Mutagenetix > Incidental Mutation

Incidental Mutation 'R8308:Usp12'

641186

Institutional Source

Beutler Lab

Gene Symbol

Usp12

Ensembl Gene

ENSMUSG00000029640

Gene Name

ubiquitin specific peptidase 12

Synonyms

Ubh1

MMRRC Submission

067793-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146671619-146731816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146688751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 201 (D201G)

Ref Sequence

ENSEMBL: ENSMUSP00000082754 (fasta)

Gene Model

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

AlphaFold

Q9D9M2

Predicted Effect

probably damaging
Transcript: ENSMUST00000085614
AA Change: D201G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082754
Gene: ENSMUSG00000029640
AA Change: D201G

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

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,659,570 (GRCm39)	D341G	probably damaging	Het
Abca17	T	C	17: 24,486,657 (GRCm39)	T1457A	probably damaging	Het
Acot8	A	T	2: 164,646,663 (GRCm39)	S25R	probably benign	Het
Ap2a2	T	C	7: 141,210,212 (GRCm39)	V850A	probably benign	Het
Baiap2l1	T	A	5: 144,214,487 (GRCm39)	E402D	probably benign	Het
Bptf	T	C	11: 106,943,815 (GRCm39)	K2689E	probably damaging	Het
Cdh22	C	A	2: 164,954,098 (GRCm39)	D808Y	probably damaging	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Cipc	A	G	12: 87,008,809 (GRCm39)	T223A	probably benign	Het
Crem	G	T	18: 3,295,397 (GRCm39)	T57K	possibly damaging	Het
Cyp17a1	T	A	19: 46,656,516 (GRCm39)	I393F	probably benign	Het
Dgcr2	C	T	16: 17,676,242 (GRCm39)	G176D	probably benign	Het
Dock3	C	A	9: 106,790,371 (GRCm39)	V1451L	probably benign	Het
Dsg2	C	T	18: 20,708,121 (GRCm39)	P74L	probably benign	Het
Ece1	T	C	4: 137,664,075 (GRCm39)	V224A	probably damaging	Het
Flg	A	T	3: 93,190,586 (GRCm39)	S152C	unknown	Het
Gcsam	A	T	16: 45,430,902 (GRCm39)	N3I	probably damaging	Het
Gm10188	C	T	1: 132,157,310 (GRCm39)	V19I	unknown	Het
Gpr27	T	C	6: 99,670,217 (GRCm39)	L193P	probably damaging	Het
Grin2b	A	T	6: 135,900,074 (GRCm39)	V269E	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Kif14	A	G	1: 136,443,651 (GRCm39)	I1275V	possibly damaging	Het
Krt27	T	C	11: 99,239,862 (GRCm39)	E234G	probably benign	Het
Lmo7	T	C	14: 102,139,807 (GRCm39)		probably null	Het
Matk	T	G	10: 81,094,121 (GRCm39)	S18A	probably benign	Het
Mbd3l1	A	G	9: 18,395,886 (GRCm39)	T4A	probably benign	Het
Mettl23	G	A	11: 116,739,185 (GRCm39)		probably null	Het
Ncam1	A	T	9: 49,479,817 (GRCm39)	W54R	probably damaging	Het
Olfm5	A	G	7: 103,803,606 (GRCm39)	Y286H	probably damaging	Het
Or10d5j	T	A	9: 39,868,265 (GRCm39)	M1L	probably benign	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or4q3	T	C	14: 50,582,922 (GRCm39)	I326V	probably benign	Het
Or5ac15	C	T	16: 58,939,899 (GRCm39)	C178Y	probably damaging	Het
Pmch	A	G	10: 87,927,614 (GRCm39)	Y105C	probably damaging	Het
Prg3	A	G	2: 84,819,676 (GRCm39)	T57A	probably benign	Het
Ptpn13	A	G	5: 103,688,838 (GRCm39)	E877G	probably damaging	Het
Ptprt	A	G	2: 161,769,566 (GRCm39)	V433A	probably benign	Het
Rufy1	A	T	11: 50,297,233 (GRCm39)	D406E	probably benign	Het
Scara5	C	T	14: 65,927,234 (GRCm39)	R44W	probably damaging	Het
Scg2	T	G	1: 79,414,576 (GRCm39)	K49T	probably benign	Het
Slc40a1	A	G	1: 45,950,180 (GRCm39)	I424T	probably benign	Het
Slc4a8	T	A	15: 100,693,735 (GRCm39)	S479T	probably damaging	Het
Sorl1	T	C	9: 41,929,456 (GRCm39)	D1139G	probably damaging	Het
Srcap	A	G	7: 127,152,353 (GRCm39)	I2206V	possibly damaging	Het
Tpk1	T	C	6: 43,642,711 (GRCm39)	E9G	probably benign	Het
Ttn	C	T	2: 76,642,645 (GRCm39)	V13297I	possibly damaging	Het
Uchl3	T	C	14: 101,932,655 (GRCm39)		probably null	Het
Vmn1r193	C	T	13: 22,403,146 (GRCm39)	R282H	probably benign	Het
Vmn2r104	T	C	17: 20,261,040 (GRCm39)	D461G	possibly damaging	Het
Zfp131	A	G	13: 120,244,440 (GRCm39)	M80T	possibly damaging	Het
Zfp457	A	G	13: 67,441,663 (GRCm39)	L304P	probably benign	Het
Zswim3	A	G	2: 164,663,566 (GRCm39)	E682G	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGTTACTGAACCCTCTGTG -3'
(R):5'- GACACTGTGTACTCCCTGTG -3'

Sequencing Primer
(F):5'- GTGTTACTGAACCCTCTGTGAAAAAC -3'
(R):5'- GGGTGTCTTCCCATCCAGGAG -3'

Posted On

2020-07-28