Mutagenetix > Incidental Mutation

Incidental Mutation 'R0658:Ubxn4'

62596

Institutional Source

Beutler Lab

Gene Symbol

Ubxn4

Ensembl Gene

ENSMUSG00000026353

Gene Name

UBX domain protein 4

Synonyms

Ubxd2, 1300013G12Rik

MMRRC Submission

038843-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.512) question?

Stock #

R0658 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

128171701-128207115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128190641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 256 (E256K)

Ref Sequence

ENSEMBL: ENSMUSP00000027592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027592] [ENSMUST00000190736]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027592
AA Change: E256K

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000027592
Gene: ENSMUSG00000026353
AA Change: E256K

Domain	Start	End	E-Value	Type
coiled coil region	191	290	N/A	INTRINSIC
UBX	309	393	5.63e-32	SMART
low complexity region	444	460	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187031

Predicted Effect

probably benign
Transcript: ENSMUST00000190736

Meta Mutation Damage Score

0.2133

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UBXD2 is an integral membrane protein of the endoplasmic reticulum (ER) that binds valosin-containing protein (VCP; MIM 601023) and promotes ER-associated protein degradation (ERAD) (Liang et al., 2006 [PubMed 16968747]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	C	T	5: 100,965,827 (GRCm39)		probably null	Het
Acsl3	A	G	1: 78,679,004 (GRCm39)	D520G	probably damaging	Het
Adgrl3	T	C	5: 81,796,560 (GRCm39)	V623A	probably benign	Het
Ak9	G	T	10: 41,223,218 (GRCm39)	V454L	probably damaging	Het
Alpk2	C	A	18: 65,482,558 (GRCm39)	K483N	probably damaging	Het
Arhgef12	T	C	9: 42,893,281 (GRCm39)	Y974C	probably damaging	Het
Armc8	C	T	9: 99,418,211 (GRCm39)		probably benign	Het
Atp2a2	C	T	5: 122,595,696 (GRCm39)		probably benign	Het
Atrn	T	C	2: 130,812,147 (GRCm39)		probably null	Het
Caps2	T	A	10: 112,039,943 (GRCm39)		probably benign	Het
Cep76	A	G	18: 67,756,374 (GRCm39)	S486P	probably damaging	Het
Cep97	C	T	16: 55,735,265 (GRCm39)	R583H	probably benign	Het
Cog7	A	G	7: 121,555,363 (GRCm39)		probably benign	Het
Commd5	T	A	15: 76,784,768 (GRCm39)	V55E	probably damaging	Het
Csmd3	A	T	15: 47,874,543 (GRCm39)	D684E	possibly damaging	Het
Ctxn2	T	C	2: 124,989,376 (GRCm39)	M1T	probably null	Het
Exph5	A	G	9: 53,288,775 (GRCm39)	D1952G	unknown	Het
Fmo2	A	T	1: 162,704,343 (GRCm39)	L521Q	possibly damaging	Het
Fryl	T	A	5: 73,222,702 (GRCm39)	T1960S	probably damaging	Het
G6pd2	T	C	5: 61,967,017 (GRCm39)	L264P	probably damaging	Het
Gne	A	T	4: 44,039,033 (GRCm39)	V647E	possibly damaging	Het
Grb14	G	A	2: 64,745,071 (GRCm39)	Q96*	probably null	Het
Gtf3c1	A	G	7: 125,298,134 (GRCm39)	F146L	probably damaging	Het
Gvin3	C	A	7: 106,202,093 (GRCm39)	V384L	possibly damaging	Het
Irak2	A	G	6: 113,615,525 (GRCm39)	Y6C	probably damaging	Het
Kel	T	A	6: 41,679,965 (GRCm39)	N75I	probably damaging	Het
Lgr4	T	A	2: 109,842,132 (GRCm39)	F706I	possibly damaging	Het
Lox	A	T	18: 52,661,955 (GRCm39)	S149R	probably benign	Het
Lrrc66	T	G	5: 73,768,287 (GRCm39)	D218A	probably benign	Het
Luc7l	C	T	17: 26,485,296 (GRCm39)	R99W	probably damaging	Het
Megf10	T	C	18: 57,385,968 (GRCm39)	V327A	probably benign	Het
Mthfd1l	G	T	10: 3,997,976 (GRCm39)		probably null	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Myh8	G	T	11: 67,175,358 (GRCm39)		probably null	Het
Or5b109	A	T	19: 13,212,424 (GRCm39)	D270V	possibly damaging	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pgf	C	T	12: 85,216,159 (GRCm39)	R153K	probably benign	Het
Pramel12	A	T	4: 143,144,170 (GRCm39)	Q172L	probably damaging	Het
Prdm2	A	G	4: 142,861,835 (GRCm39)	V485A	probably damaging	Het
Rag1	T	C	2: 101,473,028 (GRCm39)	T705A	probably damaging	Het
Rflna	A	C	5: 125,080,774 (GRCm39)	D48A	possibly damaging	Het
Rnf148	A	T	6: 23,654,456 (GRCm39)	I180N	probably damaging	Het
Rtn4	T	A	11: 29,656,475 (GRCm39)	S94T	probably damaging	Het
Scn11a	G	A	9: 119,640,226 (GRCm39)	T223I	probably benign	Het
Scube2	T	A	7: 109,436,327 (GRCm39)		probably benign	Het
Septin14	T	C	5: 129,774,972 (GRCm39)	I68V	probably benign	Het
Sil1	A	T	18: 35,399,910 (GRCm39)	L365Q	possibly damaging	Het
Sirt1	A	G	10: 63,157,515 (GRCm39)		probably benign	Het
Slc9a1	T	C	4: 133,147,810 (GRCm39)		probably benign	Het
Smpdl3a	A	G	10: 57,687,336 (GRCm39)	T355A	probably damaging	Het
Syne2	T	C	12: 76,141,110 (GRCm39)	I6074T	probably damaging	Het
Thbs2	T	A	17: 14,900,587 (GRCm39)	H540L	probably benign	Het
Tsc22d4	T	C	5: 137,766,283 (GRCm39)	S450P	probably benign	Het
Tshr	C	A	12: 91,505,000 (GRCm39)	S54*	probably null	Het
Uncx	G	T	5: 139,529,942 (GRCm39)	C65F	probably damaging	Het
Vmn1r87	A	T	7: 12,865,756 (GRCm39)	M177K	probably damaging	Het
Vmn2r56	A	T	7: 12,444,235 (GRCm39)	C466S	probably benign	Het
Wnk1	G	A	6: 119,925,466 (GRCm39)	P1831S	probably damaging	Het
Zfp820	T	C	17: 22,037,901 (GRCm39)	S476G	probably benign	Het

Other mutations in Ubxn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Ubxn4	APN	1	128,187,202 (GRCm39)	missense	possibly damaging	0.90
IGL02302:Ubxn4	APN	1	128,183,848 (GRCm39)	intron	probably benign
IGL03066:Ubxn4	APN	1	128,188,591 (GRCm39)	splice site	probably null
E0370:Ubxn4	UTSW	1	128,190,641 (GRCm39)	missense	probably benign	0.23
P4748:Ubxn4	UTSW	1	128,190,641 (GRCm39)	missense	probably benign	0.23
R0008:Ubxn4	UTSW	1	128,190,641 (GRCm39)	missense	probably benign	0.23
R0086:Ubxn4	UTSW	1	128,190,641 (GRCm39)	missense	probably benign	0.23
R0087:Ubxn4	UTSW	1	128,190,641 (GRCm39)	missense	probably benign	0.23
R0220:Ubxn4	UTSW	1	128,183,931 (GRCm39)	missense	possibly damaging	0.86
R0244:Ubxn4	UTSW	1	128,190,641 (GRCm39)	missense	probably benign	0.23
R0464:Ubxn4	UTSW	1	128,190,641 (GRCm39)	missense	probably benign	0.23
R0465:Ubxn4	UTSW	1	128,190,641 (GRCm39)	missense	probably benign	0.23
R0466:Ubxn4	UTSW	1	128,190,641 (GRCm39)	missense	probably benign	0.23
R0467:Ubxn4	UTSW	1	128,190,641 (GRCm39)	missense	probably benign	0.23
R1430:Ubxn4	UTSW	1	128,202,617 (GRCm39)	missense	probably benign	0.03
R1623:Ubxn4	UTSW	1	128,200,588 (GRCm39)	missense	possibly damaging	0.62
R1700:Ubxn4	UTSW	1	128,180,023 (GRCm39)	missense	possibly damaging	0.89
R1764:Ubxn4	UTSW	1	128,183,916 (GRCm39)	missense	probably damaging	1.00
R2128:Ubxn4	UTSW	1	128,172,247 (GRCm39)	missense	probably benign
R2472:Ubxn4	UTSW	1	128,200,606 (GRCm39)	missense	probably damaging	1.00
R4610:Ubxn4	UTSW	1	128,183,186 (GRCm39)	missense	probably benign	0.03
R4651:Ubxn4	UTSW	1	128,202,587 (GRCm39)	missense	probably benign	0.32
R4652:Ubxn4	UTSW	1	128,202,587 (GRCm39)	missense	probably benign	0.32
R4804:Ubxn4	UTSW	1	128,194,141 (GRCm39)	nonsense	probably null
R5735:Ubxn4	UTSW	1	128,186,677 (GRCm39)	missense	possibly damaging	0.83
R5826:Ubxn4	UTSW	1	128,194,058 (GRCm39)	missense	possibly damaging	0.80
R5840:Ubxn4	UTSW	1	128,187,262 (GRCm39)	missense	possibly damaging	0.92
R5883:Ubxn4	UTSW	1	128,183,867 (GRCm39)	missense	probably damaging	1.00
R6637:Ubxn4	UTSW	1	128,204,824 (GRCm39)	missense	probably damaging	1.00
R6827:Ubxn4	UTSW	1	128,204,714 (GRCm39)	missense	probably benign
R7092:Ubxn4	UTSW	1	128,179,959 (GRCm39)	missense	probably benign	0.29
R7449:Ubxn4	UTSW	1	128,172,280 (GRCm39)	missense	possibly damaging	0.88
R8049:Ubxn4	UTSW	1	128,183,933 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCACTGAGCCATCTCACCAGCAA -3'
(R):5'- TCAGCAGGCACAGCTAAGAGAATCTCAA -3'

Sequencing Primer
(F):5'- cagacacaccagaagaaggag -3'
(R):5'- TCTCAAGCTCAGCAGAGGC -3'

Posted On

2013-07-30