Mutagenetix > Incidental Mutations

Incidental Mutation 'R7076:Usp12'

549209

Institutional Source

Beutler Lab

Gene Symbol

Usp12

Ensembl Gene

ENSMUSG00000029640

Gene Name

ubiquitin specific peptidase 12

Synonyms

Ubh1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146734809-146795006 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146737752 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 347 (F347S)

Ref Sequence

ENSEMBL: ENSMUSP00000082754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085614]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085614
AA Change: F347S

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000082754
Gene: ENSMUSG00000029640
AA Change: F347S

Domain	Start	End	E-Value	Type
Pfam:UCH	38	366	2.8e-67	PFAM
Pfam:UCH_1	39	339	6.6e-37	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	G	8: 55,871,659	C587R	probably damaging	Het
Adgrg7	T	C	16: 56,742,406	T523A	probably damaging	Het
Arrdc3	A	T	13: 80,890,696	K259M	probably damaging	Het
Becn1	A	T	11: 101,295,324	N151K	probably benign	Het
Cars2	C	T	8: 11,529,649	E270K	probably damaging	Het
Ccp110	C	A	7: 118,732,405	P943Q	probably damaging	Het
Ccser2	A	G	14: 36,939,829	I466T	probably benign	Het
Cd164	A	G	10: 41,523,197	E94G	probably benign	Het
Cdon	C	T	9: 35,504,150	T1228I	probably benign	Het
Cubn	C	A	2: 13,306,280	V3145L	probably benign	Het
Cubn	T	A	2: 13,306,281	K3144N	probably benign	Het
Dchs1	A	G	7: 105,761,871	V1649A	probably benign	Het
Dgka	A	T	10: 128,733,583	D153E	probably damaging	Het
Dip2b	A	G	15: 100,157,972		probably null	Het
Dnajc21	T	C	15: 10,449,631	T435A	probably benign	Het
F830016B08Rik	A	T	18: 60,300,471	I209F	probably damaging	Het
Ghdc	C	A	11: 100,769,714	S111I	possibly damaging	Het
Gm19965	T	C	1: 116,821,275	C229R		Het
Gpm6a	C	T	8: 55,037,451	T54I	probably damaging	Het
Gpr171	G	T	3: 59,098,156	A66E	probably damaging	Het
Grm7	A	G	6: 111,358,152	D508G	probably benign	Het
Has1	G	A	17: 17,843,806	R524C	probably damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ighv3-8	A	T	12: 114,322,782	L7Q	probably damaging	Het
Ints10	A	T	8: 68,796,751	R78*	probably null	Het
Itpr1	A	G	6: 108,388,296	I903V	probably benign	Het
Lrp1	A	G	10: 127,550,183		probably null	Het
Mki67	A	G	7: 135,705,629	V132A	probably damaging	Het
Myh4	A	G	11: 67,253,173	E1123G	possibly damaging	Het
Neurog3	A	G	10: 62,133,580	T40A	probably benign	Het
Nipsnap3b	T	A	4: 53,021,095		probably null	Het
Nr4a3	G	A	4: 48,055,957	V328I	probably damaging	Het
Olfr1489	G	T	19: 13,633,880	M256I	possibly damaging	Het
Olfr313	G	A	11: 58,817,164	R52Q	probably benign	Het
Olfr487	A	T	7: 108,211,998	V177D	probably damaging	Het
Olfr654	A	T	7: 104,588,223	S140C	probably damaging	Het
Olfr716	T	C	7: 107,148,029	F238L	probably damaging	Het
Olfr743	T	A	14: 50,533,821	Y136*	probably null	Het
Osbpl5	A	G	7: 143,709,840	L102P	probably benign	Het
Ppl	C	T	16: 5,100,119	R503Q	probably damaging	Het
Ppp2r2d	T	C	7: 138,876,597	M321T	possibly damaging	Het
Prex1	T	C	2: 166,633,382	Y197C	probably damaging	Het
Prss32	A	G	17: 23,853,921	D42G	possibly damaging	Het
Ralgapa1	T	C	12: 55,721,576	E1210G	possibly damaging	Het
Sdr16c5	A	G	4: 4,006,591	C234R	probably damaging	Het
Slc23a4	A	G	6: 34,956,884	S95P	probably damaging	Het
Srp14	T	C	2: 118,479,390	T29A	probably damaging	Het
Tet2	T	A	3: 133,467,023	H1826L	possibly damaging	Het
Tfr2	A	T	5: 137,583,574	Y641F	probably damaging	Het
Tmco5b	A	G	2: 113,287,421	N27D	probably damaging	Het
Tvp23a	T	C	16: 10,428,735	D62G	probably benign	Het
Zfp407	A	T	18: 84,558,476	L1504Q	probably damaging	Het
Zfp524	A	G	7: 5,017,896	D141G	possibly damaging	Het
Zfp68	A	G	5: 138,606,939	I374T	possibly damaging	Het
Zfp758	C	T	17: 22,375,156	H208Y	probably benign	Het
Zfp804b	T	C	5: 6,769,751	H1104R	probably benign	Het
Znrf2	T	A	6: 54,842,695	*75K	probably null	Het
Zzef1	T	C	11: 72,899,559	V2113A	probably benign	Het

Other mutations in Usp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01449:Usp12	APN	5	146754440	missense	probably benign
IGL01658:Usp12	APN	5	146751929	missense	probably damaging	0.99
R0052:Usp12	UTSW	5	146739104	missense	possibly damaging	0.72
R6894:Usp12	UTSW	5	146754539	missense	possibly damaging	0.49
R7167:Usp12	UTSW	5	146768935	critical splice donor site	probably null
R7497:Usp12	UTSW	5	146752454	splice site	probably null
R7538:Usp12	UTSW	5	146794620	missense	probably benign	0.00
R7597:Usp12	UTSW	5	146754369	critical splice donor site	probably null
R8308:Usp12	UTSW	5	146751941	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCAAAGTGAGCTACTGCCC -3'
(R):5'- ACCTGTTGTTCAAGGTGTTTCC -3'

Sequencing Primer
(F):5'- AAAGTGAGCTACTGCCCTGAGC -3'
(R):5'- AGGTGTTTCCTACCAGACTTCTC -3'

Posted On

2019-05-15