Mutagenetix > Incidental Mutation

Incidental Mutation 'R8834:Ubqln1'

674050

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

068662-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.758) question?

Stock #

R8834 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58323970-58363467 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58331058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 390 (S390T)

Ref Sequence

ENSEMBL: ENSMUSP00000050191 (fasta)

Gene Model

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

AlphaFold

Q8R317

Predicted Effect

probably damaging
Transcript: ENSMUST00000058735
AA Change: S390T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050191
Gene: ENSMUSG00000005312
AA Change: S390T

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

possibly damaging
Transcript: ENSMUST00000076454
AA Change: S390T

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075782
Gene: ENSMUSG00000005312
AA Change: S390T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (44/44)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,877,372 (GRCm39)	T1007A	probably benign	Het
Adcy6	A	G	15: 98,498,922 (GRCm39)	L293P	possibly damaging	Het
Cacna2d1	T	A	5: 16,471,735 (GRCm39)	V260E	possibly damaging	Het
Capn3	T	A	2: 120,294,534 (GRCm39)	F61I	probably damaging	Het
Cdh9	A	G	15: 16,850,964 (GRCm39)	S578G	probably damaging	Het
Cog4	A	G	8: 111,608,049 (GRCm39)	Y714C	probably damaging	Het
Dnah14	T	G	1: 181,444,315 (GRCm39)	F542V	possibly damaging	Het
Dock8	T	C	19: 25,140,834 (GRCm39)	V1350A	probably benign	Het
Eps8	A	G	6: 137,504,306 (GRCm39)		probably benign	Het
Fat3	C	T	9: 15,942,493 (GRCm39)	G1293E	probably damaging	Het
Fnip1	T	C	11: 54,395,581 (GRCm39)	V985A	possibly damaging	Het
Frem1	T	C	4: 82,922,610 (GRCm39)	D397G	probably damaging	Het
Gan	C	G	8: 117,885,031 (GRCm39)	P53R		Het
Gcc2	T	C	10: 58,121,867 (GRCm39)		probably null	Het
Glb1l2	C	T	9: 26,689,314 (GRCm39)		probably null	Het
Gm973	T	C	1: 59,563,820 (GRCm39)	F2L		Het
Heatr5a	A	G	12: 51,956,739 (GRCm39)		probably null	Het
Kifc2	T	A	15: 76,551,250 (GRCm39)	H681Q	probably damaging	Het
Krt16	T	A	11: 100,139,236 (GRCm39)	S161C	probably damaging	Het
Lrrc3b	A	G	14: 15,358,562 (GRCm38)	C15R	possibly damaging	Het
Lrrc66	C	G	5: 73,765,928 (GRCm39)	A372P	possibly damaging	Het
Ly75	C	T	2: 60,161,433 (GRCm39)	R884H	probably benign	Het
Map2k6	T	A	11: 110,383,419 (GRCm39)	C109*	probably null	Het
Mapk9	C	T	11: 49,774,010 (GRCm39)	S389L	probably damaging	Het
Mier2	C	T	10: 79,386,293 (GRCm39)	G57D	unknown	Het
Mis18bp1	A	T	12: 65,208,419 (GRCm39)	M98K	probably benign	Het
Mrtfa	A	G	15: 80,904,511 (GRCm39)	L196P	probably benign	Het
Or1e17	T	C	11: 73,831,164 (GRCm39)	F31L	possibly damaging	Het
Pcsk7	A	G	9: 45,830,589 (GRCm39)	S456G	possibly damaging	Het
Phf12	T	A	11: 77,897,608 (GRCm39)	C102S	probably damaging	Het
Ppm1k	A	G	6: 57,502,023 (GRCm39)	C47R	probably benign	Het
Rgs10	A	G	7: 127,990,809 (GRCm39)	I93T	probably damaging	Het
Ror2	CCCTCCTCCTCCTCCTC	CCCTCCTCCTCCTC	13: 53,264,338 (GRCm39)		probably benign	Het
Rusc2	T	A	4: 43,416,431 (GRCm39)	F579Y	possibly damaging	Het
Selplg	G	A	5: 113,957,691 (GRCm39)	S205L	possibly damaging	Het
Sh3gl3	T	C	7: 81,955,999 (GRCm39)	V109A	possibly damaging	Het
Tanc2	T	C	11: 105,807,845 (GRCm39)	S336P		Het
Tlr2	C	A	3: 83,746,020 (GRCm39)	R21L	probably benign	Het
Trpa1	C	T	1: 14,963,528 (GRCm39)	V565I	possibly damaging	Het
Ubr3	T	C	2: 69,833,785 (GRCm39)	V1514A	probably benign	Het
Uchl5	A	T	1: 143,661,968 (GRCm39)	K81*	probably null	Het
Unc13b	T	C	4: 43,175,954 (GRCm39)	F2261L	unknown	Het
Usp12	T	A	5: 146,691,327 (GRCm39)	E142D	probably benign	Het
V1ra8	A	T	6: 90,180,622 (GRCm39)	D275V	unknown	Het
Zfp804a	A	G	2: 82,089,441 (GRCm39)	H1090R	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
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
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
R9256:Ubqln1	UTSW	13	58,325,721 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGCAGTGTCCACATCTCTAGTG -3'
(R):5'- TGTGCCTTGGAGCCATAACC -3'

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

Posted On

2021-07-15