Mutagenetix > Incidental Mutation

Incidental Mutation 'R5419:Ubqln1'

501044

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

042987-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.719) question?

Stock #

R5419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58323970-58363467 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58330997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 410 (Q410R)

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: Q410R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000050191
Gene: ENSMUSG00000005312
AA Change: Q410R

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: Q410R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075782
Gene: ENSMUSG00000005312
AA Change: Q410R

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

Predicted Effect

unknown
Transcript: ENSMUST00000225645
AA Change: Q47R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225818

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,220,624 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,143,533 (GRCm39)		probably null	Het
Akap13	A	T	7: 75,259,991 (GRCm39)	T69S	probably benign	Het
Arl1	T	A	10: 88,572,966 (GRCm39)	C80S	probably damaging	Het
Bltp2	T	A	11: 78,162,916 (GRCm39)	L926*	probably null	Het
Brsk1	A	G	7: 4,712,003 (GRCm39)	T618A	possibly damaging	Het
Cep295	T	C	9: 15,235,533 (GRCm39)	H1982R	probably damaging	Het
Ces5a	A	T	8: 94,226,059 (GRCm39)	S559T	unknown	Het
Clcf1	A	G	19: 4,272,213 (GRCm39)	N90S	possibly damaging	Het
Clec16a	G	A	16: 10,549,543 (GRCm39)	C872Y	probably damaging	Het
Cobll1	A	T	2: 64,933,701 (GRCm39)	D430E	possibly damaging	Het
Cyp1a2	T	A	9: 57,589,794 (GRCm39)	I7F	probably benign	Het
Cyp2b23	G	A	7: 26,380,848 (GRCm39)	R126*	probably null	Het
Daam2	A	G	17: 49,787,782 (GRCm39)	W444R	possibly damaging	Het
Dcbld2	T	A	16: 58,275,621 (GRCm39)	C446S	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Eif2d	T	C	1: 131,086,035 (GRCm39)	*177R	probably null	Het
Fkbp15	G	A	4: 62,246,114 (GRCm39)	A438V	probably damaging	Het
Gjb5	G	A	4: 127,249,652 (GRCm39)	A164V	probably benign	Het
Grin1	A	T	2: 25,188,285 (GRCm39)		probably null	Het
Grm3	A	G	5: 9,620,233 (GRCm39)	F337S	probably damaging	Het
Hey2	T	A	10: 30,710,019 (GRCm39)	T245S	probably benign	Het
Ifi206	T	C	1: 173,308,797 (GRCm39)	T400A	probably benign	Het
Itga7	G	A	10: 128,779,902 (GRCm39)	E480K	probably null	Het
Itpr1	T	C	6: 108,470,755 (GRCm39)	Y2227H	possibly damaging	Het
Krt8	T	C	15: 101,912,337 (GRCm39)	D113G	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lins1	A	G	7: 66,357,843 (GRCm39)		probably benign	Het
Lmf1	A	T	17: 25,881,610 (GRCm39)	D553V	possibly damaging	Het
Lnpep	A	G	17: 17,786,992 (GRCm39)	S536P	probably damaging	Het
Lrp1b	A	T	2: 40,620,716 (GRCm39)	C3587*	probably null	Het
Macf1	A	T	4: 123,290,917 (GRCm39)	D3435E	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897 (GRCm39)	I251V	possibly damaging	Het
Myg1	A	T	15: 102,245,397 (GRCm39)	N206I	probably damaging	Het
Myl12a	T	G	17: 71,301,694 (GRCm39)	R144S	probably benign	Het
Myo5a	T	A	9: 75,055,179 (GRCm39)	I454K	probably damaging	Het
Nwd2	A	G	5: 63,965,051 (GRCm39)	D1545G	probably benign	Het
Ogdhl	T	G	14: 32,061,181 (GRCm39)	D457E	probably damaging	Het
Or5ac20	T	A	16: 59,104,704 (GRCm39)	D52V	probably damaging	Het
Or9s18	A	C	13: 65,300,588 (GRCm39)	L183F	probably damaging	Het
Paf1	A	G	7: 28,095,095 (GRCm39)	I112V	possibly damaging	Het
Pate7	T	A	9: 35,689,407 (GRCm39)		probably null	Het
Pcdhga4	C	T	18: 37,819,798 (GRCm39)	P449L	probably damaging	Het
Pla2g6	A	T	15: 79,183,342 (GRCm39)	I495N	possibly damaging	Het
Ptgs1	A	G	2: 36,127,234 (GRCm39)	Y40C	probably damaging	Het
Ptprn2	A	T	12: 117,148,267 (GRCm39)	I676F	probably damaging	Het
Rev3l	T	C	10: 39,700,927 (GRCm39)	L1808P	possibly damaging	Het
Sall2	A	G	14: 52,550,586 (GRCm39)	S868P	probably damaging	Het
Shoc1	A	T	4: 59,049,017 (GRCm39)	M1116K	probably benign	Het
Slc47a2	A	G	11: 61,198,412 (GRCm39)	F428L	probably benign	Het
Slco1a7	C	T	6: 141,681,826 (GRCm39)		probably null	Het
Slco3a1	A	T	7: 73,934,363 (GRCm39)	F603Y	possibly damaging	Het
Smyd2	A	T	1: 189,642,090 (GRCm39)	C65*	probably null	Het
Ssu72	T	C	4: 155,800,007 (GRCm39)	F57L	probably damaging	Het
Tanc2	A	G	11: 105,813,709 (GRCm39)	T1718A	probably benign	Het
Tnks	G	C	8: 35,432,720 (GRCm39)	P34A	unknown	Het
Top3a	G	A	11: 60,653,348 (GRCm39)	T42I	probably damaging	Het
Trank1	T	C	9: 111,220,369 (GRCm39)	S2369P	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn2r11	A	G	5: 109,207,224 (GRCm39)	I32T	possibly damaging	Het
Xcr1	A	G	9: 123,685,375 (GRCm39)	F129S	probably benign	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
R0140:Ubqln1	UTSW	13	58,341,103 (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
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'- AGTGATCAGAGCAGGTTCCC -3'
(R):5'- TGTGCCTTGGAGCCATAACC -3'

Sequencing Primer
(F):5'- GCAGGTTCCCTAAAAATGCCTGG -3'
(R):5'- GAGCTTAGTAACTAGTACTGGTTAGC -3'

Posted On

2017-12-01