Mutagenetix > Incidental Mutation

Incidental Mutation 'R4042:Uchl4'

315774

Institutional Source

Beutler Lab

Gene Symbol

Uchl4

Ensembl Gene

ENSMUSG00000035337

Gene Name

ubiquitin carboxyl-terminal esterase L4

Synonyms

MMRRC Submission

040851-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4042 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64142483-64143644 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 64142839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 107 (I107L)

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: I107L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045208
Gene: ENSMUSG00000035337
AA Change: I107L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214497

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	A	G	17: 33,768,514 (GRCm39)	H864R	possibly damaging	Het
Akap6	A	T	12: 53,186,162 (GRCm39)		probably null	Het
Alox5	A	G	6: 116,437,979 (GRCm39)	S3P	possibly damaging	Het
Bcl2l2	G	A	14: 55,122,091 (GRCm39)	E85K	possibly damaging	Het
Chd6	A	T	2: 160,830,253 (GRCm39)	I1014N	probably damaging	Het
Cog1	A	T	11: 113,551,836 (GRCm39)	Q156L	probably damaging	Het
Col28a1	G	A	6: 8,014,678 (GRCm39)	S909F	probably damaging	Het
Csmd3	C	T	15: 47,477,480 (GRCm39)	G3339D	probably damaging	Het
Cst11	A	G	2: 148,613,200 (GRCm39)	S42P	probably benign	Het
Cyp2d10	C	T	15: 82,290,269 (GRCm39)	R67H	probably benign	Het
Fsip2	G	T	2: 82,813,896 (GRCm39)	R3405L	probably benign	Het
H2-Ab1	T	C	17: 34,483,834 (GRCm39)	V65A	probably benign	Het
Hdac6	T	C	X: 7,797,731 (GRCm39)	T993A	probably benign	Het
Insrr	T	A	3: 87,721,134 (GRCm39)	M1095K	probably damaging	Het
Itih4	A	T	14: 30,616,995 (GRCm39)	N517I	probably damaging	Het
Krt10	C	T	11: 99,277,819 (GRCm39)		probably null	Het
Mettl16	T	A	11: 74,683,118 (GRCm39)	F187I	probably damaging	Het
Miga2	T	C	2: 30,257,738 (GRCm39)	I12T	possibly damaging	Het
Muc5b	T	C	7: 141,418,624 (GRCm39)	Y3857H	possibly damaging	Het
Ncoa1	A	G	12: 4,317,871 (GRCm39)	S165P	probably damaging	Het
Or5bb10	A	T	19: 12,206,676 (GRCm39)	I83N	probably benign	Het
Otol1	A	G	3: 69,935,112 (GRCm39)	D368G	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Plxnb1	A	G	9: 108,934,241 (GRCm39)	D823G	probably benign	Het
Ppme1	A	G	7: 99,990,272 (GRCm39)	S226P	probably damaging	Het
Ppp4r3c1	A	G	X: 88,975,909 (GRCm39)	F96S	probably damaging	Het
Prss40	G	T	1: 34,599,960 (GRCm39)	S9*	probably null	Het
Prune2	T	C	19: 16,981,190 (GRCm39)		probably null	Het
Radx	C	T	X: 138,407,752 (GRCm39)	S364L	probably damaging	Homo
Rgl2	C	T	17: 34,156,236 (GRCm39)	R775W	probably damaging	Het
Rpp40	A	G	13: 36,082,549 (GRCm39)	C275R	probably benign	Het
Rrm2	T	C	12: 24,761,450 (GRCm39)	Y162H	probably benign	Het
Spata6l	A	T	19: 28,923,183 (GRCm39)	C80S	possibly damaging	Het
Syne1	T	C	10: 4,991,584 (GRCm39)	M8377V	probably benign	Het
Ush1c	T	C	7: 45,870,952 (GRCm39)	E276G	probably damaging	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vcan	T	A	13: 89,840,662 (GRCm39)	L1627F	probably benign	Het
Ythdc1	T	C	5: 86,964,383 (GRCm39)	I76T	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTACGGGATGGAGTCTGAAC -3'
(R):5'- TCATCTATACTTGGTGCCTCAG -3'

Sequencing Primer
(F):5'- GATGGAGTCTGAACTTCTTAGCATC -3'
(R):5'- AGTCTGACCTTCATGTGCACTGG -3'

Posted On

2015-05-15