Incidental Mutation 'IGL01483:Mindy4'
ID88678
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mindy4
Ensembl Gene ENSMUSG00000038022
Gene NameMINDY lysine 48 deubiquitinase 4
SynonymsC330043M08Rik, LOC384387, Fam188b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL01483
Quality Score
Status
Chromosome6
Chromosomal Location55203383-55320222 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55216685 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 121 (D121G)
Ref Sequence ENSEMBL: ENSMUSP00000145151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053094] [ENSMUST00000204842]
Predicted Effect possibly damaging
Transcript: ENSMUST00000053094
AA Change: D121G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000061221
Gene: ENSMUSG00000038022
AA Change: D121G

DomainStartEndE-ValueType
low complexity region 154 166 N/A INTRINSIC
low complexity region 224 240 N/A INTRINSIC
low complexity region 265 277 N/A INTRINSIC
DUF4205 403 739 1.47e-187 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204842
AA Change: D121G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145151
Gene: ENSMUSG00000038022
AA Change: D121G

DomainStartEndE-ValueType
low complexity region 154 166 N/A INTRINSIC
low complexity region 224 240 N/A INTRINSIC
low complexity region 265 277 N/A INTRINSIC
DUF4205 403 591 6.19e-10 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik G T 16: 90,554,313 noncoding transcript Het
2410089E03Rik T G 15: 8,187,107 I603S probably damaging Het
Abcb4 T C 5: 8,927,871 I483T probably damaging Het
Ank3 A T 10: 69,874,809 H388L probably damaging Het
Arhgap24 T C 5: 102,860,377 Y52H possibly damaging Het
Atf7ip A G 6: 136,587,459 N900S probably damaging Het
Bmp10 A T 6: 87,433,951 D242V probably damaging Het
Ceacam12 A G 7: 18,067,521 R142G probably benign Het
Cilp2 T A 8: 69,882,846 I501F probably damaging Het
Dglucy T C 12: 100,853,217 V426A probably damaging Het
Dyrk1b A G 7: 28,182,676 D94G probably damaging Het
Erbb2 C T 11: 98,434,539 R898C probably damaging Het
Fbxo7 T C 10: 86,044,581 Y298H probably damaging Het
Gcg T C 2: 62,480,483 D25G possibly damaging Het
Gm11639 T C 11: 104,739,347 V968A probably benign Het
Helb A G 10: 120,111,138 V90A probably damaging Het
Krt40 T A 11: 99,542,727 E144D probably damaging Het
Lpo G A 11: 87,821,138 T31I probably benign Het
Mc5r A G 18: 68,339,244 I225V probably damaging Het
Mccc1 A G 3: 35,989,860 F245L probably damaging Het
Nap1l4 A T 7: 143,527,316 probably null Het
Noc4l T A 5: 110,648,958 K486M probably damaging Het
Notum T C 11: 120,656,656 D271G probably damaging Het
Pan3 T A 5: 147,529,973 L550Q probably benign Het
Pde4dip A G 3: 97,754,149 S594P probably damaging Het
Pramef8 A T 4: 143,417,477 E131V probably damaging Het
Prr23a1 T G 9: 98,843,316 S244A probably benign Het
Rarb T C 14: 16,432,273 probably benign Het
Sh3d19 A G 3: 86,114,796 D511G probably benign Het
Slco6c1 T C 1: 97,128,107 N23S probably benign Het
Smarcc1 G T 9: 110,222,060 G983* probably null Het
Tbc1d22a A T 15: 86,391,203 Q442L probably benign Het
Tuba1b A G 15: 98,932,457 Y161H possibly damaging Het
Zdhhc14 G A 17: 5,712,458 M212I probably benign Het
Other mutations in Mindy4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Mindy4 APN 6 55284742 splice site probably benign
IGL01721:Mindy4 APN 6 55223999 missense probably damaging 1.00
IGL01965:Mindy4 APN 6 55260532 splice site probably benign
IGL02214:Mindy4 APN 6 55216651 missense possibly damaging 0.88
IGL03058:Mindy4 APN 6 55308198 missense probably damaging 1.00
IGL03077:Mindy4 APN 6 55309330 missense probably damaging 1.00
IGL03296:Mindy4 APN 6 55297753 critical splice donor site probably null
R0383:Mindy4 UTSW 6 55276634 missense probably benign 0.00
R0384:Mindy4 UTSW 6 55216684 missense probably damaging 1.00
R0636:Mindy4 UTSW 6 55276585 missense possibly damaging 0.73
R0848:Mindy4 UTSW 6 55318286 nonsense probably null
R1171:Mindy4 UTSW 6 55255616 missense possibly damaging 0.75
R1210:Mindy4 UTSW 6 55284813 missense possibly damaging 0.92
R1341:Mindy4 UTSW 6 55255616 missense probably benign 0.00
R2030:Mindy4 UTSW 6 55211262 missense probably damaging 1.00
R2127:Mindy4 UTSW 6 55218265 missense probably benign 0.05
R2237:Mindy4 UTSW 6 55301070 missense probably damaging 1.00
R2238:Mindy4 UTSW 6 55301070 missense probably damaging 1.00
R2250:Mindy4 UTSW 6 55300949 missense probably damaging 0.99
R2571:Mindy4 UTSW 6 55284785 missense probably damaging 1.00
R2846:Mindy4 UTSW 6 55278100 missense probably damaging 1.00
R3001:Mindy4 UTSW 6 55218364 missense probably benign 0.21
R3002:Mindy4 UTSW 6 55218364 missense probably benign 0.21
R3498:Mindy4 UTSW 6 55216525 missense probably benign 0.01
R4167:Mindy4 UTSW 6 55224346 missense possibly damaging 0.93
R4767:Mindy4 UTSW 6 55260565 missense probably damaging 0.98
R4812:Mindy4 UTSW 6 55279103 missense possibly damaging 0.64
R5109:Mindy4 UTSW 6 55216745 splice site probably null
R5203:Mindy4 UTSW 6 55255661 missense probably benign 0.00
R5221:Mindy4 UTSW 6 55224107 missense probably benign
R5628:Mindy4 UTSW 6 55260594 missense probably damaging 0.98
R6265:Mindy4 UTSW 6 55301064 missense probably damaging 0.99
R6596:Mindy4 UTSW 6 55224016 missense probably damaging 0.99
R7084:Mindy4 UTSW 6 55278235 missense probably benign
R7350:Mindy4 UTSW 6 55301025 missense probably damaging 0.97
R7535:Mindy4 UTSW 6 55297753 critical splice donor site probably null
R7625:Mindy4 UTSW 6 55276613 missense possibly damaging 0.95
R8052:Mindy4 UTSW 6 55300992 missense probably damaging 0.99
X0065:Mindy4 UTSW 6 55262816 missense probably damaging 0.99
Z1177:Mindy4 UTSW 6 55224341 missense probably benign 0.10
Posted On2013-11-18