Incidental Mutation 'IGL02623:Mindy3'
ID300958
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mindy3
Ensembl Gene ENSMUSG00000026767
Gene NameMINDY lysine 48 deubiquitinase 3
Synonyms5830410F13Rik, 2310047O13Rik, 1810041E18Rik, Fam188a
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.125) question?
Stock #IGL02623
Quality Score
Status
Chromosome2
Chromosomal Location12347263-12419470 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 12364483 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 142 (Q142*)
Ref Sequence ENSEMBL: ENSMUSP00000117457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028105] [ENSMUST00000124603] [ENSMUST00000129489] [ENSMUST00000129993] [ENSMUST00000144645] [ENSMUST00000154899] [ENSMUST00000155530]
Predicted Effect probably null
Transcript: ENSMUST00000028105
AA Change: Q306*
SMART Domains Protein: ENSMUSP00000028105
Gene: ENSMUSG00000026767
AA Change: Q306*

DomainStartEndE-ValueType
DUF4205 9 351 1.48e-165 SMART
Predicted Effect probably null
Transcript: ENSMUST00000124603
AA Change: Q142*
SMART Domains Protein: ENSMUSP00000117457
Gene: ENSMUSG00000026767
AA Change: Q142*

DomainStartEndE-ValueType
Pfam:DUF4205 11 79 8.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129489
SMART Domains Protein: ENSMUSP00000122501
Gene: ENSMUSG00000026767

DomainStartEndE-ValueType
Pfam:DUF4205 11 84 9.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129993
SMART Domains Protein: ENSMUSP00000141479
Gene: ENSMUSG00000026767

DomainStartEndE-ValueType
Pfam:DUF4205 3 87 1.3e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137082
Predicted Effect probably benign
Transcript: ENSMUST00000144645
SMART Domains Protein: ENSMUSP00000116836
Gene: ENSMUSG00000026767

DomainStartEndE-ValueType
Pfam:DUF4205 11 87 3.7e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154899
SMART Domains Protein: ENSMUSP00000121476
Gene: ENSMUSG00000026767

DomainStartEndE-ValueType
DUF4205 1 110 6.61e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155530
SMART Domains Protein: ENSMUSP00000116939
Gene: ENSMUSG00000026767

DomainStartEndE-ValueType
DUF4205 9 135 6.24e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194533
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195758
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 91,056,144 I35F probably benign Het
Acad10 A G 5: 121,629,930 V819A possibly damaging Het
Adgrd1 A T 5: 129,132,745 N279Y probably damaging Het
Aplp2 C A 9: 31,178,083 probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
B3gnt5 A G 16: 19,769,610 D193G probably damaging Het
Cacng1 A G 11: 107,704,319 F144S probably damaging Het
Dnm3 T A 1: 162,355,432 T105S probably damaging Het
Efcab6 T A 15: 83,879,448 I1228F probably damaging Het
Erc2 A G 14: 27,776,980 D271G probably damaging Het
Fat3 T C 9: 15,997,137 Y2523C probably damaging Het
Fhl4 A G 10: 85,098,171 F249L probably damaging Het
Gm17782 T C 17: 36,162,066 probably benign Het
Gm4787 A G 12: 81,378,728 Y219H probably damaging Het
Hk1 A G 10: 62,292,359 L328P probably benign Het
Hspa12a T A 19: 58,809,551 Y245F probably benign Het
Kbtbd12 T C 6: 88,618,389 Y153C probably damaging Het
Kcnd2 A T 6: 21,726,195 R562S probably benign Het
Lct T C 1: 128,308,251 S340G probably benign Het
Maats1 T A 16: 38,333,778 D135V possibly damaging Het
Mettl25 C A 10: 105,826,324 G262W probably damaging Het
Olfr1045 A T 2: 86,198,019 H244Q probably damaging Het
Optn T C 2: 5,035,022 E318G probably damaging Het
Pan2 T C 10: 128,312,899 S443P probably benign Het
Parva A G 7: 112,576,439 D259G probably damaging Het
Pkhd1l1 T A 15: 44,584,873 L3816Q probably damaging Het
Polq T C 16: 37,060,375 F967S probably benign Het
Prdm16 T C 4: 154,340,877 N817S probably damaging Het
Ptprt C A 2: 161,607,452 probably benign Het
Rbbp8nl T A 2: 180,281,443 S154C probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Slit1 T C 19: 41,651,683 I169V probably damaging Het
Smyd4 G T 11: 75,390,064 probably benign Het
Tial1 A G 7: 128,443,883 Y326H probably benign Het
Tmem198b A G 10: 128,802,451 L81P probably damaging Het
Tmem94 T A 11: 115,796,401 C1115* probably null Het
Tns3 A G 11: 8,437,141 S1349P probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Zfp106 A T 2: 120,545,914 probably null Het
Zfp119b T C 17: 55,939,793 E99G probably damaging Het
Zfp462 T A 4: 55,012,986 C503S probably damaging Het
Zfyve19 G A 2: 119,212,015 probably null Het
Zxdc G T 6: 90,382,370 K661N probably damaging Het
Other mutations in Mindy3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01452:Mindy3 APN 2 12355272 splice site probably benign
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
R4931:Mindy3 UTSW 2 12396213 missense probably damaging 1.00
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
Posted On2015-04-16