Mutagenetix > Incidental Mutation

Incidental Mutation 'R5107:Ubox5'

393592

Institutional Source

Beutler Lab

Gene Symbol

Ubox5

Ensembl Gene

ENSMUSG00000027300

Gene Name

U box domain containing 5

Synonyms

1500010O06Rik, UIP5, C330018L13Rik

MMRRC Submission

042695-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5107 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130431922-130471958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130441688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 333 (L333P)

Ref Sequence

ENSEMBL: ENSMUSP00000028761 (fasta)

Gene Model

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

AlphaFold

Q925F4

Predicted Effect

probably damaging
Transcript: ENSMUST00000028761
AA Change: L333P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028761
Gene: ENSMUSG00000027300
AA Change: L333P

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

Meta Mutation Damage Score

0.7034

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

98% (56/57)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 61,001,472 (GRCm39)	N85S	possibly damaging	Het
Adgre1	A	G	17: 57,708,977 (GRCm39)	Y56C	possibly damaging	Het
Agbl5	C	A	5: 31,049,822 (GRCm39)	P257Q	probably damaging	Het
Angptl2	A	T	2: 33,118,615 (GRCm39)	M130L	probably damaging	Het
Atp6v1f	T	A	6: 29,468,198 (GRCm39)		probably null	Het
Ccdc78	G	A	17: 26,006,454 (GRCm39)	V133M	possibly damaging	Het
Clpx	A	G	9: 65,215,821 (GRCm39)	K145E	possibly damaging	Het
Col18a1	T	C	10: 76,913,057 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Igkv4-54	T	C	6: 69,608,914 (GRCm39)	I24V	possibly damaging	Het
Ikzf3	A	G	11: 98,381,302 (GRCm39)	Y93H	probably damaging	Het
Isl2	T	C	9: 55,449,570 (GRCm39)	V82A	probably benign	Het
Kcnq2	A	T	2: 180,750,340 (GRCm39)		probably benign	Het
Krt4	A	T	15: 101,831,226 (GRCm39)	M225K	possibly damaging	Het
Ksr2	T	C	5: 117,827,673 (GRCm39)	V484A	probably benign	Het
Lrba	T	A	3: 86,267,086 (GRCm39)	V1592E	possibly damaging	Het
Lrrc7	G	A	3: 157,867,533 (GRCm39)	P736L	probably damaging	Het
Mettl8	A	T	2: 70,795,901 (GRCm39)	F376I	probably damaging	Het
Muc5b	T	A	7: 141,409,268 (GRCm39)	H1117Q	unknown	Het
Myh7	T	A	14: 55,223,881 (GRCm39)		probably benign	Het
Myod1	G	T	7: 46,027,218 (GRCm39)	A228S	probably benign	Het
Ntrk1	T	C	3: 87,702,280 (GRCm39)	T58A	probably benign	Het
Or12d17	A	G	17: 37,777,144 (GRCm39)	T16A	probably damaging	Het
Pdcd11	T	A	19: 47,094,893 (GRCm39)	V559E	probably damaging	Het
Pde10a	A	G	17: 9,163,802 (GRCm39)	N191S	probably damaging	Het
Phf3	A	G	1: 30,870,566 (GRCm39)	S161P	probably benign	Het
Pias1	C	A	9: 62,789,510 (GRCm39)	A566S	probably benign	Het
Pik3c2g	T	C	6: 139,612,623 (GRCm39)		probably benign	Het
Pmp22	A	G	11: 63,049,237 (GRCm39)	E160G	probably damaging	Het
Polb	T	C	8: 23,135,062 (GRCm39)		probably null	Het
Prob1	T	C	18: 35,785,989 (GRCm39)	N755S	possibly damaging	Het
Rhou	A	T	8: 124,387,912 (GRCm39)	K215*	probably null	Het
Scaper	A	G	9: 55,487,616 (GRCm39)	S749P	probably damaging	Het
Selenop	A	G	15: 3,305,075 (GRCm39)	E77G	probably damaging	Het
Sema3a	C	A	5: 13,627,572 (GRCm39)	S490*	probably null	Het
Slc26a2	A	G	18: 61,331,632 (GRCm39)	Y600H	probably damaging	Het
Slfn8	A	C	11: 82,907,976 (GRCm39)	I189S	probably damaging	Het
Stab1	T	A	14: 30,885,752 (GRCm39)		probably null	Het
Tbc1d13	G	A	2: 30,036,733 (GRCm39)	E205K	probably damaging	Het
Tex47	C	T	5: 7,354,842 (GRCm39)	R8W	probably benign	Het
Tmem198b	T	C	10: 128,638,156 (GRCm39)	T136A	probably benign	Het
Trim36	T	C	18: 46,305,705 (GRCm39)	Q414R	probably benign	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Ttn	A	G	2: 76,608,496 (GRCm39)	I16063T	probably damaging	Het
Ttn	A	G	2: 76,693,905 (GRCm39)	V321A	possibly damaging	Het
Vmn2r19	T	A	6: 123,286,602 (GRCm39)	Y78*	probably null	Het
Wnk4	A	G	11: 101,166,364 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,340,054 (GRCm39)	D765G	probably damaging	Het
Xirp2	G	T	2: 67,342,205 (GRCm39)	G1482V	probably damaging	Het
Znhit1	A	G	5: 137,015,682 (GRCm39)	V2A	probably benign	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
IGL01978:Ubox5	APN	2	130,442,372 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- ATCTTCTTGGCAGTTGGCTC -3'
(R):5'- ACCCTGGAGATCATGCCATG -3'

Sequencing Primer
(F):5'- CAGTTGGCTCTGAGGTAGTAG -3'
(R):5'- GAGATCATGCCATGCCCCATG -3'

Posted On

2016-06-15