Mutagenetix > Incidental Mutation

Incidental Mutation 'R7357:Usp18'

571024

Institutional Source

Beutler Lab

Gene Symbol

Usp18

Ensembl Gene

ENSMUSG00000030107

Gene Name

ubiquitin specific peptidase 18

Synonyms

UBP43, 1110058H21Rik

MMRRC Submission

045443-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.664) question?

Stock #

R7357 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121222865-121247876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121230808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 79 (I79T)

Ref Sequence

ENSEMBL: ENSMUSP00000032198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032198]

AlphaFold

Q9WTV6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032198
AA Change: I79T

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032198
Gene: ENSMUSG00000030107
AA Change: I79T

Domain	Start	End	E-Value	Type
Pfam:UCH	51	363	3.1e-41	PFAM
Pfam:UCH_1	52	335	6.5e-24	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

97% (64/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein efficiently cleaves only ISG15 (a ubiquitin-like protein) fusions, and deletion of this gene in mice results in a massive increase of ISG15 conjugates in tissues, indicating that this protein is a major ISG15-specific protease. Mice lacking this gene are also hypersensitive to interferon, suggesting a function of this protein in downregulating interferon responses, independent of its isopeptidase activity towards ISG15. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mutants die prematurely with cellular necrosis in the ependyma, breakdown of blood-brain barrier, hydrocephaly with enlarged ventricles, and severe neurological abnormalities. Mice homozygous for an ENU-induced allele exhibit increased susceptibility to Salmonella infection and LPS. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	T	2: 155,845,787 (GRCm39)	H23Q	unknown	Het
9530068E07Rik	A	T	11: 52,297,821 (GRCm39)	K233I	probably damaging	Het
Aldh1l2	T	C	10: 83,350,408 (GRCm39)	M320V	possibly damaging	Het
C2cd3	A	G	7: 100,079,310 (GRCm39)	N838S		Het
Cacna1s	T	C	1: 135,998,759 (GRCm39)	F218S	probably damaging	Het
Carmil3	G	T	14: 55,728,590 (GRCm39)		probably benign	Het
Cd300a	A	T	11: 114,784,153 (GRCm39)	T54S	probably benign	Het
Celf3	G	A	3: 94,387,637 (GRCm39)	E70K	probably damaging	Het
Celsr1	A	C	15: 85,914,715 (GRCm39)	M1086R	probably benign	Het
Ces2f	G	A	8: 105,676,595 (GRCm39)	M96I	probably benign	Het
Chrdl2	G	A	7: 99,678,414 (GRCm39)	V329I	probably benign	Het
Ctc1	T	A	11: 68,925,568 (GRCm39)	L1035Q	probably benign	Het
Dbi	A	G	1: 120,047,623 (GRCm39)		probably null	Het
Dock3	A	G	9: 106,882,568 (GRCm39)	I405T	probably benign	Het
Dpp4	A	T	2: 62,217,421 (GRCm39)	W59R	probably benign	Het
Dsg3	T	A	18: 20,672,840 (GRCm39)	I837N	probably damaging	Het
Fbxw15	A	G	9: 109,387,308 (GRCm39)	V229A	probably benign	Het
Fermt3	T	C	19: 6,980,211 (GRCm39)	T395A	probably benign	Het
Focad	A	T	4: 88,147,572 (GRCm39)	I404F	probably benign	Het
Gm8104	T	C	14: 42,959,068 (GRCm39)	I86T	probably damaging	Het
Gm9857	A	C	3: 108,847,478 (GRCm39)	L95R	unknown	Het
Hoxa1	A	T	6: 52,133,929 (GRCm39)	S266T	probably benign	Het
Kif19b	A	G	5: 140,480,806 (GRCm39)	R979G	possibly damaging	Het
Leng8	T	A	7: 4,147,932 (GRCm39)	Y625*	probably null	Het
Mast3	A	G	8: 71,237,503 (GRCm39)	V557A	probably damaging	Het
Morc1	T	C	16: 48,442,953 (GRCm39)	F813L	probably benign	Het
Ntf3	T	A	6: 126,078,961 (GRCm39)	I182F	probably damaging	Het
Nup153	G	T	13: 46,870,642 (GRCm39)	A91E	probably benign	Het
Or13l2	G	C	3: 97,317,971 (GRCm39)	N175K	probably damaging	Het
Or52h1	A	T	7: 103,828,978 (GRCm39)	D212E	probably damaging	Het
Pamr1	G	A	2: 102,417,049 (GRCm39)	W120*	probably null	Het
Pcsk1	A	G	13: 75,274,079 (GRCm39)	N436S	probably damaging	Het
Pde4dip	T	C	3: 97,622,857 (GRCm39)	K1451E	probably benign	Het
Pebp4	G	A	14: 70,285,864 (GRCm39)	V176I	possibly damaging	Het
Phgdh	G	A	3: 98,247,138 (GRCm39)	A4V	probably benign	Het
Pik3c2g	T	C	6: 139,610,791 (GRCm39)		probably null	Het
Ppic	T	C	18: 53,544,139 (GRCm39)	Y82C	probably damaging	Het
Ppip5k2	A	G	1: 97,686,941 (GRCm39)	V94A	possibly damaging	Het
Ppp1r9b	T	C	11: 94,895,424 (GRCm39)	V704A	probably benign	Het
Pramel6	G	T	2: 87,340,856 (GRCm39)	R396L	not run	Het
Prss48	A	T	3: 85,904,528 (GRCm39)	D223E	probably damaging	Het
Psd3	T	C	8: 68,574,149 (GRCm39)	K11E	probably benign	Het
Rabgap1l	T	C	1: 160,169,608 (GRCm39)	K780E	probably damaging	Het
Retreg1	A	T	15: 25,972,029 (GRCm39)	D323V	probably damaging	Het
Samd11	A	T	4: 156,340,067 (GRCm39)		probably null	Het
Sec14l3	T	A	11: 4,020,127 (GRCm39)	F188Y	probably benign	Het
Serpina5	A	T	12: 104,069,639 (GRCm39)	T284S	possibly damaging	Het
Setx	A	G	2: 29,020,313 (GRCm39)	D100G	probably benign	Het
Sis	A	T	3: 72,832,404 (GRCm39)	V1035D	probably damaging	Het
Slco4a1	A	G	2: 180,113,930 (GRCm39)	I456V	probably benign	Het
Snx14	A	T	9: 88,286,369 (GRCm39)	C393S	possibly damaging	Het
Stil	T	C	4: 114,871,423 (GRCm39)		probably null	Het
Sult6b1	A	G	17: 79,202,059 (GRCm39)	S148P	probably damaging	Het
Sycp2	G	T	2: 178,045,597 (GRCm39)		probably null	Het
Tesmin	T	C	19: 3,447,042 (GRCm39)	I273T	probably benign	Het
Tmem39a	T	A	16: 38,406,592 (GRCm39)	Y310N	probably damaging	Het
Trp53bp1	A	T	2: 121,041,781 (GRCm39)	D1258E	probably damaging	Het
Ttc12	A	C	9: 49,349,687 (GRCm39)	D703E	probably benign	Het
Unc13c	TATAA	TATAATAA	9: 73,840,810 (GRCm39)		probably benign	Het
Unc13c	ATA	ATAGTA	9: 73,840,811 (GRCm39)		probably benign	Het
Usp9y	A	T	Y: 1,333,656 (GRCm39)	D1596E	possibly damaging	Het
Vmn2r109	A	T	17: 20,761,536 (GRCm39)	V607E	probably damaging	Het
Vwa8	G	A	14: 79,275,641 (GRCm39)	R808K	probably null	Het
Zfp248	A	G	6: 118,406,618 (GRCm39)	Y324H	probably damaging	Het
Zfp513	G	A	5: 31,357,132 (GRCm39)	P387S	possibly damaging	Het

Other mutations in Usp18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Usp18	APN	6	121,232,341 (GRCm39)	nonsense	probably null
IGL01403:Usp18	APN	6	121,245,627 (GRCm39)	missense	possibly damaging	0.67
IGL01411:Usp18	APN	6	121,238,380 (GRCm39)	missense	probably benign	0.01
IGL01810:Usp18	APN	6	121,230,730 (GRCm39)	missense	probably damaging	1.00
IGL02568:Usp18	APN	6	121,238,050 (GRCm39)	missense	probably benign	0.00
IGL02613:Usp18	APN	6	121,238,049 (GRCm39)	missense	probably benign	0.11
R0961:Usp18	UTSW	6	121,238,452 (GRCm39)	missense	probably benign	0.00
R1350:Usp18	UTSW	6	121,239,651 (GRCm39)	missense	possibly damaging	0.64
R1855:Usp18	UTSW	6	121,239,076 (GRCm39)	missense	probably benign	0.07
R1916:Usp18	UTSW	6	121,245,513 (GRCm39)	missense	probably benign	0.14
R1981:Usp18	UTSW	6	121,229,476 (GRCm39)	missense	probably benign	0.08
R2015:Usp18	UTSW	6	121,245,509 (GRCm39)	missense	probably damaging	1.00
R4062:Usp18	UTSW	6	121,238,326 (GRCm39)	missense	probably benign
R5000:Usp18	UTSW	6	121,229,479 (GRCm39)	missense	possibly damaging	0.84
R5894:Usp18	UTSW	6	121,238,456 (GRCm39)	missense	probably benign	0.03
R6006:Usp18	UTSW	6	121,239,781 (GRCm39)	missense	possibly damaging	0.58
R6932:Usp18	UTSW	6	121,229,473 (GRCm39)	missense	probably benign	0.01
R8243:Usp18	UTSW	6	121,246,103 (GRCm39)	missense	probably benign	0.00
R8325:Usp18	UTSW	6	121,230,769 (GRCm39)	missense	probably damaging	1.00
R9005:Usp18	UTSW	6	121,229,529 (GRCm39)	missense	probably benign	0.09
R9578:Usp18	UTSW	6	121,239,726 (GRCm39)	missense	probably benign	0.01
Z1177:Usp18	UTSW	6	121,232,234 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCATGTTCTTAGTAGACCCCAG -3'
(R):5'- TTAGGCATCTCTGGAAAGGAGAC -3'

Sequencing Primer
(F):5'- TGTTCTTAGTAGACCCCAGAAAAAC -3'
(R):5'- GGAACTCACTTTATAGACCAGGCTG -3'

Posted On

2019-09-13