Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01468:Uchl4'

88159

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 #

IGL01468

Quality Score

Status

Chromosome

Chromosomal Location

64235201-64236362 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64235716 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 160 (T160A)

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

possibly damaging
Transcript: ENSMUST00000039011
AA Change: T160A

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045208
Gene: ENSMUSG00000035337
AA Change: T160A

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	A	10: 80,003,877	V781I	probably benign	Het
Aldh5a1	G	T	13: 24,911,553		probably benign	Het
Arhgap12	T	C	18: 6,057,576	T435A	probably benign	Het
Atrnl1	G	A	19: 57,699,712	V870I	probably benign	Het
Cerkl	A	T	2: 79,343,215		probably null	Het
Cntnap2	T	A	6: 47,271,371	L13*	probably null	Het
Cr2	G	A	1: 195,168,535	P208S	probably damaging	Het
Dapk1	A	G	13: 60,760,798	D1075G	probably benign	Het
Dhx57	T	A	17: 80,255,610	K863*	probably null	Het
Dnaaf5	C	A	5: 139,151,480		probably null	Het
Fbxw7	T	A	3: 84,972,499	I336K	probably benign	Het
Ftcd	A	G	10: 76,584,587	D385G	probably benign	Het
Gm10153	T	C	7: 142,190,041	S117G	unknown	Het
Gzmb	T	C	14: 56,260,315	Y156C	probably benign	Het
Herc3	T	A	6: 58,854,895	D83E	probably benign	Het
Kif2b	A	G	11: 91,576,365	V364A	probably damaging	Het
Mknk2	A	G	10: 80,667,664		probably benign	Het
Olfr1352	A	T	10: 78,983,862	Q24L	probably damaging	Het
Pgm2	A	T	4: 99,962,170	N197I	possibly damaging	Het
Prss39	C	T	1: 34,499,400		probably benign	Het
Shroom3	T	C	5: 92,940,342	V236A	probably damaging	Het
Slc17a8	C	T	10: 89,592,021		probably null	Het
Slc24a3	A	G	2: 145,613,580	Y463C	probably benign	Het
Slc4a7	A	G	14: 14,737,480	E149G	probably damaging	Het
Synj1	G	A	16: 91,010,172		probably benign	Het
Tas2r138	T	A	6: 40,612,476	M279L	probably benign	Het
Terb1	A	G	8: 104,482,167		probably benign	Het
Tiparp	G	T	3: 65,552,609	G442*	probably null	Het
Trmt5	C	T	12: 73,281,104	V442I	probably benign	Het
Tsc2	T	C	17: 24,621,097	I383V	possibly damaging	Het
Vmn2r3	A	T	3: 64,274,961	M439K	possibly damaging	Het
Vmn2r4	A	T	3: 64,406,395	N388K	probably damaging	Het
Vmn2r52	A	T	7: 10,158,941	L757Q	probably damaging	Het
Zfp518a	T	C	19: 40,916,031	V1468A	probably benign	Het
Zxdc	A	T	6: 90,373,779	E404V	probably damaging	Het

Other mutations in Uchl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01710:Uchl4	APN	9	64235506	missense	probably benign	0.20
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
R9177:Uchl4	UTSW	9	64235704	missense	probably benign	0.24

Posted On

2013-11-18