Incidental Mutation 'IGL00770:Mindy2'
ID277889
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mindy2
Ensembl Gene ENSMUSG00000042444
Gene NameMINDY lysine 48 deubiquitinase 2
SynonymsB230380D07Rik, Fam63b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.145) question?
Stock #IGL00770
Quality Score
Status
Chromosome9
Chromosomal Location70599014-70657174 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 70631033 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 340 (D340G)
Ref Sequence ENSEMBL: ENSMUSP00000037035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049031] [ENSMUST00000213380]
Predicted Effect probably benign
Transcript: ENSMUST00000049031
AA Change: D340G

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000037035
Gene: ENSMUSG00000042444
AA Change: D340G

DomainStartEndE-ValueType
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
AA Change: D340G

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214293
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,388,539 A1397T possibly damaging Het
Aldob A G 4: 49,536,843 S349P probably benign Het
Cd2 A T 3: 101,283,029 probably null Het
Cmtm2a A G 8: 104,292,930 S43P probably damaging Het
Cts6 T C 13: 61,198,339 probably benign Het
E2f3 A T 13: 29,918,704 D68E probably damaging Het
Ect2 G A 3: 27,098,443 R869W probably damaging Het
Eml1 A G 12: 108,514,515 probably null Het
Fundc1 T A X: 17,558,013 probably null Het
Gabrb1 G T 5: 72,108,446 probably null Het
Lrrk2 T G 15: 91,801,833 probably benign Het
Map3k2 C T 18: 32,228,239 P584L probably benign Het
Nav3 T C 10: 109,816,263 D877G probably damaging Het
Nol9 T C 4: 152,052,015 S515P probably benign Het
Osgepl1 A G 1: 53,320,246 I305V probably benign Het
Pign A G 1: 105,597,756 V449A probably benign Het
Rad54b G A 4: 11,593,765 R131K probably benign Het
Rgl3 A T 9: 21,987,722 probably benign Het
Scn2a A G 2: 65,735,853 D1407G probably damaging Het
Sf3b3 A T 8: 110,817,638 I790N probably damaging Het
Srebf1 C T 11: 60,205,139 R358Q probably damaging Het
Tmem18 A G 12: 30,588,721 R133G unknown Het
Tnfrsf11b T G 15: 54,254,072 R262S probably benign Het
Tsc1 A T 2: 28,665,011 H171L probably damaging Het
Ubr5 T C 15: 38,006,541 T1157A probably benign Het
Wdcp A G 12: 4,855,303 E608G probably damaging Het
Other mutations in Mindy2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00767:Mindy2 APN 9 70634003 critical splice donor site probably null
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
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 On2015-04-16