Mutagenetix > Incidental Mutation

Incidental Mutation 'R7449:Ubxn4'

577538

Institutional Source

Beutler Lab

Gene Symbol

Ubxn4

Ensembl Gene

ENSMUSG00000026353

Gene Name

UBX domain protein 4

Synonyms

Ubxd2, 1300013G12Rik

MMRRC Submission

045524-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.464) question?

Stock #

R7449 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128243964-128279378 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128244543 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 25 (F25I)

Ref Sequence

ENSEMBL: ENSMUSP00000027592 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027592
AA Change: F25I

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027592
Gene: ENSMUSG00000026353
AA Change: F25I

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

probably benign
Transcript: ENSMUST00000190736

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,435,908 (GRCm38)	Y306N	possibly damaging	Het
Adgrv1	A	T	13: 81,499,073 (GRCm38)	V3116D	probably damaging	Het
Adssl1	A	T	12: 112,634,151 (GRCm38)	T185S	probably damaging	Het
Ago2	G	A	15: 73,146,499 (GRCm38)	P30L	probably damaging	Het
Atp5j	C	T	16: 84,831,363 (GRCm38)	V44M	probably benign	Het
Atp7b	T	A	8: 22,011,849 (GRCm38)	I833F	probably damaging	Het
Birc6	T	A	17: 74,702,341 (GRCm38)	N4869K	probably benign	Het
Cacna1c	C	T	6: 118,602,349 (GRCm38)	D1796N		Het
Ccng2	C	G	5: 93,273,343 (GRCm38)	S237R	probably benign	Het
Cnga1	A	G	5: 72,605,304 (GRCm38)	I289T	probably benign	Het
Crybg1	C	A	10: 44,004,519 (GRCm38)	E224D	probably benign	Het
Dysf	T	C	6: 84,137,380 (GRCm38)	L1217P	possibly damaging	Het
Ebf2	T	A	14: 67,410,020 (GRCm38)	N339K	probably damaging	Het
Eva1c	T	C	16: 90,876,193 (GRCm38)		probably null	Het
Fam172a	A	G	13: 77,759,442 (GRCm38)	I41V	probably damaging	Het
Fam184a	T	C	10: 53,698,634 (GRCm38)	E293G	probably damaging	Het
Folh1	G	A	7: 86,731,748 (GRCm38)	P506S	probably benign	Het
Ftcd	A	T	10: 76,580,163 (GRCm38)	K210N	probably benign	Het
Gdf6	T	A	4: 9,844,494 (GRCm38)	V6D	possibly damaging	Het
Ghitm	C	A	14: 37,131,581 (GRCm38)	G101C	probably damaging	Het
Gimap5	T	A	6: 48,752,904 (GRCm38)	V136D	probably damaging	Het
Gm9745	T	A	13: 8,943,304 (GRCm38)	H51L	probably damaging	Het
Grm4	C	T	17: 27,435,371 (GRCm38)	G535D	probably damaging	Het
Gse1	T	C	8: 120,229,711 (GRCm38)	S314P	unknown	Het
Hnrnpdl	A	G	5: 100,037,155 (GRCm38)	I279T	probably damaging	Het
Itpr1	T	C	6: 108,389,384 (GRCm38)	S923P	probably damaging	Het
Krt39	C	A	11: 99,518,061 (GRCm38)	C303F	probably benign	Het
Lrrn1	T	C	6: 107,568,521 (GRCm38)	S427P	possibly damaging	Het
Lrrn3	T	A	12: 41,453,488 (GRCm38)	R277W	probably damaging	Het
Ltb4r1	T	C	14: 55,767,918 (GRCm38)	L226P	probably damaging	Het
Map1b	C	T	13: 99,508,140 (GRCm38)	R85Q	probably damaging	Het
Mcoln1	T	C	8: 3,507,285 (GRCm38)	L125P	probably damaging	Het
Nid1	T	G	13: 13,482,051 (GRCm38)	V589G	probably damaging	Het
Nlrp5	T	G	7: 23,417,526 (GRCm38)	F225C	probably benign	Het
Notch3	C	T	17: 32,157,966 (GRCm38)	A322T	probably damaging	Het
Olfr299	A	G	7: 86,465,855 (GRCm38)	H148R	probably benign	Het
Olfr69	G	T	7: 103,767,819 (GRCm38)	Q193K	probably benign	Het
Olfr854	T	A	9: 19,566,866 (GRCm38)	T173S	probably benign	Het
Otogl	A	G	10: 107,803,663 (GRCm38)	C1363R	probably damaging	Het
Ovol1	T	A	19: 5,553,597 (GRCm38)	D92V	probably benign	Het
Pigt	T	C	2: 164,502,499 (GRCm38)	L356P	probably damaging	Het
Plekhg3	A	G	12: 76,566,222 (GRCm38)	Q434R	probably damaging	Het
Plekhh1	T	C	12: 79,079,552 (GRCm38)	F1344L	probably benign	Het
Psmd3	T	A	11: 98,695,551 (GRCm38)	L515Q	probably damaging	Het
Pus1	A	G	5: 110,774,586 (GRCm38)	L405P	probably damaging	Het
Qtrt2	T	A	16: 43,881,032 (GRCm38)	H55L	probably benign	Het
Rasgrp1	T	C	2: 117,287,943 (GRCm38)	I522V	probably damaging	Het
Raver2	T	A	4: 101,102,663 (GRCm38)	H113Q	probably damaging	Het
Recql4	T	C	15: 76,705,565 (GRCm38)	D760G	unknown	Het
Rhobtb3	C	T	13: 75,910,741 (GRCm38)	V313M	probably benign	Het
Rhox4d	G	A	X: 37,518,992 (GRCm38)	G191E	unknown	Het
Rictor	C	T	15: 6,772,154 (GRCm38)	S441L	probably benign	Het
Rnf185	T	C	11: 3,426,578 (GRCm38)	Q135R	probably benign	Het
Sema3f	T	C	9: 107,684,036 (GRCm38)	S584G	probably damaging	Het
Sh3pxd2a	T	A	19: 47,267,652 (GRCm38)	T904S	probably benign	Het
Slc4a10	T	C	2: 62,303,946 (GRCm38)	V1002A	probably benign	Het
Taf1b	T	C	12: 24,504,993 (GRCm38)	I55T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708 (GRCm38)		probably benign	Het
Tenm4	A	T	7: 96,874,213 (GRCm38)	D1654V	possibly damaging	Het
Tgfb1	G	A	7: 25,704,838 (GRCm38)	V357M	probably damaging	Het
Tnxb	C	T	17: 34,703,361 (GRCm38)	P2383S	possibly damaging	Het
Trpm1	A	T	7: 64,208,975 (GRCm38)	M382L	probably benign	Het
Trrap	A	G	5: 144,851,209 (GRCm38)	Y3516C	probably damaging	Het
Txnrd1	T	A	10: 82,885,233 (GRCm38)	Y494*	probably null	Het
Ubr2	C	T	17: 46,964,788 (GRCm38)	E811K	probably damaging	Het
Vmn2r117	A	G	17: 23,459,895 (GRCm38)	M785T	probably damaging	Het
Vmn2r99	G	A	17: 19,379,145 (GRCm38)	D364N	probably benign	Het
Vps45	C	A	3: 96,047,136 (GRCm38)		probably null	Het
Wdr25	A	C	12: 109,026,441 (GRCm38)	H426P	probably damaging	Het
Wdr83	A	T	8: 85,079,681 (GRCm38)	W136R	probably damaging	Het
Xylt1	A	C	7: 117,592,005 (GRCm38)	I343L	possibly damaging	Het
Znrd1as	A	G	17: 36,964,383 (GRCm38)	D16G	probably damaging	Het
Zscan4b	T	C	7: 10,904,058 (GRCm38)	Q53R	possibly damaging	Het

Other mutations in Ubxn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Ubxn4	APN	1	128,259,465 (GRCm38)	missense	possibly damaging	0.90
IGL02302:Ubxn4	APN	1	128,256,111 (GRCm38)	intron	probably benign
IGL03066:Ubxn4	APN	1	128,260,854 (GRCm38)	splice site	probably null
E0370:Ubxn4	UTSW	1	128,262,904 (GRCm38)	missense	probably benign	0.23
P4748:Ubxn4	UTSW	1	128,262,904 (GRCm38)	missense	probably benign	0.23
R0008:Ubxn4	UTSW	1	128,262,904 (GRCm38)	missense	probably benign	0.23
R0086:Ubxn4	UTSW	1	128,262,904 (GRCm38)	missense	probably benign	0.23
R0087:Ubxn4	UTSW	1	128,262,904 (GRCm38)	missense	probably benign	0.23
R0220:Ubxn4	UTSW	1	128,256,194 (GRCm38)	missense	possibly damaging	0.86
R0244:Ubxn4	UTSW	1	128,262,904 (GRCm38)	missense	probably benign	0.23
R0464:Ubxn4	UTSW	1	128,262,904 (GRCm38)	missense	probably benign	0.23
R0465:Ubxn4	UTSW	1	128,262,904 (GRCm38)	missense	probably benign	0.23
R0466:Ubxn4	UTSW	1	128,262,904 (GRCm38)	missense	probably benign	0.23
R0467:Ubxn4	UTSW	1	128,262,904 (GRCm38)	missense	probably benign	0.23
R0658:Ubxn4	UTSW	1	128,262,904 (GRCm38)	missense	probably benign	0.23
R1430:Ubxn4	UTSW	1	128,274,880 (GRCm38)	missense	probably benign	0.03
R1623:Ubxn4	UTSW	1	128,272,851 (GRCm38)	missense	possibly damaging	0.62
R1700:Ubxn4	UTSW	1	128,252,286 (GRCm38)	missense	possibly damaging	0.89
R1764:Ubxn4	UTSW	1	128,256,179 (GRCm38)	missense	probably damaging	1.00
R2128:Ubxn4	UTSW	1	128,244,510 (GRCm38)	missense	probably benign
R2472:Ubxn4	UTSW	1	128,272,869 (GRCm38)	missense	probably damaging	1.00
R4610:Ubxn4	UTSW	1	128,255,449 (GRCm38)	missense	probably benign	0.03
R4651:Ubxn4	UTSW	1	128,274,850 (GRCm38)	missense	probably benign	0.32
R4652:Ubxn4	UTSW	1	128,274,850 (GRCm38)	missense	probably benign	0.32
R4804:Ubxn4	UTSW	1	128,266,404 (GRCm38)	nonsense	probably null
R5735:Ubxn4	UTSW	1	128,258,940 (GRCm38)	missense	possibly damaging	0.83
R5826:Ubxn4	UTSW	1	128,266,321 (GRCm38)	missense	possibly damaging	0.80
R5840:Ubxn4	UTSW	1	128,259,525 (GRCm38)	missense	possibly damaging	0.92
R5883:Ubxn4	UTSW	1	128,256,130 (GRCm38)	missense	probably damaging	1.00
R6637:Ubxn4	UTSW	1	128,277,087 (GRCm38)	missense	probably damaging	1.00
R6827:Ubxn4	UTSW	1	128,276,977 (GRCm38)	missense	probably benign
R7092:Ubxn4	UTSW	1	128,252,222 (GRCm38)	missense	probably benign	0.29
R8049:Ubxn4	UTSW	1	128,256,196 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGCGTACTTTTCTTGCCAAG -3'
(R):5'- AGAAGCACCAAGTGGCACTG -3'

Sequencing Primer
(F):5'- TCTTGCCAAGCGCGCTC -3'
(R):5'- AAAAGCTGTACTGGCCCG -3'

Posted On

2019-10-07