Mutagenetix > Incidental Mutation

Incidental Mutation 'R0507:Uchl3'

47690

Institutional Source

Beutler Lab

Gene Symbol

Uchl3

Ensembl Gene

ENSMUSG00000022111

Gene Name

ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)

Synonyms

MMRRC Submission

038702-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.534) question?

Stock #

R0507 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101891403-101933561 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 101904443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 89 (L89*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002289]

AlphaFold

Q9JKB1

Predicted Effect

probably null
Transcript: ENSMUST00000002289
AA Change: L119*

SMART Domains

Protein: ENSMUSP00000002289
Gene: ENSMUSG00000022111
AA Change: L119*

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C12	6	214	1.2e-68	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000226340
AA Change: L89*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228773

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the deubiquitinating enzyme family. Members of this family are proteases that catalyze the removal of ubiquitin from polypeptides and are divided into five classes, depending on the mechanism of catalysis. This protein may hydrolyze the ubiquitinyl-N-epsilon amide bond of ubiquitinated proteins to regenerate ubiquitin for another catalytic cycle. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous null animals show degeneration in dorsal root ganglia. Mice display postnatal progressive retinal degeneration and muscular degeneration. In combination with a knockout of ubiquitin C-terminal hydrolase L1, neurological effects of each are accelerated, mice are dysphagic and die younger. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,838,655 (GRCm39)		probably benign	Het
Adamts16	T	C	13: 70,916,766 (GRCm39)	D742G	probably benign	Het
Akap9	G	A	5: 4,119,043 (GRCm39)	E3517K	probably benign	Het
Arfgef3	T	C	10: 18,467,369 (GRCm39)	T1944A	probably damaging	Het
Bsx	A	G	9: 40,787,796 (GRCm39)		probably benign	Het
Cct2	A	T	10: 116,891,151 (GRCm39)		probably null	Het
Cdkl4	T	C	17: 80,851,237 (GRCm39)	D155G	probably benign	Het
Cep250	C	T	2: 155,834,452 (GRCm39)	R2126C	possibly damaging	Het
Cep97	A	T	16: 55,726,245 (GRCm39)		probably benign	Het
Cpne3	C	T	4: 19,532,544 (GRCm39)		probably benign	Het
Csmd1	T	C	8: 16,235,358 (GRCm39)		probably benign	Het
Cx3cr1	C	A	9: 119,881,022 (GRCm39)	D127Y	probably damaging	Het
Dcdc2a	A	G	13: 25,286,572 (GRCm39)	Q165R	probably damaging	Het
Ddx17	A	G	15: 79,421,758 (GRCm39)		probably benign	Het
Dicer1	A	G	12: 104,657,917 (GRCm39)	S1886P	probably damaging	Het
Egf	T	C	3: 129,474,828 (GRCm39)	D571G	possibly damaging	Het
Fyb1	A	G	15: 6,664,297 (GRCm39)	D460G	probably benign	Het
Gbp2	G	T	3: 142,335,794 (GRCm39)	D165Y	probably damaging	Het
Gm14412	A	T	2: 177,006,325 (GRCm39)	N523K	possibly damaging	Het
Gsap	C	T	5: 21,474,961 (GRCm39)	T540I	possibly damaging	Het
Gucy2d	C	A	7: 98,108,209 (GRCm39)		probably null	Het
Icam4	C	A	9: 20,940,799 (GRCm39)	P17Q	possibly damaging	Het
Lyz1	A	T	10: 117,125,022 (GRCm39)		probably null	Het
Matcap1	T	C	8: 106,011,351 (GRCm39)	N261S	probably damaging	Het
Mbd6	A	G	10: 127,119,389 (GRCm39)		probably benign	Het
Mroh3	A	T	1: 136,118,718 (GRCm39)	I533N	probably damaging	Het
Muc4	A	T	16: 32,569,887 (GRCm39)	M316L	probably benign	Het
Myof	A	G	19: 37,889,725 (GRCm39)	I1282T	possibly damaging	Het
Ncald	T	G	15: 37,397,528 (GRCm39)	I51L	probably benign	Het
Negr1	T	A	3: 156,267,862 (GRCm39)	S11T	probably damaging	Het
Obscn	T	C	11: 58,920,167 (GRCm39)	N6735D	probably damaging	Het
Or52n4b	T	C	7: 108,144,292 (GRCm39)	S185P	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or6c1b	A	T	10: 129,273,157 (GRCm39)	M159L	probably benign	Het
Or9q1	T	A	19: 13,805,140 (GRCm39)	I207F	possibly damaging	Het
Otogl	A	G	10: 107,702,601 (GRCm39)	V684A	possibly damaging	Het
Palm3	A	G	8: 84,754,958 (GRCm39)	T157A	probably benign	Het
Pard3	T	A	8: 128,097,967 (GRCm39)		probably benign	Het
Pcdh15	A	G	10: 74,457,129 (GRCm39)	D1302G	probably damaging	Het
Pi16	G	A	17: 29,546,826 (GRCm39)	E467K	possibly damaging	Het
Plec	A	T	15: 76,056,983 (GRCm39)	I4183N	probably damaging	Het
Ppp1r13l	T	C	7: 19,109,739 (GRCm39)	L720P	possibly damaging	Het
Prag1	A	G	8: 36,571,277 (GRCm39)	E620G	probably damaging	Het
Ralbp1	G	A	17: 66,156,955 (GRCm39)	T646M	probably benign	Het
Rnf182	T	G	13: 43,821,823 (GRCm39)	S125A	probably benign	Het
Rpe	C	T	1: 66,754,300 (GRCm39)	T124I	probably benign	Het
Rufy4	T	C	1: 74,185,875 (GRCm39)	I514T	probably benign	Het
Sec13	A	T	6: 113,712,080 (GRCm39)	I85N	probably damaging	Het
Siglec1	C	T	2: 130,916,445 (GRCm39)		probably benign	Het
Skint5	T	C	4: 113,425,127 (GRCm39)		probably null	Het
Slc4a3	T	A	1: 75,532,725 (GRCm39)	I995K	probably damaging	Het
Smyd4	T	A	11: 75,290,534 (GRCm39)	S545T	possibly damaging	Het
Steap3	C	T	1: 120,169,313 (GRCm39)	R328H	possibly damaging	Het
Tgm6	G	A	2: 129,980,751 (GRCm39)	E183K	possibly damaging	Het
Themis	T	A	10: 28,657,828 (GRCm39)	V132E	possibly damaging	Het
Thsd1	T	A	8: 22,748,695 (GRCm39)	I461N	probably damaging	Het
Ttk	T	G	9: 83,750,120 (GRCm39)	S692A	probably damaging	Het
Twf1	A	G	15: 94,483,411 (GRCm39)	M99T	probably damaging	Het
Uhmk1	A	G	1: 170,034,760 (GRCm39)	V316A	probably damaging	Het
Unc80	A	G	1: 66,567,052 (GRCm39)	N886S	possibly damaging	Het
Vash2	G	T	1: 190,699,115 (GRCm39)		probably benign	Het
Vmn1r200	G	A	13: 22,579,718 (GRCm39)	E174K	probably benign	Het
Vps16	T	C	2: 130,279,632 (GRCm39)		probably null	Het
Wdr73	T	C	7: 80,541,594 (GRCm39)	E316G	possibly damaging	Het
Xpo1	T	C	11: 23,244,682 (GRCm39)	V1020A	possibly damaging	Het
Ylpm1	T	A	12: 85,075,886 (GRCm39)	N870K	probably benign	Het
Zfhx4	C	T	3: 5,466,048 (GRCm39)	Q2069*	probably null	Het
Zfp1005	T	A	2: 150,110,044 (GRCm39)	C245S	possibly damaging	Het
Zfp512b	C	A	2: 181,226,757 (GRCm39)		probably benign	Het

Other mutations in Uchl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
elohim	UTSW	14	101,903,240 (GRCm39)	missense	probably damaging	0.97
R0992:Uchl3	UTSW	14	101,905,969 (GRCm39)	missense	probably benign	0.08
R1365:Uchl3	UTSW	14	101,891,528 (GRCm39)	missense	probably damaging	1.00
R2213:Uchl3	UTSW	14	101,904,106 (GRCm39)	critical splice donor site	probably null
R2875:Uchl3	UTSW	14	101,905,996 (GRCm39)	missense	probably benign	0.02
R5027:Uchl3	UTSW	14	101,903,982 (GRCm39)	missense	possibly damaging	0.93
R5186:Uchl3	UTSW	14	101,933,353 (GRCm39)	missense	probably damaging	1.00
R6737:Uchl3	UTSW	14	101,928,033 (GRCm39)	missense	probably damaging	0.99
R7039:Uchl3	UTSW	14	101,923,128 (GRCm39)	intron	probably benign
R8308:Uchl3	UTSW	14	101,932,655 (GRCm39)	critical splice donor site	probably null
R9020:Uchl3	UTSW	14	101,903,986 (GRCm39)	missense	probably damaging	0.99
R9274:Uchl3	UTSW	14	101,903,240 (GRCm39)	missense	probably damaging	0.97
R9275:Uchl3	UTSW	14	101,905,963 (GRCm39)	critical splice acceptor site	probably null
R9464:Uchl3	UTSW	14	101,904,451 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGACTAATCCATGCCATTGCGAAC -3'
(R):5'- TGATGCTTCCCCAAACTATGGCTTC -3'

Sequencing Primer
(F):5'- CGGGAGAGAAATAAGTCCTTCTCATC -3'
(R):5'- GGCTTCAAGACAAACCGCTG -3'

Posted On

2013-06-12