Incidental Mutation 'IGL02860:Mindy2'
ID362126
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: 0.120) question?
Stock #IGL02860
Quality Score
Status
Chromosome9
Chromosomal Location70599014-70657174 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 70656544 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 168 (E168G)
Ref Sequence ENSEMBL: ENSMUSP00000150300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049031] [ENSMUST00000098589] [ENSMUST00000213380]
Predicted Effect probably damaging
Transcript: ENSMUST00000049031
AA Change: E168G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037035
Gene: ENSMUSG00000042444
AA Change: E168G

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: ENSMUST00000098589
SMART Domains Protein: ENSMUSP00000096188
Gene: ENSMUSG00000074213

DomainStartEndE-ValueType
low complexity region 12 39 N/A INTRINSIC
low complexity region 55 67 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000213380
AA Change: E168G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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
Adamts7 A T 9: 90,191,862 M832L probably benign Het
Cars A T 7: 143,586,421 D99E probably damaging Het
Ccdc112 A G 18: 46,287,442 F414L probably benign Het
Chst15 C T 7: 132,269,102 V235I probably benign Het
Dysf G T 6: 84,190,898 probably null Het
Elavl2 T C 4: 91,260,953 D174G probably damaging Het
Gapdhs T A 7: 30,729,883 probably null Het
Gnb1l G A 16: 18,552,535 G259R probably damaging Het
Ighv9-2 T G 12: 114,109,237 I39L possibly damaging Het
Kntc1 T A 5: 123,769,873 N474K possibly damaging Het
Lrrc8c T C 5: 105,579,615 probably benign Het
Lyn C T 4: 3,745,594 A131V possibly damaging Het
Morc2a T C 11: 3,661,821 probably benign Het
Naip6 T C 13: 100,300,476 Q513R possibly damaging Het
Nell1 A T 7: 50,848,485 I597F probably damaging Het
Nudt12 T A 17: 59,010,435 R72S probably benign Het
Pan2 C T 10: 128,310,735 R414* probably null Het
Rb1 T C 14: 73,206,012 R768G probably damaging Het
Rps6ka2 A G 17: 7,282,856 E440G possibly damaging Het
Serpinb3a C T 1: 107,049,453 probably benign Het
Stx8 C A 11: 67,984,565 T72K probably damaging Het
Tecrl A G 5: 83,354,997 F2L probably benign Het
Tmem263 C T 10: 85,114,552 T69I probably damaging Het
Ttc39b T C 4: 83,263,746 N49D probably benign Het
Ttn A G 2: 76,717,015 L32229P probably damaging Het
Zfp358 T C 8: 3,496,074 F219L probably damaging Het
Other mutations in Mindy2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 On2015-12-18