Mutagenetix > Incidental Mutations

Incidental Mutation 'R4626:Mindy2'

348789

Institutional Source

Beutler Lab

Gene Symbol

Mindy2

Ensembl Gene

ENSMUSG00000042444

Gene Name

MINDY lysine 48 deubiquitinase 2

Synonyms

B230380D07Rik, Fam63b

MMRRC Submission

041891-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R4626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70599014-70657174 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70626781 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 378 (S378L)

Ref Sequence

ENSEMBL: ENSMUSP00000150300 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000049031
AA Change: S378L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000037035
Gene: ENSMUSG00000042444
AA Change: S378L

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 damaging
Transcript: ENSMUST00000213380
AA Change: S378L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214293

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	A	C	11: 84,422,958	*527G	probably null	Het
Abca17	A	T	17: 24,321,084	I390N	probably damaging	Het
Adamts18	C	T	8: 113,773,168	W371*	probably null	Het
Akr1c13	G	T	13: 4,197,870	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ankrd49	A	C	9: 14,782,640	L77R	probably damaging	Het
Ap3b1	T	A	13: 94,404,078	N169K	possibly damaging	Het
Arhgap39	A	C	15: 76,737,637	F255V	possibly damaging	Het
Atp1a3	T	A	7: 24,998,768	N171I	possibly damaging	Het
Atp9a	T	C	2: 168,639,943	D953G	probably damaging	Het
Atxn1	T	C	13: 45,567,099	Y440C	probably damaging	Het
Bccip	T	C	7: 133,720,728	Y268H	possibly damaging	Het
Brms1l	C	A	12: 55,863,173	P243T	probably benign	Het
Btbd10	T	C	7: 113,328,398	E250G	probably damaging	Het
Cacna1e	T	C	1: 154,482,548		probably null	Het
Cfhr2	A	T	1: 139,813,576	N220K	probably damaging	Het
Csnk1g2	C	A	10: 80,639,814	A405E	probably damaging	Het
D5Ertd579e	T	C	5: 36,614,559	I831V	possibly damaging	Het
F2	T	A	2: 91,630,670	N239I	probably benign	Het
Fbln5	T	A	12: 101,760,827	D301V	probably damaging	Het
Fbn2	A	T	18: 58,013,747	C2692*	probably null	Het
Fhdc1	C	T	3: 84,474,250	D34N	probably damaging	Het
Galnt13	T	A	2: 54,857,866	M253K	probably damaging	Het
Gm11127	CTGGGTG	CTG	17: 36,057,896		probably null	Het
Gpc6	C	A	14: 117,964,843	Y488*	probably null	Het
Grm5	G	T	7: 88,130,153	G934C	probably damaging	Het
Gys1	T	C	7: 45,439,534	L119S	probably damaging	Het
Htra4	T	C	8: 25,037,114	N222D	probably benign	Het
Iba57	A	G	11: 59,158,461	V294A	probably benign	Het
Kctd21	A	G	7: 97,347,575	D85G	probably damaging	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Lama5	G	A	2: 180,184,460	T2330M	probably damaging	Het
Lrguk	G	A	6: 34,129,223	E728K	probably benign	Het
Mcm6	T	C	1: 128,351,548	D167G	probably benign	Het
Mettl18	T	A	1: 163,996,476	V122E	probably damaging	Het
Mis18bp1	G	T	12: 65,140,766	F854L	probably damaging	Het
Mtdh	C	T	15: 34,114,834	R106*	probably null	Het
Nup214	T	A	2: 32,033,404	V1315E	possibly damaging	Het
Nupl1	A	G	14: 60,238,555	V271A	probably benign	Het
Olfr1188	T	C	2: 88,559,832	V121A	possibly damaging	Het
Olfr3	A	G	2: 36,812,259	Y278H	probably damaging	Het
Olfr523	T	C	7: 140,176,446	S109P	probably damaging	Het
Orc5	G	T	5: 22,548,005	F10L	probably benign	Het
Pcdha11	A	T	18: 37,006,998	N560I	probably damaging	Het
Pcdhb9	T	A	18: 37,402,249	F432Y	probably benign	Het
Peg10	GGATCC	GGATCCCCATCAAGATCC	6: 4,756,460		probably benign	Het
Poll	C	A	19: 45,555,124	M385I	probably benign	Het
Pomt1	A	G	2: 32,254,412	K737E	possibly damaging	Het
Prr16	C	T	18: 51,302,839	T130I	probably damaging	Het
Ptpn18	A	G	1: 34,471,792		probably null	Het
Ranbp6	A	T	19: 29,810,863	Y696*	probably null	Het
Rmi1	A	G	13: 58,409,136	R400G	probably benign	Het
Scn10a	A	G	9: 119,631,505	I1101T	possibly damaging	Het
Slc22a22	T	C	15: 57,263,338	T93A	probably damaging	Het
Snx10	A	G	6: 51,588,290	D129G	probably damaging	Het
Stub1	A	G	17: 25,831,871		probably null	Het
Tfr2	T	C	5: 137,571,692	V120A	probably benign	Het
Trmu	T	C	15: 85,894,985	Y278H	possibly damaging	Het
Ugt2b36	A	C	5: 87,092,088	F146C	probably damaging	Het
Vav2	T	C	2: 27,270,160	I692V	possibly damaging	Het
Wdfy3	A	G	5: 101,943,934	L513P	probably damaging	Het
Zfhx4	T	A	3: 5,402,639	V2619D	probably damaging	Het
Zfyve26	T	A	12: 79,269,070	N1211Y	possibly damaging	Het
Zp3r	A	G	1: 130,615,175	F142L	probably 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
R0100:Mindy2	UTSW	9	70607449	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GGAATGCCTACAAATGCTTCTC -3'
(R):5'- TGCTGAGTTTCTCATAAGTGTTTCC -3'

Sequencing Primer
(F):5'- GTGCCACCACTTGTAGTATTTTTAG -3'
(R):5'- AAAGTGAGGGGTTTGCCT -3'

Posted On

2015-10-08