Mutagenetix > Incidental Mutation

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01710

Quality Score

Status

Chromosome

Chromosomal Location

64142483-64143644 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64142788 bp (GRCm39)

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]

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 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: 62,004,645 (GRCm39)	T48I	probably damaging	Het
Ccpg1	T	C	9: 72,904,723 (GRCm39)		probably benign	Het
Chkb	G	A	15: 89,310,843 (GRCm39)	Q379*	probably null	Het
Chst15	T	A	7: 131,872,236 (GRCm39)	D15V	probably benign	Het
Cntn4	G	A	6: 106,527,392 (GRCm39)	V425I	possibly damaging	Het
Cpa6	T	A	1: 10,395,497 (GRCm39)	N390I	probably damaging	Het
Efhd2	A	G	4: 141,587,872 (GRCm39)	F193S	probably damaging	Het
Ell3	T	C	2: 121,271,993 (GRCm39)	H128R	probably damaging	Het
Ercc5	T	G	1: 44,203,235 (GRCm39)	L291V	probably damaging	Het
Eva1c	A	G	16: 90,701,235 (GRCm39)	Y302C	probably damaging	Het
Fmo3	A	C	1: 162,810,612 (GRCm39)	L26R	probably damaging	Het
Galntl6	T	A	8: 58,989,002 (GRCm39)	D17V	probably damaging	Het
Gm6483	C	T	8: 19,741,629 (GRCm39)	P55S	probably damaging	Het
Gstt2	A	G	10: 75,669,579 (GRCm39)		probably benign	Het
Hmcn2	T	A	2: 31,233,114 (GRCm39)	L221Q	probably damaging	Het
Hoxa3	T	C	6: 52,147,554 (GRCm39)		probably benign	Het
Kctd12b	T	C	X: 152,472,479 (GRCm39)	D70G	probably damaging	Het
Kdm7a	T	A	6: 39,152,320 (GRCm39)	E125D	probably benign	Het
Klk1b21	T	A	7: 43,755,919 (GRCm39)	F249L	probably benign	Het
Mrpl41	T	C	2: 24,864,429 (GRCm39)	D81G	possibly damaging	Het
Nomo1	T	A	7: 45,687,980 (GRCm39)	L82Q	probably damaging	Het
Or5p58	G	T	7: 107,694,449 (GRCm39)	F109L	probably benign	Het
Papolg	A	T	11: 23,814,026 (GRCm39)	S718T	probably damaging	Het
Pex6	A	G	17: 47,036,252 (GRCm39)		probably benign	Het
Pi4k2a	T	A	19: 42,093,418 (GRCm39)	L253Q	probably damaging	Het
Prdx6b	T	A	2: 80,123,490 (GRCm39)	F100I	probably damaging	Het
Prr36	G	A	8: 4,265,243 (GRCm39)	P169L	probably damaging	Het
Ptgfrn	T	C	3: 100,980,404 (GRCm39)	E312G	probably damaging	Het
Rasgrf1	A	G	9: 89,873,745 (GRCm39)	I685V	probably benign	Het
Setdb1	T	C	3: 95,246,164 (GRCm39)	E586G	probably damaging	Het
Sez6l2	C	A	7: 126,567,388 (GRCm39)	T841K	probably damaging	Het
Slc25a17	A	T	15: 81,211,527 (GRCm39)	L163*	probably null	Het
Slc35f3	A	T	8: 127,115,900 (GRCm39)	I276F	probably benign	Het
Tcerg1l	T	A	7: 137,996,789 (GRCm39)	K149N	possibly damaging	Het
Tex28	T	A	X: 73,195,939 (GRCm39)	K278*	probably null	Het
Tmprss9	A	G	10: 80,733,793 (GRCm39)		probably benign	Het
Tnfaip8l1	A	G	17: 56,478,782 (GRCm39)	K24R	probably benign	Het
Trim36	T	C	18: 46,321,455 (GRCm39)		probably benign	Het
Uba1	C	T	X: 20,537,604 (GRCm39)	T274I	possibly damaging	Het
Ubr2	T	C	17: 47,254,335 (GRCm39)	T1439A	probably benign	Het
Ubr4	A	G	4: 139,145,772 (GRCm39)	D1523G	possibly 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
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
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

2014-01-21