Mutagenetix > Incidental Mutation

Incidental Mutation 'R0530:Uchl5'

49085

Institutional Source

Beutler Lab

Gene Symbol

Uchl5

Ensembl Gene

ENSMUSG00000018189

Gene Name

ubiquitin carboxyl-terminal esterase L5

Synonyms

Uch37, 5830413B11Rik

MMRRC Submission

038722-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0530 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

143653010-143683204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143670082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 105 (V105A)

Ref Sequence

ENSEMBL: ENSMUSP00000140106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018333] [ENSMUST00000185493] [ENSMUST00000185539] [ENSMUST00000189936]

AlphaFold

Q9WUP7

PDB Structure

Crystal structure of mUCH37-hRPN13 CTD complex [X-RAY DIFFRACTION]
Crystal Structure of mUCH37-hRPN13 CTD-hUb complex [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018333
AA Change: V105A

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018333
Gene: ENSMUSG00000018189
AA Change: V105A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C12	8	209	3.7e-73	PFAM
low complexity region	314	329	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185493

SMART Domains

Protein: ENSMUSP00000139668
Gene: ENSMUSG00000018189

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C12	7	85	3e-20	PFAM
Pfam:Peptidase_C12	66	169	3.4e-29	PFAM
coiled coil region	177	204	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185539

SMART Domains

Protein: ENSMUSP00000140681
Gene: ENSMUSG00000018189

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C12	1	54	2e-19	PFAM
coiled coil region	62	89	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189936
AA Change: V105A

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140106
Gene: ENSMUSG00000018189
AA Change: V105A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C12	7	211	1.2e-75	PFAM
low complexity region	314	329	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191512

Meta Mutation Damage Score

0.6008

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 93.1%

Validation Efficiency

96% (51/53)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality associated with abnormal brain development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,083,920 (GRCm39)	W617R	probably damaging	Het
Adam34l	A	T	8: 44,079,568 (GRCm39)	C219S	probably benign	Het
Cep83	A	T	10: 94,555,450 (GRCm39)		probably benign	Het
Ces1e	G	A	8: 93,946,149 (GRCm39)		probably benign	Het
Ckap2	A	G	8: 22,665,988 (GRCm39)		probably benign	Het
Clip1	C	A	5: 123,778,594 (GRCm39)	R443L	probably damaging	Het
Clmp	A	G	9: 40,672,302 (GRCm39)	D44G	probably benign	Het
Cntnap2	G	A	6: 46,506,839 (GRCm39)	Q304*	probably null	Het
Cst7	A	T	2: 150,412,435 (GRCm39)		probably benign	Het
Dclk3	A	T	9: 111,311,789 (GRCm39)	Y677F	probably damaging	Het
Dlat	G	T	9: 50,548,869 (GRCm39)	N562K	probably damaging	Het
Elmod1	A	T	9: 53,833,260 (GRCm39)	Y182N	probably damaging	Het
Fzd10	T	C	5: 128,679,077 (GRCm39)	F266L	probably damaging	Het
Gm8258	A	G	5: 104,923,952 (GRCm39)		noncoding transcript	Het
Gm9742	T	A	13: 8,080,041 (GRCm39)		noncoding transcript	Het
Hdlbp	T	C	1: 93,358,039 (GRCm39)		probably benign	Het
Itga8	A	G	2: 12,196,627 (GRCm39)	S597P	probably damaging	Het
Kndc1	A	T	7: 139,481,153 (GRCm39)	I80F	probably damaging	Het
Ktn1	A	G	14: 47,970,700 (GRCm39)	N1192S	probably benign	Het
Ldha	G	A	7: 46,503,417 (GRCm39)	V270M	probably damaging	Het
Lyst	T	C	13: 13,931,891 (GRCm39)		probably benign	Het
Map3k9	A	T	12: 81,769,256 (GRCm39)	F954I	probably benign	Het
Mroh2b	A	G	15: 4,963,877 (GRCm39)	N823S	probably damaging	Het
Mycbp2	A	T	14: 103,419,895 (GRCm39)	N2480K	probably damaging	Het
Nat1	A	G	8: 67,943,977 (GRCm39)	K121E	probably benign	Het
Neurl1b	T	A	17: 26,660,519 (GRCm39)		probably null	Het
Nnt	C	A	13: 119,531,257 (GRCm39)	L163F	probably damaging	Het
Or10v5	A	G	19: 11,805,556 (GRCm39)	V278A	probably benign	Het
Otog	A	G	7: 45,947,668 (GRCm39)	T2274A	probably damaging	Het
Pde4b	G	A	4: 102,459,848 (GRCm39)	R561Q	probably damaging	Het
Pitpnm2	A	G	5: 124,269,264 (GRCm39)	F453L	probably damaging	Het
Pms1	T	C	1: 53,235,972 (GRCm39)		probably null	Het
Pot1a	A	G	6: 25,771,540 (GRCm39)	V227A	possibly damaging	Het
Prdx6b	A	G	2: 80,123,659 (GRCm39)	N156S	probably damaging	Het
Ptpn9	A	G	9: 56,968,417 (GRCm39)	S586G	probably benign	Het
Serpina6	A	T	12: 103,618,053 (GRCm39)	N253K	probably damaging	Het
Slc12a2	T	A	18: 58,052,608 (GRCm39)	V809D	possibly damaging	Het
Slc2a8	C	T	2: 32,863,696 (GRCm39)	A449T	probably benign	Het
Slc6a6	A	G	6: 91,701,939 (GRCm39)	I116V	probably null	Het
Synj2	T	A	17: 6,058,380 (GRCm39)	S58R	possibly damaging	Het
Tafa3	T	C	3: 104,679,487 (GRCm39)		probably benign	Het
Tktl2	T	C	8: 66,965,831 (GRCm39)	V463A	probably damaging	Het
Usp9y	T	C	Y: 1,333,600 (GRCm39)		probably benign	Het
Vmn1r200	T	C	13: 22,579,667 (GRCm39)	S148P	probably damaging	Het
Vmn2r50	A	T	7: 9,781,644 (GRCm39)	M367K	possibly damaging	Het
Vps13a	T	C	19: 16,632,570 (GRCm39)		probably benign	Het
Wdr26	A	T	1: 181,013,635 (GRCm39)		probably null	Het
Wdr87-ps	A	G	7: 29,229,545 (GRCm39)		noncoding transcript	Het
Ythdc2	T	A	18: 44,983,465 (GRCm39)	M544K	probably damaging	Het
Zpld2	A	G	4: 133,930,221 (GRCm39)	I28T	probably benign	Het

Other mutations in Uchl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01985:Uchl5	APN	1	143,661,864 (GRCm39)	splice site	probably benign
IGL02084:Uchl5	APN	1	143,677,912 (GRCm39)	missense	possibly damaging	0.86
IGL03387:Uchl5	APN	1	143,677,940 (GRCm39)	missense	probably benign	0.38
R1495:Uchl5	UTSW	1	143,675,675 (GRCm39)	missense	possibly damaging	0.85
R1521:Uchl5	UTSW	1	143,674,160 (GRCm39)	missense	possibly damaging	0.92
R4534:Uchl5	UTSW	1	143,661,954 (GRCm39)	missense	probably benign	0.35
R6579:Uchl5	UTSW	1	143,674,130 (GRCm39)	missense	probably damaging	1.00
R7383:Uchl5	UTSW	1	143,659,753 (GRCm39)	missense	probably benign	0.00
R7405:Uchl5	UTSW	1	143,675,752 (GRCm39)	nonsense	probably null
R7414:Uchl5	UTSW	1	143,682,433 (GRCm39)	missense	unknown
R7731:Uchl5	UTSW	1	143,670,275 (GRCm39)	missense
R8834:Uchl5	UTSW	1	143,661,968 (GRCm39)	nonsense	probably null
R9690:Uchl5	UTSW	1	143,670,016 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GCTGCCTTAACTGGACTTGTTTGC -3'
(R):5'- CATCTGAGTTACTCAATGCCAGCCC -3'

Sequencing Primer
(F):5'- TCAAGTTCCTGAAAGTAGACCAG -3'
(R):5'- AATGCCAGCCCCTTCATC -3'

Posted On

2013-06-12