Mutagenetix > Incidental Mutation

Incidental Mutation 'R0140:Ubqln1'

22278

Institutional Source

Beutler Lab

Gene Symbol

Ubqln1

Ensembl Gene

ENSMUSG00000005312

Gene Name

ubiquilin 1

Synonyms

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

MMRRC Submission

038425-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.719) question?

Stock #

R0140 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

58323970-58363467 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58341103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 216 (I216T)

Ref Sequence

ENSEMBL: ENSMUSP00000075782 (fasta)

Gene Model

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

AlphaFold

Q8R317

Predicted Effect

probably damaging
Transcript: ENSMUST00000058735
AA Change: I216T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050191
Gene: ENSMUSG00000005312
AA Change: I216T

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 damaging
Transcript: ENSMUST00000076454
AA Change: I216T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075782
Gene: ENSMUSG00000005312
AA Change: I216T

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

noncoding transcript
Transcript: ENSMUST00000224851

Meta Mutation Damage Score

0.5808

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

98% (79/81)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
9330161L09Rik	T	C	12: 103,373,587 (GRCm39)		probably benign	Het
Abca2	T	G	2: 25,328,097 (GRCm39)		probably null	Het
Adgrf3	T	C	5: 30,401,379 (GRCm39)	K13R	probably benign	Het
Arhgap15	C	A	2: 44,212,779 (GRCm39)	F416L	probably damaging	Het
Arhgef26	C	G	3: 62,355,666 (GRCm39)	T746R	probably benign	Het
Aspm	C	T	1: 139,408,379 (GRCm39)	T2422I	probably benign	Het
Atp4a	C	G	7: 30,419,526 (GRCm39)	R659G	probably benign	Het
AY358078	T	A	14: 52,063,399 (GRCm39)	D348E	probably benign	Het
Blnk	A	T	19: 40,928,668 (GRCm39)	S285T	probably damaging	Het
Calr3	C	T	8: 73,188,732 (GRCm39)		probably benign	Het
Camsap2	A	T	1: 136,208,120 (GRCm39)	V1124D	probably benign	Het
Ccdc40	G	A	11: 119,155,125 (GRCm39)	G1122S	probably benign	Het
Ccdc69	C	A	11: 54,941,325 (GRCm39)	C196F	possibly damaging	Het
Cdhr3	T	G	12: 33,130,412 (GRCm39)	N141T	probably benign	Het
Cdk4	T	C	10: 126,900,214 (GRCm39)	V37A	probably damaging	Het
Celsr2	C	T	3: 108,305,249 (GRCm39)	R2110K	probably benign	Het
Clcn7	A	G	17: 25,372,728 (GRCm39)	Y437C	probably damaging	Het
Col6a6	A	G	9: 105,579,474 (GRCm39)	F1917S	probably damaging	Het
Cps1	T	G	1: 67,219,275 (GRCm39)	S872A	probably benign	Het
Crebbp	G	T	16: 3,935,363 (GRCm39)	T842N	probably damaging	Het
Dennd2d	G	A	3: 106,399,799 (GRCm39)	V234I	probably benign	Het
Fam227b	T	C	2: 125,966,523 (GRCm39)	M130V	possibly damaging	Het
Fbxw24	G	T	9: 109,434,482 (GRCm39)	L373I	possibly damaging	Het
Fubp3	T	C	2: 31,498,196 (GRCm39)	Y359H	probably damaging	Het
Gm19684	T	C	17: 36,438,319 (GRCm39)		probably benign	Het
Hrnr	C	T	3: 93,238,800 (GRCm39)	Q3013*	probably null	Het
Il12rb1	T	C	8: 71,272,415 (GRCm39)		probably benign	Het
Lepr	A	T	4: 101,625,264 (GRCm39)	D473V	probably damaging	Het
Myof	A	T	19: 37,940,004 (GRCm39)	Y820*	probably null	Het
Nfil3	G	A	13: 53,121,681 (GRCm39)	Q408*	probably null	Het
Nolc1	G	A	19: 46,069,817 (GRCm39)		probably benign	Het
Npbwr1	A	C	1: 5,986,840 (GRCm39)	Y225D	probably damaging	Het
Nrip3	T	C	7: 109,361,022 (GRCm39)		probably benign	Het
Ntrk1	A	C	3: 87,685,875 (GRCm39)	L749R	probably damaging	Het
Or10ag53	A	G	2: 87,082,969 (GRCm39)	I229M	probably damaging	Het
Or2b11	A	G	11: 59,461,804 (GRCm39)	L254P	probably damaging	Het
Or4c126	T	A	2: 89,824,463 (GRCm39)	V242D	probably damaging	Het
Or52a24	A	G	7: 103,381,349 (GRCm39)	D72G	probably damaging	Het
Or6c211	G	T	10: 129,505,557 (GRCm39)	T277N	probably damaging	Het
Paox	A	T	7: 139,713,971 (GRCm39)	T244S	probably damaging	Het
Pcdhb9	T	A	18: 37,536,014 (GRCm39)	D669E	possibly damaging	Het
Pggt1b	A	G	18: 46,391,150 (GRCm39)		probably null	Het
Phkg1	T	A	5: 129,893,449 (GRCm39)	I334F	probably benign	Het
Phtf1	A	T	3: 103,894,876 (GRCm39)	R208W	probably null	Het
Pnliprp2	A	T	19: 58,754,795 (GRCm39)	I280F	probably benign	Het
Pnma8a	A	G	7: 16,694,147 (GRCm39)	M1V	probably null	Het
Prcp	A	G	7: 92,577,819 (GRCm39)	T328A	probably damaging	Het
Pxdn	A	G	12: 30,032,753 (GRCm39)	E179G	probably benign	Het
Racgap1	A	T	15: 99,521,532 (GRCm39)	N541K	probably benign	Het
Rnf103	T	A	6: 71,486,315 (GRCm39)	F315L	possibly damaging	Het
Septin2	A	G	1: 93,429,361 (GRCm39)	R237G	probably damaging	Het
Setd6	T	A	8: 96,442,737 (GRCm39)	L58Q	probably damaging	Het
Sipa1l1	G	A	12: 82,442,974 (GRCm39)	V755I	probably damaging	Het
Slc16a12	G	T	19: 34,650,104 (GRCm39)		probably benign	Het
Slk	G	A	19: 47,610,774 (GRCm39)	D815N	probably damaging	Het
Stx1a	T	C	5: 135,074,439 (GRCm39)		probably benign	Het
Tbc1d15	T	A	10: 115,056,124 (GRCm39)	I283F	probably damaging	Het
Tenm4	T	C	7: 96,545,259 (GRCm39)	I2425T	possibly damaging	Het
Tle1	G	A	4: 72,038,422 (GRCm39)	H702Y	probably damaging	Het
Tmc6	A	G	11: 117,657,077 (GRCm39)		probably benign	Het
Tmem268	G	A	4: 63,496,096 (GRCm39)	R179H	possibly damaging	Het
Tmem9	A	G	1: 135,961,900 (GRCm39)	K165R	probably damaging	Het
Trpm6	A	G	19: 18,796,558 (GRCm39)		probably null	Het
Tufm	C	T	7: 126,089,003 (GRCm39)	P88S	probably damaging	Het
Urad	T	G	5: 147,259,141 (GRCm39)	M1L	probably benign	Het
Utp6	A	G	11: 79,847,551 (GRCm39)		probably benign	Het
Vav2	C	T	2: 27,163,688 (GRCm39)		probably benign	Het
Vmn2r55	G	T	7: 12,402,104 (GRCm39)	Q395K	possibly damaging	Het
Wwox	T	G	8: 115,433,027 (GRCm39)	V231G	probably damaging	Het
Zfp646	T	A	7: 127,482,678 (GRCm39)	N1618K	probably benign	Het
Zzef1	G	A	11: 72,790,377 (GRCm39)	M2110I	possibly damaging	Het

Other mutations in Ubqln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Ubqln1	APN	13	58,325,806 (GRCm39)	nonsense	probably null
IGL01566:Ubqln1	APN	13	58,327,481 (GRCm39)	splice site	probably null
IGL02160:Ubqln1	APN	13	58,339,951 (GRCm39)	missense	probably damaging	1.00
IGL03171:Ubqln1	APN	13	58,328,672 (GRCm39)	missense	probably damaging	1.00
R1676:Ubqln1	UTSW	13	58,327,205 (GRCm39)	missense	possibly damaging	0.67
R1712:Ubqln1	UTSW	13	58,339,895 (GRCm39)	missense	probably damaging	1.00
R4400:Ubqln1	UTSW	13	58,341,202 (GRCm39)	missense	probably damaging	1.00
R5194:Ubqln1	UTSW	13	58,346,847 (GRCm39)	missense	probably benign
R5419:Ubqln1	UTSW	13	58,330,997 (GRCm39)	missense	probably damaging	0.99
R5778:Ubqln1	UTSW	13	58,331,131 (GRCm39)	missense	probably benign	0.00
R6198:Ubqln1	UTSW	13	58,344,404 (GRCm39)	missense	probably benign
R7829:Ubqln1	UTSW	13	58,325,719 (GRCm39)	missense	probably damaging	1.00
R8479:Ubqln1	UTSW	13	58,339,653 (GRCm39)	missense	probably benign
R8523:Ubqln1	UTSW	13	58,339,569 (GRCm39)	missense	probably benign	0.00
R8834:Ubqln1	UTSW	13	58,331,058 (GRCm39)	missense	probably damaging	1.00
R9256:Ubqln1	UTSW	13	58,325,721 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAAGGTGCTGACATCACCTCTC -3'
(R):5'- AGCGGCAACTTTTGTCTAACCCTG -3'

Sequencing Primer
(F):5'- AAAGCCTGTCTCTAAGGAGAGTTTG -3'
(R):5'- GTCTAACCCTGAAATGATGGTCC -3'

Posted On

2013-04-16