Mutagenetix > Incidental Mutation

Incidental Mutation 'R8268:Uchl4'

639544

Institutional Source

Beutler Lab

Gene Symbol

Uchl4

Ensembl Gene

ENSMUSG00000035337

Gene Name

ubiquitin carboxyl-terminal esterase L4

Synonyms

MMRRC Submission

067692-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64142483-64143644 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64142791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 91 (I91F)

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 damaging
Transcript: ENSMUST00000039011
AA Change: I91F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045208
Gene: ENSMUSG00000035337
AA Change: I91F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	A	T	8: 71,909,961 (GRCm39)	C396S	probably benign	Het
Ccpg1	G	A	9: 72,913,001 (GRCm39)	R179H	probably damaging	Het
Ciapin1	A	G	8: 95,558,511 (GRCm39)	V67A	probably benign	Het
Col7a1	A	G	9: 108,802,057 (GRCm39)	R2018G	unknown	Het
Dnah11	A	T	12: 117,991,243 (GRCm39)	Y2374*	probably null	Het
Dnah7b	G	T	1: 46,395,736 (GRCm39)	M3879I	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Gm12258	A	C	11: 58,745,084 (GRCm39)		probably null	Het
Hpse	A	G	5: 100,846,907 (GRCm39)	L174S	probably damaging	Het
Hspa8	A	G	9: 40,714,448 (GRCm39)	K248R	probably damaging	Het
Kcnt2	A	C	1: 140,450,954 (GRCm39)	R744S	probably damaging	Het
Klhl32	G	A	4: 24,800,843 (GRCm39)		probably benign	Het
Mkrn3	A	G	7: 62,068,270 (GRCm39)	L507P	probably damaging	Het
Myom2	T	G	8: 15,179,157 (GRCm39)	F1330V	probably damaging	Het
Nr1d2	A	G	14: 18,216,659 (GRCm38)	S170P	probably damaging	Het
Nt5dc1	T	C	10: 34,186,407 (GRCm39)	D388G	probably damaging	Het
Or12e9	C	A	2: 87,202,332 (GRCm39)	A152E	probably damaging	Het
Or13a17	A	G	7: 140,271,430 (GRCm39)	D204G	probably damaging	Het
Or4a68	T	C	2: 89,269,780 (GRCm39)	N281S	probably damaging	Het
Or7a36	T	A	10: 78,819,831 (GRCm39)	V69E	probably damaging	Het
Pigg	T	A	5: 108,486,509 (GRCm39)	S721T	probably damaging	Het
Prr5	T	C	15: 84,587,192 (GRCm39)	L323P	probably benign	Het
Rapgef2	T	A	3: 78,993,263 (GRCm39)	I742L	probably benign	Het
Rxrb	A	G	17: 34,254,750 (GRCm39)	S302G	probably benign	Het
Setd5	T	G	6: 113,126,651 (GRCm39)		probably null	Het
Sh3bgr	A	G	16: 96,025,674 (GRCm39)	T187A	unknown	Het
Sh3pxd2a	C	T	19: 47,256,033 (GRCm39)	R923H	probably benign	Het
Slc26a10	A	G	10: 127,009,491 (GRCm39)		probably null	Het
Slc9a1	T	A	4: 133,097,934 (GRCm39)	V27E	probably benign	Het
Stard3nl	A	G	13: 19,560,629 (GRCm39)	S49P	probably damaging	Het
Stxbp2	G	A	8: 3,682,234 (GRCm39)	V17I		Het
Themis3	C	T	17: 66,862,786 (GRCm39)	E391K	probably benign	Het
Tia1	A	G	6: 86,404,996 (GRCm39)		probably benign	Het
Tmem167	T	C	13: 90,252,554 (GRCm39)	F70S	probably damaging	Het
Trpm6	C	A	19: 18,851,225 (GRCm39)	Q1729K	possibly damaging	Het
Tsc2	A	C	17: 24,818,984 (GRCm39)	L1285W	probably benign	Het
Wdfy3	C	T	5: 102,089,476 (GRCm39)	A573T	probably damaging	Het
Zc2hc1c	C	T	12: 85,336,595 (GRCm39)	S84F	probably benign	Het
Zfp143	A	G	7: 109,690,991 (GRCm39)	D515G	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
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
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'- ATTAGGCCTGCATCCTAACTGG -3'
(R):5'- TGTGCACTGGTTTCATGAGTAAC -3'

Sequencing Primer
(F):5'- GCATCCTAACTGGCAGTTTG -3'
(R):5'- ACTCGAATAGCGTCATAGTTCTCCAG -3'

Posted On

2020-07-28