Incidental Mutation 'IGL03239:Usp35'
ID414209
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp35
Ensembl Gene ENSMUSG00000035713
Gene Nameubiquitin specific peptidase 35
SynonymsLOC381901, LOC244144
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #IGL03239
Quality Score
Status
Chromosome7
Chromosomal Location97309380-97332020 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 97321592 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 336 (T336A)
Ref Sequence ENSEMBL: ENSMUSP00000137927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000139582] [ENSMUST00000168435]
Predicted Effect possibly damaging
Transcript: ENSMUST00000139582
AA Change: T336A

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137726
Gene: ENSMUSG00000035713
AA Change: T336A

DomainStartEndE-ValueType
low complexity region 86 102 N/A INTRINSIC
Pfam:UCH 440 915 5.2e-50 PFAM
Pfam:UCH_1 441 890 1.5e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000168435
AA Change: T336A

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137927
Gene: ENSMUSG00000035713
AA Change: T336A

DomainStartEndE-ValueType
low complexity region 86 102 N/A INTRINSIC
Pfam:UCH 440 915 7.1e-48 PFAM
Pfam:UCH_1 441 890 7.4e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181354
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,233,976 Y309C probably damaging Het
Arvcf G T 16: 18,397,067 V44L probably damaging Het
Catsperg2 T G 7: 29,697,716 S1121R probably benign Het
Ccdc190 G T 1: 169,933,980 R217L probably benign Het
Chd8 G A 14: 52,227,548 P619S possibly damaging Het
Cyp17a1 A T 19: 46,667,357 W498R probably damaging Het
Dgka A G 10: 128,721,385 probably benign Het
Ep300 A G 15: 81,641,388 D1471G unknown Het
Htr2b A G 1: 86,099,692 F364S probably damaging Het
Kcnv1 A G 15: 45,109,490 probably benign Het
Lrrc37a T C 11: 103,499,407 T1731A probably benign Het
Mylip A G 13: 45,406,625 E179G possibly damaging Het
Olfm3 A G 3: 115,122,594 R392G probably damaging Het
Pbk T A 14: 65,817,218 D266E probably benign Het
Pcdhb13 C A 18: 37,442,835 L89M probably damaging Het
Prdm5 T G 6: 65,886,078 probably benign Het
Rab3gap2 A G 1: 185,249,894 D381G probably damaging Het
Sec24d A G 3: 123,336,489 N434D probably benign Het
Tmem246 T C 4: 49,586,034 Y378C probably damaging Het
Usp17la C T 7: 104,860,620 T144I possibly damaging Het
Other mutations in Usp35
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0046:Usp35 UTSW 7 97313597 splice site probably null
R0046:Usp35 UTSW 7 97313597 splice site probably null
R0739:Usp35 UTSW 7 97311667 nonsense probably null
R2655:Usp35 UTSW 7 97312147 missense probably benign
R3623:Usp35 UTSW 7 97312620 missense probably damaging 1.00
R4750:Usp35 UTSW 7 97310339 missense possibly damaging 0.85
R4967:Usp35 UTSW 7 97313575 missense probably damaging 1.00
R5317:Usp35 UTSW 7 97311639 missense probably damaging 0.99
R5341:Usp35 UTSW 7 97325927 missense probably damaging 1.00
R5761:Usp35 UTSW 7 97312351 missense probably benign 0.00
R5894:Usp35 UTSW 7 97313077 missense probably damaging 1.00
R6113:Usp35 UTSW 7 97324326 missense probably damaging 1.00
R6282:Usp35 UTSW 7 97325948 missense probably damaging 1.00
R6454:Usp35 UTSW 7 97311560 missense probably damaging 0.98
R6454:Usp35 UTSW 7 97311644 nonsense probably null
R7142:Usp35 UTSW 7 97311547 missense probably damaging 0.97
R7158:Usp35 UTSW 7 97325964 start codon destroyed probably null 0.89
R7260:Usp35 UTSW 7 97320079 missense probably damaging 0.98
RF003:Usp35 UTSW 7 97322096 missense possibly damaging 0.88
Posted On2016-08-02