Incidental Mutation 'R1667:Ugt1a7c'
ID 187252
Institutional Source Beutler Lab
Gene Symbol Ugt1a7c
Ensembl Gene ENSMUSG00000090124
Gene Name UDP glucuronosyltransferase 1 family, polypeptide A7C
Synonyms A10'
MMRRC Submission 039703-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R1667 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 88022784-88147724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88023657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 272 (Y272C)
Ref Sequence ENSEMBL: ENSMUSP00000058683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058237] [ENSMUST00000073772] [ENSMUST00000113139] [ENSMUST00000113142] [ENSMUST00000126203] [ENSMUST00000173325] [ENSMUST00000138182] [ENSMUST00000150634]
AlphaFold Q6ZQM8
Predicted Effect probably damaging
Transcript: ENSMUST00000058237
AA Change: Y272C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058683
Gene: ENSMUSG00000090124
AA Change: Y272C

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: 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: 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 noncoding transcript
Transcript: ENSMUST00000121495
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 noncoding transcript
Transcript: ENSMUST00000173165
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: 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: 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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 99% (76/77)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 G A 7: 139,425,564 (GRCm39) A26T possibly damaging Het
Adgrg3 T A 8: 95,760,001 (GRCm39) Y73* probably null Het
Alk A T 17: 72,218,562 (GRCm39) V761E probably damaging Het
Ankrd13a T C 5: 114,924,794 (GRCm39) V93A possibly damaging Het
Anks1b T C 10: 90,347,046 (GRCm39) probably null Het
Arb2a T A 13: 77,907,635 (GRCm39) M1K probably null Het
Ascl1 T C 10: 87,328,655 (GRCm39) N99S probably benign Het
Atm A T 9: 53,412,232 (GRCm39) L972Q probably damaging Het
Atp2c1 A T 9: 105,309,996 (GRCm39) L566Q probably null Het
Bank1 T A 3: 135,799,057 (GRCm39) Y629F probably damaging Het
Bod1l G T 5: 41,974,118 (GRCm39) L2399I probably benign Het
Bub1b G A 2: 118,471,670 (GRCm39) G1010D probably benign Het
Ces1b G A 8: 93,783,532 (GRCm39) H563Y possibly damaging Het
Cfap70 T C 14: 20,454,225 (GRCm39) E853G probably benign Het
Cfh T C 1: 140,033,261 (GRCm39) E779G probably benign Het
Cox7c A G 13: 86,194,003 (GRCm39) S7P probably benign Het
Cyp2c67 A G 19: 39,632,034 (GRCm39) probably null Het
Dhx30 G T 9: 109,914,513 (GRCm39) L995I possibly damaging Het
Dhx30 G C 9: 109,914,514 (GRCm39) N957K possibly damaging Het
Dsc3 T C 18: 20,124,617 (GRCm39) T36A possibly damaging Het
Dstyk A G 1: 132,384,657 (GRCm39) D717G probably damaging Het
Dusp10 A G 1: 183,769,055 (GRCm39) D7G probably damaging Het
E230001N04Rik T G 17: 28,742,935 (GRCm39) noncoding transcript Het
Ece2 T C 16: 20,456,588 (GRCm39) S330P possibly damaging Het
Frmd5 ATAGTGGAATTGTTCAAACTC ATAGTGGAATTGTTCAAACTCTAGTGGAATTGTTCAAACTC 2: 121,379,211 (GRCm39) probably null Het
Gata3 T C 2: 9,882,360 (GRCm39) H14R possibly damaging Het
Ggta1 T A 2: 35,304,295 (GRCm39) I75F possibly damaging Het
Hcn1 A T 13: 117,739,609 (GRCm39) I124F unknown Het
Herpud1 A C 8: 95,115,994 (GRCm39) D53A probably damaging Het
Inhba T A 13: 16,201,209 (GRCm39) L257Q possibly damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Jmy T A 13: 93,634,878 (GRCm39) S313C probably damaging Het
Lpo G A 11: 87,698,067 (GRCm39) probably benign Het
Lsg1 T C 16: 30,390,170 (GRCm39) E315G probably damaging Het
Lsm14a T A 7: 34,065,079 (GRCm39) T167S possibly damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map3k2 T C 18: 32,336,845 (GRCm39) probably benign Het
Mapk12 A T 15: 89,024,344 (GRCm39) M81K probably damaging Het
Matn2 T A 15: 34,378,878 (GRCm39) C305S probably damaging Het
Mgam T C 6: 40,653,978 (GRCm39) Y844H possibly damaging Het
Mgat5b A G 11: 116,838,203 (GRCm39) R281G probably benign Het
Mon1b T G 8: 114,368,589 (GRCm39) C497G probably damaging Het
Mybbp1a A T 11: 72,336,043 (GRCm39) H452L probably benign Het
Mybl2 A G 2: 162,917,616 (GRCm39) T41A probably damaging Het
Ncoa5 A G 2: 164,843,623 (GRCm39) V540A probably damaging Het
Nup93 T A 8: 95,019,315 (GRCm39) V47E possibly damaging Het
Or10a4 A T 7: 106,696,977 (GRCm39) M102L probably benign Het
Or5j3 A G 2: 86,129,080 (GRCm39) M307V probably null Het
Orc6 T A 8: 86,031,914 (GRCm39) C100S possibly damaging Het
Otogl G T 10: 107,649,826 (GRCm39) Y1176* probably null Het
Patj A T 4: 98,301,264 (GRCm39) D183V probably damaging Het
Pik3r3 A G 4: 116,079,514 (GRCm39) T4A probably damaging Het
Pla2g4d G A 2: 120,100,631 (GRCm39) probably benign Het
Pla2r1 A G 2: 60,250,601 (GRCm39) I1407T probably benign Het
Pramel13 A T 4: 144,119,606 (GRCm39) C320* probably null Het
Prex2 A T 1: 11,256,981 (GRCm39) H1231L probably benign Het
Prkca A G 11: 107,874,772 (GRCm39) V390A probably damaging Het
Psmd13 T A 7: 140,470,522 (GRCm39) W255R probably damaging Het
Rec8 T A 14: 55,856,253 (GRCm39) N37K probably damaging Het
Rnf207 C T 4: 152,397,672 (GRCm39) E361K probably benign Het
Serpina3f T A 12: 104,183,699 (GRCm39) L187Q probably damaging Het
Skint11 A T 4: 114,051,978 (GRCm39) T109S probably damaging Het
Slc7a8 A G 14: 54,962,306 (GRCm39) S443P probably damaging Het
Slc8b1 T A 5: 120,659,147 (GRCm39) F197Y probably benign Het
Sox2 T C 3: 34,704,568 (GRCm39) Y2H probably damaging Het
Speg T A 1: 75,387,193 (GRCm39) probably benign Het
Tlr3 T C 8: 45,853,874 (GRCm39) N149D probably benign Het
Trim60 A C 8: 65,454,116 (GRCm39) D44E probably benign Het
Vmn1r4 T A 6: 56,933,738 (GRCm39) Y81N probably damaging Het
Vmn2r73 A T 7: 85,506,889 (GRCm39) C808S probably benign Het
Ythdf3 T C 3: 16,259,056 (GRCm39) I412T possibly damaging Het
Zfp672 T C 11: 58,206,921 (GRCm39) T467A possibly damaging Het
Zfp985 A T 4: 147,668,407 (GRCm39) Q425L possibly damaging Het
Other mutations in Ugt1a7c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Ugt1a7c APN 1 88,022,967 (GRCm39) missense probably damaging 0.97
IGL01973:Ugt1a7c APN 1 88,022,856 (GRCm39) missense probably benign 0.00
IGL01990:Ugt1a7c APN 1 88,023,324 (GRCm39) missense probably damaging 1.00
IGL02589:Ugt1a7c APN 1 88,023,360 (GRCm39) missense probably benign 0.00
IGL02625:Ugt1a7c APN 1 88,023,239 (GRCm39) missense possibly damaging 0.94
IGL03381:Ugt1a7c APN 1 88,023,512 (GRCm39) missense probably benign 0.00
R1205:Ugt1a7c UTSW 1 88,023,678 (GRCm39) missense probably benign 0.00
R1706:Ugt1a7c UTSW 1 88,023,447 (GRCm39) missense probably damaging 0.99
R1928:Ugt1a7c UTSW 1 88,023,651 (GRCm39) missense probably benign 0.35
R3809:Ugt1a7c UTSW 1 88,023,104 (GRCm39) missense possibly damaging 0.95
R4194:Ugt1a7c UTSW 1 88,023,449 (GRCm39) missense possibly damaging 0.67
R4787:Ugt1a7c UTSW 1 88,023,392 (GRCm39) missense probably damaging 0.99
R5291:Ugt1a7c UTSW 1 88,023,231 (GRCm39) missense possibly damaging 0.48
R5473:Ugt1a7c UTSW 1 88,023,159 (GRCm39) missense probably benign 0.21
R5871:Ugt1a7c UTSW 1 88,023,381 (GRCm39) missense possibly damaging 0.50
R5934:Ugt1a7c UTSW 1 88,023,601 (GRCm39) missense probably damaging 0.99
R6591:Ugt1a7c UTSW 1 88,023,378 (GRCm39) missense possibly damaging 0.85
R6691:Ugt1a7c UTSW 1 88,023,378 (GRCm39) missense possibly damaging 0.85
R7033:Ugt1a7c UTSW 1 88,023,250 (GRCm39) missense possibly damaging 0.79
R8044:Ugt1a7c UTSW 1 88,023,278 (GRCm39) missense probably damaging 1.00
R8342:Ugt1a7c UTSW 1 88,022,973 (GRCm39) missense possibly damaging 0.83
R8357:Ugt1a7c UTSW 1 88,023,078 (GRCm39) missense probably benign 0.02
R8457:Ugt1a7c UTSW 1 88,023,078 (GRCm39) missense probably benign 0.02
R9363:Ugt1a7c UTSW 1 88,023,616 (GRCm39) missense probably damaging 1.00
R9617:Ugt1a7c UTSW 1 88,022,952 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGAACTCGGAACCTTTTGGCCTAC -3'
(R):5'- TCAGAGACTGAAGCAGCTCCACAG -3'

Sequencing Primer
(F):5'- AACCTTTTGGCCTACATGGGG -3'
(R):5'- gcacacgggataaaagcac -3'
Posted On 2014-05-09