Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02493:Ubr7'

295749

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubr7

Ensembl Gene

ENSMUSG00000041712

Gene Name

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

Synonyms

5730410I19Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02493

Quality Score

Status

Chromosome

Chromosomal Location

102724234-102743960 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102734479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 251 (V251A)

Ref Sequence

ENSEMBL: ENSMUSP00000041247 (fasta)

Gene Model

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

AlphaFold

Q8BU04

Predicted Effect

probably benign
Transcript: ENSMUST00000046404
AA Change: V251A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000041247
Gene: ENSMUSG00000041712
AA Change: V251A

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

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	G	15: 59,888,312 (GRCm39)	S43R	probably benign	Het
Afap1l1	G	T	18: 61,870,594 (GRCm39)	Q595K	possibly damaging	Het
Alpk2	T	C	18: 65,483,402 (GRCm39)	E202G	probably benign	Het
Ap3b1	T	C	13: 94,540,528 (GRCm39)	V150A	probably damaging	Het
Bcas3	T	C	11: 85,386,708 (GRCm39)	I381T	probably damaging	Het
Best3	A	T	10: 116,860,506 (GRCm39)	R589W	possibly damaging	Het
Birc6	A	G	17: 74,959,054 (GRCm39)		probably benign	Het
Clcn4	A	C	7: 7,287,243 (GRCm39)	D728E	probably damaging	Het
Commd2	C	A	3: 57,559,080 (GRCm39)		probably benign	Het
Csrp1	T	A	1: 135,678,801 (GRCm39)	F175L	probably damaging	Het
Eif3c	A	T	7: 126,158,073 (GRCm39)	N294K	probably damaging	Het
Fam184a	A	G	10: 53,570,789 (GRCm39)		probably null	Het
Fndc1	G	T	17: 7,994,377 (GRCm39)	P297Q	unknown	Het
Galnt13	A	G	2: 54,770,149 (GRCm39)	I314V	probably benign	Het
Gimap6	T	A	6: 48,679,603 (GRCm39)	K144N	probably damaging	Het
Gm10188	A	T	1: 132,157,143 (GRCm39)	C74*	probably null	Het
Gpatch2	C	T	1: 186,965,325 (GRCm39)		probably benign	Het
Hace1	T	A	10: 45,464,515 (GRCm39)	M39K	probably damaging	Het
Has2	G	T	15: 56,531,320 (GRCm39)	T465K	probably damaging	Het
Homer3	T	A	8: 70,742,721 (GRCm39)	V144D	probably benign	Het
Ift140	A	T	17: 25,306,898 (GRCm39)	K878*	probably null	Het
Ikbip	A	G	10: 90,932,456 (GRCm39)	N367D	probably damaging	Het
Immt	T	C	6: 71,821,700 (GRCm39)		probably benign	Het
Isca1	A	G	13: 59,910,596 (GRCm39)	V32A	possibly damaging	Het
Kcnu1	T	A	8: 26,427,548 (GRCm39)	N288K	possibly damaging	Het
Kmt2b	C	T	7: 30,268,936 (GRCm39)		probably benign	Het
Lrguk	T	A	6: 34,106,127 (GRCm39)	D717E	probably benign	Het
Lrp1	C	T	10: 127,417,647 (GRCm39)	G1037E	probably damaging	Het
Man2a2	T	A	7: 80,019,363 (GRCm39)	Q37L	possibly damaging	Het
Msh4	C	T	3: 153,583,545 (GRCm39)		probably null	Het
Mtf1	C	T	4: 124,715,112 (GRCm39)	R246W	probably damaging	Het
Mvb12b	A	G	2: 33,730,221 (GRCm39)	S57P	probably benign	Het
Nat8f5	A	G	6: 85,794,544 (GRCm39)	F139L	probably benign	Het
Npepps	A	G	11: 97,128,985 (GRCm39)	F400L	probably damaging	Het
Ntsr2	T	A	12: 16,708,390 (GRCm39)	S248T	possibly damaging	Het
Oplah	G	A	15: 76,185,155 (GRCm39)	R853*	probably null	Het
Or5b98	T	C	19: 12,931,138 (GRCm39)	F62L	probably benign	Het
Or5p57	A	T	7: 107,665,012 (GRCm39)	M331K	possibly damaging	Het
Plekhh2	G	A	17: 84,914,391 (GRCm39)		probably null	Het
Pskh1	G	A	8: 106,656,388 (GRCm39)	V355I	probably benign	Het
Rab31	A	T	17: 66,024,547 (GRCm39)	M44K	possibly damaging	Het
Slc5a4b	A	G	10: 75,910,849 (GRCm39)	V329A	probably damaging	Het
Slc5a7	A	G	17: 54,600,908 (GRCm39)	Y76H	probably damaging	Het
Trappc14	T	C	5: 138,261,432 (GRCm39)		probably null	Het
Treh	A	T	9: 44,594,246 (GRCm39)	D164V	possibly damaging	Het
Trim6	A	G	7: 103,881,847 (GRCm39)	Y366C	probably benign	Het
Vmn1r35	T	A	6: 66,656,463 (GRCm39)	N69I	possibly damaging	Het
Zan	A	G	5: 137,433,968 (GRCm39)	L2255P	unknown	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
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
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

Posted On

2015-04-16