Mutagenetix > Incidental Mutation

Incidental Mutation 'R9554:Uchl1'

720651

Institutional Source

Beutler Lab

Gene Symbol

Uchl1

Ensembl Gene

ENSMUSG00000029223

Gene Name

ubiquitin carboxy-terminal hydrolase L1

Synonyms

PGP 9.5, PGP9.5

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9554 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66833464-66844577 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66833649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 6 (M6K)

Ref Sequence

ENSEMBL: ENSMUSP00000031131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031131]

AlphaFold

Q9R0P9

Predicted Effect

probably damaging
Transcript: ENSMUST00000031131
AA Change: M6K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031131
Gene: ENSMUSG00000029223
AA Change: M6K

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C12	3	206	3e-61	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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 peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for one allele show ataxia beginning at 80 days of age, followed by progressive tremors, impaired locomotion, atrophy of hind limb muscles, and death by 5-6 months. Mice homozygous for a second allele exhibit defects in motor coordinationand decreases in thermal pain sensation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,029,107 (GRCm39)	E817G	probably benign	Het
Abhd12b	A	G	12: 70,215,988 (GRCm39)	T182A	probably benign	Het
Allc	A	T	12: 28,607,414 (GRCm39)	C279*	probably null	Het
Ang	A	G	14: 51,338,976 (GRCm39)	D39G	probably damaging	Het
Atp8b3	G	A	10: 80,360,197 (GRCm39)	T958M	probably damaging	Het
Ccn4	G	A	15: 66,784,900 (GRCm39)	R191K	probably benign	Het
Ccnyl1	A	G	1: 64,753,750 (GRCm39)	Y187C	probably damaging	Het
Cfhr4	A	T	1: 139,668,169 (GRCm39)	S321R	probably benign	Het
Chd3	A	T	11: 69,251,015 (GRCm39)	W616R	probably damaging	Het
Cyp17a1	C	T	19: 46,657,165 (GRCm39)	R361H	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dcp1a	A	G	14: 30,201,691 (GRCm39)	Q38R	probably benign	Het
Ddias	T	C	7: 92,507,560 (GRCm39)	N785S	probably benign	Het
Depdc5	A	G	5: 33,122,076 (GRCm39)	N1133S	probably benign	Het
Dhx8	T	A	11: 101,645,614 (GRCm39)	Y877*	probably null	Het
Dlk1	G	A	12: 109,420,889 (GRCm39)	V15I	unknown	Het
Fam120b	G	A	17: 15,626,020 (GRCm39)	A458T	possibly damaging	Het
Fgd4	G	A	16: 16,308,353 (GRCm39)	T9I	probably benign	Het
Fhip1b	C	A	7: 105,038,915 (GRCm39)	R108L	probably damaging	Het
Gfpt1	C	T	6: 87,062,323 (GRCm39)	R561W	probably damaging	Het
Gm5773	A	G	3: 93,680,340 (GRCm39)	D4G	probably benign	Het
Helz2	T	A	2: 180,882,470 (GRCm39)	T108S	probably damaging	Het
Hivep1	G	A	13: 42,308,251 (GRCm39)	D164N	possibly damaging	Het
Kif15	G	T	9: 122,828,585 (GRCm39)	L902F	probably damaging	Het
Lrp2	T	A	2: 69,261,497 (GRCm39)	R4481S	probably damaging	Het
Mcm3ap	T	C	10: 76,332,310 (GRCm39)	V1209A	probably damaging	Het
Mkrn1	C	T	6: 39,376,838 (GRCm39)	R377H	probably benign	Het
Ms4a4a	G	A	19: 11,367,708 (GRCm39)	M191I	probably benign	Het
Myh11	T	A	16: 14,018,580 (GRCm39)	N1922I		Het
Nbeal1	C	T	1: 60,290,287 (GRCm39)	Q998*	probably null	Het
Neil3	C	A	8: 54,061,770 (GRCm39)	G204C	probably damaging	Het
Nsmce1	T	C	7: 125,066,994 (GRCm39)	E262G	possibly damaging	Het
Oc90	G	A	15: 65,761,437 (GRCm39)	P194S	probably benign	Het
Oplah	A	G	15: 76,193,787 (GRCm39)	S57P	probably benign	Het
Or10u4	A	T	10: 129,802,181 (GRCm39)	F123L	probably benign	Het
Or1x6	T	A	11: 50,939,223 (GRCm39)	Y96*	probably null	Het
Or2aj4	T	A	16: 19,384,722 (GRCm39)	I304F	possibly damaging	Het
Or4a73	C	A	2: 89,420,710 (GRCm39)	V250F	probably damaging	Het
Or4d5	T	A	9: 40,012,160 (GRCm39)	M209L	probably benign	Het
Or51g1	A	T	7: 102,633,774 (GRCm39)	I199N	probably damaging	Het
Or5p70	A	G	7: 107,994,365 (GRCm39)	T13A	probably benign	Het
Or8g28	A	C	9: 39,169,756 (GRCm39)	F71V	possibly damaging	Het
Pdzd8	A	T	19: 59,333,574 (GRCm39)	L149Q	probably damaging	Het
Pid1	A	G	1: 84,137,032 (GRCm39)	V33A	probably benign	Het
Polr3gl	A	G	3: 96,489,037 (GRCm39)	V60A	possibly damaging	Het
Prdm1	A	G	10: 44,317,242 (GRCm39)	V527A	probably benign	Het
Sbf2	T	C	7: 110,040,671 (GRCm39)	I385M	probably damaging	Het
Setbp1	C	T	18: 78,826,599 (GRCm39)	S1338N	probably benign	Het
Sh2b2	T	C	5: 136,253,006 (GRCm39)	T389A	probably benign	Het
Skint9	A	T	4: 112,248,915 (GRCm39)	M171K	probably benign	Het
Slx4	C	A	16: 3,805,820 (GRCm39)	M577I	probably benign	Het
Srcap	T	C	7: 127,151,577 (GRCm39)	S2092P	probably damaging	Het
Traf6	T	A	2: 101,518,953 (GRCm39)	H147Q	probably benign	Het
Ttn	T	A	2: 76,547,693 (GRCm39)	E32159V	possibly damaging	Het
Ubn1	T	C	16: 4,888,492 (GRCm39)	S154P	unknown	Het
Vmn1r193	A	T	13: 22,403,989 (GRCm39)	M1K	probably null	Het
Zfp429	T	A	13: 67,538,531 (GRCm39)	K304N	probably benign	Het
Zfp607b	T	A	7: 27,402,464 (GRCm39)	S307T	probably damaging	Het

Other mutations in Uchl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02179:Uchl1	APN	5	66,833,637 (GRCm39)	missense	probably benign	0.24
IGL02186:Uchl1	APN	5	66,834,382 (GRCm39)	nonsense	probably null
IGL03268:Uchl1	APN	5	66,839,824 (GRCm39)	missense	probably benign	0.03
R0556:Uchl1	UTSW	5	66,839,824 (GRCm39)	missense	probably benign	0.06
R1075:Uchl1	UTSW	5	66,839,808 (GRCm39)	missense	probably damaging	1.00
R1736:Uchl1	UTSW	5	66,834,417 (GRCm39)	critical splice donor site	probably null
R2516:Uchl1	UTSW	5	66,839,956 (GRCm39)	missense	probably damaging	1.00
R4888:Uchl1	UTSW	5	66,833,780 (GRCm39)	missense	probably benign	0.32
R5121:Uchl1	UTSW	5	66,833,780 (GRCm39)	missense	probably benign	0.32
R5569:Uchl1	UTSW	5	66,844,216 (GRCm39)	missense	probably damaging	0.99
R5788:Uchl1	UTSW	5	66,833,754 (GRCm39)	intron	probably benign
R6881:Uchl1	UTSW	5	66,841,065 (GRCm39)	missense	probably damaging	0.99
R6990:Uchl1	UTSW	5	66,839,818 (GRCm39)	missense	possibly damaging	0.86
R8807:Uchl1	UTSW	5	66,833,601 (GRCm39)	start gained	probably benign
R9364:Uchl1	UTSW	5	66,833,649 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTTGTACCATTCTGTGCG -3'
(R):5'- TGCTCTTGGAGGATAGGGAC -3'

Sequencing Primer
(F):5'- ACCATTCTGTGCGGTGCATG -3'
(R):5'- TAGGGACAGAGACTGCGC -3'

Posted On

2022-08-09