Incidental Mutation 'R5631:Ugt3a1'
ID 439876
Institutional Source Beutler Lab
Gene Symbol Ugt3a1
Ensembl Gene ENSMUSG00000072664
Gene Name UDP glycosyltransferases 3 family, polypeptide A1
Synonyms Ugt3a2
MMRRC Submission 043282-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5631 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 9335670-9370960 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9361971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 249 (V249A)
Ref Sequence ENSEMBL: ENSMUSP00000072236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072403]
AlphaFold Q3UP75
Predicted Effect probably damaging
Transcript: ENSMUST00000072403
AA Change: V249A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072236
Gene: ENSMUSG00000049152
AA Change: V249A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:UDPGT 23 521 1.1e-99 PFAM
Pfam:Glyco_tran_28_C 307 450 1.5e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144755
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C A 11: 72,067,590 (GRCm39) V567L possibly damaging Het
Abraxas1 T G 5: 100,965,840 (GRCm39) Y68S probably damaging Het
Adamtsl1 C T 4: 86,195,160 (GRCm39) Q543* probably null Het
Anapc1 T C 2: 128,499,137 (GRCm39) Y845C possibly damaging Het
Ap4m1 A G 5: 138,173,051 (GRCm39) *98W probably null Het
Clock G A 5: 76,378,185 (GRCm39) P572S probably benign Het
Cramp1 T A 17: 25,204,577 (GRCm39) T275S possibly damaging Het
Dock3 T C 9: 106,832,898 (GRCm39) S1038G probably benign Het
Fancm T C 12: 65,160,617 (GRCm39) V1397A probably damaging Het
Fn1 T C 1: 71,629,355 (GRCm39) T2203A probably damaging Het
Gm57858 G C 3: 36,101,026 (GRCm39) Q49E probably damaging Het
Heatr5a T A 12: 52,002,310 (GRCm39) I209F probably benign Het
Hfm1 A G 5: 107,052,629 (GRCm39) S285P probably damaging Het
Hpx A T 7: 105,244,808 (GRCm39) C126S probably damaging Het
Ipo4 A G 14: 55,869,526 (GRCm39) V378A probably damaging Het
Ipo4 C T 14: 55,870,838 (GRCm39) V265I probably benign Het
Kcnv1 T A 15: 44,972,753 (GRCm39) T377S probably damaging Het
Kmt2a A T 9: 44,731,985 (GRCm39) probably benign Het
Ldlrad3 T C 2: 101,900,301 (GRCm39) D67G probably damaging Het
Lrrc71 T A 3: 87,646,456 (GRCm39) M535L probably benign Het
Mfhas1 G A 8: 36,055,573 (GRCm39) R16Q probably damaging Het
Mrc1 A T 2: 14,333,383 (GRCm39) K1355* probably null Het
Mrgprf A G 7: 144,862,283 (GRCm39) I282V probably benign Het
Mvb12b G T 2: 33,717,715 (GRCm39) P142Q probably damaging Het
Naip6 T C 13: 100,436,646 (GRCm39) I626V probably benign Het
Ncoa5 T C 2: 164,855,041 (GRCm39) D27G possibly damaging Het
Nrap T G 19: 56,342,553 (GRCm39) E780A probably benign Het
Oplah T C 15: 76,189,441 (GRCm39) I228V probably benign Het
Or5w1b A T 2: 87,475,952 (GRCm39) S172T probably benign Het
Pkdrej T C 15: 85,704,638 (GRCm39) M433V probably benign Het
Polr3h T A 15: 81,810,113 (GRCm39) probably benign Het
Ppfibp1 T C 6: 146,898,358 (GRCm39) Y105H probably damaging Het
Rplp2 A C 7: 141,031,172 (GRCm39) probably benign Het
Rps6ka4 T C 19: 6,808,345 (GRCm39) probably benign Het
Rspry1 A T 8: 95,355,706 (GRCm39) M1L possibly damaging Het
Runx1 C A 16: 92,492,451 (GRCm39) R64L possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc9a5 C T 8: 106,076,141 (GRCm39) H45Y possibly damaging Het
Smc4 T C 3: 68,937,645 (GRCm39) I890T probably benign Het
Smtnl1 T C 2: 84,649,098 (GRCm39) E52G probably benign Het
Stag3 T A 5: 138,294,139 (GRCm39) I319N probably damaging Het
Stt3b G A 9: 115,083,913 (GRCm39) T421I probably benign Het
Thumpd1 A G 7: 119,319,825 (GRCm39) L47P probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Top2b T C 14: 16,409,882 (GRCm38) Y850H probably damaging Het
Trim34a A T 7: 103,897,946 (GRCm39) E158V probably damaging Het
Trp53i13 C A 11: 77,400,419 (GRCm39) probably null Het
Vmn1r128 G A 7: 21,083,300 (GRCm39) M1I probably null Het
Yars1 T G 4: 129,103,542 (GRCm39) L297R probably damaging Het
Yju2b G T 8: 84,990,510 (GRCm39) Q41K probably damaging Het
Zkscan3 A G 13: 21,578,703 (GRCm39) L176P probably damaging Het
Other mutations in Ugt3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00912:Ugt3a1 APN 15 9,310,698 (GRCm39) missense probably damaging 1.00
IGL01109:Ugt3a1 APN 15 9,367,354 (GRCm39) missense probably damaging 0.99
IGL01131:Ugt3a1 APN 15 9,365,248 (GRCm39) missense probably damaging 1.00
IGL01627:Ugt3a1 APN 15 9,335,806 (GRCm39) missense probably damaging 1.00
IGL01746:Ugt3a1 APN 15 9,361,754 (GRCm39) missense probably damaging 1.00
IGL01752:Ugt3a1 APN 15 9,306,232 (GRCm39) missense probably damaging 1.00
IGL01949:Ugt3a1 APN 15 9,335,815 (GRCm39) missense probably damaging 1.00
IGL02213:Ugt3a1 APN 15 9,370,310 (GRCm39) missense probably benign 0.00
IGL02407:Ugt3a1 APN 15 9,365,316 (GRCm39) nonsense probably null
IGL02438:Ugt3a1 APN 15 9,292,062 (GRCm39) missense possibly damaging 0.90
IGL02588:Ugt3a1 APN 15 9,361,542 (GRCm39) missense probably benign
IGL02894:Ugt3a1 APN 15 9,367,487 (GRCm39) missense probably damaging 1.00
IGL02966:Ugt3a1 APN 15 9,370,154 (GRCm39) missense probably damaging 1.00
IGL03385:Ugt3a1 APN 15 9,338,824 (GRCm39) missense probably damaging 0.99
IGL03493:Ugt3a1 APN 15 9,361,569 (GRCm39) missense probably damaging 0.96
PIT4354001:Ugt3a1 UTSW 15 9,306,446 (GRCm39) nonsense probably null
R0127:Ugt3a1 UTSW 15 9,306,342 (GRCm39) missense probably benign 0.01
R0554:Ugt3a1 UTSW 15 9,351,206 (GRCm39) missense probably benign 0.14
R0647:Ugt3a1 UTSW 15 9,310,635 (GRCm39) missense probably benign 0.00
R0833:Ugt3a1 UTSW 15 9,370,236 (GRCm39) missense probably damaging 0.96
R0841:Ugt3a1 UTSW 15 9,306,214 (GRCm39) missense probably benign 0.07
R1071:Ugt3a1 UTSW 15 9,367,454 (GRCm39) missense possibly damaging 0.82
R1395:Ugt3a1 UTSW 15 9,306,378 (GRCm39) missense possibly damaging 0.92
R1513:Ugt3a1 UTSW 15 9,361,610 (GRCm39) missense probably benign 0.07
R1616:Ugt3a1 UTSW 15 9,306,330 (GRCm39) nonsense probably null
R1844:Ugt3a1 UTSW 15 9,351,254 (GRCm39) missense probably benign 0.07
R1874:Ugt3a1 UTSW 15 9,365,437 (GRCm39) missense probably damaging 1.00
R2305:Ugt3a1 UTSW 15 9,351,203 (GRCm39) missense probably benign
R2338:Ugt3a1 UTSW 15 9,292,059 (GRCm39) splice site probably benign
R3052:Ugt3a1 UTSW 15 9,365,374 (GRCm39) missense probably damaging 1.00
R3755:Ugt3a1 UTSW 15 9,367,498 (GRCm39) missense probably benign 0.21
R3797:Ugt3a1 UTSW 15 9,310,727 (GRCm39) nonsense probably null
R3945:Ugt3a1 UTSW 15 9,370,184 (GRCm39) missense possibly damaging 0.91
R4135:Ugt3a1 UTSW 15 9,338,810 (GRCm39) missense probably damaging 0.98
R4261:Ugt3a1 UTSW 15 9,335,879 (GRCm39) splice site probably null
R4305:Ugt3a1 UTSW 15 9,306,360 (GRCm39) missense possibly damaging 0.92
R4385:Ugt3a1 UTSW 15 9,306,565 (GRCm39) missense probably benign 0.15
R4438:Ugt3a1 UTSW 15 9,351,283 (GRCm39) missense probably benign 0.01
R4570:Ugt3a1 UTSW 15 9,338,807 (GRCm39) missense probably benign 0.12
R4572:Ugt3a1 UTSW 15 9,306,479 (GRCm39) missense probably benign 0.00
R4611:Ugt3a1 UTSW 15 9,306,486 (GRCm39) nonsense probably null
R4744:Ugt3a1 UTSW 15 9,310,639 (GRCm39) missense probably benign 0.36
R4791:Ugt3a1 UTSW 15 9,361,665 (GRCm39) missense probably damaging 1.00
R4957:Ugt3a1 UTSW 15 9,365,274 (GRCm39) missense probably benign 0.27
R5011:Ugt3a1 UTSW 15 9,365,373 (GRCm39) missense probably damaging 1.00
R5035:Ugt3a1 UTSW 15 9,361,704 (GRCm39) missense probably benign 0.01
R5554:Ugt3a1 UTSW 15 9,370,287 (GRCm39) missense probably damaging 1.00
R5573:Ugt3a1 UTSW 15 9,361,769 (GRCm39) missense probably damaging 1.00
R5696:Ugt3a1 UTSW 15 9,361,534 (GRCm39) splice site silent
R5715:Ugt3a1 UTSW 15 9,306,430 (GRCm39) missense probably damaging 0.96
R6036:Ugt3a1 UTSW 15 9,306,172 (GRCm39) missense probably benign 0.01
R6036:Ugt3a1 UTSW 15 9,306,172 (GRCm39) missense probably benign 0.01
R6156:Ugt3a1 UTSW 15 9,310,762 (GRCm39) missense possibly damaging 0.83
R6228:Ugt3a1 UTSW 15 9,310,726 (GRCm39) missense possibly damaging 0.81
R6265:Ugt3a1 UTSW 15 9,361,665 (GRCm39) missense probably damaging 1.00
R6302:Ugt3a1 UTSW 15 9,365,397 (GRCm39) missense probably damaging 1.00
R6311:Ugt3a1 UTSW 15 9,361,604 (GRCm39) nonsense probably null
R6344:Ugt3a1 UTSW 15 9,306,317 (GRCm39) missense probably damaging 0.98
R6380:Ugt3a1 UTSW 15 9,306,541 (GRCm39) missense probably benign 0.00
R6383:Ugt3a1 UTSW 15 9,306,541 (GRCm39) missense probably benign 0.00
R6680:Ugt3a1 UTSW 15 9,370,154 (GRCm39) missense probably damaging 1.00
R6737:Ugt3a1 UTSW 15 9,311,895 (GRCm39) missense probably benign 0.30
R6848:Ugt3a1 UTSW 15 9,280,138 (GRCm39) splice site probably null
R6937:Ugt3a1 UTSW 15 9,292,158 (GRCm39) missense probably benign 0.00
R7061:Ugt3a1 UTSW 15 9,306,240 (GRCm39) missense probably benign 0.12
R7672:Ugt3a1 UTSW 15 9,310,779 (GRCm39) nonsense probably null
R7840:Ugt3a1 UTSW 15 9,311,903 (GRCm39) missense probably damaging 1.00
R7945:Ugt3a1 UTSW 15 9,284,261 (GRCm39) critical splice donor site probably null
R8105:Ugt3a1 UTSW 15 9,306,476 (GRCm39) missense probably benign 0.00
R8229:Ugt3a1 UTSW 15 9,367,463 (GRCm39) missense probably damaging 0.99
R8296:Ugt3a1 UTSW 15 9,362,024 (GRCm39) missense probably benign 0.18
R8414:Ugt3a1 UTSW 15 9,310,669 (GRCm39) missense possibly damaging 0.82
R8809:Ugt3a1 UTSW 15 9,367,345 (GRCm39) missense possibly damaging 0.69
R8981:Ugt3a1 UTSW 15 9,312,014 (GRCm39) missense probably benign 0.20
R9066:Ugt3a1 UTSW 15 9,367,384 (GRCm39) missense possibly damaging 0.94
R9071:Ugt3a1 UTSW 15 9,370,224 (GRCm39) nonsense probably null
R9111:Ugt3a1 UTSW 15 9,306,333 (GRCm39) missense possibly damaging 0.69
R9151:Ugt3a1 UTSW 15 9,362,051 (GRCm39) missense probably benign 0.03
R9451:Ugt3a1 UTSW 15 9,292,158 (GRCm39) missense probably benign 0.00
R9522:Ugt3a1 UTSW 15 9,370,209 (GRCm39) missense probably damaging 1.00
R9567:Ugt3a1 UTSW 15 9,306,370 (GRCm39) missense possibly damaging 0.82
R9609:Ugt3a1 UTSW 15 9,361,905 (GRCm39) missense probably damaging 1.00
R9657:Ugt3a1 UTSW 15 9,280,133 (GRCm39) missense probably damaging 0.98
Z1177:Ugt3a1 UTSW 15 9,367,343 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CTGACCAAATGGACTTCTGGGG -3'
(R):5'- AGTGTAGGCTGCAAATATCTCCC -3'

Sequencing Primer
(F):5'- GCCGAGTGAAGAACTTTCTGATG -3'
(R):5'- TCAGGACATCTCTGACAAGTG -3'
Posted On 2016-11-08