Mutagenetix > Incidental Mutations

Incidental Mutation 'R0100:Mindy2'

17916

Institutional Source

Beutler Lab

Gene Symbol

Mindy2

Ensembl Gene

ENSMUSG00000042444

Gene Name

MINDY lysine 48 deubiquitinase 2

Synonyms

B230380D07Rik, Fam63b

MMRRC Submission

038386-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R0100 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

70599014-70657174 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 70607449 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049031] [ENSMUST00000213380]

Predicted Effect

probably benign
Transcript: ENSMUST00000049031

SMART Domains

Protein: ENSMUSP00000037035
Gene: ENSMUSG00000042444

Domain	Start	End	E-Value	Type
low complexity region	22	41	N/A	INTRINSIC
low complexity region	79	86	N/A	INTRINSIC
low complexity region	126	173	N/A	INTRINSIC
low complexity region	186	195	N/A	INTRINSIC
Pfam:DUF544	250	373	6.9e-42	PFAM
low complexity region	498	508	N/A	INTRINSIC
low complexity region	535	570	N/A	INTRINSIC
low complexity region	578	595	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213380

Coding Region Coverage

1x: 90.3%
3x: 88.1%
10x: 82.7%
20x: 75.2%

Validation Efficiency

89% (68/76)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	G	7: 34,254,011	I442T	possibly damaging	Het
Agrn	A	G	4: 156,174,958	C814R	probably damaging	Het
Aoc1	T	C	6: 48,908,604	I681T	possibly damaging	Het
Atp13a4	T	C	16: 29,421,724	H793R	probably damaging	Het
Atp6v0a4	T	C	6: 38,076,815	I351V	probably benign	Het
Bbof1	T	A	12: 84,411,055	D31E	probably benign	Het
Cpxm2	T	A	7: 132,054,871	H554L	possibly damaging	Het
Ddx55	C	T	5: 124,556,782	T91I	probably damaging	Het
Dhx57	T	C	17: 80,275,156	D340G	possibly damaging	Het
Dnah1	C	T	14: 31,262,152		probably null	Het
Dpp9	C	T	17: 56,205,854	G118D	possibly damaging	Het
Etl4	T	C	2: 20,339,905	S4P	probably benign	Het
Fat4	A	C	3: 38,980,248	N2683T	probably damaging	Het
Gabrb2	A	G	11: 42,487,314	D119G	probably damaging	Het
Greb1	T	A	12: 16,680,224	Q1734L	probably benign	Het
Gtf2ird2	T	C	5: 134,217,015	L705P	probably damaging	Het
H13	T	A	2: 152,689,863		probably null	Het
Hgs	T	G	11: 120,482,852	Y708D	possibly damaging	Het
Hip1	T	C	5: 135,436,453	D367G	probably benign	Het
Ift140	C	T	17: 25,090,954	Q1112*	probably null	Het
Il17b	A	G	18: 61,690,271	M59V	probably benign	Het
Lpin3	T	C	2: 160,905,340	Y829H	probably damaging	Het
Lrrk2	A	T	15: 91,745,796	N1230I	probably damaging	Het
Nup210	T	G	6: 91,069,193	E586A	probably benign	Het
Olfr1105	T	C	2: 87,033,595	T209A	probably benign	Het
Olfr1344	C	T	7: 6,440,400	R167C	probably damaging	Het
Olfr346	A	T	2: 36,688,911	N303I	probably benign	Het
Osgepl1	A	G	1: 53,323,213	I405V	probably damaging	Het
Pdcd11	T	C	19: 47,102,666	S360P	probably benign	Het
Plekha6	T	C	1: 133,270,177	S271P	probably damaging	Het
Plekhs1	A	G	19: 56,478,502	E255G	probably damaging	Het
Pram1	T	A	17: 33,641,399	N313K	possibly damaging	Het
Rapgef5	C	T	12: 117,721,299	S261L	probably benign	Het
Spint5	T	A	2: 164,717,000	C49S	probably damaging	Het
Tex22	T	A	12: 113,088,772	I150N	probably benign	Het
Thoc6	A	T	17: 23,669,850	W195R	probably damaging	Het
Tmem106a	T	C	11: 101,586,258	S98P	probably benign	Het
Tnfrsf18	A	G	4: 156,028,366	T170A	probably benign	Het
Tor1aip1	A	T	1: 156,007,075	D342E	probably damaging	Het
Trav7-6	T	C	14: 53,717,072	S20P	probably damaging	Het
Trpc6	C	T	9: 8,653,034	P614S	probably damaging	Het
Washc5	A	G	15: 59,344,098	F811L	possibly damaging	Het

Other mutations in Mindy2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00767:Mindy2	APN	9	70634003	critical splice donor site	probably null
IGL00770:Mindy2	APN	9	70631033	missense	probably benign	0.05
IGL00774:Mindy2	APN	9	70631033	missense	probably benign	0.05
IGL01889:Mindy2	APN	9	70631162	splice site	probably benign
IGL02860:Mindy2	APN	9	70656544	missense	probably damaging	1.00
R0563:Mindy2	UTSW	9	70631052	missense	possibly damaging	0.77
R1109:Mindy2	UTSW	9	70631079	nonsense	probably null
R1446:Mindy2	UTSW	9	70607456	critical splice donor site	probably null
R1736:Mindy2	UTSW	9	70631030	missense	probably damaging	1.00
R2156:Mindy2	UTSW	9	70656592	missense	probably benign	0.01
R4091:Mindy2	UTSW	9	70634060	missense	probably damaging	0.98
R4290:Mindy2	UTSW	9	70631094	missense	probably damaging	1.00
R4626:Mindy2	UTSW	9	70626781	missense	probably damaging	1.00
R4791:Mindy2	UTSW	9	70634001	splice site	probably null
R4973:Mindy2	UTSW	9	70605171	missense	possibly damaging	0.86
R6077:Mindy2	UTSW	9	70631081	missense	probably damaging	1.00
R6237:Mindy2	UTSW	9	70605198	missense	possibly damaging	0.72
R6872:Mindy2	UTSW	9	70616762	critical splice donor site	probably null
R7307:Mindy2	UTSW	9	70610959	missense	possibly damaging	0.89
R7521:Mindy2	UTSW	9	70607510	missense	probably benign	0.18
R7638:Mindy2	UTSW	9	70616859	missense	probably damaging	1.00

Posted On

2013-03-25