Mutagenetix > Incidental Mutation

Incidental Mutation 'R8834:Usp12'

674027

Institutional Source

Beutler Lab

Gene Symbol

Usp12

Ensembl Gene

ENSMUSG00000029640

Gene Name

ubiquitin specific peptidase 12

Synonyms

Ubh1

MMRRC Submission

068662-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8834 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146671619-146731816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146691327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 142 (E142D)

Ref Sequence

ENSEMBL: ENSMUSP00000082754 (fasta)

Gene Model

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

AlphaFold

Q9D9M2

Predicted Effect

probably benign
Transcript: ENSMUST00000085614
AA Change: E142D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000082754
Gene: ENSMUSG00000029640
AA Change: E142D

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

Meta Mutation Damage Score

0.0738

Coding Region Coverage

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

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,877,372 (GRCm39)	T1007A	probably benign	Het
Adcy6	A	G	15: 98,498,922 (GRCm39)	L293P	possibly damaging	Het
Cacna2d1	T	A	5: 16,471,735 (GRCm39)	V260E	possibly damaging	Het
Capn3	T	A	2: 120,294,534 (GRCm39)	F61I	probably damaging	Het
Cdh9	A	G	15: 16,850,964 (GRCm39)	S578G	probably damaging	Het
Cog4	A	G	8: 111,608,049 (GRCm39)	Y714C	probably damaging	Het
Dnah14	T	G	1: 181,444,315 (GRCm39)	F542V	possibly damaging	Het
Dock8	T	C	19: 25,140,834 (GRCm39)	V1350A	probably benign	Het
Eps8	A	G	6: 137,504,306 (GRCm39)		probably benign	Het
Fat3	C	T	9: 15,942,493 (GRCm39)	G1293E	probably damaging	Het
Fnip1	T	C	11: 54,395,581 (GRCm39)	V985A	possibly damaging	Het
Frem1	T	C	4: 82,922,610 (GRCm39)	D397G	probably damaging	Het
Gan	C	G	8: 117,885,031 (GRCm39)	P53R		Het
Gcc2	T	C	10: 58,121,867 (GRCm39)		probably null	Het
Glb1l2	C	T	9: 26,689,314 (GRCm39)		probably null	Het
Gm973	T	C	1: 59,563,820 (GRCm39)	F2L		Het
Heatr5a	A	G	12: 51,956,739 (GRCm39)		probably null	Het
Kifc2	T	A	15: 76,551,250 (GRCm39)	H681Q	probably damaging	Het
Krt16	T	A	11: 100,139,236 (GRCm39)	S161C	probably damaging	Het
Lrrc3b	A	G	14: 15,358,562 (GRCm38)	C15R	possibly damaging	Het
Lrrc66	C	G	5: 73,765,928 (GRCm39)	A372P	possibly damaging	Het
Ly75	C	T	2: 60,161,433 (GRCm39)	R884H	probably benign	Het
Map2k6	T	A	11: 110,383,419 (GRCm39)	C109*	probably null	Het
Mapk9	C	T	11: 49,774,010 (GRCm39)	S389L	probably damaging	Het
Mier2	C	T	10: 79,386,293 (GRCm39)	G57D	unknown	Het
Mis18bp1	A	T	12: 65,208,419 (GRCm39)	M98K	probably benign	Het
Mrtfa	A	G	15: 80,904,511 (GRCm39)	L196P	probably benign	Het
Or1e17	T	C	11: 73,831,164 (GRCm39)	F31L	possibly damaging	Het
Pcsk7	A	G	9: 45,830,589 (GRCm39)	S456G	possibly damaging	Het
Phf12	T	A	11: 77,897,608 (GRCm39)	C102S	probably damaging	Het
Ppm1k	A	G	6: 57,502,023 (GRCm39)	C47R	probably benign	Het
Rgs10	A	G	7: 127,990,809 (GRCm39)	I93T	probably damaging	Het
Ror2	CCCTCCTCCTCCTCCTC	CCCTCCTCCTCCTC	13: 53,264,338 (GRCm39)		probably benign	Het
Rusc2	T	A	4: 43,416,431 (GRCm39)	F579Y	possibly damaging	Het
Selplg	G	A	5: 113,957,691 (GRCm39)	S205L	possibly damaging	Het
Sh3gl3	T	C	7: 81,955,999 (GRCm39)	V109A	possibly damaging	Het
Tanc2	T	C	11: 105,807,845 (GRCm39)	S336P		Het
Tlr2	C	A	3: 83,746,020 (GRCm39)	R21L	probably benign	Het
Trpa1	C	T	1: 14,963,528 (GRCm39)	V565I	possibly damaging	Het
Ubqln1	A	T	13: 58,331,058 (GRCm39)	S390T	probably damaging	Het
Ubr3	T	C	2: 69,833,785 (GRCm39)	V1514A	probably benign	Het
Uchl5	A	T	1: 143,661,968 (GRCm39)	K81*	probably null	Het
Unc13b	T	C	4: 43,175,954 (GRCm39)	F2261L	unknown	Het
V1ra8	A	T	6: 90,180,622 (GRCm39)	D275V	unknown	Het
Zfp804a	A	G	2: 82,089,441 (GRCm39)	H1090R	possibly 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
R0052:Usp12	UTSW	5	146,675,914 (GRCm39)	missense	possibly damaging	0.72
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

Predicted Primers

PCR Primer
(F):5'- CTTCAGACGGACAGCTATGC -3'
(R):5'- TTCCCTCTGCATCAGTCAGAAG -3'

Sequencing Primer
(F):5'- CAGCTATGCGGATGGACTTAC -3'
(R):5'- CTGCATCAGTCAGAAGTTCAGATGC -3'

Posted On

2021-07-15