Mutagenetix > Incidental Mutation

Incidental Mutation 'R0026:Uchl4'

18678

Institutional Source

Beutler Lab

Gene Symbol

Uchl4

Ensembl Gene

ENSMUSG00000035337

Gene Name

ubiquitin carboxyl-terminal esterase L4

Synonyms

MMRRC Submission

038321-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

64142483-64143644 bp(+) (GRCm39)

Type of Mutation

splice site (17842 bp from exon)

DNA Base Change (assembly)

A to T at 64142653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000005066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005066] [ENSMUST00000039011]

AlphaFold

P58321

Predicted Effect

probably null
Transcript: ENSMUST00000005066

SMART Domains

Protein: ENSMUSP00000005066
Gene: ENSMUSG00000004936

Domain	Start	End	E-Value	Type
low complexity region	30	51	N/A	INTRINSIC
S_TKc	68	361	4.44e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000039011
AA Change: I45L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045208
Gene: ENSMUSG00000035337
AA Change: I45L

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C12	6	217	2.2e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214497

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 78.7%
3x: 68.7%
10x: 42.4%
20x: 22.6%

Validation Efficiency

96% (75/78)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	T	7: 120,077,146 (GRCm39)		probably benign	Het
Acot10	G	A	15: 20,666,322 (GRCm39)	L140F	probably benign	Het
Asph	A	C	4: 9,601,361 (GRCm39)	S129A	probably damaging	Het
Atrn	T	C	2: 130,799,840 (GRCm39)	Y406H	probably damaging	Het
B4galt3	C	T	1: 171,101,831 (GRCm39)		probably benign	Het
BC016579	T	C	16: 45,460,730 (GRCm39)	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,576,494 (GRCm39)	L113P	probably benign	Het
Casq1	T	C	1: 172,046,967 (GRCm39)		probably benign	Het
Ccdc187	T	C	2: 26,171,365 (GRCm39)	D371G	probably benign	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Cyp4b1	C	T	4: 115,504,718 (GRCm39)	G56D	possibly damaging	Het
Dock5	C	A	14: 68,083,530 (GRCm39)	E126D	probably benign	Het
Exph5	A	T	9: 53,287,779 (GRCm39)	D1620V	probably benign	Het
Fancd2os	G	T	6: 113,574,652 (GRCm39)	T118N	probably damaging	Het
Fli1	A	G	9: 32,387,880 (GRCm39)	Y37H	probably damaging	Het
Gm17521	G	A	X: 121,939,239 (GRCm39)	S43L	probably benign	Het
Gnb3	A	G	6: 124,814,380 (GRCm39)	V135A	probably benign	Het
Ibtk	A	G	9: 85,572,356 (GRCm39)	V1278A	probably benign	Het
Ighv1-58	G	A	12: 115,275,907 (GRCm39)	T77I	probably benign	Het
Lgsn	T	A	1: 31,242,524 (GRCm39)	V202D	probably damaging	Het
Madd	A	G	2: 91,006,053 (GRCm39)	F381L	possibly damaging	Het
Ntf3	T	A	6: 126,078,768 (GRCm39)	N246I	probably damaging	Het
Pds5b	G	A	5: 150,673,295 (GRCm39)		probably benign	Het
Ppp3cb	C	T	14: 20,581,836 (GRCm39)	V60I	probably benign	Het
Prc1	T	C	7: 79,960,809 (GRCm39)		probably benign	Het
Prpf31	T	A	7: 3,642,667 (GRCm39)	N413K	probably benign	Het
Rapgef5	T	C	12: 117,652,896 (GRCm39)	S307P	probably benign	Het
Rbfox2	T	C	15: 76,968,357 (GRCm39)	T435A	possibly damaging	Het
Senp1	T	C	15: 97,974,549 (GRCm39)	R88G	probably damaging	Het
Slc35b1	T	C	11: 95,281,468 (GRCm39)	S294P	probably benign	Het
Slc44a5	G	A	3: 153,945,907 (GRCm39)		probably benign	Het
Spata31e2	T	A	1: 26,722,450 (GRCm39)	D910V	probably benign	Het
Taf1d	T	A	9: 15,219,944 (GRCm39)	S64R	probably damaging	Het
Trim6	T	A	7: 103,875,016 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,599,534 (GRCm39)	T19186A	probably damaging	Het
Usp32	T	C	11: 84,922,900 (GRCm39)	S673G	possibly damaging	Het
Utrn	T	C	10: 12,601,940 (GRCm39)		probably benign	Het
Vps13b	T	C	15: 35,923,447 (GRCm39)	I3774T	possibly damaging	Het
Vwa3a	A	G	7: 120,379,434 (GRCm39)	Q513R	probably damaging	Het
Yipf1	T	A	4: 107,202,357 (GRCm39)	L240*	probably null	Het

Other mutations in Uchl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01468:Uchl4	APN	9	64,142,998 (GRCm39)	missense	possibly damaging	0.82
IGL01710:Uchl4	APN	9	64,142,788 (GRCm39)	missense	probably benign	0.20
IGL02030:Uchl4	APN	9	64,142,911 (GRCm39)	missense	probably benign
IGL02739:Uchl4	APN	9	64,142,819 (GRCm39)	missense	probably damaging	1.00
R0026:Uchl4	UTSW	9	64,142,653 (GRCm39)	splice site	probably null
R1572:Uchl4	UTSW	9	64,143,013 (GRCm39)	missense	probably benign
R1801:Uchl4	UTSW	9	64,142,757 (GRCm39)	missense	probably benign
R2113:Uchl4	UTSW	9	64,142,818 (GRCm39)	missense	probably damaging	1.00
R4042:Uchl4	UTSW	9	64,142,839 (GRCm39)	missense	probably benign	0.00
R4500:Uchl4	UTSW	9	64,143,163 (GRCm39)	missense	possibly damaging	0.96
R4625:Uchl4	UTSW	9	64,143,080 (GRCm39)	missense	probably damaging	1.00
R5176:Uchl4	UTSW	9	64,143,022 (GRCm39)	nonsense	probably null
R5364:Uchl4	UTSW	9	64,142,821 (GRCm39)	missense	possibly damaging	0.88
R6581:Uchl4	UTSW	9	64,143,075 (GRCm39)	missense	possibly damaging	0.93
R7134:Uchl4	UTSW	9	64,142,621 (GRCm39)	missense	probably damaging	1.00
R7451:Uchl4	UTSW	9	64,143,013 (GRCm39)	missense	probably benign
R8268:Uchl4	UTSW	9	64,142,791 (GRCm39)	missense	probably damaging	1.00
R8804:Uchl4	UTSW	9	64,142,606 (GRCm39)	missense	probably damaging	1.00
R9177:Uchl4	UTSW	9	64,142,986 (GRCm39)	missense	probably benign	0.24

Posted On

2013-03-25