Mutagenetix > Incidental Mutation

Incidental Mutation 'R0100:Mindy2'

17916

Institutional Source

Beutler Lab

Gene Symbol

Mindy2

Ensembl Gene

ENSMUSG00000042444

Gene Name

MINDY lysine 48 deubiquitinase 2

Synonyms

Fam63b, B230380D07Rik

MMRRC Submission

038386-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R0100 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

70506296-70564456 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 70514731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150300 (fasta)

Gene Model

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

AlphaFold

Q6PDI6

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
Agrn	A	G	4: 156,259,415 (GRCm39)	C814R	probably damaging	Het
Aoc1	T	C	6: 48,885,538 (GRCm39)	I681T	possibly damaging	Het
Atp13a4	T	C	16: 29,240,542 (GRCm39)	H793R	probably damaging	Het
Atp6v0a4	T	C	6: 38,053,750 (GRCm39)	I351V	probably benign	Het
Bbof1	T	A	12: 84,457,829 (GRCm39)	D31E	probably benign	Het
Cpxm2	T	A	7: 131,656,600 (GRCm39)	H554L	possibly damaging	Het
Ddx55	C	T	5: 124,694,845 (GRCm39)	T91I	probably damaging	Het
Dhx57	T	C	17: 80,582,585 (GRCm39)	D340G	possibly damaging	Het
Dnah1	C	T	14: 30,984,109 (GRCm39)		probably null	Het
Dpp9	C	T	17: 56,512,854 (GRCm39)	G118D	possibly damaging	Het
Etl4	T	C	2: 20,344,716 (GRCm39)	S4P	probably benign	Het
Fat4	A	C	3: 39,034,397 (GRCm39)	N2683T	probably damaging	Het
Gabrb2	A	G	11: 42,378,141 (GRCm39)	D119G	probably damaging	Het
Garre1	A	G	7: 33,953,436 (GRCm39)	I442T	possibly damaging	Het
Greb1	T	A	12: 16,730,225 (GRCm39)	Q1734L	probably benign	Het
Gtf2ird2	T	C	5: 134,245,857 (GRCm39)	L705P	probably damaging	Het
H13	T	A	2: 152,531,783 (GRCm39)		probably null	Het
Hgs	T	G	11: 120,373,678 (GRCm39)	Y708D	possibly damaging	Het
Hip1	T	C	5: 135,465,307 (GRCm39)	D367G	probably benign	Het
Ift140	C	T	17: 25,309,928 (GRCm39)	Q1112*	probably null	Het
Il17b	A	G	18: 61,823,342 (GRCm39)	M59V	probably benign	Het
Lpin3	T	C	2: 160,747,260 (GRCm39)	Y829H	probably damaging	Het
Lrrk2	A	T	15: 91,629,999 (GRCm39)	N1230I	probably damaging	Het
Nup210	T	G	6: 91,046,175 (GRCm39)	E586A	probably benign	Het
Or1j17	A	T	2: 36,578,923 (GRCm39)	N303I	probably benign	Het
Or2bd2	C	T	7: 6,443,399 (GRCm39)	R167C	probably damaging	Het
Or5be3	T	C	2: 86,863,939 (GRCm39)	T209A	probably benign	Het
Osgepl1	A	G	1: 53,362,372 (GRCm39)	I405V	probably damaging	Het
Pdcd11	T	C	19: 47,091,105 (GRCm39)	S360P	probably benign	Het
Plekha6	T	C	1: 133,197,915 (GRCm39)	S271P	probably damaging	Het
Plekhs1	A	G	19: 56,466,934 (GRCm39)	E255G	probably damaging	Het
Pram1	T	A	17: 33,860,373 (GRCm39)	N313K	possibly damaging	Het
Rapgef5	C	T	12: 117,685,034 (GRCm39)	S261L	probably benign	Het
Spint5	T	A	2: 164,558,920 (GRCm39)	C49S	probably damaging	Het
Tex22	T	A	12: 113,052,392 (GRCm39)	I150N	probably benign	Het
Thoc6	A	T	17: 23,888,824 (GRCm39)	W195R	probably damaging	Het
Tmem106a	T	C	11: 101,477,084 (GRCm39)	S98P	probably benign	Het
Tnfrsf18	A	G	4: 156,112,823 (GRCm39)	T170A	probably benign	Het
Tor1aip1	A	T	1: 155,882,821 (GRCm39)	D342E	probably damaging	Het
Trav7-6	T	C	14: 53,954,529 (GRCm39)	S20P	probably damaging	Het
Trpc6	C	T	9: 8,653,035 (GRCm39)	P614S	probably damaging	Het
Washc5	A	G	15: 59,215,947 (GRCm39)	F811L	possibly damaging	Het

Other mutations in Mindy2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00767:Mindy2	APN	9	70,541,285 (GRCm39)	critical splice donor site	probably null
IGL00770:Mindy2	APN	9	70,538,315 (GRCm39)	missense	probably benign	0.05
IGL00774:Mindy2	APN	9	70,538,315 (GRCm39)	missense	probably benign	0.05
IGL01889:Mindy2	APN	9	70,538,444 (GRCm39)	splice site	probably benign
IGL02860:Mindy2	APN	9	70,563,826 (GRCm39)	missense	probably damaging	1.00
R0563:Mindy2	UTSW	9	70,538,334 (GRCm39)	missense	possibly damaging	0.77
R1109:Mindy2	UTSW	9	70,538,361 (GRCm39)	nonsense	probably null
R1446:Mindy2	UTSW	9	70,514,738 (GRCm39)	critical splice donor site	probably null
R1736:Mindy2	UTSW	9	70,538,312 (GRCm39)	missense	probably damaging	1.00
R2156:Mindy2	UTSW	9	70,563,874 (GRCm39)	missense	probably benign	0.01
R4091:Mindy2	UTSW	9	70,541,342 (GRCm39)	missense	probably damaging	0.98
R4290:Mindy2	UTSW	9	70,538,376 (GRCm39)	missense	probably damaging	1.00
R4626:Mindy2	UTSW	9	70,534,063 (GRCm39)	missense	probably damaging	1.00
R4791:Mindy2	UTSW	9	70,541,283 (GRCm39)	splice site	probably null
R4973:Mindy2	UTSW	9	70,512,453 (GRCm39)	missense	possibly damaging	0.86
R6077:Mindy2	UTSW	9	70,538,363 (GRCm39)	missense	probably damaging	1.00
R6237:Mindy2	UTSW	9	70,512,480 (GRCm39)	missense	possibly damaging	0.72
R6872:Mindy2	UTSW	9	70,524,044 (GRCm39)	critical splice donor site	probably null
R7307:Mindy2	UTSW	9	70,518,241 (GRCm39)	missense	possibly damaging	0.89
R7521:Mindy2	UTSW	9	70,514,792 (GRCm39)	missense	probably benign	0.18
R7638:Mindy2	UTSW	9	70,524,141 (GRCm39)	missense	probably damaging	1.00
R9541:Mindy2	UTSW	9	70,512,508 (GRCm39)	missense	possibly damaging	0.91

Posted On

2013-03-25