock #

IGL01984

Quality Score

Status

Chromosome

Chromosomal Location

120860269-120970715 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120921386 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 791 (P791T)

Ref Sequence

ENSEMBL: ENSMUSP00000028728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028728]

AlphaFold

O70481

Predicted Effect

probably damaging
Transcript: ENSMUST00000028728
AA Change: P791T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028728
Gene: ENSMUSG00000027272
AA Change: P791T

Domain	Start	End	E-Value	Type
ZnF_UBR1	97	167	1.24e-35	SMART
Pfam:ClpS	221	301	8e-24	PFAM
low complexity region	918	936	N/A	INTRINSIC
low complexity region	1017	1030	N/A	INTRINSIC
low complexity region	1070	1081	N/A	INTRINSIC
Blast:RING	1101	1203	4e-34	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154023

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants have 20% lower body weight and reduced muscle and adipose tissue. Skeletal muscle lacks a mechanism for targeting proteins for rapid catabolism. Aberrant regulation of fatty acid synthase upon starvation is also observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	C	T	3: 90,063,230 (GRCm38)	L24F	probably benign	Het
Adamts16	T	C	13: 70,787,147 (GRCm38)	D442G	probably damaging	Het
Ankmy1	T	C	1: 92,883,765 (GRCm38)	T634A	probably damaging	Het
Anxa3	A	T	5: 96,834,771 (GRCm38)		probably benign	Het
Ccnh	T	C	13: 85,206,151 (GRCm38)	L202P	probably damaging	Het
Clcn3	A	T	8: 60,929,580 (GRCm38)	S325T	probably damaging	Het
Clec2d	A	T	6: 129,184,229 (GRCm38)	E96D	possibly damaging	Het
Csn1s1	A	T	5: 87,676,510 (GRCm38)		probably benign	Het
Dcun1d5	T	A	9: 7,205,307 (GRCm38)	Y189N	possibly damaging	Het
Dnah7a	T	C	1: 53,702,015 (GRCm38)		probably null	Het
Erg	T	G	16: 95,409,927 (GRCm38)	D15A	probably damaging	Het
Gm11639	T	A	11: 104,738,308 (GRCm38)	D937E	probably benign	Het
Gm17018	C	T	19: 45,577,030 (GRCm38)	H148Y	probably benign	Het
Gm21759	T	A	5: 8,180,547 (GRCm38)		probably benign	Het
Heatr5b	C	T	17: 78,796,497 (GRCm38)	R1083Q	possibly damaging	Het
Ints3	A	G	3: 90,392,226 (GRCm38)	S1012P	possibly damaging	Het
Klhl3	C	T	13: 58,011,243 (GRCm38)		probably benign	Het
Lama4	T	A	10: 39,075,529 (GRCm38)		probably null	Het
Magi1	A	T	6: 93,708,174 (GRCm38)	V740D	probably damaging	Het
Nme8	C	A	13: 19,688,980 (GRCm38)	V165L	probably damaging	Het
Odf2l	G	T	3: 145,139,829 (GRCm38)	E5*	probably null	Het
Olfr115	T	C	17: 37,623,661 (GRCm38)		probably benign	Het
Olfr1297	A	G	2: 111,621,582 (GRCm38)	L164S	probably benign	Het
Olfr683	A	T	7: 105,143,716 (GRCm38)	D192E	probably benign	Het
Pcnx4	T	C	12: 72,574,409 (GRCm38)	V1001A	probably benign	Het
Plaa	A	G	4: 94,571,685 (GRCm38)		probably null	Het
Prkdc	G	A	16: 15,708,779 (GRCm38)	A1305T	probably benign	Het
Rnps1	T	C	17: 24,424,397 (GRCm38)		probably benign	Het
St8sia5	T	C	18: 77,248,461 (GRCm38)	F197L	probably benign	Het
Sult3a1	G	T	10: 33,879,209 (GRCm38)	G257*	probably null	Het
Svep1	A	C	4: 58,068,877 (GRCm38)	Y2970D	possibly damaging	Het
Tns3	G	T	11: 8,548,992 (GRCm38)	Y30*	probably null	Het
Zfp592	T	C	7: 81,038,644 (GRCm38)	V1039A	probably benign	Het

Other mutations in Ubr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00552:Ubr1	APN	2	120,875,407 (GRCm38)	missense	possibly damaging	0.65
IGL00570:Ubr1	APN	2	120,941,093 (GRCm38)	missense	possibly damaging	0.93
IGL00990:Ubr1	APN	2	120,930,872 (GRCm38)	missense	probably damaging	1.00
IGL01124:Ubr1	APN	2	120,914,905 (GRCm38)	missense	probably benign
IGL01346:Ubr1	APN	2	120,873,122 (GRCm38)	critical splice donor site	probably null
IGL01368:Ubr1	APN	2	120,941,131 (GRCm38)	splice site	probably benign
IGL01539:Ubr1	APN	2	120,926,013 (GRCm38)	missense	possibly damaging	0.79
IGL01862:Ubr1	APN	2	120,934,342 (GRCm38)	missense	possibly damaging	0.81
IGL01965:Ubr1	APN	2	120,875,398 (GRCm38)	missense	probably damaging	0.99
IGL02184:Ubr1	APN	2	120,900,508 (GRCm38)	missense	probably benign	0.00
IGL02208:Ubr1	APN	2	120,946,349 (GRCm38)	missense	probably benign	0.00
IGL02415:Ubr1	APN	2	120,970,603 (GRCm38)	utr 5 prime	probably benign
IGL02517:Ubr1	APN	2	120,864,373 (GRCm38)	missense	possibly damaging	0.69
IGL02614:Ubr1	APN	2	120,870,979 (GRCm38)	splice site	probably benign
IGL02627:Ubr1	APN	2	120,940,991 (GRCm38)	missense	probably damaging	1.00
IGL02718:Ubr1	APN	2	120,914,883 (GRCm38)	missense	probably damaging	1.00
IGL02741:Ubr1	APN	2	120,941,091 (GRCm38)	missense	probably benign	0.01
IGL02939:Ubr1	APN	2	120,881,183 (GRCm38)	critical splice acceptor site	probably null
IGL03081:Ubr1	APN	2	120,961,156 (GRCm38)	missense	possibly damaging	0.83
IGL03310:Ubr1	APN	2	120,864,417 (GRCm38)	missense	probably damaging	1.00
IGL03370:Ubr1	APN	2	120,895,160 (GRCm38)	missense	probably benign
I1329:Ubr1	UTSW	2	120,934,294 (GRCm38)	splice site	probably benign
R0022:Ubr1	UTSW	2	120,961,173 (GRCm38)	splice site	probably benign
R0345:Ubr1	UTSW	2	120,904,103 (GRCm38)	splice site	probably null
R0373:Ubr1	UTSW	2	120,946,657 (GRCm38)	missense	probably benign	0.01
R0393:Ubr1	UTSW	2	120,906,946 (GRCm38)	missense	probably damaging	1.00
R0543:Ubr1	UTSW	2	120,881,093 (GRCm38)	missense	probably damaging	1.00
R0559:Ubr1	UTSW	2	120,947,883 (GRCm38)	nonsense	probably null
R0723:Ubr1	UTSW	2	120,881,101 (GRCm38)	nonsense	probably null
R1178:Ubr1	UTSW	2	120,926,029 (GRCm38)	nonsense	probably null
R1401:Ubr1	UTSW	2	120,955,644 (GRCm38)	missense	probably benign	0.01
R1485:Ubr1	UTSW	2	120,961,098 (GRCm38)	missense	probably benign	0.03
R1572:Ubr1	UTSW	2	120,935,319 (GRCm38)	splice site	probably benign
R1920:Ubr1	UTSW	2	120,930,968 (GRCm38)	missense	probably benign	0.11
R1921:Ubr1	UTSW	2	120,930,968 (GRCm38)	missense	probably benign	0.11
R1997:Ubr1	UTSW	2	120,946,273 (GRCm38)	critical splice donor site	probably null
R2129:Ubr1	UTSW	2	120,942,553 (GRCm38)	missense	probably benign	0.35
R2147:Ubr1	UTSW	2	120,864,330 (GRCm38)	missense	probably damaging	1.00
R2191:Ubr1	UTSW	2	120,926,047 (GRCm38)	missense	probably damaging	0.96
R2288:Ubr1	UTSW	2	120,909,482 (GRCm38)	missense	probably damaging	1.00
R3409:Ubr1	UTSW	2	120,963,448 (GRCm38)	missense	probably benign	0.02
R3930:Ubr1	UTSW	2	120,916,470 (GRCm38)	missense	probably benign	0.20
R3979:Ubr1	UTSW	2	120,862,687 (GRCm38)	missense	probably benign	0.11
R4172:Ubr1	UTSW	2	120,946,622 (GRCm38)	splice site	probably null
R4173:Ubr1	UTSW	2	120,946,622 (GRCm38)	splice site	probably null
R4174:Ubr1	UTSW	2	120,946,622 (GRCm38)	splice site	probably null
R4241:Ubr1	UTSW	2	120,934,386 (GRCm38)	missense	possibly damaging	0.69
R4366:Ubr1	UTSW	2	120,970,603 (GRCm38)	utr 5 prime	probably benign
R4371:Ubr1	UTSW	2	120,895,066 (GRCm38)	splice site	probably null
R4449:Ubr1	UTSW	2	120,946,381 (GRCm38)	missense	possibly damaging	0.84
R4533:Ubr1	UTSW	2	120,942,482 (GRCm38)	missense	possibly damaging	0.86
R4656:Ubr1	UTSW	2	120,926,013 (GRCm38)	missense	probably benign	0.35
R4765:Ubr1	UTSW	2	120,963,442 (GRCm38)	nonsense	probably null
R4928:Ubr1	UTSW	2	120,914,938 (GRCm38)	missense	probably damaging	1.00
R4987:Ubr1	UTSW	2	120,963,566 (GRCm38)	missense	probably benign	0.00
R5033:Ubr1	UTSW	2	120,911,997 (GRCm38)	critical splice donor site	probably null
R5108:Ubr1	UTSW	2	120,963,422 (GRCm38)	missense	probably benign	0.20
R5118:Ubr1	UTSW	2	120,882,264 (GRCm38)	missense	probably benign	0.20
R5211:Ubr1	UTSW	2	120,893,170 (GRCm38)	missense	possibly damaging	0.92
R5215:Ubr1	UTSW	2	120,904,044 (GRCm38)	missense	probably benign	0.00
R5449:Ubr1	UTSW	2	120,963,500 (GRCm38)	missense	probably benign
R5452:Ubr1	UTSW	2	120,868,302 (GRCm38)	missense	possibly damaging	0.95
R5582:Ubr1	UTSW	2	120,915,407 (GRCm38)	missense	probably benign
R5610:Ubr1	UTSW	2	120,892,112 (GRCm38)	missense	probably benign	0.04
R5637:Ubr1	UTSW	2	120,963,517 (GRCm38)	missense	possibly damaging	0.68
R5808:Ubr1	UTSW	2	120,961,092 (GRCm38)	missense	possibly damaging	0.63
R5845:Ubr1	UTSW	2	120,904,005 (GRCm38)	missense	probably benign
R5979:Ubr1	UTSW	2	120,946,382 (GRCm38)	missense	probably benign	0.07
R6044:Ubr1	UTSW	2	120,862,721 (GRCm38)	missense	probably benign	0.38
R6146:Ubr1	UTSW	2	120,893,209 (GRCm38)	missense	probably damaging	0.98
R6252:Ubr1	UTSW	2	120,906,895 (GRCm38)	missense	probably benign	0.21
R6389:Ubr1	UTSW	2	120,881,039 (GRCm38)	missense	probably benign	0.03
R6600:Ubr1	UTSW	2	120,915,399 (GRCm38)	missense	probably benign	0.00
R6670:Ubr1	UTSW	2	120,924,130 (GRCm38)	critical splice donor site	probably null
R6731:Ubr1	UTSW	2	120,955,640 (GRCm38)	missense	probably null	0.99
R6836:Ubr1	UTSW	2	120,896,675 (GRCm38)	splice site	probably null
R6994:Ubr1	UTSW	2	120,963,593 (GRCm38)	missense	probably benign
R7121:Ubr1	UTSW	2	120,875,498 (GRCm38)	missense	probably benign	0.00
R7204:Ubr1	UTSW	2	120,904,077 (GRCm38)	missense	possibly damaging	0.49
R7209:Ubr1	UTSW	2	120,862,765 (GRCm38)	missense	probably benign	0.04
R7434:Ubr1	UTSW	2	120,862,680 (GRCm38)	missense	probably benign
R7457:Ubr1	UTSW	2	120,917,828 (GRCm38)	missense	probably benign	0.35
R7464:Ubr1	UTSW	2	120,889,774 (GRCm38)	critical splice donor site	probably null
R7519:Ubr1	UTSW	2	120,875,444 (GRCm38)	missense	possibly damaging	0.63
R7574:Ubr1	UTSW	2	120,873,191 (GRCm38)	missense	possibly damaging	0.93
R8030:Ubr1	UTSW	2	120,934,374 (GRCm38)	missense	probably damaging	0.99
R8085:Ubr1	UTSW	2	120,934,417 (GRCm38)	nonsense	probably null
R8221:Ubr1	UTSW	2	120,961,104 (GRCm38)	missense	probably damaging	0.97
R8241:Ubr1	UTSW	2	120,963,456 (GRCm38)	missense	possibly damaging	0.80
R8291:Ubr1	UTSW	2	120,911,115 (GRCm38)	missense	probably benign
R8293:Ubr1	UTSW	2	120,862,721 (GRCm38)	missense	probably benign	0.38
R8420:Ubr1	UTSW	2	120,870,995 (GRCm38)	missense	probably benign
R8489:Ubr1	UTSW	2	120,881,067 (GRCm38)	missense	probably benign	0.42
R8708:Ubr1	UTSW	2	120,866,483 (GRCm38)	missense	probably benign	0.27
R8856:Ubr1	UTSW	2	120,904,042 (GRCm38)	missense	probably damaging	1.00
R8995:Ubr1	UTSW	2	120,866,553 (GRCm38)	missense	probably damaging	1.00
R9153:Ubr1	UTSW	2	120,925,988 (GRCm38)	missense	probably benign	0.00
R9155:Ubr1	UTSW	2	120,924,134 (GRCm38)	missense	possibly damaging	0.84
R9156:Ubr1	UTSW	2	120,873,122 (GRCm38)	critical splice donor site	probably null
R9194:Ubr1	UTSW	2	120,947,844 (GRCm38)	missense	probably damaging	1.00
R9320:Ubr1	UTSW	2	120,896,519 (GRCm38)	missense	probably benign	0.04
R9401:Ubr1	UTSW	2	120,935,284 (GRCm38)	missense	probably benign	0.06
R9430:Ubr1	UTSW	2	120,904,025 (GRCm38)	missense	possibly damaging	0.59
R9515:Ubr1	UTSW	2	120,873,146 (GRCm38)	missense	probably damaging	1.00
R9623:Ubr1	UTSW	2	120,934,339 (GRCm38)	missense	probably benign	0.06
R9703:Ubr1	UTSW	2	120,901,611 (GRCm38)	missense	probably damaging	1.00

Posted On

2014-05-07