Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00230:Ubqln1'

306808

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubqln1

Ensembl Gene

ENSMUSG00000005312

Gene Name

ubiquilin 1

Synonyms

XDRP1, Plic-1, Dsk2, DA41, D13Ertd372e, 1110046H03Rik, 1810030E05Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.636) question?

Stock #

IGL00230

Quality Score

Status

Chromosome

Chromosomal Location

58176156-58215653 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 58177992 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 152 (E152*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058735] [ENSMUST00000076454]

Predicted Effect

probably null
Transcript: ENSMUST00000058735
AA Change: E545*

SMART Domains

Protein: ENSMUSP00000050191
Gene: ENSMUSG00000005312
AA Change: E545*

Domain	Start	End	E-Value	Type
UBQ	28	98	7.78e-16	SMART
low complexity region	136	154	N/A	INTRINSIC
STI1	173	201	6e0	SMART
STI1	203	242	6.75e-10	SMART
low complexity region	316	356	N/A	INTRINSIC
STI1	381	428	2.62e-7	SMART
STI1	432	464	3.1e0	SMART
low complexity region	483	499	N/A	INTRINSIC
UBA	540	578	1.77e-6	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000076454
AA Change: E517*

SMART Domains

Protein: ENSMUSP00000075782
Gene: ENSMUSG00000005312
AA Change: E517*

Domain	Start	End	E-Value	Type
UBQ	28	98	7.78e-16	SMART
low complexity region	136	154	N/A	INTRINSIC
STI1	173	201	6e0	SMART
STI1	203	242	6.75e-10	SMART
low complexity region	316	356	N/A	INTRINSIC
STI1	381	420	2.24e-6	SMART
low complexity region	455	471	N/A	INTRINSIC
UBA	512	550	1.77e-6	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000225645
AA Change: E152*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225818

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null animals display impaired degradation of ubiquitinated proteins in the brain, increased ischemia/reperfusion-caused brain injury, and slower functional recovery after injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bin1	C	T	18: 32,420,107	A215V	probably damaging	Het
Cyp2j6	C	T	4: 96,536,046	R158H	possibly damaging	Het
Dnaaf2	T	C	12: 69,196,766	D507G	probably benign	Het
Fam13b	T	C	18: 34,487,096	E245G	possibly damaging	Het
Gal3st1	A	T	11: 3,999,070		probably benign	Het
Galnt5	A	T	2: 57,998,973	Q195L	probably benign	Het
Gfm2	A	G	13: 97,155,442	T229A	probably benign	Het
Gigyf1	A	G	5: 137,522,745		probably benign	Het
Gm4353	G	T	7: 116,083,554	T264K	probably damaging	Het
Gsk3b	A	T	16: 38,228,707	I389F	probably benign	Het
Hist1h2bm	G	T	13: 21,722,375	R93L	possibly damaging	Het
Htt	A	G	5: 34,799,408	T194A	probably benign	Het
Ighg3	T	C	12: 113,359,837	Y273C	unknown	Het
Kdm5b	T	A	1: 134,620,955	V1066D	probably damaging	Het
Kif1a	G	T	1: 93,054,934	A707E	probably damaging	Het
Maats1	A	G	16: 38,336,342		probably null	Het
Mars	A	G	10: 127,298,006	M674T	probably benign	Het
Mas1	T	C	17: 12,841,990	D182G	probably benign	Het
Metap1d	T	A	2: 71,512,162	D178E	probably damaging	Het
Nhsl1	T	A	10: 18,527,609	D1329E	probably benign	Het
Ninl	T	C	2: 150,966,241	E289G	probably damaging	Het
Pmel	G	T	10: 128,716,089	G264V	possibly damaging	Het
Ruvbl1	T	C	6: 88,484,403		probably benign	Het
Scn8a	T	A	15: 100,955,532		probably benign	Het
Sept9	T	C	11: 117,354,804		probably benign	Het
Sgpp1	G	T	12: 75,716,194	Y404*	probably null	Het
Sgsm1	T	C	5: 113,245,064	I788V	probably benign	Het
Slc13a4	A	T	6: 35,289,824	M112K	probably benign	Het
Slc22a29	T	C	19: 8,217,813	M153V	probably benign	Het
Slc9c1	T	G	16: 45,573,389	V565G	possibly damaging	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Tec	C	T	5: 72,768,768	A314T	probably damaging	Het
Tg	A	G	15: 66,827,290	I803V	probably benign	Het
Trav9-1	A	T	14: 53,488,393	I55F	probably benign	Het
Ttll12	C	A	15: 83,578,656	E536D	probably benign	Het
Wwtr1	G	A	3: 57,463,491	T338I	probably benign	Het
Zdhhc16	T	C	19: 41,939,660	F206S	probably benign	Het

Other mutations in Ubqln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01566:Ubqln1	APN	13	58179667	splice site	probably null
IGL02160:Ubqln1	APN	13	58192137	missense	probably damaging	1.00
IGL03171:Ubqln1	APN	13	58180858	missense	probably damaging	1.00
R0140:Ubqln1	UTSW	13	58193289	missense	probably damaging	1.00
R1676:Ubqln1	UTSW	13	58179391	missense	possibly damaging	0.67
R1712:Ubqln1	UTSW	13	58192081	missense	probably damaging	1.00
R4400:Ubqln1	UTSW	13	58193388	missense	probably damaging	1.00
R5194:Ubqln1	UTSW	13	58199033	missense	probably benign
R5419:Ubqln1	UTSW	13	58183183	missense	probably damaging	0.99
R5778:Ubqln1	UTSW	13	58183317	missense	probably benign	0.00
R6198:Ubqln1	UTSW	13	58196590	missense	probably benign
R7829:Ubqln1	UTSW	13	58177905	missense	probably damaging	1.00
R8479:Ubqln1	UTSW	13	58191839	missense	probably benign
R8523:Ubqln1	UTSW	13	58191755	missense	probably benign	0.00

Posted On

2015-04-16