Mutagenetix > Incidental Mutations

Incidental Mutation 'R4931:Mindy3'

380539

Institutional Source

Beutler Lab

Gene Symbol

Mindy3

Ensembl Gene

ENSMUSG00000026767

Gene Name

MINDY lysine 48 deubiquitinase 3

Synonyms

5830410F13Rik, 2310047O13Rik, 1810041E18Rik, Fam188a

MMRRC Submission

042532-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R4931 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12347263-12419470 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12396213 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 231 (N231K)

Ref Sequence

ENSEMBL: ENSMUSP00000028105 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028105] [ENSMUST00000124515] [ENSMUST00000124603] [ENSMUST00000129489] [ENSMUST00000129993] [ENSMUST00000144645] [ENSMUST00000151529] [ENSMUST00000155530] [ENSMUST00000154899]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028105
AA Change: N231K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028105
Gene: ENSMUSG00000026767
AA Change: N231K

Domain	Start	End	E-Value	Type
DUF4205	9	351	1.48e-165	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124515

SMART Domains

Protein: ENSMUSP00000120193
Gene: ENSMUSG00000026767

Domain	Start	End	E-Value	Type
Blast:DUF4205	9	94	1e-46	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000124603

SMART Domains

Protein: ENSMUSP00000117457
Gene: ENSMUSG00000026767

Domain	Start	End	E-Value	Type
Pfam:DUF4205	11	79	8.3e-12	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000129348
AA Change: N137K

SMART Domains

Protein: ENSMUSP00000121265
Gene: ENSMUSG00000026767
AA Change: N137K

Domain	Start	End	E-Value	Type
DUF4205	3	160	3.65e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129489

SMART Domains

Protein: ENSMUSP00000122501
Gene: ENSMUSG00000026767

Domain	Start	End	E-Value	Type
Pfam:DUF4205	11	84	9.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129993

SMART Domains

Protein: ENSMUSP00000141479
Gene: ENSMUSG00000026767

Domain	Start	End	E-Value	Type
Pfam:DUF4205	3	87	1.3e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137082

Predicted Effect

probably benign
Transcript: ENSMUST00000144645

SMART Domains

Protein: ENSMUSP00000116836
Gene: ENSMUSG00000026767

Domain	Start	End	E-Value	Type
Pfam:DUF4205	11	87	3.7e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194533

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193349

Predicted Effect

probably benign
Transcript: ENSMUST00000155530

SMART Domains

Protein: ENSMUSP00000116939
Gene: ENSMUSG00000026767

Domain	Start	End	E-Value	Type
DUF4205	9	135	6.24e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154899

SMART Domains

Protein: ENSMUSP00000121476
Gene: ENSMUSG00000026767

Domain	Start	End	E-Value	Type
DUF4205	1	110	6.61e-7	SMART

Meta Mutation Damage Score

0.6946

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

95% (78/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a caspase-associated recruitment domain and may function in apoptosis. It has been identified as a tumor suppressor in lung and gastric cancers, and a polymorphism in the gene may be associated with gastric cancer risk. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	G	3: 145,938,120	D21G	probably benign	Het
4930402H24Rik	A	G	2: 130,741,873	F496L	possibly damaging	Het
4930562C15Rik	T	C	16: 4,861,046	L68P	possibly damaging	Het
Ache	A	G	5: 137,291,914	I414V	probably benign	Het
Acy1	G	A	9: 106,433,191	H308Y	probably damaging	Het
AF529169	T	C	9: 89,601,652	H564R	probably benign	Het
Aldh1b1	A	C	4: 45,803,661	I400L	probably benign	Het
Ankrd40	T	A	11: 94,334,821	L226Q	probably benign	Het
B3gnt9	T	C	8: 105,254,244	T171A	probably benign	Het
Ccdc33	T	C	9: 58,069,851	Y289C	probably damaging	Het
Cd209f	A	T	8: 4,103,688	I187N	probably damaging	Het
Cers6	T	G	2: 69,105,112	S319A	probably damaging	Het
Chrna4	A	G	2: 181,028,872	S364P	probably benign	Het
Chrnb3	T	C	8: 27,394,230	S317P	probably damaging	Het
Dapk1	T	C	13: 60,760,960	V1129A	probably benign	Het
Dhx9	G	A	1: 153,472,673	P302L	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Duox2	T	C	2: 122,296,755	N147S	probably benign	Het
Dytn	T	G	1: 63,633,678	E522A	probably benign	Het
E130114P18Rik	T	C	4: 97,720,287	D27G	unknown	Het
Egf	A	G	3: 129,711,468	F118S	probably damaging	Het
Eif2d	T	A	1: 131,154,391	F73L	probably damaging	Het
Eps8l1	A	G	7: 4,471,241	E237G	possibly damaging	Het
Espl1	A	G	15: 102,305,730	E664G	probably benign	Het
Fbrsl1	A	T	5: 110,379,029	S373T	possibly damaging	Het
Fras1	T	A	5: 96,636,840	F894Y	probably benign	Het
Gm12800	T	C	4: 101,909,170	V17A	possibly damaging	Het
Gpatch8	T	C	11: 102,481,224	E496G	unknown	Het
Gucy1a2	A	G	9: 3,759,588	K465E	probably damaging	Het
Igdcc4	A	G	9: 65,124,015	T459A	possibly damaging	Het
Itgad	A	T	7: 128,204,625	I64F	probably damaging	Het
Itgb2l	T	A	16: 96,437,449	N50I	probably damaging	Het
Kif13a	A	G	13: 46,809,055	I478T	probably damaging	Het
Krt31	G	A	11: 100,050,157	T109I	probably benign	Het
Ltbr	G	T	6: 125,307,474		probably null	Het
Magel2	A	G	7: 62,380,624	D1092G	unknown	Het
Mpnd	T	G	17: 56,012,362		probably benign	Het
Mtus2	C	T	5: 148,077,416	L340F	probably benign	Het
Nanog	G	A	6: 122,707,906	A17T	possibly damaging	Het
Ndufa9	G	T	6: 126,836,320	A181E	probably damaging	Het
Olfr619	T	G	7: 103,604,374	L240R	probably benign	Het
Olfr869	A	T	9: 20,137,562	I149F	probably benign	Het
Pprc1	ATCCTCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTC	19: 46,071,316		probably benign	Het
Prkacb	T	C	3: 146,747,977	I211V	possibly damaging	Het
Ptpn14	C	G	1: 189,851,277	L774V	probably benign	Het
Rad1	T	C	15: 10,492,762		probably benign	Het
Rims1	G	T	1: 22,533,947	P391Q	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Sf3b3	C	T	8: 110,816,329	R832Q	probably benign	Het
Slc12a2	A	G	18: 57,934,963	D975G	possibly damaging	Het
Slitrk6	A	G	14: 110,750,379	L632P	probably damaging	Het
Spire2	A	G	8: 123,368,784	D542G	possibly damaging	Het
Sppl3	A	T	5: 115,082,314	Q95L	probably damaging	Het
Stat5b	C	A	11: 100,784,254	E710*	probably null	Het
Tcl1	G	T	12: 105,222,613	H14N	probably damaging	Het
Ten1	T	C	11: 116,205,729	F70L	probably benign	Het
Tnfrsf13b	A	T	11: 61,140,937	T35S	possibly damaging	Het
Tpcn2	G	A	7: 145,267,309	P336L	probably benign	Het
Trf	C	A	9: 103,228,048	D22Y	probably damaging	Het
Ttyh1	A	G	7: 4,133,944		probably benign	Het
Vmn2r103	A	T	17: 19,811,769	I602F	probably benign	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zfp352	A	G	4: 90,224,304	Y227C	probably damaging	Het
Zfp599	A	T	9: 22,258,123	W18R	probably damaging	Het

Other mutations in Mindy3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01452:Mindy3	APN	2	12355272	splice site	probably benign
IGL02623:Mindy3	APN	2	12364483	nonsense	probably null
R0944:Mindy3	UTSW	2	12396182	missense	possibly damaging	0.94
R1275:Mindy3	UTSW	2	12396173	splice site	probably null
R2066:Mindy3	UTSW	2	12419249	missense	probably damaging	1.00
R2232:Mindy3	UTSW	2	12404045	missense	probably benign	0.44
R2357:Mindy3	UTSW	2	12404176	splice site	probably benign
R3724:Mindy3	UTSW	2	12355354	missense	probably damaging	0.97
R4031:Mindy3	UTSW	2	12401083	splice site	probably null
R4089:Mindy3	UTSW	2	12364516	missense	probably benign	0.21
R4175:Mindy3	UTSW	2	12405865	missense	probably damaging	1.00
R4359:Mindy3	UTSW	2	12396209	missense	probably damaging	1.00
R4424:Mindy3	UTSW	2	12348199	missense	probably benign	0.00
R4640:Mindy3	UTSW	2	12348163	missense	probably benign	0.01
R5926:Mindy3	UTSW	2	12348100	missense	probably damaging	1.00
R5966:Mindy3	UTSW	2	12401043	missense	probably benign	0.17
R6330:Mindy3	UTSW	2	12356933	missense	probably damaging	1.00
R6518:Mindy3	UTSW	2	12382129	missense	probably damaging	1.00
R6587:Mindy3	UTSW	2	12348116	nonsense	probably null
R6852:Mindy3	UTSW	2	12419252	start codon destroyed	possibly damaging	0.53
R6961:Mindy3	UTSW	2	12396178	critical splice donor site	probably null
R7103:Mindy3	UTSW	2	12401074	missense	possibly damaging	0.95
R7624:Mindy3	UTSW	2	12419189	missense	probably benign	0.00
R7661:Mindy3	UTSW	2	12397517	missense	probably damaging	1.00
R8474:Mindy3	UTSW	2	12400028	missense	probably damaging	1.00
R8518:Mindy3	UTSW	2	12355343	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTGAAACCCAAGATGGCTTCC -3'
(R):5'- TCTCACTAAGGCCGGACATG -3'

Sequencing Primer
(F):5'- ACCTGCACTTAGTATTATGGCATC -3'
(R):5'- CTAAGGCCGGACATGGGAAAG -3'

Posted On

2016-04-15