Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02739:Uchl4'

305787

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uchl4

Ensembl Gene

ENSMUSG00000035337

Gene Name

ubiquitin carboxyl-terminal esterase L4

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02739

Quality Score

Status

Chromosome

Chromosomal Location

64142483-64143644 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64142819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 100 (T100M)

Ref Sequence

ENSEMBL: ENSMUSP00000045208 (fasta)

Gene Model

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

AlphaFold

P58321

Predicted Effect

probably benign
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 damaging
Transcript: ENSMUST00000039011
AA Change: T100M

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

SMART Domains

Protein: ENSMUSP00000045208
Gene: ENSMUSG00000035337
AA Change: T100M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214497

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,026,364 (GRCm39)	C887S	possibly damaging	Het
Adamdec1	C	A	14: 68,807,605 (GRCm39)	E352*	probably null	Het
Bglap2	A	T	3: 88,285,319 (GRCm39)		probably null	Het
Bsn	A	T	9: 107,989,745 (GRCm39)	H2002Q	probably benign	Het
Chtop	T	A	3: 90,409,557 (GRCm39)	Q165L	possibly damaging	Het
Clcn1	A	T	6: 42,263,714 (GRCm39)		probably null	Het
Ctsr	T	C	13: 61,309,658 (GRCm39)	T184A	probably benign	Het
Defb36	T	C	2: 152,446,439 (GRCm39)	L11P	unknown	Het
Dock8	A	G	19: 25,165,852 (GRCm39)	E1912G	probably damaging	Het
Dpp3	A	G	19: 4,973,756 (GRCm39)	Y106H	probably damaging	Het
Epas1	A	G	17: 87,112,710 (GRCm39)	T103A	probably damaging	Het
Epcam	A	T	17: 87,947,922 (GRCm39)	T131S	probably benign	Het
Fam169a	A	G	13: 97,230,563 (GRCm39)		probably benign	Het
Gh	T	A	11: 106,192,559 (GRCm39)		probably benign	Het
Kif20a	A	T	18: 34,761,996 (GRCm39)	K399*	probably null	Het
Lrp1b	A	G	2: 41,388,227 (GRCm39)	I466T	probably damaging	Het
Nlk	A	G	11: 78,465,677 (GRCm39)	V409A	probably benign	Het
Nomo1	A	G	7: 45,693,731 (GRCm39)		probably null	Het
Nr2c1	T	A	10: 93,992,834 (GRCm39)	M16K	probably damaging	Het
Nxph2	A	T	2: 23,289,912 (GRCm39)	Q88L	probably benign	Het
Or51a39	A	G	7: 102,363,521 (GRCm39)	I33T	possibly damaging	Het
Pkdrej	T	A	15: 85,703,895 (GRCm39)	R680S	probably benign	Het
Pkhd1l1	A	T	15: 44,404,346 (GRCm39)	N2325I	probably benign	Het
Pnliprp2	T	C	19: 58,748,941 (GRCm39)		probably null	Het
Ppp1r42	T	A	1: 10,039,078 (GRCm39)	K347N	probably benign	Het
Prtg	T	C	9: 72,758,867 (GRCm39)	V407A	possibly damaging	Het
Psmb8	C	A	17: 34,419,728 (GRCm39)	S194*	probably null	Het
Rnf214	T	C	9: 45,780,772 (GRCm39)	I406V	probably benign	Het
Rreb1	C	T	13: 38,077,797 (GRCm39)	S3L	probably damaging	Het
Sdad1	C	T	5: 92,437,931 (GRCm39)	A539T	probably benign	Het
Sema3a	A	G	5: 13,501,128 (GRCm39)	Y57C	probably damaging	Het
Susd5	A	G	9: 113,925,101 (GRCm39)	E328G	possibly damaging	Het
Syngr3	T	C	17: 24,905,372 (GRCm39)	T175A	probably damaging	Het
Tcf20	T	A	15: 82,740,281 (GRCm39)	Q390L	probably damaging	Het
Tex15	A	G	8: 34,071,721 (GRCm39)	T2423A	possibly damaging	Het
Tlr1	T	C	5: 65,084,469 (GRCm39)	N36S	probably benign	Het
Uhrf1	A	G	17: 56,612,129 (GRCm39)	K11R	probably benign	Het
Vps13b	T	A	15: 35,880,046 (GRCm39)	D3040E	probably damaging	Het
Wdr62	A	T	7: 29,941,885 (GRCm39)	Y640*	probably null	Het
Zkscan17	T	G	11: 59,394,352 (GRCm39)	E83A	probably damaging	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
R0026:Uchl4	UTSW	9	64,142,653 (GRCm39)	splice site	probably null
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

2015-04-16