Mutagenetix > Incidental Mutation

Incidental Mutation 'R3979:Ubr1'

311171

Institutional Source

Beutler Lab

Gene Symbol

Ubr1

Ensembl Gene

ENSMUSG00000027272

Gene Name

ubiquitin protein ligase E3 component n-recognin 1

Synonyms

E3 alpha

MMRRC Submission

040942-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.797) question?

Stock #

R3979 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120860269-120970715 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120862687 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 1746 (N1746I)

Ref Sequence

ENSEMBL: ENSMUSP00000028728 (fasta)

Gene Model

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

AlphaFold

O70481

Predicted Effect

probably benign
Transcript: ENSMUST00000028728
AA Change: N1746I

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028728
Gene: ENSMUSG00000027272
AA Change: N1746I

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: ENSMUST00000124795

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171483

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,323,976 (GRCm38)	V82A	probably benign	Het
Adam28	A	G	14: 68,610,994 (GRCm38)	V671A	probably benign	Het
Ak3	T	A	19: 29,047,718 (GRCm38)	S38C	probably damaging	Het
Arfgef1	A	G	1: 10,209,634 (GRCm38)	V236A	probably benign	Het
Arhgap10	T	C	8: 77,420,725 (GRCm38)	N170S	probably benign	Het
B020004C17Rik	G	T	14: 57,017,188 (GRCm38)	M156I	possibly damaging	Het
Bicral	T	A	17: 46,830,991 (GRCm38)	M1L	unknown	Het
Bop1	A	G	15: 76,453,876 (GRCm38)	L598P	probably damaging	Het
Cachd1	A	T	4: 100,970,888 (GRCm38)	D611V	probably damaging	Het
Cfap70	T	A	14: 20,439,719 (GRCm38)	E246D	probably benign	Het
Chl1	T	A	6: 103,715,284 (GRCm38)	Y294*	probably null	Het
Chrna2	T	A	14: 66,148,953 (GRCm38)	Y183N	probably damaging	Het
Dab2	A	G	15: 6,435,163 (GRCm38)		probably null	Het
Dnajb6	T	C	5: 29,751,008 (GRCm38)	F46L	possibly damaging	Het
Exoc7	T	C	11: 116,296,762 (GRCm38)	E275G	probably benign	Het
Fam208a	T	C	14: 27,477,130 (GRCm38)	L1335S	possibly damaging	Het
Frem2	A	G	3: 53,652,070 (GRCm38)	I1672T	probably benign	Het
Gm12166	T	A	11: 46,052,026 (GRCm38)	K90M	probably damaging	Het
Gprc6a	C	A	10: 51,621,101 (GRCm38)	V449L	probably benign	Het
H2-M10.4	A	G	17: 36,461,985 (GRCm38)	V35A	probably benign	Het
Hr	A	G	14: 70,563,584 (GRCm38)	T699A	probably benign	Het
Iffo1	A	G	6: 125,160,589 (GRCm38)		probably benign	Het
Iqgap1	G	A	7: 80,759,934 (GRCm38)	H218Y	probably damaging	Het
Itpr3	A	G	17: 27,091,572 (GRCm38)	D443G	probably damaging	Het
Itpr3	A	C	17: 27,085,131 (GRCm38)	K109Q	probably benign	Het
Katna1	T	C	10: 7,752,754 (GRCm38)	M249T	probably damaging	Het
Klk1b4	G	A	7: 44,211,593 (GRCm38)	G220D	probably damaging	Het
Krt24	A	G	11: 99,282,770 (GRCm38)	C242R	probably benign	Het
Madd	G	A	2: 91,176,828 (GRCm38)	T313I	possibly damaging	Het
Man1c1	G	C	4: 134,703,438 (GRCm38)	P11R	probably damaging	Het
Micalcl	A	G	7: 112,407,678 (GRCm38)		probably null	Het
Neil3	T	C	8: 53,623,664 (GRCm38)	T79A	probably damaging	Het
Nras	A	G	3: 103,060,225 (GRCm38)	I46V	probably benign	Het
Olfr1196	T	C	2: 88,700,448 (GRCm38)	S294G	probably benign	Het
Olfr1369-ps1	T	A	13: 21,115,861 (GRCm38)	H56Q	probably benign	Het
Ppfia2	A	G	10: 106,830,629 (GRCm38)	T399A	possibly damaging	Het
Rarres1	A	G	3: 67,495,810 (GRCm38)	V86A	probably benign	Het
Rdh19	A	T	10: 127,850,075 (GRCm38)	R19W	possibly damaging	Het
Rock2	A	G	12: 16,972,736 (GRCm38)	K1059E	probably damaging	Het
Sparcl1	T	C	5: 104,092,781 (GRCm38)	H259R	probably benign	Het
Spata31d1c	A	G	13: 65,035,160 (GRCm38)	D172G	possibly damaging	Het
Stab2	T	C	10: 86,863,456 (GRCm38)	D515G	possibly damaging	Het
Sycp2l	A	G	13: 41,141,964 (GRCm38)	I334M	probably damaging	Het
Tas2r103	A	G	6: 133,036,317 (GRCm38)	L262P	probably benign	Het
Tcaf2	A	G	6: 42,642,547 (GRCm38)	V182A	probably damaging	Het
Tcof1	C	T	18: 60,831,533 (GRCm38)	E674K	possibly damaging	Het
Trp63	A	G	16: 25,820,740 (GRCm38)		probably benign	Het
Ttn	A	T	2: 76,745,394 (GRCm38)	W25052R	probably damaging	Het
Vax2	T	C	6: 83,737,547 (GRCm38)	V148A	probably damaging	Het
Vmn2r112	T	A	17: 22,603,115 (GRCm38)	V258E	probably damaging	Het
Vmn2r96	T	A	17: 18,597,679 (GRCm38)	I698N	probably damaging	Het
Wdr90	A	G	17: 25,859,278 (GRCm38)	V372A	probably benign	Het
Zfp335	C	T	2: 164,910,638 (GRCm38)	G62D	probably benign	Het
Zfp563	G	A	17: 33,105,727 (GRCm38)	R432H	probably benign	Het
Zhx1	T	C	15: 58,053,240 (GRCm38)	T537A	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
IGL01984:Ubr1	APN	2	120,921,386 (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
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

Predicted Primers

PCR Primer
(F):5'- GACCTCATTAACCAGGTGGG -3'
(R):5'- TCATAGCTGCAGGGATGTCTTG -3'

Sequencing Primer
(F):5'- TGGATGAACAAGCATTTCTTTAGTG -3'
(R):5'- GCATTTGGTCTGGCAACA -3'

Posted On

2015-04-29