Incidental Mutation 'IGL01301:Mindy1'
ID73248
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mindy1
Ensembl Gene ENSMUSG00000038712
Gene NameMINDY lysine 48 deubiquitinase 1
Synonyms4930504E06Rik, cI-40, NF-E2 inducible protein, 1810005H09Rik, Fam63a
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01301
Quality Score
Status
Chromosome3
Chromosomal Location95281345-95296166 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 95288390 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 148 (L148P)
Ref Sequence ENSEMBL: ENSMUSP00000127839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039537] [ENSMUST00000107187] [ENSMUST00000143498] [ENSMUST00000168223]
Predicted Effect probably damaging
Transcript: ENSMUST00000039537
AA Change: L148P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043910
Gene: ENSMUSG00000038712
AA Change: L148P

DomainStartEndE-ValueType
low complexity region 35 54 N/A INTRINSIC
low complexity region 67 86 N/A INTRINSIC
Pfam:DUF544 143 268 7.7e-51 PFAM
low complexity region 369 382 N/A INTRINSIC
low complexity region 386 397 N/A INTRINSIC
low complexity region 405 423 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107187
AA Change: L148P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102805
Gene: ENSMUSG00000038712
AA Change: L148P

DomainStartEndE-ValueType
low complexity region 35 54 N/A INTRINSIC
low complexity region 67 86 N/A INTRINSIC
Pfam:DUF544 143 266 7e-42 PFAM
low complexity region 369 382 N/A INTRINSIC
low complexity region 400 406 N/A INTRINSIC
low complexity region 414 432 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133762
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135264
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137743
Predicted Effect probably benign
Transcript: ENSMUST00000143498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153928
Predicted Effect probably damaging
Transcript: ENSMUST00000168223
AA Change: L148P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127839
Gene: ENSMUSG00000038712
AA Change: L148P

DomainStartEndE-ValueType
low complexity region 35 54 N/A INTRINSIC
low complexity region 67 86 N/A INTRINSIC
Pfam:DUF544 143 268 7.7e-51 PFAM
low complexity region 369 382 N/A INTRINSIC
low complexity region 386 397 N/A INTRINSIC
low complexity region 405 423 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik C T 17: 14,943,919 probably null Het
Acacb A T 5: 114,246,498 I2238L probably benign Het
Aldh1l2 T C 10: 83,522,846 Y95C probably damaging Het
Asxl2 A G 12: 3,501,425 T1056A probably damaging Het
B4galnt1 A G 10: 127,169,779 T250A possibly damaging Het
Cela3b A T 4: 137,423,843 probably null Het
Chst3 T C 10: 60,185,832 T398A probably damaging Het
Cngb3 A G 4: 19,425,625 T478A probably damaging Het
Cyp4a10 T C 4: 115,518,455 L45P probably damaging Het
Defb21 A G 2: 152,574,751 E49G possibly damaging Het
Dnajc1 T C 2: 18,308,834 T159A probably damaging Het
Dnmbp A G 19: 43,902,354 S325P probably benign Het
Fam91a1 T C 15: 58,442,871 F534L probably damaging Het
Fermt2 T C 14: 45,464,863 E488G probably damaging Het
Filip1 T C 9: 79,819,180 D719G possibly damaging Het
Gad1-ps A G 10: 99,445,151 noncoding transcript Het
Glra3 C A 8: 55,940,962 A36E probably benign Het
Gm9884 T A 1: 25,830,648 probably benign Het
Hectd2 T C 19: 36,569,370 probably benign Het
Hnrnpm C T 17: 33,669,168 probably null Het
Lrrk2 T A 15: 91,767,339 Y1733N probably damaging Het
Mkrn2 C A 6: 115,611,789 Y164* probably null Het
Msra T C 14: 64,210,435 Y135C probably damaging Het
Ndst3 C T 3: 123,548,916 A749T probably damaging Het
Ngdn G T 14: 55,017,114 A41S probably benign Het
Nlrp12 A T 7: 3,240,092 S597T probably damaging Het
Olfr1451 A T 19: 12,999,417 I144F probably damaging Het
Pabpc6 A G 17: 9,667,970 S551P probably benign Het
Plekhg5 C T 4: 152,112,553 A752V probably benign Het
Prpf4b T C 13: 34,884,291 S368P probably benign Het
Pus7 A G 5: 23,746,424 probably null Het
Rad23b T C 4: 55,366,774 probably benign Het
Rgs13 T C 1: 144,171,414 probably benign Het
Sfpq T C 4: 127,026,760 probably benign Het
Slc9a9 T A 9: 95,055,459 S455T probably benign Het
Slco1a1 A G 6: 141,932,530 probably benign Het
Tmem26 A T 10: 68,778,606 N284Y probably damaging Het
Tmem87a T C 2: 120,380,769 I232V probably benign Het
Trpm2 A G 10: 77,923,984 L1106P probably damaging Het
Vmn1r18 T C 6: 57,389,667 probably benign Het
Zfp213 G T 17: 23,561,417 A43D probably benign Het
Zfp365 A G 10: 67,909,354 V198A probably damaging Het
Zfp395 T A 14: 65,394,751 probably null Het
Zfp618 G A 4: 63,132,826 V615M probably damaging Het
Other mutations in Mindy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03380:Mindy1 APN 3 95291018 splice site probably benign
ANU18:Mindy1 UTSW 3 95288390 missense probably damaging 1.00
PIT4576001:Mindy1 UTSW 3 95288069 missense probably benign 0.12
R4647:Mindy1 UTSW 3 95282743 unclassified probably benign
R5076:Mindy1 UTSW 3 95295399 missense probably benign 0.01
R5875:Mindy1 UTSW 3 95294814 missense probably damaging 0.98
R5938:Mindy1 UTSW 3 95293756 missense probably benign 0.18
R8112:Mindy1 UTSW 3 95294811 missense probably damaging 1.00
X0028:Mindy1 UTSW 3 95294895 missense probably damaging 1.00
Posted On2013-10-07