Incidental Mutation 'IGL03242:Ugt2b35'
ID414865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ugt2b35
Ensembl Gene ENSMUSG00000035811
Gene NameUDP glucuronosyltransferase 2 family, polypeptide B35
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL03242
Quality Score
Status
Chromosome5
Chromosomal Location87000860-87013275 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87007395 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 363 (L363P)
Ref Sequence ENSEMBL: ENSMUSP00000031186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031186]
Predicted Effect probably damaging
Transcript: ENSMUST00000031186
AA Change: L363P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031186
Gene: ENSMUSG00000035811
AA Change: L363P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UDPGT 24 526 1e-253 PFAM
Pfam:Glyco_tran_28_C 338 449 1.9e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik T C 6: 48,932,545 F575L possibly damaging Het
4930562C15Rik T C 16: 4,849,325 W221R unknown Het
Ank2 A G 3: 126,928,805 F1000L possibly damaging Het
Bahcc1 T C 11: 120,268,300 probably benign Het
BC024139 T C 15: 76,120,320 M679V probably benign Het
BC027072 A G 17: 71,750,271 S804P probably benign Het
Carmil2 A G 8: 105,691,320 probably benign Het
Catsperg2 A G 7: 29,725,479 probably benign Het
Chrnb4 A T 9: 55,035,528 I154K probably damaging Het
Clec2e A C 6: 129,095,026 L130W probably damaging Het
Coro2b G T 9: 62,428,961 Y281* probably null Het
Dlk2 A G 17: 46,302,977 Y386C probably benign Het
Dnah7a A T 1: 53,620,723 F709I probably benign Het
Exoc1 T C 5: 76,559,007 L467P probably damaging Het
Fkbp2 A G 19: 6,978,612 V75A probably benign Het
Glud1 T C 14: 34,334,280 F304L probably benign Het
Gm11639 A C 11: 105,106,404 E140A probably damaging Het
Gsr T A 8: 33,685,599 V291E probably benign Het
Kap A G 6: 133,851,800 probably benign Het
Kmt2a G T 9: 44,848,392 T720N probably damaging Het
Lrrtm4 T C 6: 80,022,088 I161T probably benign Het
Lyst T A 13: 13,656,881 L1630* probably null Het
Med13l A G 5: 118,747,445 S1488G probably benign Het
Mlxip A G 5: 123,440,061 K147E probably damaging Het
Nalcn T C 14: 123,321,487 E810G possibly damaging Het
Olfr474 T C 7: 107,955,481 V280A possibly damaging Het
Olfr683 G A 7: 105,144,266 S15F probably benign Het
Olfr710 A G 7: 106,944,918 F28L possibly damaging Het
Piezo2 T C 18: 63,011,538 probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Serpina3j G A 12: 104,319,701 A372T possibly damaging Het
Slc28a3 G A 13: 58,574,249 Q274* probably null Het
Ssfa2 C T 2: 79,643,471 R189* probably null Het
Stk36 T C 1: 74,623,352 F543S possibly damaging Het
Tfrc T C 16: 32,630,112 S690P probably damaging Het
Tg C A 15: 66,683,798 Q780K probably damaging Het
Top1 T A 2: 160,715,733 H578Q probably damaging Het
Treh A G 9: 44,685,337 T463A possibly damaging Het
Treml1 G A 17: 48,365,988 probably benign Het
Trpm2 A G 10: 77,917,734 V1312A probably benign Het
Ttc41 T A 10: 86,776,819 *1319K probably null Het
Tulp2 A G 7: 45,521,858 I354M probably damaging Het
Usp13 A T 3: 32,902,069 M496L probably benign Het
Virma T C 4: 11,527,669 S1187P possibly damaging Het
Wdr76 T A 2: 121,542,470 C593S probably damaging Het
Zfp446 G A 7: 12,979,325 A97T probably damaging Het
Other mutations in Ugt2b35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00703:Ugt2b35 APN 5 87008192 missense probably benign 0.00
IGL01109:Ugt2b35 APN 5 87008306 missense probably damaging 1.00
IGL01586:Ugt2b35 APN 5 87011391 missense probably benign 0.07
IGL02151:Ugt2b35 APN 5 87003282 missense possibly damaging 0.65
IGL02225:Ugt2b35 APN 5 87007405 splice site probably benign
IGL02483:Ugt2b35 APN 5 87001145 missense possibly damaging 0.87
IGL02504:Ugt2b35 APN 5 87001541 missense possibly damaging 0.50
IGL02690:Ugt2b35 APN 5 87001237 missense probably benign 0.01
IGL02954:Ugt2b35 APN 5 87011321 missense probably benign 0.00
R0329:Ugt2b35 UTSW 5 87003405 missense probably null 0.38
R0513:Ugt2b35 UTSW 5 87003412 splice site probably benign
R0571:Ugt2b35 UTSW 5 87000934 missense possibly damaging 0.51
R0827:Ugt2b35 UTSW 5 87008130 splice site probably benign
R1396:Ugt2b35 UTSW 5 87011530 missense possibly damaging 0.56
R1437:Ugt2b35 UTSW 5 87001031 missense probably benign 0.02
R1557:Ugt2b35 UTSW 5 87007297 splice site probably null
R1869:Ugt2b35 UTSW 5 87001288 missense probably damaging 1.00
R1937:Ugt2b35 UTSW 5 87001282 missense probably damaging 1.00
R2067:Ugt2b35 UTSW 5 87001553 missense probably damaging 1.00
R2219:Ugt2b35 UTSW 5 87003332 missense possibly damaging 0.81
R3055:Ugt2b35 UTSW 5 87001598 missense probably benign 0.05
R3793:Ugt2b35 UTSW 5 87001606 missense probably benign 0.15
R4452:Ugt2b35 UTSW 5 87003378 missense probably damaging 0.99
R4548:Ugt2b35 UTSW 5 87008275 nonsense probably null
R4902:Ugt2b35 UTSW 5 87003300 missense possibly damaging 0.89
R5311:Ugt2b35 UTSW 5 87011280 nonsense probably null
R6187:Ugt2b35 UTSW 5 87007322 missense probably damaging 0.98
R6332:Ugt2b35 UTSW 5 87001556 missense probably damaging 1.00
R6719:Ugt2b35 UTSW 5 87007388 missense probably damaging 1.00
R7211:Ugt2b35 UTSW 5 87001318 missense probably benign 0.39
Posted On2016-08-02