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

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	splice site	probably null
R0026:Uchl4	UTSW	9	64235371	splice site	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
R8268:Uchl4	UTSW	9	64235509	missense	probably damaging	1.00
R8804:Uchl4	UTSW	9	64235324	missense	probably damaging	1.00

Posted On

2014-01-21