Incidental Mutation 'IGL01449:Usp12'
ID84558
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp12
Ensembl Gene ENSMUSG00000029640
Gene Nameubiquitin specific peptidase 12
SynonymsUbh1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01449
Quality Score
Status
Chromosome5
Chromosomal Location146734809-146795006 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 146754440 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 168 (D168G)
Ref Sequence ENSEMBL: ENSMUSP00000082754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085614]
Predicted Effect probably benign
Transcript: ENSMUST00000085614
AA Change: D168G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082754
Gene: ENSMUSG00000029640
AA Change: D168G

DomainStartEndE-ValueType
Pfam:UCH 38 366 2.8e-67 PFAM
Pfam:UCH_1 39 339 6.6e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138202
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A T 8: 72,444,849 L33F probably benign Het
Actr8 T C 14: 29,990,970 probably null Het
Aldh16a1 C A 7: 45,141,967 A105S probably damaging Het
Angpt2 T C 8: 18,710,625 T154A probably benign Het
BC051665 A G 13: 60,782,704 V278A probably damaging Het
Cap1 T C 4: 122,860,187 T458A probably damaging Het
Clcn3 A T 8: 60,934,598 S179T probably damaging Het
Cyp2a22 T C 7: 26,933,553 D408G probably benign Het
D430042O09Rik T A 7: 125,870,685 V1442D probably damaging Het
Fam217b T A 2: 178,421,150 S302R probably damaging Het
Fcho2 A T 13: 98,789,807 D89E probably benign Het
Fnip1 C T 11: 54,499,508 R434C probably damaging Het
Gga3 G A 11: 115,589,102 T261M probably damaging Het
Gm21985 T C 2: 112,339,396 F292L probably damaging Het
Gm43638 A T 5: 87,486,215 S178T possibly damaging Het
Igkv10-95 G A 6: 68,680,764 G68E probably damaging Het
Lpcat2 G A 8: 92,871,147 R180Q possibly damaging Het
Muc6 C T 7: 141,638,614 A1984T possibly damaging Het
Npy4r T A 14: 34,146,365 Y322F probably damaging Het
Nwd2 T A 5: 63,805,594 H840Q probably damaging Het
Olfr844 G A 9: 19,319,233 G233D probably damaging Het
Osbpl2 G T 2: 180,145,194 probably benign Het
Pclo T A 5: 14,678,516 probably benign Het
Pold4 T C 19: 4,232,867 probably benign Het
Ppp1r16a A G 15: 76,694,294 probably benign Het
Pprc1 C T 19: 46,065,232 probably benign Het
Prkcg A G 7: 3,319,619 D343G probably benign Het
Scaf11 A C 15: 96,419,126 S852R probably benign Het
Slc31a2 C T 4: 62,292,696 T22I probably damaging Het
Sox30 T A 11: 45,981,342 D341E probably damaging Het
Tle4 A G 19: 14,465,340 S339P probably benign Het
Tsg101 A T 7: 46,908,925 Y78N probably damaging Het
Ttc1 T A 11: 43,738,803 S179C probably damaging Het
Txnrd3 T A 6: 89,654,147 S142T probably benign Het
Ubr4 C A 4: 139,412,736 A1210E probably damaging Het
Uroc1 C A 6: 90,338,653 P172Q probably damaging Het
Vmn1r32 T A 6: 66,552,932 M287L probably benign Het
Vwa8 C T 14: 79,182,988 Q1710* probably null Het
Wdfy4 T A 14: 33,104,037 Q1219L probably damaging Het
Zbtb17 A G 4: 141,463,305 T145A probably benign Het
Zfp697 T C 3: 98,427,530 C204R probably damaging Het
Other mutations in Usp12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01658:Usp12 APN 5 146751929 missense probably damaging 0.99
R0052:Usp12 UTSW 5 146739104 missense possibly damaging 0.72
R6894:Usp12 UTSW 5 146754539 missense possibly damaging 0.49
R7076:Usp12 UTSW 5 146737752 missense possibly damaging 0.78
R7167:Usp12 UTSW 5 146768935 critical splice donor site probably null
R7497:Usp12 UTSW 5 146752454 intron probably null
R7538:Usp12 UTSW 5 146794620 missense probably benign 0.00
R7597:Usp12 UTSW 5 146754369 critical splice donor site probably null
Posted On2013-11-11