Mutagenetix > Incidental Mutation

Incidental Mutation 'R2201:Ubr7'

238681

Institutional Source

Beutler Lab

Gene Symbol

Ubr7

Ensembl Gene

ENSMUSG00000041712

Gene Name

ubiquitin protein ligase E3 component n-recognin 7 (putative)

Synonyms

5730410I19Rik

MMRRC Submission

040203-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.398) question?

Stock #

R2201 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102724234-102743960 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 102727764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046404] [ENSMUST00000173969] [ENSMUST00000174651] [ENSMUST00000179263] [ENSMUST00000179306]

AlphaFold

Q8BU04

Predicted Effect

probably null
Transcript: ENSMUST00000046404

SMART Domains

Protein: ENSMUSP00000041247
Gene: ENSMUSG00000041712

Domain	Start	End	E-Value	Type
low complexity region	13	33	N/A	INTRINSIC
Pfam:zf-UBR	45	113	2.4e-15	PFAM
PHD	134	186	1.78e-1	SMART
low complexity region	261	267	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173969

SMART Domains

Protein: ENSMUSP00000136425
Gene: ENSMUSG00000091931

Domain	Start	End	E-Value	Type
Pfam:DUF4611	3	96	7.7e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174651

SMART Domains

Protein: ENSMUSP00000133604
Gene: ENSMUSG00000041716

Domain	Start	End	E-Value	Type
Pfam:DUF4611	3	73	8.6e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179263

SMART Domains

Protein: ENSMUSP00000137212
Gene: ENSMUSG00000091931

Domain	Start	End	E-Value	Type
Pfam:DUF4611	3	77	7.8e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179306

SMART Domains

Protein: ENSMUSP00000136193
Gene: ENSMUSG00000098530

Domain	Start	End	E-Value	Type
Pfam:DUF4611	3	77	1.5e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221771

Meta Mutation Damage Score

0.9497

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recognizes N-degrons, the destabilizing N-terminal residues of short-lived proteins, which results in ubiquitinylation, and proteolysis via the proteasome. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,524,268 (GRCm39)	N1121K	probably null	Het
Actr10	A	G	12: 71,006,795 (GRCm39)	N351D	probably damaging	Het
Adcy7	G	A	8: 89,044,606 (GRCm39)	A500T	probably damaging	Het
Ankrd35	T	C	3: 96,586,564 (GRCm39)	I80T	possibly damaging	Het
Arap2	G	A	5: 62,864,028 (GRCm39)	T532I	probably damaging	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,147,493 (GRCm39)		probably null	Het
Cc2d2a	T	C	5: 43,841,375 (GRCm39)		probably benign	Het
Cep85l	A	T	10: 53,224,827 (GRCm39)	M254K	probably benign	Het
Clic4	A	G	4: 134,950,850 (GRCm39)	S114P	probably damaging	Het
Ctsj	T	C	13: 61,150,363 (GRCm39)	Y213C	probably damaging	Het
Ddx28	A	G	8: 106,737,206 (GRCm39)	V284A	probably damaging	Het
Dnase2b	T	A	3: 146,290,443 (GRCm39)	D176V	probably damaging	Het
Dsg2	T	A	18: 20,729,111 (GRCm39)	N663K	probably damaging	Het
Dst	T	A	1: 34,235,002 (GRCm39)	S3694T	possibly damaging	Het
Emilin1	T	C	5: 31,073,036 (GRCm39)	S158P	probably benign	Het
Eng	T	C	2: 32,563,752 (GRCm39)		probably benign	Het
Entrep2	T	A	7: 64,409,141 (GRCm39)	M418L	probably benign	Het
Fdxr	C	A	11: 115,161,208 (GRCm39)	V223L	probably benign	Het
Fhip1b	T	C	7: 105,037,398 (GRCm39)	N395S	probably damaging	Het
Frem2	T	A	3: 53,423,994 (GRCm39)	M3148L	probably benign	Het
Hip1	A	T	5: 135,460,584 (GRCm39)	D114E	probably benign	Het
Itga9	T	C	9: 118,706,183 (GRCm39)		probably benign	Het
Kcnt2	T	A	1: 140,437,179 (GRCm39)	N487K	probably damaging	Het
Krt6a	A	G	15: 101,601,606 (GRCm39)	F172L	probably benign	Het
Megf8	C	T	7: 25,040,170 (GRCm39)	R1034W	probably damaging	Het
Muc6	C	T	7: 141,236,075 (GRCm39)	D451N	probably damaging	Het
Myo5a	A	G	9: 75,125,225 (GRCm39)	T1838A	possibly damaging	Het
N4bp2l2	A	T	5: 150,585,073 (GRCm39)	D302E	probably damaging	Het
Nbeal2	T	A	9: 110,459,318 (GRCm39)	I1930F	probably benign	Het
Nhsl3	A	G	4: 129,116,432 (GRCm39)	V732A	probably benign	Het
Npas4	A	T	19: 5,037,392 (GRCm39)	Y301N	probably benign	Het
Nt5m	A	G	11: 59,766,741 (GRCm39)	K211E	probably benign	Het
Pfn4	A	G	12: 4,824,382 (GRCm39)		probably null	Het
Pfpl	A	C	19: 12,407,843 (GRCm39)	D698A	probably benign	Het
Pias1	G	T	9: 62,859,137 (GRCm39)	H124N	possibly damaging	Het
Pja2	A	T	17: 64,618,162 (GRCm39)		probably benign	Het
Polr3e	T	C	7: 120,531,465 (GRCm39)	Y185H	probably benign	Het
Pomc	T	C	12: 4,010,275 (GRCm39)	L172S	probably benign	Het
Rapgef4	A	G	2: 71,875,533 (GRCm39)	T129A	probably damaging	Het
Reep1	T	C	6: 71,750,278 (GRCm39)	S97P	probably damaging	Het
Rttn	T	A	18: 89,029,067 (GRCm39)	I595N	possibly damaging	Het
Sap30	T	C	8: 57,938,506 (GRCm39)		probably null	Het
Slc1a7	T	C	4: 107,850,203 (GRCm39)	Y105H	probably damaging	Het
Slc5a5	C	T	8: 71,345,102 (GRCm39)	M68I	probably damaging	Het
Stab2	T	A	10: 86,776,503 (GRCm39)	Y791F	probably benign	Het
Tdrd1	C	A	19: 56,847,094 (GRCm39)	H912N	probably benign	Het
Tdrd1	C	A	19: 56,847,093 (GRCm39)	S911R	probably benign	Het
Tgm7	A	T	2: 120,929,062 (GRCm39)	F278Y	probably damaging	Het
Tln2	T	C	9: 67,283,039 (GRCm39)	T310A	probably damaging	Het
Tmem256	T	C	11: 69,730,271 (GRCm39)	I93T	probably benign	Het
Trpm2	G	A	10: 77,756,305 (GRCm39)	Q1172*	probably null	Het
Ttll8	A	G	15: 88,818,156 (GRCm39)	V173A	possibly damaging	Het
Ubr5	T	C	15: 38,002,543 (GRCm39)	S1497G	possibly damaging	Het
Vmn1r37	T	A	6: 66,708,878 (GRCm39)	M1K	probably null	Het
Vmn2r14	A	G	5: 109,366,698 (GRCm39)		probably null	Het
Vmn2r72	T	C	7: 85,387,444 (GRCm39)	I707V	probably benign	Het
Vps8	A	G	16: 21,395,507 (GRCm39)	R1266G	probably damaging	Het
Wdr87-ps	T	A	7: 29,235,950 (GRCm39)		noncoding transcript	Het
Zfhx4	A	G	3: 5,307,349 (GRCm39)	N192D	probably damaging	Het
Zfp638	G	C	6: 83,906,500 (GRCm39)	D222H	probably damaging	Het
Zscan29	A	C	2: 120,999,883 (GRCm39)	V106G	probably damaging	Het

Other mutations in Ubr7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02152:Ubr7	APN	12	102,734,535 (GRCm39)	nonsense	probably null
IGL02493:Ubr7	APN	12	102,734,479 (GRCm39)	missense	probably benign	0.00
IGL02750:Ubr7	APN	12	102,737,537 (GRCm39)	missense	possibly damaging	0.68
IGL03229:Ubr7	APN	12	102,735,414 (GRCm39)	missense	probably damaging	1.00
dwindled	UTSW	12	102,727,723 (GRCm39)	missense	probably damaging	1.00
Hair	UTSW	12	102,724,342 (GRCm39)	missense	probably damaging	0.98
Inch	UTSW	12	102,732,099 (GRCm39)	nonsense	probably null
R0519:Ubr7	UTSW	12	102,734,465 (GRCm39)	missense	probably benign	0.00
R0894:Ubr7	UTSW	12	102,735,450 (GRCm39)	missense	probably damaging	1.00
R1453:Ubr7	UTSW	12	102,735,437 (GRCm39)	missense	probably benign	0.00
R1598:Ubr7	UTSW	12	102,736,153 (GRCm39)	missense	probably damaging	1.00
R4731:Ubr7	UTSW	12	102,735,485 (GRCm39)	missense	probably benign	0.03
R4834:Ubr7	UTSW	12	102,727,761 (GRCm39)	missense	probably damaging	1.00
R5222:Ubr7	UTSW	12	102,741,964 (GRCm39)	missense	probably benign	0.09
R5662:Ubr7	UTSW	12	102,734,526 (GRCm39)	missense	probably benign	0.00
R5845:Ubr7	UTSW	12	102,732,571 (GRCm39)	missense	probably damaging	0.99
R5867:Ubr7	UTSW	12	102,727,753 (GRCm39)	missense	probably damaging	1.00
R6257:Ubr7	UTSW	12	102,732,099 (GRCm39)	nonsense	probably null
R6543:Ubr7	UTSW	12	102,734,494 (GRCm39)	missense	probably benign	0.01
R6601:Ubr7	UTSW	12	102,727,723 (GRCm39)	missense	probably damaging	1.00
R6849:Ubr7	UTSW	12	102,724,342 (GRCm39)	missense	probably damaging	0.98
R7330:Ubr7	UTSW	12	102,741,971 (GRCm39)	missense	probably damaging	0.99
R7576:Ubr7	UTSW	12	102,735,398 (GRCm39)	missense	probably damaging	1.00
R8256:Ubr7	UTSW	12	102,736,170 (GRCm39)	missense	probably damaging	1.00
R8334:Ubr7	UTSW	12	102,724,397 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGAATAGATCTGGGGCTTG -3'
(R):5'- TGAGAAGTTTGAGCCAGTCTCC -3'

Sequencing Primer
(F):5'- GCTTGAAATAGTGGTTTTGACCC -3'
(R):5'- TGAGCCAGTCTCCATAATTAAAAGGC -3'

Posted On

2014-10-02