Mutagenetix > Incidental Mutation

Incidental Mutation 'R1453:Ubr7'

161621

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

039508-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

R1453 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102724234-102743960 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102735437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 299 (K299E)

Ref Sequence

ENSEMBL: ENSMUSP00000041247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046404]

AlphaFold

Q8BU04

Predicted Effect

probably benign
Transcript: ENSMUST00000046404
AA Change: K299E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000041247
Gene: ENSMUSG00000041712
AA Change: K299E

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

noncoding transcript
Transcript: ENSMUST00000221771

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.3%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,862,763 (GRCm39)	I240M	probably benign	Het
Abcd3	A	T	3: 121,558,710 (GRCm39)	D595E	probably damaging	Het
Akap9	A	G	5: 4,025,614 (GRCm39)		probably null	Het
Arpc1b	A	G	5: 145,062,555 (GRCm39)	D223G	probably damaging	Het
Atp6ap1l	T	A	13: 91,046,866 (GRCm39)	T104S	probably benign	Het
BC005537	T	C	13: 24,989,969 (GRCm39)		probably null	Het
Ccdc9b	T	C	2: 118,587,903 (GRCm39)	D477G	possibly damaging	Het
Chrdl2	T	C	7: 99,666,197 (GRCm39)	V39A	possibly damaging	Het
Clmp	C	G	9: 40,693,737 (GRCm39)	S318W	probably damaging	Het
Cmas	T	C	6: 142,717,853 (GRCm39)	S323P	probably damaging	Het
Cnksr3	T	C	10: 7,079,132 (GRCm39)	T80A	probably benign	Het
Ddx25	T	C	9: 35,453,298 (GRCm39)	Y484C	probably damaging	Het
Dennd6b	A	G	15: 89,073,075 (GRCm39)	V154A	probably damaging	Het
Dmxl1	G	A	18: 49,990,316 (GRCm39)	V252I	probably benign	Het
Dnah2	T	C	11: 69,341,876 (GRCm39)	Y3003C	probably damaging	Het
Dnhd1	T	C	7: 105,370,480 (GRCm39)		probably null	Het
Dppa4	G	A	16: 48,111,596 (GRCm39)	A194T	probably damaging	Het
Dst	T	C	1: 34,228,527 (GRCm39)	V2218A	possibly damaging	Het
Dytn	G	C	1: 63,673,032 (GRCm39)	S457C	probably damaging	Het
Fndc3a	G	A	14: 72,777,768 (GRCm39)	Q1101*	probably null	Het
Focad	A	T	4: 88,275,679 (GRCm39)		probably null	Het
Gas2l2	T	A	11: 83,312,907 (GRCm39)	T802S	probably benign	Het
Gm5093	A	G	17: 46,750,622 (GRCm39)	F135S	probably benign	Het
Gmeb1	A	T	4: 131,969,759 (GRCm39)	D71E	possibly damaging	Het
Heatr5b	G	A	17: 79,124,992 (GRCm39)	R587C	probably damaging	Het
Jakmip2	T	C	18: 43,692,279 (GRCm39)		probably null	Het
Mier3	T	A	13: 111,841,778 (GRCm39)	L111Q	probably damaging	Het
Mrgprg	G	A	7: 143,318,779 (GRCm39)	S111F	possibly damaging	Het
Mybl1	T	C	1: 9,741,901 (GRCm39)	K677R	probably benign	Het
Nhsl1	T	C	10: 18,407,323 (GRCm39)	S1486P	probably damaging	Het
Nup133	A	G	8: 124,642,114 (GRCm39)	I783T	probably benign	Het
Or10d4c	A	T	9: 39,558,459 (GRCm39)	T146S	probably benign	Het
Or5an1c	A	T	19: 12,218,956 (GRCm39)	I23K	probably benign	Het
Pigr	A	T	1: 130,769,281 (GRCm39)	I31L	probably benign	Het
Plaat5	A	G	19: 7,616,999 (GRCm39)		probably benign	Het
Pole2	G	A	12: 69,254,703 (GRCm39)	L381F	probably benign	Het
Pramel6	T	A	2: 87,338,917 (GRCm39)	M39K	possibly damaging	Het
Rapgef6	T	A	11: 54,530,553 (GRCm39)		probably null	Het
Rinl	T	C	7: 28,496,329 (GRCm39)	C437R	probably damaging	Het
Shank1	T	C	7: 43,965,499 (GRCm39)	S192P	unknown	Het
Slc2a10	A	T	2: 165,359,570 (GRCm39)	Y478F	probably damaging	Het
Slc37a3	A	T	6: 39,343,877 (GRCm39)	L12H	probably damaging	Het
Slit2	T	A	5: 48,414,393 (GRCm39)	C970S	possibly damaging	Het
Stard9	T	C	2: 120,496,857 (GRCm39)	S119P	probably damaging	Het
Stim2	C	A	5: 54,273,451 (GRCm39)	D568E	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Traf3	A	G	12: 111,221,757 (GRCm39)	E306G	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Ttll6	T	C	11: 96,049,714 (GRCm39)	S811P	possibly damaging	Het
Urb1	C	A	16: 90,593,380 (GRCm39)	V251L	probably damaging	Het
Vps13b	G	T	15: 35,422,590 (GRCm39)	E183D	probably damaging	Het
Zfp35	T	G	18: 24,136,557 (GRCm39)	Y300*	probably null	Het
Zfp414	C	T	17: 33,849,012 (GRCm39)	T33I	probably damaging	Het
Zfp938	C	T	10: 82,063,632 (GRCm39)		probably null	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
R1598:Ubr7	UTSW	12	102,736,153 (GRCm39)	missense	probably damaging	1.00
R2201:Ubr7	UTSW	12	102,727,764 (GRCm39)	critical splice donor site	probably null
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'- CCCCAGACCCATGAGAAGTTGC -3'
(R):5'- AGTGTCCCCTGAACTCAGATATCGATCC -3'

Sequencing Primer
(F):5'- gagagagagagagagagagagag -3'
(R):5'- CGATCCTTGAATAAGTCTCGCAG -3'

Posted On

2014-03-14