Incidental Mutation 'R0837:Ugt2b38'
ID 77985
Institutional Source Beutler Lab
Gene Symbol Ugt2b38
Ensembl Gene ENSMUSG00000061906
Gene Name UDP glucuronosyltransferase 2 family, polypeptide B38
Synonyms
MMRRC Submission 039016-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R0837 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 87409942-87424203 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87411773 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 420 (T420I)
Ref Sequence ENSEMBL: ENSMUSP00000072598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072818]
AlphaFold Q91WH2
Predicted Effect probably damaging
Transcript: ENSMUST00000072818
AA Change: T420I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072598
Gene: ENSMUSG00000061906
AA Change: T420I

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UDPGT 24 527 4.1e-255 PFAM
Pfam:Glyco_tran_28_C 330 444 1.2e-7 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 96% (44/46)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563I02Rik T C 14: 60,095,926 (GRCm38) probably benign Het
4930579C12Rik A G 9: 89,168,207 (GRCm38) noncoding transcript Het
Adam34 T A 8: 43,651,500 (GRCm38) K369N probably benign Het
Ap1g1 T C 8: 109,851,065 (GRCm38) W481R probably damaging Het
Bicdl1 G A 5: 115,731,292 (GRCm38) P26S probably benign Het
Cacna1c A T 6: 118,630,270 (GRCm38) C1224* probably null Het
Cpsf2 C T 12: 101,997,242 (GRCm38) probably benign Het
Cyp11b2 G A 15: 74,853,641 (GRCm38) R210W probably damaging Het
Dock7 C T 4: 98,989,258 (GRCm38) V1048I probably benign Het
Dync2h1 C A 9: 7,077,979 (GRCm38) A2908S probably benign Het
Elane A G 10: 79,887,108 (GRCm38) D116G probably damaging Het
Epb41l2 C T 10: 25,507,816 (GRCm38) R153C probably damaging Het
Gucy2c G A 6: 136,722,420 (GRCm38) P617L probably damaging Het
Hist2h2ab G A 3: 96,220,123 (GRCm38) A70T probably damaging Het
Kcnq4 T A 4: 120,746,861 (GRCm38) I106L probably benign Het
Man2b1 A G 8: 85,096,829 (GRCm38) N931D possibly damaging Het
Mthfs A G 9: 89,215,390 (GRCm38) E100G probably damaging Het
Mto1 A T 9: 78,473,790 (GRCm38) I639F probably damaging Het
Myo15 A G 11: 60,487,251 (GRCm38) E177G probably damaging Het
Naip5 T A 13: 100,230,743 (GRCm38) M282L probably benign Het
Olfr433 A G 1: 174,042,487 (GRCm38) D179G probably damaging Het
Pik3c2g G A 6: 139,957,699 (GRCm38) probably benign Het
Prl7d1 T A 13: 27,714,338 (GRCm38) M64L probably benign Het
Prnp A T 2: 131,936,524 (GRCm38) N32I probably damaging Het
Ptpn11 C T 5: 121,149,111 (GRCm38) V406I probably benign Het
Rab40c G A 17: 25,884,693 (GRCm38) T151I probably damaging Het
Rb1cc1 T A 1: 6,234,271 (GRCm38) probably null Het
Rnf145 T C 11: 44,524,988 (GRCm38) V10A probably benign Het
Rtn4rl2 T C 2: 84,880,692 (GRCm38) N70S probably damaging Het
Scaper A T 9: 55,859,042 (GRCm38) C483* probably null Het
Sema4a T A 3: 88,453,098 (GRCm38) Q58L possibly damaging Het
Slf1 T C 13: 77,100,948 (GRCm38) probably null Het
Sycp1 G T 3: 102,915,245 (GRCm38) N364K probably benign Het
Tenm4 T C 7: 96,896,275 (GRCm38) probably benign Het
Tnfaip2 A G 12: 111,450,707 (GRCm38) T537A probably damaging Het
Trappc12 A G 12: 28,703,597 (GRCm38) I573T possibly damaging Het
Ulk1 A T 5: 110,789,545 (GRCm38) probably benign Het
Unc80 G A 1: 66,648,944 (GRCm38) C2367Y possibly damaging Het
Usp7 C A 16: 8,703,502 (GRCm38) G135C probably damaging Het
Vmn2r103 A G 17: 19,793,927 (GRCm38) Y327C probably damaging Het
Vmn2r28 T A 7: 5,488,027 (GRCm38) H407L probably damaging Het
Zfp804a A C 2: 82,259,162 (GRCm38) T1112P probably damaging Het
Zfr2 A G 10: 81,245,408 (GRCm38) K431E probably damaging Het
Zfy1 A T Y: 725,850 (GRCm38) Y638* probably null Het
Other mutations in Ugt2b38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Ugt2b38 APN 5 87,411,823 (GRCm38) missense probably damaging 1.00
IGL02326:Ugt2b38 APN 5 87,423,733 (GRCm38) missense probably damaging 1.00
IGL02537:Ugt2b38 APN 5 87,421,731 (GRCm38) missense possibly damaging 0.91
IGL02543:Ugt2b38 APN 5 87,423,483 (GRCm38) missense probably benign 0.00
IGL02852:Ugt2b38 APN 5 87,411,741 (GRCm38) missense probably benign
IGL03008:Ugt2b38 APN 5 87,412,423 (GRCm38) missense probably benign 0.00
over_easy UTSW 5 87,423,742 (GRCm38) missense probably benign 0.25
R0089:Ugt2b38 UTSW 5 87,420,558 (GRCm38) missense probably benign 0.00
R0647:Ugt2b38 UTSW 5 87,423,469 (GRCm38) missense probably benign 0.00
R0731:Ugt2b38 UTSW 5 87,420,452 (GRCm38) missense probably damaging 1.00
R0966:Ugt2b38 UTSW 5 87,412,373 (GRCm38) missense probably damaging 1.00
R0969:Ugt2b38 UTSW 5 87,412,373 (GRCm38) missense probably damaging 1.00
R0970:Ugt2b38 UTSW 5 87,412,373 (GRCm38) missense probably damaging 1.00
R0971:Ugt2b38 UTSW 5 87,412,373 (GRCm38) missense probably damaging 1.00
R1068:Ugt2b38 UTSW 5 87,412,373 (GRCm38) missense probably damaging 1.00
R1070:Ugt2b38 UTSW 5 87,412,373 (GRCm38) missense probably damaging 1.00
R1071:Ugt2b38 UTSW 5 87,412,373 (GRCm38) missense probably damaging 1.00
R1073:Ugt2b38 UTSW 5 87,412,373 (GRCm38) missense probably damaging 1.00
R1133:Ugt2b38 UTSW 5 87,412,373 (GRCm38) missense probably damaging 1.00
R1134:Ugt2b38 UTSW 5 87,412,373 (GRCm38) missense probably damaging 1.00
R1367:Ugt2b38 UTSW 5 87,424,114 (GRCm38) missense probably benign 0.11
R1383:Ugt2b38 UTSW 5 87,412,373 (GRCm38) missense probably damaging 1.00
R1467:Ugt2b38 UTSW 5 87,412,373 (GRCm38) missense probably damaging 1.00
R1467:Ugt2b38 UTSW 5 87,412,373 (GRCm38) missense probably damaging 1.00
R1565:Ugt2b38 UTSW 5 87,411,914 (GRCm38) missense probably damaging 0.99
R1691:Ugt2b38 UTSW 5 87,424,132 (GRCm38) missense probably benign
R1725:Ugt2b38 UTSW 5 87,411,871 (GRCm38) missense probably damaging 1.00
R1736:Ugt2b38 UTSW 5 87,423,633 (GRCm38) missense probably benign
R2230:Ugt2b38 UTSW 5 87,421,668 (GRCm38) missense probably benign 0.05
R2419:Ugt2b38 UTSW 5 87,423,732 (GRCm38) missense probably damaging 1.00
R2496:Ugt2b38 UTSW 5 87,421,692 (GRCm38) missense probably damaging 1.00
R3196:Ugt2b38 UTSW 5 87,410,219 (GRCm38) missense probably damaging 0.96
R3773:Ugt2b38 UTSW 5 87,424,095 (GRCm38) missense probably damaging 0.99
R5125:Ugt2b38 UTSW 5 87,411,812 (GRCm38) missense probably damaging 1.00
R5224:Ugt2b38 UTSW 5 87,423,742 (GRCm38) missense probably benign 0.25
R5516:Ugt2b38 UTSW 5 87,411,843 (GRCm38) missense probably damaging 1.00
R5765:Ugt2b38 UTSW 5 87,424,095 (GRCm38) missense probably damaging 0.99
R6352:Ugt2b38 UTSW 5 87,424,001 (GRCm38) missense possibly damaging 0.73
R7166:Ugt2b38 UTSW 5 87,410,446 (GRCm38) missense probably damaging 1.00
R7210:Ugt2b38 UTSW 5 87,410,425 (GRCm38) missense probably damaging 0.99
R7291:Ugt2b38 UTSW 5 87,411,895 (GRCm38) missense probably damaging 1.00
R7483:Ugt2b38 UTSW 5 87,424,114 (GRCm38) missense probably damaging 0.96
R7969:Ugt2b38 UTSW 5 87,424,032 (GRCm38) missense probably benign 0.02
R8118:Ugt2b38 UTSW 5 87,423,771 (GRCm38) missense probably damaging 1.00
R8239:Ugt2b38 UTSW 5 87,423,800 (GRCm38) missense probably benign 0.02
R8676:Ugt2b38 UTSW 5 87,411,822 (GRCm38) missense probably benign 0.12
R9178:Ugt2b38 UTSW 5 87,420,537 (GRCm38) missense probably damaging 1.00
R9193:Ugt2b38 UTSW 5 87,423,870 (GRCm38) missense probably benign 0.05
R9566:Ugt2b38 UTSW 5 87,410,350 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCTTCTTTTGAAGTGTTGGACAGGAC -3'
(R):5'- AAGCCTTTGTAACTCATGGTGGGG -3'

Sequencing Primer
(F):5'- CAGGACTATCAAGATCATTCTTGGC -3'
(R):5'- TAACTCATGGTGGGGCCAATG -3'
Posted On 2013-10-16