Incidental Mutation 'R1073:Ugt2b38'
ID 85520
Institutional Source Beutler Lab
Gene Symbol Ugt2b38
Ensembl Gene ENSMUSG00000061906
Gene Name UDP glucuronosyltransferase 2 family, polypeptide B38
Synonyms 9430041C03Rik
MMRRC Submission 039159-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R1073 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 87557801-87572062 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 87560232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Histidine at position 361 (N361H)
Ref Sequence ENSEMBL: ENSMUSP00000072598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072818]
AlphaFold Q91WH2
Predicted Effect probably damaging
Transcript: ENSMUST00000072818
AA Change: N361H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072598
Gene: ENSMUSG00000061906
AA Change: N361H

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 0.8618 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.5%
  • 20x: 94.5%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap3 T C 4: 135,963,742 (GRCm39) I334T probably damaging Het
Atxn7l3 C G 11: 102,183,261 (GRCm39) probably benign Het
Cacna2d3 T A 14: 28,767,580 (GRCm39) H765L probably damaging Het
Cngb1 A G 8: 96,030,195 (GRCm39) probably null Het
Csmd1 C T 8: 16,408,477 (GRCm39) probably benign Het
Cux1 A T 5: 136,281,395 (GRCm39) probably null Het
D7Ertd443e T C 7: 133,871,947 (GRCm39) K232R probably damaging Het
Dock6 A G 9: 21,757,814 (GRCm39) S97P probably benign Het
Eml5 G A 12: 98,797,232 (GRCm39) A1099V probably damaging Het
Gtf2h1 G A 7: 46,466,368 (GRCm39) A472T probably damaging Het
Krt82 T A 15: 101,458,689 (GRCm39) D117V probably damaging Het
Lrfn5 A G 12: 61,887,595 (GRCm39) Y461C probably damaging Het
Mmrn2 G A 14: 34,118,251 (GRCm39) probably null Het
Mrtfb T A 16: 13,230,182 (GRCm39) S956T possibly damaging Het
Msrb3 T A 10: 120,620,041 (GRCm39) S93C possibly damaging Het
Ncl AAAGCCTCCC AAAGCCTCCCAAGCCTCCC 1: 86,278,538 (GRCm39) probably benign Het
Or8k41 A G 2: 86,313,984 (GRCm39) I34T probably damaging Het
Osbpl10 C T 9: 115,036,621 (GRCm39) Q381* probably null Het
Pelp1 A G 11: 70,287,416 (GRCm39) L464P probably damaging Het
Pigs A G 11: 78,226,431 (GRCm39) D216G probably benign Het
Ptprk T C 10: 28,372,943 (GRCm39) probably null Het
Pyroxd1 T C 6: 142,294,370 (GRCm39) probably null Het
Ros1 T A 10: 51,922,221 (GRCm39) D2284V probably damaging Het
Rptor T C 11: 119,634,717 (GRCm39) S178P possibly damaging Het
Slc8a1 C T 17: 81,955,836 (GRCm39) D401N probably damaging Het
Tas2r143 T C 6: 42,377,694 (GRCm39) Y175H probably benign Het
Tdrd9 T C 12: 111,989,693 (GRCm39) S502P probably damaging Het
Tmem38a A G 8: 73,333,947 (GRCm39) H142R probably damaging Het
Tmem44 A G 16: 30,333,651 (GRCm39) probably benign Het
Umod A G 7: 119,063,964 (GRCm39) V614A possibly damaging Het
Vmn2r5 A T 3: 64,398,726 (GRCm39) L751* probably null Het
Wdr37 A T 13: 8,855,876 (GRCm39) I489N probably damaging Het
Xdh T C 17: 74,246,831 (GRCm39) T78A probably benign Het
Zfp866 A T 8: 70,220,272 (GRCm39) probably benign Het
Other mutations in Ugt2b38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Ugt2b38 APN 5 87,559,682 (GRCm39) missense probably damaging 1.00
IGL02326:Ugt2b38 APN 5 87,571,592 (GRCm39) missense probably damaging 1.00
IGL02537:Ugt2b38 APN 5 87,569,590 (GRCm39) missense possibly damaging 0.91
IGL02543:Ugt2b38 APN 5 87,571,342 (GRCm39) missense probably benign 0.00
IGL02852:Ugt2b38 APN 5 87,559,600 (GRCm39) missense probably benign
IGL03008:Ugt2b38 APN 5 87,560,282 (GRCm39) missense probably benign 0.00
over_easy UTSW 5 87,571,601 (GRCm39) missense probably benign 0.25
R0089:Ugt2b38 UTSW 5 87,568,417 (GRCm39) missense probably benign 0.00
R0647:Ugt2b38 UTSW 5 87,571,328 (GRCm39) missense probably benign 0.00
R0731:Ugt2b38 UTSW 5 87,568,311 (GRCm39) missense probably damaging 1.00
R0837:Ugt2b38 UTSW 5 87,559,632 (GRCm39) missense probably damaging 1.00
R0966:Ugt2b38 UTSW 5 87,560,232 (GRCm39) missense probably damaging 1.00
R0969:Ugt2b38 UTSW 5 87,560,232 (GRCm39) missense probably damaging 1.00
R0970:Ugt2b38 UTSW 5 87,560,232 (GRCm39) missense probably damaging 1.00
R0971:Ugt2b38 UTSW 5 87,560,232 (GRCm39) missense probably damaging 1.00
R1068:Ugt2b38 UTSW 5 87,560,232 (GRCm39) missense probably damaging 1.00
R1070:Ugt2b38 UTSW 5 87,560,232 (GRCm39) missense probably damaging 1.00
R1071:Ugt2b38 UTSW 5 87,560,232 (GRCm39) missense probably damaging 1.00
R1133:Ugt2b38 UTSW 5 87,560,232 (GRCm39) missense probably damaging 1.00
R1134:Ugt2b38 UTSW 5 87,560,232 (GRCm39) missense probably damaging 1.00
R1367:Ugt2b38 UTSW 5 87,571,973 (GRCm39) missense probably benign 0.11
R1383:Ugt2b38 UTSW 5 87,560,232 (GRCm39) missense probably damaging 1.00
R1467:Ugt2b38 UTSW 5 87,560,232 (GRCm39) missense probably damaging 1.00
R1467:Ugt2b38 UTSW 5 87,560,232 (GRCm39) missense probably damaging 1.00
R1565:Ugt2b38 UTSW 5 87,559,773 (GRCm39) missense probably damaging 0.99
R1691:Ugt2b38 UTSW 5 87,571,991 (GRCm39) missense probably benign
R1725:Ugt2b38 UTSW 5 87,559,730 (GRCm39) missense probably damaging 1.00
R1736:Ugt2b38 UTSW 5 87,571,492 (GRCm39) missense probably benign
R2230:Ugt2b38 UTSW 5 87,569,527 (GRCm39) missense probably benign 0.05
R2419:Ugt2b38 UTSW 5 87,571,591 (GRCm39) missense probably damaging 1.00
R2496:Ugt2b38 UTSW 5 87,569,551 (GRCm39) missense probably damaging 1.00
R3196:Ugt2b38 UTSW 5 87,558,078 (GRCm39) missense probably damaging 0.96
R3773:Ugt2b38 UTSW 5 87,571,954 (GRCm39) missense probably damaging 0.99
R5125:Ugt2b38 UTSW 5 87,559,671 (GRCm39) missense probably damaging 1.00
R5224:Ugt2b38 UTSW 5 87,571,601 (GRCm39) missense probably benign 0.25
R5516:Ugt2b38 UTSW 5 87,559,702 (GRCm39) missense probably damaging 1.00
R5765:Ugt2b38 UTSW 5 87,571,954 (GRCm39) missense probably damaging 0.99
R6352:Ugt2b38 UTSW 5 87,571,860 (GRCm39) missense possibly damaging 0.73
R7166:Ugt2b38 UTSW 5 87,558,305 (GRCm39) missense probably damaging 1.00
R7210:Ugt2b38 UTSW 5 87,558,284 (GRCm39) missense probably damaging 0.99
R7291:Ugt2b38 UTSW 5 87,559,754 (GRCm39) missense probably damaging 1.00
R7483:Ugt2b38 UTSW 5 87,571,973 (GRCm39) missense probably damaging 0.96
R7969:Ugt2b38 UTSW 5 87,571,891 (GRCm39) missense probably benign 0.02
R8118:Ugt2b38 UTSW 5 87,571,630 (GRCm39) missense probably damaging 1.00
R8239:Ugt2b38 UTSW 5 87,571,659 (GRCm39) missense probably benign 0.02
R8676:Ugt2b38 UTSW 5 87,559,681 (GRCm39) missense probably benign 0.12
R9178:Ugt2b38 UTSW 5 87,568,396 (GRCm39) missense probably damaging 1.00
R9193:Ugt2b38 UTSW 5 87,571,729 (GRCm39) missense probably benign 0.05
R9566:Ugt2b38 UTSW 5 87,558,209 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGGCCCCACCATGAGTTACAAAG -3'
(R):5'- GGCACACTCGTTGCTCAGTCTT -3'

Sequencing Primer
(F):5'- CTCTGTCTCAGAGCTAGAAGAATC -3'
(R):5'- cacacacacacacacacac -3'
Posted On 2013-11-18