Incidental Mutation 'IGL02052:Usp29'
ID185105
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp29
Ensembl Gene ENSMUSG00000051527
Gene Nameubiquitin specific peptidase 29
SynonymsOcat
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02052
Quality Score
Status
Chromosome7
Chromosomal Location6730578-6967219 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 6962526 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Proline at position 456 (H456P)
Ref Sequence ENSEMBL: ENSMUSP00000143769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054055] [ENSMUST00000197117] [ENSMUST00000198068] [ENSMUST00000200535]
Predicted Effect probably benign
Transcript: ENSMUST00000054055
AA Change: H456P

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000062349
Gene: ENSMUSG00000051527
AA Change: H456P

DomainStartEndE-ValueType
Pfam:UCH_N 1 107 6.1e-37 PFAM
low complexity region 162 179 N/A INTRINSIC
low complexity region 200 214 N/A INTRINSIC
Pfam:UCH 288 823 6.1e-53 PFAM
Pfam:UCH_1 289 615 2.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197117
SMART Domains Protein: ENSMUSP00000143283
Gene: ENSMUSG00000051527

DomainStartEndE-ValueType
PDB:3U12|B 11 73 3e-7 PDB
low complexity region 82 95 N/A INTRINSIC
low complexity region 169 186 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198068
AA Change: H456P

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143267
Gene: ENSMUSG00000051527
AA Change: H456P

DomainStartEndE-ValueType
PDB:3U12|B 11 123 3e-6 PDB
low complexity region 169 186 N/A INTRINSIC
low complexity region 207 221 N/A INTRINSIC
Pfam:UCH 295 830 7.9e-52 PFAM
Pfam:UCH_1 296 626 9.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200535
AA Change: H456P

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143769
Gene: ENSMUSG00000051527
AA Change: H456P

DomainStartEndE-ValueType
Pfam:UCH_N 8 114 8.3e-34 PFAM
low complexity region 169 186 N/A INTRINSIC
low complexity region 207 221 N/A INTRINSIC
Pfam:UCH 295 830 2.8e-51 PFAM
Pfam:UCH_1 296 622 1.1e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204486
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef37 C T 18: 61,499,768 V533M probably damaging Het
Bicd2 A G 13: 49,379,189 D343G possibly damaging Het
Ccl26 C T 5: 135,563,339 S48N possibly damaging Het
Cdkn1b A T 6: 134,921,007 R30* probably null Het
Cds1 G T 5: 101,814,472 V318L probably benign Het
Ceacam11 A G 7: 17,973,623 S111G probably benign Het
Cntn1 A C 15: 92,291,703 I636L possibly damaging Het
Cog2 G A 8: 124,542,888 probably null Het
Cyp2g1 G A 7: 26,814,294 probably benign Het
Ddx54 T C 5: 120,625,718 V644A possibly damaging Het
Dnah1 T C 14: 31,268,786 Q3192R probably damaging Het
Dyrk2 T G 10: 118,860,543 H270P probably damaging Het
Ephb6 A G 6: 41,613,322 T3A probably benign Het
Fam120a G A 13: 48,933,945 probably benign Het
Fam184a A G 10: 53,697,120 probably benign Het
Fmo1 A G 1: 162,850,060 probably null Het
Gaa A G 11: 119,284,195 Y874C possibly damaging Het
Gabrr1 T A 4: 33,152,567 I169N probably damaging Het
Gm13083 A C 4: 143,615,073 D24A probably benign Het
Gm13734 T C 2: 87,136,321 probably null Het
Gnb1 T C 4: 155,533,691 probably benign Het
Hecw2 G T 1: 53,926,511 F385L probably benign Het
Kif5a C T 10: 127,243,499 V277M probably damaging Het
Mogat2 A T 7: 99,238,564 M1K probably null Het
Mrgprx2 A T 7: 48,482,294 W259R possibly damaging Het
Nf1 T C 11: 79,412,727 L410S probably damaging Het
Ntn4 T G 10: 93,707,349 N312K probably damaging Het
Papss2 T C 19: 32,660,583 V365A possibly damaging Het
Pde4c A G 8: 70,748,413 N420S probably damaging Het
Plec C T 15: 76,180,341 R1911H probably damaging Het
Rnf19b A G 4: 129,071,820 H237R probably damaging Het
Slfn4 T C 11: 83,186,974 L196P possibly damaging Het
Steap2 G T 5: 5,673,586 F431L probably damaging Het
Tex15 A G 8: 33,582,465 E2680G probably benign Het
Tmprss15 A T 16: 79,087,506 I96N probably damaging Het
Trim34a T G 7: 104,247,831 V34G probably benign Het
Ttyh1 A G 7: 4,130,574 probably benign Het
Wdfy1 A G 1: 79,714,944 S219P probably damaging Het
Zfp738 A T 13: 67,671,481 S117R possibly damaging Het
Other mutations in Usp29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00659:Usp29 APN 7 6962282 missense probably benign 0.06
IGL01588:Usp29 APN 7 6962611 missense probably benign 0.33
IGL02032:Usp29 APN 7 6962018 missense probably benign 0.41
IGL02331:Usp29 APN 7 6962156 missense probably benign 0.16
IGL02551:Usp29 APN 7 6963353 unclassified probably null
IGL02573:Usp29 APN 7 6962618 unclassified probably null
IGL02894:Usp29 APN 7 6961634 missense probably benign 0.00
R0029:Usp29 UTSW 7 6961581 missense probably damaging 0.99
R0142:Usp29 UTSW 7 6962335 missense probably benign 0.12
R0452:Usp29 UTSW 7 6963182 missense possibly damaging 0.82
R0680:Usp29 UTSW 7 6962885 missense possibly damaging 0.92
R1161:Usp29 UTSW 7 6961530 missense probably damaging 1.00
R2391:Usp29 UTSW 7 6963771 unclassified probably null
R3104:Usp29 UTSW 7 6962053 nonsense probably null
R4119:Usp29 UTSW 7 6962806 missense probably benign 0.03
R4490:Usp29 UTSW 7 6961950 missense possibly damaging 0.68
R4598:Usp29 UTSW 7 6962480 missense probably benign 0.06
R4606:Usp29 UTSW 7 6963357 unclassified probably null
R4670:Usp29 UTSW 7 6962915 missense possibly damaging 0.91
R4777:Usp29 UTSW 7 6962748 missense probably benign 0.07
R4783:Usp29 UTSW 7 6961391 missense probably damaging 1.00
R4785:Usp29 UTSW 7 6961391 missense probably damaging 1.00
R4896:Usp29 UTSW 7 6962159 missense probably benign 0.29
R4915:Usp29 UTSW 7 6961505 missense probably benign
R4944:Usp29 UTSW 7 6961928 missense possibly damaging 0.92
R5004:Usp29 UTSW 7 6962159 missense probably benign 0.29
R5171:Usp29 UTSW 7 6962075 missense probably damaging 0.99
R5268:Usp29 UTSW 7 6961584 missense probably damaging 0.98
R5572:Usp29 UTSW 7 6962192 missense probably benign 0.12
R5933:Usp29 UTSW 7 6961745 missense probably benign
R6694:Usp29 UTSW 7 6962277 missense probably benign 0.03
R7389:Usp29 UTSW 7 6963458 missense possibly damaging 0.82
R7446:Usp29 UTSW 7 6961220 missense possibly damaging 0.93
R7447:Usp29 UTSW 7 6961220 missense possibly damaging 0.93
R7535:Usp29 UTSW 7 6961220 missense possibly damaging 0.93
R7537:Usp29 UTSW 7 6961220 missense possibly damaging 0.93
Posted On2014-05-07