Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01978:Ubox5'

181787

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubox5

Ensembl Gene

ENSMUSG00000027300

Gene Name

U box domain containing 5

Synonyms

1500010O06Rik, UIP5, C330018L13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01978

Quality Score

Status

Chromosome

Chromosomal Location

130431922-130471958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130442372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 105 (V105E)

Ref Sequence

ENSEMBL: ENSMUSP00000028761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028761] [ENSMUST00000140581]

AlphaFold

Q925F4

Predicted Effect

probably benign
Transcript: ENSMUST00000028761
AA Change: V105E

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

SMART Domains

Protein: ENSMUSP00000028761
Gene: ENSMUSG00000027300
AA Change: V105E

Domain	Start	End	E-Value	Type
Ubox	262	331	4.47e-15	SMART
low complexity region	371	395	N/A	INTRINSIC
RING	481	525	3.14e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140581

SMART Domains

Protein: ENSMUSP00000114878
Gene: ENSMUSG00000027300

Domain	Start	End	E-Value	Type
Pfam:FAST_1	474	546	2.6e-27	PFAM
Pfam:FAST_2	553	598	2.1e-10	PFAM

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 U-box domain containing protein. The encoded protein interacts with E2 enzymes and may play a role in the ubiquitination pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	A	17: 48,453,164 (GRCm39)	T6S	probably damaging	Het
Acot5	T	C	12: 84,122,172 (GRCm39)	V252A	possibly damaging	Het
Bmper	A	T	9: 23,292,737 (GRCm39)	N349Y	probably damaging	Het
Brap	A	G	5: 121,816,910 (GRCm39)		probably benign	Het
Col9a2	G	A	4: 120,901,863 (GRCm39)	G139E	unknown	Het
Cplane1	A	T	15: 8,248,866 (GRCm39)	N1805I	probably damaging	Het
Cyp2j8	A	C	4: 96,392,246 (GRCm39)		probably null	Het
Dcbld2	A	G	16: 58,284,682 (GRCm39)	D612G	probably benign	Het
Dsc3	C	T	18: 20,107,253 (GRCm39)	R456Q	possibly damaging	Het
Fat2	T	C	11: 55,160,972 (GRCm39)	T3253A	probably benign	Het
Hoxc12	T	A	15: 102,845,299 (GRCm39)	H4Q	probably damaging	Het
Il6st	A	G	13: 112,633,891 (GRCm39)	E445G	possibly damaging	Het
Ipo8	T	C	6: 148,678,787 (GRCm39)	E937G	probably benign	Het
Kif5a	A	C	10: 127,081,608 (GRCm39)	D185E	probably benign	Het
Klhl38	T	C	15: 58,178,485 (GRCm39)	D495G	probably damaging	Het
Klra5	A	G	6: 129,888,393 (GRCm39)	V11A	probably benign	Het
Lrch1	G	A	14: 75,023,782 (GRCm39)	T581M	probably damaging	Het
Mecom	A	G	3: 30,017,315 (GRCm39)	I450T	probably damaging	Het
Mrgprb2	C	A	7: 48,202,312 (GRCm39)	V138L	probably damaging	Het
Muc15	G	A	2: 110,561,941 (GRCm39)	A126T	probably benign	Het
Mybpc1	A	T	10: 88,367,632 (GRCm39)	I522K	probably damaging	Het
Nectin1	G	A	9: 43,703,444 (GRCm39)	R234H	probably damaging	Het
Or5b98	T	C	19: 12,931,406 (GRCm39)	F151S	probably benign	Het
Or5h22	A	T	16: 58,894,630 (GRCm39)	I271K	probably benign	Het
Pdia6	T	A	12: 17,324,423 (GRCm39)	H91Q	possibly damaging	Het
Pfkfb4	A	T	9: 108,858,010 (GRCm39)	H445L	probably damaging	Het
Pkd1l1	T	C	11: 8,911,336 (GRCm39)	T314A	unknown	Het
Rb1cc1	A	G	1: 6,308,592 (GRCm39)	D159G	probably damaging	Het
Rhoh	T	A	5: 66,050,031 (GRCm39)	S100R	probably benign	Het
Rsbn1	T	A	3: 103,868,816 (GRCm39)	D618E	probably damaging	Het
Slc25a47	T	C	12: 108,817,116 (GRCm39)	V4A	probably damaging	Het
Svs3b	T	A	2: 164,098,541 (GRCm39)	M1L	probably benign	Het
Thsd7a	T	C	6: 12,331,005 (GRCm39)	N1379S	probably benign	Het
Tmed3	T	C	9: 89,586,806 (GRCm39)	D58G	probably benign	Het
Trh	G	A	6: 92,219,596 (GRCm39)	A240V	probably benign	Het
Vmn2r67	A	G	7: 84,800,649 (GRCm39)		probably null	Het
Vps13c	A	G	9: 67,837,925 (GRCm39)	H1825R	probably benign	Het
Wasf1	C	A	10: 40,812,197 (GRCm39)	P329T	unknown	Het
Wee2	T	C	6: 40,432,087 (GRCm39)	F219L	probably damaging	Het
Zp3r	T	C	1: 130,526,678 (GRCm39)	D175G	probably damaging	Het

Other mutations in Ubox5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00538:Ubox5	APN	2	130,441,808 (GRCm39)	missense	probably damaging	0.99
IGL01947:Ubox5	APN	2	130,442,579 (GRCm39)	missense	possibly damaging	0.95
IGL02252:Ubox5	APN	2	130,441,707 (GRCm39)	missense	probably damaging	1.00
IGL02994:Ubox5	APN	2	130,442,237 (GRCm39)	missense	probably benign	0.13
IGL03150:Ubox5	APN	2	130,442,060 (GRCm39)	missense	probably benign	0.44
PIT4403001:Ubox5	UTSW	2	130,442,597 (GRCm39)	missense	probably damaging	0.99
R0792:Ubox5	UTSW	2	130,442,630 (GRCm39)	missense	probably damaging	0.99
R1344:Ubox5	UTSW	2	130,442,210 (GRCm39)	missense	probably damaging	1.00
R1418:Ubox5	UTSW	2	130,442,210 (GRCm39)	missense	probably damaging	1.00
R1436:Ubox5	UTSW	2	130,439,213 (GRCm39)	unclassified	probably benign
R1608:Ubox5	UTSW	2	130,439,376 (GRCm39)	missense	probably benign	0.04
R1650:Ubox5	UTSW	2	130,442,345 (GRCm39)	missense	probably benign	0.03
R1772:Ubox5	UTSW	2	130,433,794 (GRCm39)	missense	probably benign	0.24
R2495:Ubox5	UTSW	2	130,441,441 (GRCm39)	nonsense	probably null
R4767:Ubox5	UTSW	2	130,433,814 (GRCm39)	missense	probably damaging	1.00
R5107:Ubox5	UTSW	2	130,441,688 (GRCm39)	missense	probably damaging	1.00
R8271:Ubox5	UTSW	2	130,441,629 (GRCm39)	missense	probably benign
R8290:Ubox5	UTSW	2	130,442,333 (GRCm39)	missense	probably damaging	1.00
R9330:Ubox5	UTSW	2	130,442,165 (GRCm39)	missense	probably benign	0.00
R9599:Ubox5	UTSW	2	130,441,835 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07