Mutagenetix > Incidental Mutation

Incidental Mutation 'R0098:Ubxn8'

17931

Institutional Source

Beutler Lab

Gene Symbol

Ubxn8

Ensembl Gene

ENSMUSG00000052906

Gene Name

UBX domain protein 8

Synonyms

D0H8S2298E, Rep-8, Rep8h, Ubxd6

MMRRC Submission

038384-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R0098 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

34109614-34131995 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 34125393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095349]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000095349

SMART Domains

Protein: ENSMUSP00000092992
Gene: ENSMUSG00000052906

Domain	Start	End	E-Value	Type
transmembrane domain	5	22	N/A	INTRINSIC
transmembrane domain	34	56	N/A	INTRINSIC
low complexity region	70	81	N/A	INTRINSIC
Pfam:UBX	192	271	3.8e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210807

Coding Region Coverage

1x: 90.4%
3x: 88.1%
10x: 82.9%
20x: 75.6%

Validation Efficiency

93% (78/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] p97 or VCP (valosin-containing protein) is a versatile ATPase complex, and many cofactors are required for the p97 functional diversity. This gene encodes one of the p97 cofactors. This cofactor is a transmembrane protein and localized in the endoplasmic reticulum (ER) membrane. It tethers p97 to the ER membrane via its UBX domain. The association of this cofactor with p97 facilitates efficient ER-associated degradation of misfolded proteins. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	T	17: 36,207,309 (GRCm39)		probably benign	Het
Acad9	T	C	3: 36,127,689 (GRCm39)	I97T	probably damaging	Het
Adam32	T	A	8: 25,404,405 (GRCm39)	Y200F	possibly damaging	Het
Adcy4	T	C	14: 56,007,284 (GRCm39)	N976S	possibly damaging	Het
Adgrb2	C	G	4: 129,901,624 (GRCm39)	P416R	probably damaging	Het
Alpk2	A	G	18: 65,482,982 (GRCm39)	L342S	probably damaging	Het
Ambra1	T	A	2: 91,598,056 (GRCm39)	H72Q	possibly damaging	Het
Ankrd10	T	C	8: 11,662,560 (GRCm39)	H391R	probably benign	Het
Arfgef3	A	G	10: 18,465,390 (GRCm39)	V2151A	probably damaging	Het
Atm	T	C	9: 53,429,869 (GRCm39)	D389G	probably benign	Het
Atp10b	A	T	11: 43,080,431 (GRCm39)	S236C	probably benign	Het
B3gat1	C	T	9: 26,668,237 (GRCm39)	R276C	probably damaging	Het
Bcl9l	C	T	9: 44,416,914 (GRCm39)	P251S	probably benign	Het
Cdhr5	C	A	7: 140,849,781 (GRCm39)	G331W	probably damaging	Het
Cmklr1	T	C	5: 113,752,531 (GRCm39)	T157A	probably benign	Het
Cndp1	T	A	18: 84,646,949 (GRCm39)	E246D	probably damaging	Het
Cntn4	A	G	6: 106,595,385 (GRCm39)		probably benign	Het
Crebbp	A	G	16: 3,909,792 (GRCm39)	L1078P	probably damaging	Het
Cyp20a1	G	T	1: 60,426,413 (GRCm39)	E452*	probably null	Het
Emb	T	C	13: 117,404,034 (GRCm39)	V262A	probably damaging	Het
Ephb1	C	T	9: 101,918,339 (GRCm39)	R390H	probably damaging	Het
Faf1	T	C	4: 109,792,696 (GRCm39)	L556S	probably damaging	Het
Fat2	T	C	11: 55,189,431 (GRCm39)	T1196A	probably damaging	Het
Fbf1	A	T	11: 116,038,945 (GRCm39)		probably null	Het
Gid8	T	A	2: 180,356,528 (GRCm39)	I55N	possibly damaging	Het
Hexa	T	C	9: 59,465,383 (GRCm39)	Y213H	probably damaging	Het
Igf2bp1	T	C	11: 95,863,989 (GRCm39)	K234E	probably damaging	Het
Ighv1-58	C	T	12: 115,275,919 (GRCm39)	G73E	probably benign	Het
Kalrn	A	T	16: 33,795,989 (GRCm39)	I1262K	possibly damaging	Het
Lrp1	C	T	10: 127,388,607 (GRCm39)	V3281I	probably benign	Het
Lrp2	T	C	2: 69,305,756 (GRCm39)	D2935G	probably damaging	Het
Lypd6	T	A	2: 50,080,792 (GRCm39)	V160E	probably benign	Het
Muc19	C	T	15: 91,777,101 (GRCm39)		noncoding transcript	Het
Nrxn3	A	G	12: 89,226,971 (GRCm39)	D202G	probably damaging	Het
Nxn	A	T	11: 76,169,420 (GRCm39)		probably benign	Het
Or5b107	T	A	19: 13,143,026 (GRCm39)	I216K	probably benign	Het
Palld	C	A	8: 61,978,120 (GRCm39)	G890V	probably damaging	Het
Pcx	C	A	19: 4,651,775 (GRCm39)		probably benign	Het
Pik3c2g	T	C	6: 139,639,441 (GRCm39)	S416P	unknown	Het
Ppa2	C	T	3: 133,076,234 (GRCm39)		probably benign	Het
Ppp1r18	A	G	17: 36,178,888 (GRCm39)	I254M	probably benign	Het
Prune2	A	G	19: 17,101,267 (GRCm39)	E2257G	possibly damaging	Het
Rd3	A	G	1: 191,717,261 (GRCm39)	M244V	probably benign	Het
Rfx5	T	A	3: 94,865,679 (GRCm39)	V326E	probably damaging	Het
Rgs3	G	C	4: 62,544,143 (GRCm39)	R305P	probably damaging	Het
Rpp40	A	G	13: 36,082,970 (GRCm39)	Y173H	probably benign	Het
Ryr3	T	C	2: 112,731,376 (GRCm39)	N645D	probably damaging	Het
Sema3e	T	C	5: 14,302,446 (GRCm39)	V657A	possibly damaging	Het
Serpina3n	T	A	12: 104,379,777 (GRCm39)	V390E	probably damaging	Het
Shank1	A	G	7: 43,962,709 (GRCm39)	Y141C	unknown	Het
Smg1	A	T	7: 117,744,690 (GRCm39)	M3154K	probably benign	Het
Tdrd12	A	G	7: 35,175,418 (GRCm39)	L996P	probably damaging	Het
Tfrc	G	T	16: 32,442,244 (GRCm39)	V490F	probably damaging	Het
Tie1	T	C	4: 118,343,784 (GRCm39)	S53G	probably benign	Het
Topaz1	T	C	9: 122,619,188 (GRCm39)	Y1262H	possibly damaging	Het
Ttc3	A	T	16: 94,191,124 (GRCm39)	H222L	probably benign	Het
Unk	A	G	11: 115,940,995 (GRCm39)	Y252C	probably damaging	Het
Vwc2l	A	G	1: 70,768,290 (GRCm39)	Y71C	probably damaging	Het
Zfp386	T	A	12: 116,022,834 (GRCm39)	L184*	probably null	Het

Other mutations in Ubxn8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Ubxn8	APN	8	34,125,333 (GRCm39)	missense	probably benign	0.12
IGL01588:Ubxn8	APN	8	34,111,587 (GRCm39)	missense	probably damaging	1.00
IGL01769:Ubxn8	APN	8	34,119,406 (GRCm39)	splice site	probably benign
IGL02074:Ubxn8	APN	8	34,113,206 (GRCm39)	missense	possibly damaging	0.77
PIT4468001:Ubxn8	UTSW	8	34,111,569 (GRCm39)	missense	probably benign	0.10
R0098:Ubxn8	UTSW	8	34,125,393 (GRCm39)	splice site	probably benign
R1167:Ubxn8	UTSW	8	34,131,929 (GRCm39)	missense	probably damaging	0.97
R5203:Ubxn8	UTSW	8	34,123,639 (GRCm39)	missense	probably damaging	0.98
R5299:Ubxn8	UTSW	8	34,131,947 (GRCm39)	missense	possibly damaging	0.66
R6694:Ubxn8	UTSW	8	34,111,572 (GRCm39)	missense	possibly damaging	0.59
R7266:Ubxn8	UTSW	8	34,113,231 (GRCm39)	missense	probably damaging	0.99
R7526:Ubxn8	UTSW	8	34,123,635 (GRCm39)	missense	probably benign	0.20
R7938:Ubxn8	UTSW	8	34,111,712 (GRCm39)	missense	probably damaging	1.00
R8018:Ubxn8	UTSW	8	34,113,243 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-03-25