Incidental Mutation 'R3747:Ugt1a6a'
ID 309833
Institutional Source Beutler Lab
Gene Symbol Ugt1a6a
Ensembl Gene ENSMUSG00000054545
Gene Name UDP glucuronosyltransferase 1 family, polypeptide A6A
Synonyms Ugt1a6, UGT1.6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R3747 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 88062531-88146719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88066871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 226 (Y226H)
Ref Sequence ENSEMBL: ENSMUSP00000108760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014263] [ENSMUST00000058237] [ENSMUST00000073772] [ENSMUST00000113134] [ENSMUST00000113135] [ENSMUST00000113137] [ENSMUST00000150634] [ENSMUST00000173325] [ENSMUST00000140092] [ENSMUST00000113139] [ENSMUST00000138182] [ENSMUST00000113142] [ENSMUST00000126203] [ENSMUST00000113138]
AlphaFold Q64435
Predicted Effect probably damaging
Transcript: ENSMUST00000014263
AA Change: Y226H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000014263
Gene: ENSMUSG00000054545
AA Change: Y226H

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UDPGT 27 522 1.2e-229 PFAM
Pfam:Glyco_tran_28_C 363 448 1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058237
SMART Domains Protein: ENSMUSP00000058683
Gene: ENSMUSG00000090124

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 522 1.5e-234 PFAM
Pfam:Glyco_tran_28_C 361 450 4.5e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000073772
SMART Domains Protein: ENSMUSP00000073444
Gene: ENSMUSG00000090175

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UDPGT 24 519 2.3e-232 PFAM
Pfam:Glyco_tran_28_C 358 447 4.5e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113134
AA Change: Y226H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108759
Gene: ENSMUSG00000054545
AA Change: Y226H

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UDPGT 27 522 2.7e-232 PFAM
Pfam:Glyco_tran_28_C 361 450 4.5e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113135
AA Change: Y226H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108760
Gene: ENSMUSG00000090124
AA Change: Y226H

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UDPGT 27 522 1.2e-229 PFAM
Pfam:Glyco_tran_28_C 363 448 1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113137
SMART Domains Protein: ENSMUSP00000108762
Gene: ENSMUSG00000090145

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UDPGT 27 522 1.3e-231 PFAM
Pfam:Glyco_tran_28_C 361 450 2.8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173165
Predicted Effect probably benign
Transcript: ENSMUST00000150634
SMART Domains Protein: ENSMUSP00000123452
Gene: ENSMUSG00000090124

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 62 9.5e-11 PFAM
Pfam:UDPGT 58 207 2e-90 PFAM
Pfam:Glyco_tran_28_C 137 207 4.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173325
SMART Domains Protein: ENSMUSP00000134443
Gene: ENSMUSG00000090165

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 61 3.4e-10 PFAM
Pfam:UDPGT 59 210 8.9e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140092
SMART Domains Protein: ENSMUSP00000115642
Gene: ENSMUSG00000054545

DomainStartEndE-ValueType
Pfam:UDPGT 1 166 9.3e-98 PFAM
Pfam:Glyco_tran_28_C 96 166 4.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113139
SMART Domains Protein: ENSMUSP00000108764
Gene: ENSMUSG00000089675

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 521 3.6e-237 PFAM
Pfam:Glyco_tran_28_C 360 449 1.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138182
SMART Domains Protein: ENSMUSP00000119985
Gene: ENSMUSG00000090165

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 62 7e-11 PFAM
Pfam:UDPGT 58 207 1.9e-90 PFAM
Pfam:Glyco_tran_28_C 137 207 4.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113142
SMART Domains Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 521 7.3e-231 PFAM
Pfam:Glyco_tran_28_C 360 449 1.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126203
SMART Domains Protein: ENSMUSP00000116653
Gene: ENSMUSG00000090124

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:UDPGT 26 62 4.6e-11 PFAM
Pfam:UDPGT 59 127 8.9e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113138
SMART Domains Protein: ENSMUSP00000108763
Gene: ENSMUSG00000090145

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UDPGT 27 522 7.3e-229 PFAM
Pfam:Glyco_tran_28_C 363 448 6.6e-9 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C A 5: 77,036,501 (GRCm39) E347* probably null Het
Abhd18 A G 3: 40,888,008 (GRCm39) N284S probably benign Het
Adam12 T C 7: 133,774,594 (GRCm39) D5G probably damaging Het
Adam26b A C 8: 43,974,234 (GRCm39) V256G probably benign Het
Aga T A 8: 53,970,856 (GRCm39) I192N probably benign Het
Ago1 A G 4: 126,354,837 (GRCm39) I125T probably benign Het
Alk A G 17: 72,218,560 (GRCm39) S762P probably damaging Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Cby3 T C 11: 50,250,501 (GRCm39) *236R probably null Het
Cfhr1 C A 1: 139,485,372 (GRCm39) probably null Het
Clcn1 T A 6: 42,276,849 (GRCm39) Y393N probably damaging Het
Cx3cr1 T C 9: 119,881,132 (GRCm39) H90R probably damaging Het
Cyp3a16 T A 5: 145,378,881 (GRCm39) K380M probably damaging Het
Cyp4v3 G A 8: 45,768,745 (GRCm39) R272* probably null Het
Dazap1 C T 10: 80,123,498 (GRCm39) R391C possibly damaging Het
Dgkh T A 14: 78,821,885 (GRCm39) E876V probably damaging Het
Dnah8 A T 17: 31,003,148 (GRCm39) K3616* probably null Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Fam221a A G 6: 49,349,630 (GRCm39) D2G probably damaging Het
Fam43a C T 16: 30,420,664 (GRCm39) T416I probably benign Het
Fam90a1a C A 8: 22,453,221 (GRCm39) S192* probably null Het
Foxd1 G C 13: 98,492,424 (GRCm39) A433P unknown Het
Garin4 T G 1: 190,896,207 (GRCm39) Q145H probably damaging Het
Gm10152 G A 7: 144,316,937 (GRCm39) probably null Het
Hipk3 T A 2: 104,271,628 (GRCm39) R435* probably null Het
Hnrnpab T A 11: 51,493,473 (GRCm39) Y245F probably benign Het
Islr2 A T 9: 58,106,925 (GRCm39) S112T probably benign Het
Itgb7 A T 15: 102,131,212 (GRCm39) V280D probably damaging Het
Kndc1 G A 7: 139,507,817 (GRCm39) probably null Het
Lrba T G 3: 86,283,260 (GRCm39) L1858R probably damaging Het
Mroh2b G A 15: 4,981,728 (GRCm39) W1513* probably null Het
Nbeal1 A G 1: 60,234,182 (GRCm39) D51G probably damaging Het
Ncoa6 G A 2: 155,253,561 (GRCm39) P939L probably benign Het
Ndst3 A G 3: 123,465,201 (GRCm39) I257T probably benign Het
Nolc1 CAG CAGAAG 19: 46,069,795 (GRCm39) probably benign Het
Nuf2 T A 1: 169,352,945 (GRCm39) N20I probably damaging Het
Osbpl7 T C 11: 96,946,879 (GRCm39) V223A probably damaging Het
Pcm1 T C 8: 41,785,041 (GRCm39) I2064T probably benign Het
Pkd1 A G 17: 24,810,435 (GRCm39) R90G possibly damaging Het
Pkdrej T A 15: 85,705,278 (GRCm39) K219N probably damaging Het
Ppil4 A T 10: 7,690,457 (GRCm39) Q370L probably benign Het
Pramel18 T A 4: 101,767,073 (GRCm39) D107E possibly damaging Het
Primpol A T 8: 47,052,848 (GRCm39) D154E probably benign Het
Rb1cc1 T G 1: 6,318,966 (GRCm39) V778G possibly damaging Het
Sgms1 A T 19: 32,136,994 (GRCm39) S191T possibly damaging Het
Sned1 T A 1: 93,189,473 (GRCm39) F303Y probably damaging Het
Sp9 T A 2: 73,104,652 (GRCm39) M402K probably damaging Het
Spon1 T C 7: 113,365,621 (GRCm39) L19P probably damaging Het
Spon1 T A 7: 113,616,024 (GRCm39) V297E possibly damaging Het
Tlr5 T C 1: 182,802,004 (GRCm39) I436T probably benign Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Tpcn2 T C 7: 144,809,260 (GRCm39) H682R probably damaging Het
Upf1 G T 8: 70,786,000 (GRCm39) N975K possibly damaging Het
Ush2a G A 1: 188,542,489 (GRCm39) G3352S probably benign Het
Vmn1r39 T C 6: 66,781,854 (GRCm39) N155D probably benign Het
Vwa5b2 A G 16: 20,417,076 (GRCm39) probably benign Het
Yipf4 G A 17: 74,803,667 (GRCm39) probably null Het
Zdhhc17 T C 10: 110,780,281 (GRCm39) I624M probably benign Het
Zfhx4 G A 3: 5,308,225 (GRCm39) E484K possibly damaging Het
Zswim4 G A 8: 84,938,676 (GRCm39) P1069S possibly damaging Het
Other mutations in Ugt1a6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:Ugt1a6a APN 1 88,066,772 (GRCm39) missense probably damaging 1.00
IGL02029:Ugt1a6a APN 1 88,066,403 (GRCm39) missense probably benign 0.28
IGL02059:Ugt1a6a APN 1 88,066,403 (GRCm39) missense possibly damaging 0.63
IGL02553:Ugt1a6a APN 1 88,066,811 (GRCm39) missense probably benign 0.01
R0164:Ugt1a6a UTSW 1 88,066,992 (GRCm39) missense possibly damaging 0.63
R0609:Ugt1a6a UTSW 1 88,066,606 (GRCm39) missense probably benign 0.00
R1055:Ugt1a6a UTSW 1 88,066,736 (GRCm39) missense probably benign
R1994:Ugt1a6a UTSW 1 88,066,470 (GRCm39) missense probably benign 0.01
R3822:Ugt1a6a UTSW 1 88,066,251 (GRCm39) missense probably benign 0.10
R4084:Ugt1a6a UTSW 1 88,066,899 (GRCm39) missense probably benign 0.37
R4153:Ugt1a6a UTSW 1 88,066,193 (GRCm39) critical splice acceptor site probably null
R4343:Ugt1a6a UTSW 1 88,066,248 (GRCm39) missense probably damaging 0.97
R4495:Ugt1a6a UTSW 1 88,066,905 (GRCm39) missense probably damaging 1.00
R4555:Ugt1a6a UTSW 1 88,066,349 (GRCm39) nonsense probably null
R4600:Ugt1a6a UTSW 1 88,066,586 (GRCm39) missense probably benign 0.00
R4631:Ugt1a6a UTSW 1 88,066,980 (GRCm39) missense probably benign 0.01
R4676:Ugt1a6a UTSW 1 88,067,007 (GRCm39) missense possibly damaging 0.48
R5495:Ugt1a6a UTSW 1 88,066,746 (GRCm39) missense probably benign 0.03
R5903:Ugt1a6a UTSW 1 88,142,845 (GRCm39) missense probably damaging 1.00
R5958:Ugt1a6a UTSW 1 88,143,510 (GRCm39) splice site probably benign
R8077:Ugt1a6a UTSW 1 88,066,575 (GRCm39) missense probably benign 0.31
R8711:Ugt1a6a UTSW 1 88,066,590 (GRCm39) missense possibly damaging 0.81
R8899:Ugt1a6a UTSW 1 88,066,803 (GRCm39) missense probably damaging 1.00
R9225:Ugt1a6a UTSW 1 88,066,560 (GRCm39) missense probably benign 0.01
R9401:Ugt1a6a UTSW 1 88,066,882 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GATCCTGGCTGAGTATCTCAAC -3'
(R):5'- ATCAGTCACCCACCTGAGTC -3'

Sequencing Primer
(F):5'- GCTGAGTATCTCAACCTGCC -3'
(R):5'- ACCCACCTGAGTCAGCTTTC -3'
Posted On 2015-04-17