Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01710:Uchl4'

104738

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uchl4

Ensembl Gene

ENSMUSG00000035337

Gene Name

ubiquitin carboxyl-terminal esterase L4

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01710

Quality Score

Status

Chromosome

Chromosomal Location

64235201-64236362 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64235506 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 90 (T90S)

Ref Sequence

ENSEMBL: ENSMUSP00000045208 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000039011
AA Change: T90S

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000045208
Gene: ENSMUSG00000035337
AA Change: T90S

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

MGI Phenotype

Homozygous inactivation of this gene leads to reduced embryo size and midgestational lethality due to impaired development and hypovascularization of the placenta with decreased labyrinth cell proliferation and enhanced cell apoptosis. Mutant MEFs fail to exhibit fibronectin-induced migration.,NO_PHENOTYPE

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	G	A	18: 61,871,574	T48I	probably damaging	Het
Ccpg1	T	C	9: 72,997,441		probably benign	Het
Chkb	G	A	15: 89,426,640	Q379*	probably null	Het
Chst15	T	A	7: 132,270,507	D15V	probably benign	Het
Cntn4	G	A	6: 106,550,431	V425I	possibly damaging	Het
Cpa6	T	A	1: 10,325,272	N390I	probably damaging	Het
Efhd2	A	G	4: 141,860,561	F193S	probably damaging	Het
Ell3	T	C	2: 121,441,512	H128R	probably damaging	Het
Ercc5	T	G	1: 44,164,075	L291V	probably damaging	Het
Eva1c	A	G	16: 90,904,347	Y302C	probably damaging	Het
Fmo3	A	C	1: 162,983,043	L26R	probably damaging	Het
Galntl6	T	A	8: 58,535,968	D17V	probably damaging	Het
Gm6483	C	T	8: 19,691,613	P55S	probably damaging	Het
Gstt2	A	G	10: 75,833,745		probably benign	Het
Hmcn2	T	A	2: 31,343,102	L221Q	probably damaging	Het
Hoxa3	T	C	6: 52,170,574		probably benign	Het
Kctd12b	T	C	X: 153,689,483	D70G	probably damaging	Het
Kdm7a	T	A	6: 39,175,386	E125D	probably benign	Het
Klk1b21	T	A	7: 44,106,495	F249L	probably benign	Het
Mrpl41	T	C	2: 24,974,417	D81G	possibly damaging	Het
Nomo1	T	A	7: 46,038,556	L82Q	probably damaging	Het
Olfr482	G	T	7: 108,095,242	F109L	probably benign	Het
Papolg	A	T	11: 23,864,026	S718T	probably damaging	Het
Pex6	A	G	17: 46,725,326		probably benign	Het
Pi4k2a	T	A	19: 42,104,979	L253Q	probably damaging	Het
Prdx6b	T	A	2: 80,293,146	F100I	probably damaging	Het
Prr36	G	A	8: 4,215,243	P169L	probably damaging	Het
Ptgfrn	T	C	3: 101,073,088	E312G	probably damaging	Het
Rasgrf1	A	G	9: 89,991,692	I685V	probably benign	Het
Setdb1	T	C	3: 95,338,853	E586G	probably damaging	Het
Sez6l2	C	A	7: 126,968,216	T841K	probably damaging	Het
Slc25a17	A	T	15: 81,327,326	L163*	probably null	Het
Slc35f3	A	T	8: 126,389,161	I276F	probably benign	Het
Tcerg1l	T	A	7: 138,395,060	K149N	possibly damaging	Het
Tex28	T	A	X: 74,152,333	K278*	probably null	Het
Tmprss9	A	G	10: 80,897,959		probably benign	Het
Tnfaip8l1	A	G	17: 56,171,782	K24R	probably benign	Het
Trim36	T	C	18: 46,188,388		probably benign	Het
Uba1	C	T	X: 20,671,365	T274I	possibly damaging	Het
Ubr2	T	C	17: 46,943,409	T1439A	probably benign	Het
Ubr4	A	G	4: 139,418,461	D1523G	possibly damaging	Het

Other mutations in Uchl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01468:Uchl4	APN	9	64235716	missense	possibly damaging	0.82
IGL02030:Uchl4	APN	9	64235629	missense	probably benign
IGL02739:Uchl4	APN	9	64235537	missense	probably damaging	1.00
R0026:Uchl4	UTSW	9	64235371	intron	probably null
R0026:Uchl4	UTSW	9	64235371	intron	probably null
R1572:Uchl4	UTSW	9	64235731	missense	probably benign
R1801:Uchl4	UTSW	9	64235475	missense	probably benign
R2113:Uchl4	UTSW	9	64235536	missense	probably damaging	1.00
R4042:Uchl4	UTSW	9	64235557	missense	probably benign	0.00
R4500:Uchl4	UTSW	9	64235881	missense	possibly damaging	0.96
R4625:Uchl4	UTSW	9	64235798	missense	probably damaging	1.00
R5176:Uchl4	UTSW	9	64235740	nonsense	probably null
R5364:Uchl4	UTSW	9	64235539	missense	possibly damaging	0.88
R6581:Uchl4	UTSW	9	64235793	missense	possibly damaging	0.93
R7134:Uchl4	UTSW	9	64235339	missense	probably damaging	1.00
R7451:Uchl4	UTSW	9	64235731	missense	probably benign

Posted On

2014-01-21