Mutagenetix > Incidental Mutation

Incidental Mutation 'R5840:Ubxn4'

450351

Institutional Source

Beutler Lab

Gene Symbol

Ubxn4

Ensembl Gene

ENSMUSG00000026353

Gene Name

UBX domain protein 4

Synonyms

Ubxd2, 1300013G12Rik

MMRRC Submission

044060-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.512) question?

Stock #

R5840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128171701-128207115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128187262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 85 (V85D)

Ref Sequence

ENSEMBL: ENSMUSP00000141085 (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: V196D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027592
Gene: ENSMUSG00000026353
AA Change: V196D

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

possibly damaging
Transcript: ENSMUST00000190736
AA Change: V85D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 96.5%
20x: 88.1%

Validation Efficiency

99% (75/76)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,323,371 (GRCm39)	R113Q	probably benign	Het
Aip	G	A	19: 4,166,010 (GRCm39)	P147L	possibly damaging	Het
Anapc1	A	C	2: 128,448,957 (GRCm39)		probably benign	Het
Arhgap42	C	T	9: 9,046,518 (GRCm39)	V240I	possibly damaging	Het
Axdnd1	T	C	1: 156,176,528 (GRCm39)	E684G	probably damaging	Het
BC005624	G	A	2: 30,871,869 (GRCm39)	R2W	probably benign	Het
Cd177	T	G	7: 24,457,495 (GRCm39)	Q182P	probably damaging	Het
Cdca5	G	A	19: 6,140,399 (GRCm39)	E187K	possibly damaging	Het
Chmp1a	T	C	8: 123,934,839 (GRCm39)	Q39R	probably benign	Het
Dab2ip	A	G	2: 35,617,511 (GRCm39)	I1079V	probably damaging	Het
Dip2c	A	T	13: 9,556,712 (GRCm39)	E85D	possibly damaging	Het
Elmo2	A	T	2: 165,137,472 (GRCm39)	S497R	possibly damaging	Het
Ephb6	C	T	6: 41,592,507 (GRCm39)	A339V	possibly damaging	Het
Foxred1	T	C	9: 35,121,435 (GRCm39)	K38E	probably damaging	Het
Frem2	T	A	3: 53,555,342 (GRCm39)	T1732S	probably damaging	Het
Fto	A	G	8: 92,393,068 (GRCm39)		probably benign	Het
Gm17430	T	A	18: 9,726,528 (GRCm39)	Q48L	probably damaging	Het
Gng2	A	G	14: 19,925,882 (GRCm39)	I70T	probably damaging	Het
Gtf2a2	A	G	9: 69,922,575 (GRCm39)		probably benign	Het
Invs	A	G	4: 48,396,284 (GRCm39)	D263G	probably damaging	Het
Itga2b	C	T	11: 102,352,157 (GRCm39)	V475M	probably damaging	Het
Kansl1l	A	G	1: 66,809,374 (GRCm39)		probably benign	Het
Klhl25	T	C	7: 75,516,440 (GRCm39)	F449L	possibly damaging	Het
Lamb1	T	A	12: 31,316,755 (GRCm39)	C83S	probably damaging	Het
Loxl4	G	T	19: 42,587,154 (GRCm39)	T648K	probably damaging	Het
Lrit2	T	C	14: 36,790,962 (GRCm39)	F214L	possibly damaging	Het
N4bp2	T	G	5: 65,965,437 (GRCm39)	L1162R	probably damaging	Het
Naa40	A	T	19: 7,207,373 (GRCm39)	I117N	probably benign	Het
Ncapd3	T	C	9: 27,006,054 (GRCm39)	S1492P	probably benign	Het
Nf2	T	A	11: 4,766,146 (GRCm39)	D128V	probably benign	Het
Nox4	T	C	7: 87,010,001 (GRCm39)	S401P	probably benign	Het
Nt5c1b	T	C	12: 10,427,171 (GRCm39)	V323A	probably damaging	Het
Or52a33	C	T	7: 103,288,463 (GRCm39)	V295I	probably benign	Het
Or52s19	T	A	7: 103,007,576 (GRCm39)	H275L	probably damaging	Het
Or5b118	G	A	19: 13,449,242 (GRCm39)	V303I	probably benign	Het
Pcdhb14	T	C	18: 37,581,803 (GRCm39)	V303A	probably benign	Het
Pde8a	C	A	7: 80,863,713 (GRCm39)	H17Q	probably benign	Het
Pfkl	C	T	10: 77,824,558 (GRCm39)	V716I	probably benign	Het
Phc3	G	A	3: 30,990,732 (GRCm39)	S495L	possibly damaging	Het
Psg18	A	G	7: 18,080,527 (GRCm39)		probably benign	Het
Rcc2	T	G	4: 140,439,449 (GRCm39)	N175K	possibly damaging	Het
Rhot2	G	A	17: 26,059,032 (GRCm39)	T276I	probably benign	Het
Rnase9	A	T	14: 51,276,445 (GRCm39)	Y178N	probably benign	Het
Sema4b	T	C	7: 79,868,697 (GRCm39)	C297R	probably damaging	Het
Slc35d2	T	C	13: 64,266,227 (GRCm39)		probably null	Het
Sptlc3	A	T	2: 139,389,126 (GRCm39)	N169Y	probably damaging	Het
Srsf9	T	G	5: 115,469,524 (GRCm39)	M29R	probably benign	Het
Stip1	C	A	19: 6,999,436 (GRCm39)	D449Y	possibly damaging	Het
Syne2	T	A	12: 75,927,065 (GRCm39)		probably null	Het
Tgm5	A	G	2: 120,916,141 (GRCm39)		probably null	Het
Thbs2	A	T	17: 14,901,692 (GRCm39)		probably null	Het
Trak2	T	C	1: 58,958,432 (GRCm39)	E283G	probably damaging	Het
Trbv21	A	G	6: 41,179,792 (GRCm39)	Y36C	probably damaging	Het
Trpm7	A	T	2: 126,664,531 (GRCm39)	Y949*	probably null	Het
Ubqln5	T	C	7: 103,778,161 (GRCm39)	D221G	possibly damaging	Het
Vmn1r172	T	A	7: 23,359,600 (GRCm39)	W162R	probably benign	Het
Vrk2	A	G	11: 26,484,314 (GRCm39)		probably benign	Het
Zc3h8	A	C	2: 128,771,824 (GRCm39)	D276E	probably benign	Het
Zfp369	C	T	13: 65,445,092 (GRCm39)	T745I	possibly damaging	Het
Zfp608	T	C	18: 55,031,978 (GRCm39)	K654R	probably damaging	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
R0658: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
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'- ACTCAAGAGGCAAGGTTACTAG -3'
(R):5'- AAATGCTCAGATCTACAGCTGAC -3'

Sequencing Primer
(F):5'- GTATTCCTGACTGGTCTGAAATTCAC -3'
(R):5'- GCTGACTGACAACTTCAAAGATACAG -3'

Posted On

2016-12-20