Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01769:Ubxn8'

153819

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubxn8

Ensembl Gene

ENSMUSG00000052906

Gene Name

UBX domain protein 8

Synonyms

D0H8S2298E, Rep-8, Rep8h, Ubxd6

Accession Numbers

Essential gene?

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

Stock #

IGL01769

Quality Score

Status

Chromosome

Chromosomal Location

34109614-34131995 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 34119406 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

Validation Efficiency

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 130,959,215 (GRCm39)	M162L	probably benign	Het
Aldh1a1	A	T	19: 20,620,283 (GRCm39)	T487S	probably benign	Het
Bahcc1	T	C	11: 120,171,030 (GRCm39)		probably benign	Het
Cldn10	G	A	14: 119,111,129 (GRCm39)		probably benign	Het
Cntn3	G	A	6: 102,185,145 (GRCm39)	T657I	probably damaging	Het
Crb1	A	T	1: 139,264,806 (GRCm39)	I204K	probably damaging	Het
Crim1	C	A	17: 78,620,664 (GRCm39)	T368K	probably benign	Het
Csad	C	A	15: 102,088,516 (GRCm39)	V237L	probably benign	Het
Cyp39a1	T	G	17: 44,060,806 (GRCm39)	H451Q	possibly damaging	Het
Dclk2	T	C	3: 86,723,667 (GRCm39)	E376G	possibly damaging	Het
Dnah10	A	T	5: 124,842,008 (GRCm39)	Y1331F	possibly damaging	Het
Dnajc11	A	T	4: 152,063,759 (GRCm39)	I452L	probably damaging	Het
Dpf2	T	C	19: 5,962,810 (GRCm39)		probably benign	Het
Elovl2	A	C	13: 41,340,420 (GRCm39)	V225G	probably damaging	Het
Fancd2	T	A	6: 113,522,072 (GRCm39)	H222Q	possibly damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Flt4	C	T	11: 49,525,998 (GRCm39)		probably benign	Het
Foxp2	T	C	6: 15,409,834 (GRCm39)	V478A	possibly damaging	Het
H2-Q1	G	A	17: 35,542,505 (GRCm39)	V317M	probably benign	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Igkv3-5	G	A	6: 70,640,336 (GRCm39)		probably benign	Het
Isg20	G	A	7: 78,564,129 (GRCm39)	C12Y	probably damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Nat8f5	G	A	6: 85,794,859 (GRCm39)	R34C	probably benign	Het
Or8d2	T	C	9: 38,759,629 (GRCm39)	V73A	probably benign	Het
Pramel7	A	G	2: 87,319,932 (GRCm39)	S454P	probably benign	Het
Rarb	T	A	14: 16,443,760 (GRCm38)	E176V	probably damaging	Het
Sema4a	T	A	3: 88,357,063 (GRCm39)	I303F	possibly damaging	Het
Slc25a24	G	A	3: 109,056,816 (GRCm39)	E110K	probably damaging	Het
Slc7a13	A	T	4: 19,839,527 (GRCm39)	I377L	probably benign	Het
Smim19	T	C	8: 22,953,393 (GRCm39)		probably null	Het
Tiam2	A	G	17: 3,477,565 (GRCm39)	Y596C	probably damaging	Het
Tlr1	A	T	5: 65,083,290 (GRCm39)	L429*	probably null	Het
Vmn2r108	C	A	17: 20,691,280 (GRCm39)	M414I	probably benign	Het
Vmn2r99	A	G	17: 19,600,377 (GRCm39)	N467S	probably damaging	Het
Zfp456	T	A	13: 67,515,272 (GRCm39)	T145S	probably benign	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
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
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

2014-02-04