Incidental Mutation 'R6967:Ugt1a10'
ID 542031
Institutional Source Beutler Lab
Gene Symbol Ugt1a10
Ensembl Gene ENSMUSG00000090165
Gene Name UDP glycosyltransferase 1 family, polypeptide A10
Synonyms A13
MMRRC Submission 045077-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R6967 (G1)
Quality Score 131.008
Status Validated
Chromosome 1
Chromosomal Location 87983110-88146726 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88142845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 113 (P113L)
Ref Sequence ENSEMBL: ENSMUSP00000134443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014263] [ENSMUST00000049289] [ENSMUST00000058237] [ENSMUST00000073049] [ENSMUST00000073772] [ENSMUST00000097659] [ENSMUST00000113134] [ENSMUST00000138182] [ENSMUST00000113142] [ENSMUST00000113137] [ENSMUST00000113135] [ENSMUST00000140092] [ENSMUST00000126203] [ENSMUST00000113138] [ENSMUST00000173325] [ENSMUST00000113139] [ENSMUST00000150634]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000014263
AA Change: P313L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014263
Gene: ENSMUSG00000054545
AA Change: P313L

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: ENSMUST00000049289
AA Change: P315L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037258
Gene: ENSMUSG00000090171
AA Change: P315L

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:UDPGT 28 524 2.2e-247 PFAM
Pfam:Glyco_tran_28_C 363 452 4.5e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000058237
AA Change: P313L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058683
Gene: ENSMUSG00000090124
AA Change: P313L

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 damaging
Transcript: ENSMUST00000073049
AA Change: P317L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072803
Gene: ENSMUSG00000089960
AA Change: P317L

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:UDPGT 30 526 5.8e-241 PFAM
Pfam:Glyco_tran_28_C 365 454 4.5e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000073772
AA Change: P310L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073444
Gene: ENSMUSG00000090175
AA Change: P310L

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: ENSMUST00000097659
AA Change: P311L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095263
Gene: ENSMUSG00000089943
AA Change: P311L

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:UDPGT 25 520 6.7e-246 PFAM
Pfam:Glyco_tran_28_C 359 448 1.3e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113134
AA Change: P313L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108759
Gene: ENSMUSG00000054545
AA Change: P313L

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: ENSMUST00000138182
AA Change: P88L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119985
Gene: ENSMUSG00000090165
AA Change: P88L

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 damaging
Transcript: ENSMUST00000113142
AA Change: P312L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165
AA Change: P312L

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 damaging
Transcript: ENSMUST00000113137
AA Change: P313L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108762
Gene: ENSMUSG00000090145
AA Change: P313L

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: ENSMUST00000113135
AA Change: P313L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108760
Gene: ENSMUSG00000090124
AA Change: P313L

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: ENSMUST00000140092
AA Change: P47L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115642
Gene: ENSMUSG00000054545
AA Change: P47L

DomainStartEndE-ValueType
Pfam:UDPGT 1 166 9.3e-98 PFAM
Pfam:Glyco_tran_28_C 96 166 4.9e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000126203
AA Change: P88L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116653
Gene: ENSMUSG00000090124
AA Change: P88L

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 damaging
Transcript: ENSMUST00000113138
AA Change: P313L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108763
Gene: ENSMUSG00000090145
AA Change: P313L

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 damaging
Transcript: ENSMUST00000173325
AA Change: P113L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134443
Gene: ENSMUSG00000090165
AA Change: P113L

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 damaging
Transcript: ENSMUST00000113139
AA Change: P312L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108764
Gene: ENSMUSG00000089675
AA Change: P312L

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 damaging
Transcript: ENSMUST00000150634
AA Change: P88L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123452
Gene: ENSMUSG00000090124
AA Change: P88L

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 noncoding transcript
Transcript: ENSMUST00000173165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174821
Meta Mutation Damage Score 0.7635 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 97% (56/58)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930516K23Rik A G 7: 103,708,212 (GRCm39) I199T probably benign Het
Adam23 T G 1: 63,602,495 (GRCm39) probably null Het
Adamts8 C T 9: 30,865,787 (GRCm39) T445I probably benign Het
Ahi1 T C 10: 20,864,524 (GRCm39) V752A probably damaging Het
Arfgef1 T C 1: 10,223,903 (GRCm39) Q1465R probably damaging Het
Arfgef1 G T 1: 10,223,904 (GRCm39) Q1465K probably damaging Het
Bicra T C 7: 15,706,130 (GRCm39) E1437G probably damaging Het
Cdc42ep4 C T 11: 113,619,998 (GRCm39) S131N possibly damaging Het
Ces1f G A 8: 93,994,625 (GRCm39) P262L probably benign Het
Chrna2 A T 14: 66,388,398 (GRCm39) probably null Het
Cspg4 G A 9: 56,797,420 (GRCm39) V1295M possibly damaging Het
D5Ertd579e T C 5: 36,773,100 (GRCm39) T432A probably benign Het
Dach1 A T 14: 98,140,633 (GRCm39) S456R probably damaging Het
Dhx37 T C 5: 125,499,231 (GRCm39) D659G probably benign Het
Dscaml1 T C 9: 45,585,821 (GRCm39) V586A probably damaging Het
Efhb G T 17: 53,770,196 (GRCm39) L38I probably benign Het
Fbxw10 T C 11: 62,738,429 (GRCm39) S108P possibly damaging Het
Fmnl2 A G 2: 52,987,344 (GRCm39) N313S possibly damaging Het
Gga3 T C 11: 115,482,102 (GRCm39) E172G probably damaging Het
Ggta1 A G 2: 35,292,734 (GRCm39) V191A possibly damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
Hcn4 C T 9: 58,731,228 (GRCm39) T145M unknown Het
Kirrel3 T C 9: 34,946,202 (GRCm39) S654P probably damaging Het
Klrb1 A T 6: 128,687,486 (GRCm39) probably null Het
Krt15 T A 11: 100,025,339 (GRCm39) D166V probably damaging Het
Lipk T A 19: 34,017,794 (GRCm39) Y277* probably null Het
Ly6g A C 15: 75,030,398 (GRCm39) N49T possibly damaging Het
Ms4a4c A T 19: 11,392,191 (GRCm39) Q4L probably benign Het
Nfya A C 17: 48,699,932 (GRCm39) probably benign Het
Nub1 T C 5: 24,913,709 (GRCm39) V530A probably benign Het
Ocln A T 13: 100,675,796 (GRCm39) Y232* probably null Het
Or10ag59 A G 2: 87,405,857 (GRCm39) N143S possibly damaging Het
Or2r2 A G 6: 42,463,947 (GRCm39) F60S probably damaging Het
Or4d2b C T 11: 87,780,324 (GRCm39) V133I probably benign Het
Or5b114-ps1 A G 19: 13,352,815 (GRCm39) H163R unknown Het
Otogl G A 10: 107,649,911 (GRCm39) A1148V probably benign Het
Paqr5 C T 9: 61,880,113 (GRCm39) W46* probably null Het
Psd2 C A 18: 36,113,385 (GRCm39) L286M probably damaging Het
Ptpn4 A T 1: 119,612,311 (GRCm39) Y27* probably null Het
Ripk2 A G 4: 16,158,275 (GRCm39) probably null Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Sbk2 C T 7: 4,967,146 (GRCm39) probably null Het
Sec16a G A 2: 26,320,498 (GRCm39) R1361C probably damaging Het
Sspo A C 6: 48,466,728 (GRCm39) D4072A probably benign Het
St6galnac3 T C 3: 152,912,345 (GRCm39) Y214C probably damaging Het
Sugp1 T A 8: 70,513,202 (GRCm39) D256E possibly damaging Het
Sugt1 A G 14: 79,834,847 (GRCm39) Y90C probably benign Het
Taok2 A G 7: 126,469,564 (GRCm39) I1088T probably damaging Het
Tasor2 A T 13: 3,624,819 (GRCm39) D1710E probably benign Het
Tmc7 T A 7: 118,146,901 (GRCm39) T459S probably benign Het
Tmed11 T C 5: 108,926,780 (GRCm39) Y164C probably damaging Het
Tmem275 A G 4: 115,755,491 (GRCm39) T97A unknown Het
Tmem63b T C 17: 45,977,558 (GRCm39) E356G probably benign Het
Ttc13 T C 8: 125,415,357 (GRCm39) I261V probably benign Het
Vmn1r73 A T 7: 11,490,544 (GRCm39) K121* probably null Het
Zc3h12d A T 10: 7,715,644 (GRCm39) S16C probably damaging Het
Zfp292 A T 4: 34,807,812 (GRCm39) M1744K probably damaging Het
Other mutations in Ugt1a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01126:Ugt1a10 APN 1 87,983,709 (GRCm39) missense possibly damaging 0.72
IGL02219:Ugt1a10 APN 1 87,983,780 (GRCm39) missense probably benign 0.00
IGL02511:Ugt1a10 APN 1 87,983,585 (GRCm39) missense probably damaging 1.00
IGL02990:Ugt1a10 APN 1 87,983,601 (GRCm39) missense probably damaging 1.00
PIT4142001:Ugt1a10 UTSW 1 88,143,880 (GRCm39) small deletion probably benign
R0201:Ugt1a10 UTSW 1 88,145,971 (GRCm39) missense probably damaging 1.00
R0201:Ugt1a10 UTSW 1 88,142,845 (GRCm39) missense probably damaging 1.00
R0522:Ugt1a10 UTSW 1 88,145,971 (GRCm39) missense probably damaging 1.00
R0525:Ugt1a10 UTSW 1 88,145,971 (GRCm39) missense probably damaging 1.00
R0554:Ugt1a10 UTSW 1 87,983,817 (GRCm39) missense probably damaging 1.00
R0748:Ugt1a10 UTSW 1 88,142,845 (GRCm39) missense probably damaging 1.00
R0811:Ugt1a10 UTSW 1 87,983,904 (GRCm39) missense probably benign 0.33
R0812:Ugt1a10 UTSW 1 87,983,904 (GRCm39) missense probably benign 0.33
R1129:Ugt1a10 UTSW 1 87,983,331 (GRCm39) missense probably benign
R1207:Ugt1a10 UTSW 1 88,143,976 (GRCm39) missense probably damaging 1.00
R1432:Ugt1a10 UTSW 1 88,143,982 (GRCm39) missense probably damaging 1.00
R1457:Ugt1a10 UTSW 1 87,983,433 (GRCm39) missense probably damaging 1.00
R1469:Ugt1a10 UTSW 1 88,143,976 (GRCm39) missense probably damaging 1.00
R1972:Ugt1a10 UTSW 1 87,983,769 (GRCm39) missense probably damaging 1.00
R1973:Ugt1a10 UTSW 1 87,983,769 (GRCm39) missense probably damaging 1.00
R2039:Ugt1a10 UTSW 1 87,983,703 (GRCm39) missense probably benign 0.32
R2307:Ugt1a10 UTSW 1 87,983,669 (GRCm39) missense probably benign 0.01
R3952:Ugt1a10 UTSW 1 88,143,862 (GRCm39) missense probably damaging 1.00
R3973:Ugt1a10 UTSW 1 88,143,862 (GRCm39) missense probably damaging 1.00
R4232:Ugt1a10 UTSW 1 87,983,932 (GRCm39) missense probably benign 0.39
R4392:Ugt1a10 UTSW 1 88,142,845 (GRCm39) missense probably damaging 1.00
R4393:Ugt1a10 UTSW 1 88,142,845 (GRCm39) missense probably damaging 1.00
R4402:Ugt1a10 UTSW 1 88,142,845 (GRCm39) missense probably damaging 1.00
R4417:Ugt1a10 UTSW 1 87,983,717 (GRCm39) missense probably benign
R4474:Ugt1a10 UTSW 1 88,143,650 (GRCm39) intron probably benign
R4476:Ugt1a10 UTSW 1 88,143,650 (GRCm39) intron probably benign
R4515:Ugt1a10 UTSW 1 87,983,919 (GRCm39) missense probably damaging 1.00
R4579:Ugt1a10 UTSW 1 87,983,838 (GRCm39) missense probably benign
R4582:Ugt1a10 UTSW 1 87,983,463 (GRCm39) missense possibly damaging 0.90
R4609:Ugt1a10 UTSW 1 87,983,204 (GRCm39) start codon destroyed possibly damaging 0.92
R4627:Ugt1a10 UTSW 1 88,146,112 (GRCm39) missense probably damaging 1.00
R4790:Ugt1a10 UTSW 1 87,984,009 (GRCm39) missense probably damaging 0.98
R4799:Ugt1a10 UTSW 1 88,143,650 (GRCm39) intron probably benign
R4910:Ugt1a10 UTSW 1 88,142,845 (GRCm39) missense probably damaging 1.00
R4915:Ugt1a10 UTSW 1 87,983,646 (GRCm39) missense probably damaging 1.00
R5110:Ugt1a10 UTSW 1 87,983,974 (GRCm39) splice site probably null
R5168:Ugt1a10 UTSW 1 87,983,531 (GRCm39) missense probably benign 0.01
R5329:Ugt1a10 UTSW 1 88,143,976 (GRCm39) missense probably damaging 1.00
R5373:Ugt1a10 UTSW 1 87,983,632 (GRCm39) missense probably damaging 0.98
R5374:Ugt1a10 UTSW 1 87,983,632 (GRCm39) missense probably damaging 0.98
R5615:Ugt1a10 UTSW 1 88,143,880 (GRCm39) small deletion probably benign
R6498:Ugt1a10 UTSW 1 88,143,862 (GRCm39) missense probably damaging 1.00
R6727:Ugt1a10 UTSW 1 87,983,979 (GRCm39) splice site probably null
R6809:Ugt1a10 UTSW 1 87,983,647 (GRCm39) missense probably damaging 0.98
R6924:Ugt1a10 UTSW 1 87,983,379 (GRCm39) missense probably damaging 0.99
R7913:Ugt1a10 UTSW 1 87,983,477 (GRCm39) missense probably benign 0.00
R9165:Ugt1a10 UTSW 1 87,983,509 (GRCm39) missense probably benign 0.00
R9264:Ugt1a10 UTSW 1 87,983,393 (GRCm39) missense possibly damaging 0.62
R9475:Ugt1a10 UTSW 1 88,143,982 (GRCm39) missense probably damaging 1.00
S24628:Ugt1a10 UTSW 1 88,143,880 (GRCm39) small deletion probably benign
X0013:Ugt1a10 UTSW 1 88,143,976 (GRCm39) missense probably damaging 1.00
Z1088:Ugt1a10 UTSW 1 87,983,564 (GRCm39) missense probably benign 0.20
Z1190:Ugt1a10 UTSW 1 88,143,880 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- TTCACTGACTTCCATAAGAGGG -3'
(R):5'- TGAAATAGACCATAGTGTAGGAGTACC -3'

Sequencing Primer
(F):5'- GGGAAGTAACTTGTAATCTAATGTGC -3'
(R):5'- ACTCTGGAACCAGAGTTC -3'
Posted On 2018-11-28