Mutagenetix > Incidental Mutation

Incidental Mutation 'R0792:Ubox5'

82444

Institutional Source

Beutler Lab

Gene Symbol

Ubox5

Ensembl Gene

ENSMUSG00000027300

Gene Name

U box domain containing 5

Synonyms

1500010O06Rik, UIP5, C330018L13Rik

MMRRC Submission

038972-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0792 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130431922-130471958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130442630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 19 (V19E)

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: V19E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028761
Gene: ENSMUSG00000027300
AA Change: V19E

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

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 95.1%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,268,924 (GRCm39)	V195A	probably benign	Het
Adgrb1	A	G	15: 74,452,466 (GRCm39)	M211V	probably damaging	Het
Ahnak	G	T	19: 8,994,098 (GRCm39)	M5127I	probably benign	Het
Akr1c13	T	C	13: 4,244,111 (GRCm39)	Y55H	probably damaging	Het
Ap3d1	A	T	10: 80,544,313 (GRCm39)	H1161Q	probably benign	Het
Armh3	A	T	19: 45,922,307 (GRCm39)		probably null	Het
Atp2b2	C	T	6: 113,750,349 (GRCm39)	R625H	probably damaging	Het
Bdnf	G	A	2: 109,554,463 (GRCm39)	C239Y	probably damaging	Het
Bpifa5	G	T	2: 154,007,539 (GRCm39)		probably null	Het
C9	T	A	15: 6,516,243 (GRCm39)	F349I	probably damaging	Het
Ccdc180	T	C	4: 45,927,975 (GRCm39)	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,815,477 (GRCm39)	V1846A	probably benign	Het
Cep68	A	T	11: 20,190,652 (GRCm39)	L120H	possibly damaging	Het
Cntrl	T	A	2: 35,045,291 (GRCm39)	I781K	possibly damaging	Het
Cpne1	G	T	2: 155,919,339 (GRCm39)	Q343K	probably benign	Het
Dlc1	A	T	8: 37,405,702 (GRCm39)	I29K	probably benign	Het
Dnah9	T	C	11: 65,786,827 (GRCm39)	D3602G	possibly damaging	Het
Dock1	A	G	7: 134,475,879 (GRCm39)	S885G	probably benign	Het
Evpl	T	A	11: 116,118,549 (GRCm39)	Q686L	probably damaging	Het
Fmo6	C	T	1: 162,748,132 (GRCm39)	A311T	probably damaging	Het
Gli1	A	T	10: 127,168,446 (GRCm39)	M469K	probably damaging	Het
Grin2c	G	A	11: 115,141,472 (GRCm39)	P882L	probably damaging	Het
H2-Ob	C	T	17: 34,461,588 (GRCm39)	T109I	probably damaging	Het
Jpt2	C	A	17: 25,167,647 (GRCm39)	A101S	probably benign	Het
Krt1c	A	G	15: 101,724,932 (GRCm39)	V226A	probably damaging	Het
Lamc1	T	C	1: 153,110,358 (GRCm39)	S1106G	probably benign	Het
Lamc1	C	A	1: 153,110,326 (GRCm39)	Q1116H	possibly damaging	Het
Lamc1	T	G	1: 153,110,341 (GRCm39)	Q1111H	probably damaging	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Lrp1	A	T	10: 127,411,155 (GRCm39)	D1399E	probably benign	Het
Ltbp4	G	T	7: 27,024,485 (GRCm39)	P715Q	probably damaging	Het
Mtor	T	C	4: 148,547,367 (GRCm39)	V450A	probably benign	Het
Muc6	G	A	7: 141,223,981 (GRCm39)		probably benign	Het
Myom1	A	T	17: 71,428,131 (GRCm39)	I1450F	probably damaging	Het
Naip6	A	G	13: 100,420,274 (GRCm39)	I1332T	possibly damaging	Het
Ncstn	A	G	1: 171,899,072 (GRCm39)	V353A	possibly damaging	Het
Nt5c3	T	C	6: 56,863,734 (GRCm39)	T149A	probably benign	Het
Or5ac21	A	T	16: 59,124,352 (GRCm39)	I280F	probably damaging	Het
Or5p81	A	G	7: 108,267,364 (GRCm39)	H247R	probably damaging	Het
Paip1	T	C	13: 119,566,854 (GRCm39)	S54P	possibly damaging	Het
Prdm14	G	T	1: 13,195,968 (GRCm39)	A31E	probably benign	Het
Prr14l	A	G	5: 32,985,767 (GRCm39)	S1243P	probably damaging	Het
Prss1	T	C	6: 41,435,878 (GRCm39)	M1T	probably null	Het
Raver2	T	A	4: 100,960,147 (GRCm39)	V209D	probably damaging	Het
Scube1	T	A	15: 83,512,277 (GRCm39)		probably null	Het
Serpina3c	T	A	12: 104,117,805 (GRCm39)	I178F	probably damaging	Het
Slc16a13	A	T	11: 70,111,457 (GRCm39)	V16E	probably damaging	Het
Slc30a6	T	C	17: 74,722,640 (GRCm39)	S236P	possibly damaging	Het
Sobp	A	C	10: 42,898,689 (GRCm39)	S299A	probably damaging	Het
Sorcs3	C	A	19: 48,694,448 (GRCm39)	T574K	possibly damaging	Het
Trak2	A	T	1: 58,942,820 (GRCm39)	M862K	probably benign	Het
Vmn1r173	A	G	7: 23,402,160 (GRCm39)	T132A	probably benign	Het
Zfp267	A	G	3: 36,218,711 (GRCm39)	M244V	probably benign	Het
Zfp820	T	C	17: 22,038,509 (GRCm39)	D273G	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
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

Predicted Primers

PCR Primer
(F):5'- GGCATCCTGAGAGACTCTGCTAGATAA -3'
(R):5'- ccctgtctcaaaaGCCAAAGAGAATCAA -3'

Sequencing Primer
(F):5'- GGCCAGAGACATTCTGATATCC -3'
(R):5'- tgggaggcagaggcagg -3'

Posted On

2013-11-08