Mutagenetix > Incidental Mutation

Incidental Mutation 'R0052:Usp12'

15348

Institutional Source

Beutler Lab

Gene Symbol

Usp12

Ensembl Gene

ENSMUSG00000029640

Gene Name

ubiquitin specific peptidase 12

Synonyms

Ubh1

MMRRC Submission

038346-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0052 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

146671619-146731816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146675914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 336 (V336A)

Ref Sequence

ENSEMBL: ENSMUSP00000082754 (fasta)

Gene Model

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

AlphaFold

Q9D9M2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085614
AA Change: V336A

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000082754
Gene: ENSMUSG00000029640
AA Change: V336A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138202

Meta Mutation Damage Score

0.6825

Coding Region Coverage

1x: 85.5%
3x: 78.2%
10x: 46.7%
20x: 12.5%

Validation Efficiency

90% (62/69)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	T	C	19: 23,893,315 (GRCm39)	S438P	possibly damaging	Het
Atosa	A	G	9: 74,926,265 (GRCm39)		probably benign	Het
Atp2a1	A	G	7: 126,057,069 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,528,790 (GRCm39)	L184Q	probably damaging	Het
Bub1	G	A	2: 127,650,959 (GRCm39)	T618I	probably benign	Het
Dsp	A	G	13: 38,381,340 (GRCm39)	D2096G	possibly damaging	Het
Eno4	A	G	19: 58,956,985 (GRCm39)	D357G	probably damaging	Het
Fcrl2	A	T	3: 87,164,085 (GRCm39)	I348N	possibly damaging	Het
Fgl2	A	T	5: 21,580,347 (GRCm39)	S230C	probably damaging	Het
Ginm1	T	A	10: 7,655,070 (GRCm39)	E57D	possibly damaging	Het
Itga9	T	A	9: 118,465,617 (GRCm39)	I157N	probably damaging	Het
Kif21a	T	C	15: 90,855,060 (GRCm39)	E700G	probably damaging	Het
Mmd	C	T	11: 90,150,824 (GRCm39)		probably benign	Het
Morn3	T	C	5: 123,184,726 (GRCm39)	Y38C	probably damaging	Het
Prex2	T	A	1: 11,230,380 (GRCm39)	L802Q	probably damaging	Het
Psd3	A	G	8: 68,335,631 (GRCm39)		probably null	Het
Ralgds	T	A	2: 28,434,400 (GRCm39)		probably null	Het
Rmdn2	A	G	17: 79,957,760 (GRCm39)	E16G	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slco3a1	A	T	7: 74,154,074 (GRCm39)	I166N	probably benign	Het
Snx5	A	T	2: 144,101,112 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,636,732 (GRCm39)	D741G	possibly damaging	Het
St8sia2	G	T	7: 73,593,038 (GRCm39)	Y339*	probably null	Het
Tdo2	T	A	3: 81,874,332 (GRCm39)	N210I	probably benign	Het
Thada	A	T	17: 84,762,586 (GRCm39)	N104K	probably damaging	Het
Timm8b	A	T	9: 50,516,330 (GRCm39)	D61V	possibly damaging	Het
Trbv12-1	T	C	6: 41,090,850 (GRCm39)	F74S	possibly damaging	Het
Tshz1	G	A	18: 84,033,070 (GRCm39)	T446I	possibly damaging	Het
Ubap2l	T	C	3: 89,946,235 (GRCm39)	N123S	possibly damaging	Het
Xrn2	T	A	2: 146,882,885 (GRCm39)		probably benign	Het
Zfp14	G	T	7: 29,737,753 (GRCm39)	Q411K	probably damaging	Het

Other mutations in Usp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01449:Usp12	APN	5	146,691,250 (GRCm39)	missense	probably benign
IGL01658:Usp12	APN	5	146,688,739 (GRCm39)	missense	probably damaging	0.99
R6894:Usp12	UTSW	5	146,691,349 (GRCm39)	missense	possibly damaging	0.49
R7076:Usp12	UTSW	5	146,674,562 (GRCm39)	missense	possibly damaging	0.78
R7167:Usp12	UTSW	5	146,705,745 (GRCm39)	critical splice donor site	probably null
R7497:Usp12	UTSW	5	146,689,264 (GRCm39)	splice site	probably null
R7538:Usp12	UTSW	5	146,731,430 (GRCm39)	missense	probably benign	0.00
R7597:Usp12	UTSW	5	146,691,179 (GRCm39)	critical splice donor site	probably null
R8308:Usp12	UTSW	5	146,688,751 (GRCm39)	missense	probably damaging	0.99
R8781:Usp12	UTSW	5	146,700,172 (GRCm39)	missense	probably benign	0.00
R8834:Usp12	UTSW	5	146,691,327 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-17