Incidental Mutation 'IGL01301:Mindy1'
ID 73248
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mindy1
Ensembl Gene ENSMUSG00000038712
Gene Name MINDY lysine 48 deubiquitinase 1
Synonyms NF-E2 inducible protein, cI-40, Fam63a, 1810005H09Rik, 4930504E06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01301
Quality Score
Status
Chromosome 3
Chromosomal Location 95189237-95203477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95195701 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000168223] [ENSMUST00000143498]
AlphaFold Q76LS9
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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147963
Predicted Effect probably benign
Transcript: ENSMUST00000143498
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik C T 17: 15,164,181 (GRCm39) probably null Het
Acacb A T 5: 114,384,559 (GRCm39) I2238L probably benign Het
Aldh1l2 T C 10: 83,358,710 (GRCm39) Y95C probably damaging Het
Asxl2 A G 12: 3,551,425 (GRCm39) T1056A probably damaging Het
B4galnt1 A G 10: 127,005,648 (GRCm39) T250A possibly damaging Het
Cela3b A T 4: 137,151,154 (GRCm39) probably null Het
Chst3 T C 10: 60,021,654 (GRCm39) T398A probably damaging Het
Cngb3 A G 4: 19,425,625 (GRCm39) T478A probably damaging Het
Cyp4a10 T C 4: 115,375,652 (GRCm39) L45P probably damaging Het
Defb21 A G 2: 152,416,671 (GRCm39) E49G possibly damaging Het
Dnajc1 T C 2: 18,313,645 (GRCm39) T159A probably damaging Het
Dnmbp A G 19: 43,890,793 (GRCm39) S325P probably benign Het
Fam91a1 T C 15: 58,314,720 (GRCm39) F534L probably damaging Het
Fermt2 T C 14: 45,702,320 (GRCm39) E488G probably damaging Het
Filip1 T C 9: 79,726,462 (GRCm39) D719G possibly damaging Het
Gad1-ps A G 10: 99,281,013 (GRCm39) noncoding transcript Het
Glra3 C A 8: 56,393,997 (GRCm39) A36E probably benign Het
Gm9884 T A 1: 25,869,729 (GRCm39) probably benign Het
Hectd2 T C 19: 36,546,770 (GRCm39) probably benign Het
Hnrnpm C T 17: 33,888,142 (GRCm39) probably null Het
Lrrk2 T A 15: 91,651,542 (GRCm39) Y1733N probably damaging Het
Mkrn2 C A 6: 115,588,750 (GRCm39) Y164* probably null Het
Msra T C 14: 64,447,884 (GRCm39) Y135C probably damaging Het
Ndst3 C T 3: 123,342,565 (GRCm39) A749T probably damaging Het
Ngdn G T 14: 55,254,571 (GRCm39) A41S probably benign Het
Nlrp12 A T 7: 3,288,722 (GRCm39) S597T probably damaging Het
Or5b99 A T 19: 12,976,781 (GRCm39) I144F probably damaging Het
Pabpc6 A G 17: 9,886,899 (GRCm39) S551P probably benign Het
Plekhg5 C T 4: 152,197,010 (GRCm39) A752V probably benign Het
Prpf4b T C 13: 35,068,274 (GRCm39) S368P probably benign Het
Pus7 A G 5: 23,951,422 (GRCm39) probably null Het
Rad23b T C 4: 55,366,774 (GRCm39) probably benign Het
Rgs13 T C 1: 144,047,152 (GRCm39) probably benign Het
Sfpq T C 4: 126,920,553 (GRCm39) probably benign Het
Slc9a9 T A 9: 94,937,512 (GRCm39) S455T probably benign Het
Slco1a1 A G 6: 141,878,256 (GRCm39) probably benign Het
Tmem26 A T 10: 68,614,436 (GRCm39) N284Y probably damaging Het
Tmem87a T C 2: 120,211,250 (GRCm39) I232V probably benign Het
Trpm2 A G 10: 77,759,818 (GRCm39) L1106P probably damaging Het
Vmn1r18 T C 6: 57,366,652 (GRCm39) probably benign Het
Zfp213 G T 17: 23,780,391 (GRCm39) A43D probably benign Het
Zfp365 A G 10: 67,745,184 (GRCm39) V198A probably damaging Het
Zfp395 T A 14: 65,632,200 (GRCm39) probably null Het
Zfp618 G A 4: 63,051,063 (GRCm39) V615M probably damaging Het
Other mutations in Mindy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03380:Mindy1 APN 3 95,198,329 (GRCm39) splice site probably benign
ANU18:Mindy1 UTSW 3 95,195,701 (GRCm39) missense probably damaging 1.00
PIT4576001:Mindy1 UTSW 3 95,195,380 (GRCm39) missense probably benign 0.12
R4647:Mindy1 UTSW 3 95,190,054 (GRCm39) unclassified probably benign
R5076:Mindy1 UTSW 3 95,202,710 (GRCm39) missense probably benign 0.01
R5875:Mindy1 UTSW 3 95,202,125 (GRCm39) missense probably damaging 0.98
R5938:Mindy1 UTSW 3 95,201,067 (GRCm39) missense probably benign 0.18
R8112:Mindy1 UTSW 3 95,202,122 (GRCm39) missense probably damaging 1.00
R8318:Mindy1 UTSW 3 95,199,936 (GRCm39) missense probably damaging 0.98
R8692:Mindy1 UTSW 3 95,199,587 (GRCm39) missense probably damaging 1.00
R9356:Mindy1 UTSW 3 95,202,590 (GRCm39) missense probably benign 0.20
R9357:Mindy1 UTSW 3 95,202,590 (GRCm39) missense probably benign 0.20
R9358:Mindy1 UTSW 3 95,202,590 (GRCm39) missense probably benign 0.20
R9683:Mindy1 UTSW 3 95,202,176 (GRCm39) missense probably benign 0.21
X0028:Mindy1 UTSW 3 95,202,206 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07