Incidental Mutation 'IGL00401:Ugt2b37'
ID6412
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ugt2b37
Ensembl Gene ENSMUSG00000057425
Gene NameUDP glucuronosyltransferase 2 family, polypeptide B37
Synonyms0610033E06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL00401
Quality Score
Status
Chromosome5
Chromosomal Location87240493-87254804 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 87242481 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 369 (T369S)
Ref Sequence ENSEMBL: ENSMUSP00000075255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075858]
Predicted Effect possibly damaging
Transcript: ENSMUST00000075858
AA Change: T369S

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075255
Gene: ENSMUSG00000057425
AA Change: T369S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UDPGT 24 527 5.5e-256 PFAM
Pfam:Glyco_tran_28_C 328 449 2.5e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk T A 17: 71,895,748 D1164V probably damaging Het
Baiap3 T G 17: 25,244,328 L964F probably damaging Het
Cacna2d2 T A 9: 107,514,873 V471E probably damaging Het
Carmil3 C T 14: 55,498,298 T569M probably damaging Het
Dapk2 G T 9: 66,268,778 probably benign Het
Eps15l1 A T 8: 72,384,838 Y291* probably null Het
Fancd2 T C 6: 113,564,396 probably null Het
Fmnl2 T G 2: 53,114,917 D674E probably damaging Het
Foxq1 A T 13: 31,559,277 I121F probably damaging Het
Galnt13 C T 2: 54,516,535 probably benign Het
Git1 T C 11: 77,498,956 probably benign Het
Gm10220 A T 5: 26,118,611 F146Y possibly damaging Het
Gm7353 A G 7: 3,110,630 noncoding transcript Het
Hspa9 G A 18: 34,938,580 probably benign Het
Kptn A G 7: 16,120,125 D56G possibly damaging Het
Krtap4-13 A T 11: 99,809,717 C39S unknown Het
Lgsn A G 1: 31,203,566 K243R possibly damaging Het
Lyz2 C T 10: 117,282,185 V20I probably benign Het
Mettl3 T A 14: 52,296,967 probably benign Het
Myh6 T A 14: 54,953,417 M934L probably benign Het
Nmnat2 A G 1: 153,094,117 probably null Het
Pias2 T A 18: 77,133,211 C381S probably damaging Het
Psme4 T C 11: 30,821,079 probably benign Het
Smc4 T A 3: 69,030,379 D887E probably damaging Het
Sorcs2 C A 5: 36,037,401 probably null Het
Tet2 T C 3: 133,466,882 E1873G possibly damaging Het
Txlng T A X: 162,782,309 K341* probably null Het
Usp46 C A 5: 74,003,171 V302F probably damaging Het
Zfp292 A G 4: 34,808,683 C1454R probably benign Het
Other mutations in Ugt2b37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00567:Ugt2b37 APN 5 87254074 missense probably damaging 1.00
IGL00787:Ugt2b37 APN 5 87242429 missense probably benign 0.00
IGL01560:Ugt2b37 APN 5 87251839 missense probably damaging 1.00
IGL01617:Ugt2b37 APN 5 87251879 missense probably damaging 1.00
IGL01982:Ugt2b37 APN 5 87242432 missense probably damaging 1.00
IGL02299:Ugt2b37 APN 5 87242315 missense probably benign 0.00
IGL02323:Ugt2b37 APN 5 87250564 splice site probably benign
IGL02326:Ugt2b37 APN 5 87241002 missense probably benign 0.25
IGL02516:Ugt2b37 APN 5 87240882 missense probably damaging 1.00
IGL03285:Ugt2b37 APN 5 87240875 missense probably damaging 1.00
R0076:Ugt2b37 UTSW 5 87254221 missense probably benign 0.31
R0141:Ugt2b37 UTSW 5 87240983 missense probably damaging 1.00
R0312:Ugt2b37 UTSW 5 87250665 missense probably damaging 1.00
R0359:Ugt2b37 UTSW 5 87250584 missense probably benign 0.10
R0523:Ugt2b37 UTSW 5 87251832 missense possibly damaging 0.91
R1938:Ugt2b37 UTSW 5 87240857 missense probably damaging 1.00
R1962:Ugt2b37 UTSW 5 87254334 missense probably damaging 1.00
R2496:Ugt2b37 UTSW 5 87254710 missense probably damaging 0.97
R3704:Ugt2b37 UTSW 5 87242987 missense possibly damaging 0.55
R4430:Ugt2b37 UTSW 5 87254092 missense probably benign 0.00
R4825:Ugt2b37 UTSW 5 87250639 missense possibly damaging 0.91
R5043:Ugt2b37 UTSW 5 87251860 nonsense probably null
R5098:Ugt2b37 UTSW 5 87242953 missense probably damaging 1.00
R5174:Ugt2b37 UTSW 5 87251880 missense probably benign 0.00
R5522:Ugt2b37 UTSW 5 87240900 missense probably benign 0.14
R5879:Ugt2b37 UTSW 5 87254406 missense probably benign
R5999:Ugt2b37 UTSW 5 87254177 missense probably benign 0.25
R6374:Ugt2b37 UTSW 5 87242420 missense probably damaging 1.00
R6454:Ugt2b37 UTSW 5 87240977 missense probably damaging 1.00
R6857:Ugt2b37 UTSW 5 87240846 missense probably damaging 0.98
R6875:Ugt2b37 UTSW 5 87242429 missense probably benign 0.00
R6916:Ugt2b37 UTSW 5 87254600 missense probably benign 0.07
R7099:Ugt2b37 UTSW 5 87240989 missense probably benign 0.00
R7239:Ugt2b37 UTSW 5 87254731 missense probably benign
R7470:Ugt2b37 UTSW 5 87254112 missense probably benign 0.24
Posted On2012-04-20