Incidental Mutation 'R4528:Ugt1a6b'
ID 332974
Institutional Source Beutler Lab
Gene Symbol Ugt1a6b
Ensembl Gene ENSMUSG00000090145
Gene Name UDP glucuronosyltransferase 1 family, polypeptide A6B
Synonyms A9'
MMRRC Submission 041769-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R4528 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 88030979-88146720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88035301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 213 (I213N)
Ref Sequence ENSEMBL: ENSMUSP00000108763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058237] [ENSMUST00000073772] [ENSMUST00000113135] [ENSMUST00000113137] [ENSMUST00000113138] [ENSMUST00000113139] [ENSMUST00000150634] [ENSMUST00000138182] [ENSMUST00000126203] [ENSMUST00000173325] [ENSMUST00000113142]
AlphaFold K9J7B2
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 benign
Transcript: ENSMUST00000113135
SMART Domains Protein: ENSMUSP00000108760
Gene: ENSMUSG00000090124

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 damaging
Transcript: ENSMUST00000113137
AA Change: I213N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108762
Gene: ENSMUSG00000090145
AA Change: I213N

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 probably damaging
Transcript: ENSMUST00000113138
AA Change: I213N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108763
Gene: ENSMUSG00000090145
AA Change: I213N

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
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 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: 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: 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: 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: 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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atm A T 9: 53,412,059 (GRCm39) I999K probably benign Het
Camsap3 A G 8: 3,656,515 (GRCm39) E535G possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cenpu G T 8: 47,015,457 (GRCm39) G34* probably null Het
Col7a1 C A 9: 108,788,601 (GRCm39) A739D unknown Het
Coro1b T C 19: 4,199,980 (GRCm39) V107A probably benign Het
Cpeb3 T C 19: 37,116,488 (GRCm39) D381G possibly damaging Het
Cyp2a22 T C 7: 26,634,194 (GRCm39) D320G possibly damaging Het
Dcaf1 A T 9: 106,721,403 (GRCm39) K398N probably damaging Het
Etfa A G 9: 55,407,334 (GRCm39) S52P probably damaging Het
Fat4 T A 3: 38,945,443 (GRCm39) H1445Q probably benign Het
Foxred2 T A 15: 77,827,449 (GRCm39) M637L probably benign Het
Gbe1 A T 16: 70,275,225 (GRCm39) I342L probably benign Het
Gm14410 A T 2: 176,885,736 (GRCm39) I176K probably benign Het
Gm14410 G T 2: 176,885,734 (GRCm39) H177N probably damaging Het
Gm1527 T A 3: 28,968,542 (GRCm39) M198K probably damaging Het
Hr T C 14: 70,803,823 (GRCm39) L838P probably damaging Het
Kmt2e T C 5: 23,678,556 (GRCm39) S212P possibly damaging Het
Lims1 T C 10: 58,245,882 (GRCm39) C180R probably damaging Het
Mki67 A T 7: 135,297,088 (GRCm39) S2649T probably damaging Het
Or10x1 T A 1: 174,196,822 (GRCm39) L113H probably damaging Het
Or4f57 T C 2: 111,791,293 (GRCm39) N42D probably damaging Het
Or51t4 A G 7: 102,598,013 (GRCm39) M104V probably damaging Het
Pde4dip C T 3: 97,624,338 (GRCm39) E1399K probably damaging Het
Pex1 T C 5: 3,681,712 (GRCm39) Y1053H probably damaging Het
Plscr2 G A 9: 92,171,746 (GRCm39) E113K possibly damaging Het
Pus1 T C 5: 110,922,596 (GRCm39) Y309C probably damaging Het
Scube3 T A 17: 28,381,973 (GRCm39) V333D possibly damaging Het
Serpina11 A T 12: 103,952,592 (GRCm39) N66K probably benign Het
Thtpa T A 14: 55,333,039 (GRCm39) D41E probably damaging Het
Timm10b A G 7: 105,332,013 (GRCm39) N828S probably benign Het
Tlr12 A C 4: 128,511,818 (GRCm39) L144R probably damaging Het
Uba7 A G 9: 107,861,102 (GRCm39) E964G possibly damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Zbtb43 A G 2: 33,352,337 (GRCm39) probably benign Het
Zfp985 A T 4: 147,667,347 (GRCm39) I72F possibly damaging Het
Zfpm1 G A 8: 123,062,381 (GRCm39) R480H probably benign Het
Other mutations in Ugt1a6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Ugt1a6b APN 1 88,035,327 (GRCm39) missense possibly damaging 0.93
IGL00990:Ugt1a6b APN 1 88,142,900 (GRCm39) splice site probably null
IGL02139:Ugt1a6b APN 1 88,035,527 (GRCm39) intron probably benign
PIT4131001:Ugt1a6b UTSW 1 88,146,112 (GRCm39) missense probably damaging 1.00
PIT4131001:Ugt1a6b UTSW 1 88,143,976 (GRCm39) missense probably damaging 1.00
PIT4131001:Ugt1a6b UTSW 1 88,143,880 (GRCm39) small deletion probably benign
R0164:Ugt1a6b UTSW 1 88,035,189 (GRCm39) missense probably damaging 0.99
R0966:Ugt1a6b UTSW 1 88,034,850 (GRCm39) missense probably benign 0.04
R1368:Ugt1a6b UTSW 1 88,035,358 (GRCm39) missense probably benign 0.08
R1542:Ugt1a6b UTSW 1 88,034,983 (GRCm39) missense probably benign 0.04
R3693:Ugt1a6b UTSW 1 88,035,516 (GRCm39) missense probably benign
R5206:Ugt1a6b UTSW 1 88,035,170 (GRCm39) nonsense probably null
R5272:Ugt1a6b UTSW 1 88,034,949 (GRCm39) missense possibly damaging 0.73
R5977:Ugt1a6b UTSW 1 88,143,982 (GRCm39) missense probably damaging 1.00
R6640:Ugt1a6b UTSW 1 88,035,516 (GRCm39) missense probably benign
R6723:Ugt1a6b UTSW 1 88,035,439 (GRCm39) missense probably benign 0.15
R8795:Ugt1a6b UTSW 1 88,034,794 (GRCm39) missense probably benign 0.00
R9557:Ugt1a6b UTSW 1 88,034,820 (GRCm39) nonsense probably null
Z31818:Ugt1a6b UTSW 1 88,034,877 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGGAGAACAAGTTTGATGCTC -3'
(R):5'- CCCTCCAATGAAGATCATGTTGG -3'

Sequencing Primer
(F):5'- CAAGTTTGATGCTCTGTTCACAG -3'
(R):5'- GGCATGATTGGCCTGGGATATTC -3'
Posted On 2015-08-18