Mutagenetix > Incidental Mutation

Incidental Mutation 'R9005:Usp18'

685212

Institutional Source

Beutler Lab

Gene Symbol

Usp18

Ensembl Gene

ENSMUSG00000030107

Gene Name

ubiquitin specific peptidase 18

Synonyms

UBP43, 1110058H21Rik

MMRRC Submission

068835-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.551) question?

Stock #

R9005 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121222865-121247876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 121229529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 49 (H49Q)

Ref Sequence

ENSEMBL: ENSMUSP00000032198 (fasta)

Gene Model

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

AlphaFold

Q9WTV6

Predicted Effect

probably benign
Transcript: ENSMUST00000032198
AA Change: H49Q

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000032198
Gene: ENSMUSG00000030107
AA Change: H49Q

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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (80/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	C	T	19: 21,630,075 (GRCm39)		probably benign	Het
Abcd4	C	T	12: 84,655,356 (GRCm39)	W369*	probably null	Het
Abcf3	A	G	16: 20,368,056 (GRCm39)	E98G	probably benign	Het
Acaca	A	T	11: 84,262,410 (GRCm39)	D2004V	probably damaging	Het
Acot5	G	C	12: 84,116,630 (GRCm39)	M130I		Het
Adamts3	C	T	5: 89,825,693 (GRCm39)	E1049K	probably benign	Het
Agfg2	A	T	5: 137,650,744 (GRCm39)	L456Q	probably damaging	Het
Agtr1b	T	A	3: 20,370,343 (GRCm39)	T88S	possibly damaging	Het
Amer2	G	C	14: 60,617,376 (GRCm39)	D524H	probably damaging	Het
Ankrd61	T	A	5: 143,831,676 (GRCm39)	T43S	probably benign	Het
Apcs	A	G	1: 172,721,776 (GRCm39)	L190P	probably benign	Het
Arsg	A	G	11: 109,381,346 (GRCm39)	K30E	probably benign	Het
Banp	A	T	8: 122,705,441 (GRCm39)	M104L	possibly damaging	Het
Caskin1	A	G	17: 24,718,111 (GRCm39)	Q268R	probably benign	Het
Ccdc112	A	G	18: 46,429,455 (GRCm39)	V81A	probably damaging	Het
Cfap44	T	C	16: 44,280,517 (GRCm39)	I1432T	probably damaging	Het
Chd2	A	T	7: 73,134,294 (GRCm39)	N684K	probably damaging	Het
Creb1	T	C	1: 64,605,478 (GRCm39)		probably null	Het
Ctsc	C	T	7: 87,927,502 (GRCm39)	T31I	probably damaging	Het
Cttnbp2	C	A	6: 18,434,430 (GRCm39)	R476L	probably damaging	Het
Cwf19l1	T	C	19: 44,111,653 (GRCm39)	D260G	possibly damaging	Het
Cyp24a1	A	T	2: 170,336,005 (GRCm39)	S211T	probably damaging	Het
Ddx3y	T	C	Y: 1,282,919 (GRCm39)	N46D	probably damaging	Het
Dgkz	G	T	2: 91,769,090 (GRCm39)	H653Q	probably benign	Het
Dnajc16	A	T	4: 141,491,945 (GRCm39)	I626N	possibly damaging	Het
Dsc2	T	C	18: 20,171,151 (GRCm39)	D616G	probably benign	Het
Dscam	A	T	16: 96,602,580 (GRCm39)	S621T	probably damaging	Het
Dst	T	A	1: 34,267,774 (GRCm39)	V3058E	probably damaging	Het
Ep400	A	T	5: 110,858,959 (GRCm39)	C1125S	unknown	Het
Glyatl3	G	A	17: 41,223,619 (GRCm39)	Q41*	probably null	Het
Gm7694	T	G	1: 170,128,927 (GRCm39)	I201L	probably damaging	Het
Gnal	C	T	18: 67,221,830 (GRCm39)	R78*	probably null	Het
Gtf3c1	T	C	7: 125,303,069 (GRCm39)	D122G	probably benign	Het
Htt	G	T	5: 34,975,095 (GRCm39)	D622Y	possibly damaging	Het
Igkv4-92	A	G	6: 68,732,081 (GRCm39)	C98R	probably benign	Het
Incenp	G	A	19: 9,855,088 (GRCm39)	R608*	probably null	Het
Kics2	A	G	10: 121,586,501 (GRCm39)	Y272C	probably damaging	Het
Kif3c	G	A	12: 3,451,706 (GRCm39)	R679H	probably damaging	Het
Kng1	T	A	16: 22,898,146 (GRCm39)	H515Q	probably damaging	Het
Lamb2	T	C	9: 108,361,370 (GRCm39)		probably null	Het
Malrd1	A	T	2: 15,850,140 (GRCm39)	N1253I	unknown	Het
Map3k21	A	T	8: 126,637,471 (GRCm39)	D19V		Het
Marchf2	G	T	17: 33,915,207 (GRCm39)	P129Q	probably damaging	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Ms4a4d	T	A	19: 11,533,564 (GRCm39)	D148E	possibly damaging	Het
Myl4	A	G	11: 104,468,384 (GRCm39)	D36G	probably damaging	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or2a25	T	C	6: 42,889,170 (GRCm39)	S238P	probably damaging	Het
Or5ac24	A	T	16: 59,165,929 (GRCm39)	I45N	probably damaging	Het
Or5an11	A	G	19: 12,245,704 (GRCm39)	T37A	probably benign	Het
Pard3	G	A	8: 128,003,647 (GRCm39)	S123N	probably damaging	Het
Parp8	T	C	13: 117,013,126 (GRCm39)	N638D	probably benign	Het
Pgpep1l	A	T	7: 67,887,406 (GRCm39)	S65T	probably damaging	Het
Ppp1r13b	A	G	12: 111,796,708 (GRCm39)	V1068A	probably benign	Het
Pramel20	G	A	4: 143,298,425 (GRCm39)	D123N	probably benign	Het
Prkd1	G	A	12: 50,430,185 (GRCm39)	Q641*	probably null	Het
Ptgr2	T	C	12: 84,344,873 (GRCm39)	V82A	possibly damaging	Het
Rbm34	G	A	8: 127,686,332 (GRCm39)	P225S	possibly damaging	Het
Rnps1	A	T	17: 24,637,496 (GRCm39)	K46I	unknown	Het
Shank1	T	C	7: 44,002,409 (GRCm39)	V1376A	probably benign	Het
Ski	A	T	4: 155,306,317 (GRCm39)	Y221N	probably damaging	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Slit2	G	A	5: 48,459,860 (GRCm39)	C1380Y	possibly damaging	Het
Smpd3	C	T	8: 106,984,058 (GRCm39)	G554S	probably benign	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Spdl1	C	A	11: 34,700,535 (GRCm39)	C605F	possibly damaging	Het
Syne1	C	A	10: 5,155,406 (GRCm39)	D5568Y	probably benign	Het
Tac1	C	A	6: 7,559,141 (GRCm39)	A111D	possibly damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tnfrsf1a	T	C	6: 125,333,878 (GRCm39)	C44R	probably damaging	Het
Traf3ip3	T	C	1: 192,864,285 (GRCm39)	Q366R	probably benign	Het
Trip10	A	G	17: 57,569,416 (GRCm39)	D479G	probably damaging	Het
Trip11	T	C	12: 101,845,131 (GRCm39)	T1536A	probably benign	Het
Tstd3	G	T	4: 21,767,082 (GRCm39)	A13E	possibly damaging	Het
Urb1	T	C	16: 90,550,678 (GRCm39)	K2058R	probably benign	Het
Usp15	A	T	10: 122,982,703 (GRCm39)	I304N	possibly damaging	Het
Vmn1r56	T	A	7: 5,199,389 (GRCm39)	D76V	probably damaging	Het
Wnk1	A	G	6: 119,939,393 (GRCm39)	S167P	probably damaging	Het
Zfp229	G	A	17: 21,965,731 (GRCm39)	A654T	possibly damaging	Het
Zfp977	C	T	7: 42,230,082 (GRCm39)	V148I	probably benign	Het
Znfx1	A	T	2: 166,880,656 (GRCm39)	I1240N		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
R7357:Usp18	UTSW	6	121,230,808 (GRCm39)	missense	possibly damaging	0.90
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
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'- CCTGGAAGTGAAGTTGTGGAC -3'
(R):5'- CAAAGCAAATGGTTTCGGGGAC -3'

Sequencing Primer
(F):5'- AGTGAAGTTGTGGACTCCCGAC -3'
(R):5'- CTGTGCCACTTCCAAAAC -3'

Posted On

2021-10-11