Incidental Mutation 'R9475:Ugt1a10'
ID 715679
Institutional Source Beutler Lab
Gene Symbol Ugt1a10
Ensembl Gene ENSMUSG00000090165
Gene Name UDP glycosyltransferase 1 family, polypeptide A10
Synonyms A13
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R9475 (G1)
Quality Score 95.0077
Status Not validated
Chromosome 1
Chromosomal Location 88055388-88219004 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88216260 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 201 (R201C)
Ref Sequence ENSEMBL: ENSMUSP00000134443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014263] [ENSMUST00000049289] [ENSMUST00000058237] [ENSMUST00000073049] [ENSMUST00000073772] [ENSMUST00000097659] [ENSMUST00000113134] [ENSMUST00000113135] [ENSMUST00000113137] [ENSMUST00000113138] [ENSMUST00000113139] [ENSMUST00000113142] [ENSMUST00000138182] [ENSMUST00000140092] [ENSMUST00000150634] [ENSMUST00000173325] [ENSMUST00000126203]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000014263
AA Change: R401C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014263
Gene: ENSMUSG00000054545
AA Change: R401C

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: R403C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037258
Gene: ENSMUSG00000090171
AA Change: R403C

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: R401C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058683
Gene: ENSMUSG00000090124
AA Change: R401C

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: R405C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072803
Gene: ENSMUSG00000089960
AA Change: R405C

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: R398C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073444
Gene: ENSMUSG00000090175
AA Change: R398C

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: R399C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095263
Gene: ENSMUSG00000089943
AA Change: R399C

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: R401C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108759
Gene: ENSMUSG00000054545
AA Change: R401C

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
SMART Domains Protein: ENSMUSP00000108760
Gene: ENSMUSG00000090124
AA Change: R401C

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: R401C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108762
Gene: ENSMUSG00000090145
AA Change: R401C

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: R401C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108763
Gene: ENSMUSG00000090145
AA Change: R401C

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: ENSMUST00000113139
AA Change: R400C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108764
Gene: ENSMUSG00000089675
AA Change: R400C

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: ENSMUST00000113142
AA Change: R400C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165
AA Change: R400C

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: ENSMUST00000138182
AA Change: R176C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119985
Gene: ENSMUSG00000090165
AA Change: R176C

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: ENSMUST00000140092
AA Change: R135C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115642
Gene: ENSMUSG00000054545
AA Change: R135C

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: ENSMUST00000150634
AA Change: R176C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123452
Gene: ENSMUSG00000090124
AA Change: R176C

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 damaging
Transcript: ENSMUST00000173325
AA Change: R201C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134443
Gene: ENSMUSG00000090165
AA Change: R201C

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 noncoding transcript
Transcript: ENSMUST00000173165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174821
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124852
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
Meta Mutation Damage Score 0.8935 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A T 7: 46,016,468 (GRCm38) W243R probably damaging Het
Ablim1 T G 19: 57,239,180 (GRCm38) K18Q probably benign Het
Adamts18 T A 8: 113,777,938 (GRCm38) N174Y possibly damaging Het
Agbl2 A G 2: 90,784,093 (GRCm38) H23R probably benign Het
Akap6 T G 12: 53,010,552 (GRCm38) Y934D probably damaging Het
Alas1 C T 9: 106,234,062 (GRCm38) S635N probably benign Het
Ankrd24 A G 10: 81,642,299 (GRCm38) probably null Het
Atp6v0a4 A G 6: 38,060,982 (GRCm38) L560P probably damaging Het
Cacng1 C T 11: 107,716,292 (GRCm38) V34M possibly damaging Het
Clcn3 C T 8: 60,934,517 (GRCm38) A233T probably damaging Het
Cntnap3 A G 13: 64,799,135 (GRCm38) F160S probably damaging Het
Ctnnd2 A G 15: 30,881,130 (GRCm38) S719G probably damaging Het
Exosc2 G A 2: 31,674,743 (GRCm38) V107I probably benign Het
Fam83b C A 9: 76,491,803 (GRCm38) V673F probably benign Het
Fras1 T C 5: 96,780,070 (GRCm38) F3781L probably damaging Het
Gal3st1 T A 11: 3,998,660 (GRCm38) L289H probably damaging Het
Garem1 T C 18: 21,148,313 (GRCm38) I329V probably benign Het
Gli3 G A 13: 15,725,711 (GRCm38) G1228S possibly damaging Het
Gpbp1l1 T C 4: 116,574,361 (GRCm38) F72S possibly damaging Het
Hao1 T A 2: 134,548,261 (GRCm38) M53L probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,266,277 (GRCm38) probably benign Het
Iqcm A G 8: 75,753,455 (GRCm38) E347G probably damaging Het
Itpr3 G A 17: 27,118,677 (GRCm38) probably benign Het
Kcnrg A G 14: 61,607,657 (GRCm38) I49V possibly damaging Het
Lrrc8e G A 8: 4,235,346 (GRCm38) G524S probably benign Het
Lrrn1 A T 6: 107,568,300 (GRCm38) Y353F probably damaging Het
Mdn1 A G 4: 32,739,849 (GRCm38) D3701G possibly damaging Het
Mtmr2 A G 9: 13,805,471 (GRCm38) T623A probably benign Het
Ndst4 C A 3: 125,714,647 (GRCm38) S287* probably null Het
Ntrk3 A C 7: 78,302,732 (GRCm38) M579R probably benign Het
Oas1a G A 5: 120,899,254 (GRCm38) L237F probably damaging Het
Olfr1350 A T 7: 6,570,819 (GRCm38) Y276F probably damaging Het
Olfr169 T C 16: 19,566,520 (GRCm38) D121G probably benign Het
Olfr857 T C 9: 19,713,643 (GRCm38) M272T probably benign Het
Paqr5 T A 9: 61,956,225 (GRCm38) I272F probably damaging Het
Pcdha11 T A 18: 37,007,538 (GRCm38) V740E probably damaging Het
Pdgfra A C 5: 75,167,927 (GRCm38) N240T possibly damaging Het
Plbd2 G A 5: 120,494,380 (GRCm38) Q186* probably null Het
Plce1 G A 19: 38,777,893 (GRCm38) E2121K possibly damaging Het
Ppargc1a C A 5: 51,495,738 (GRCm38) G161C probably damaging Het
Ptprk T C 10: 28,334,480 (GRCm38) I166T possibly damaging Het
Rhox8 GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT X: 37,878,114 (GRCm38) probably benign Het
Rpap2 T A 5: 107,620,589 (GRCm38) L431Q probably damaging Het
Rslcan18 T A 13: 67,102,064 (GRCm38) K160* probably null Het
Sema7a T C 9: 57,954,905 (GRCm38) F180L probably benign Het
Sh2d3c C T 2: 32,753,027 (GRCm38) L741F probably damaging Het
Shank1 G A 7: 44,312,918 (GRCm38) S71N unknown Het
Skint6 C T 4: 112,806,840 (GRCm38) probably null Het
Skiv2l A T 17: 34,841,102 (GRCm38) D897E probably benign Het
Slc35f3 T C 8: 126,382,254 (GRCm38) S181P probably damaging Het
Slc4a9 A T 18: 36,529,216 (GRCm38) E127V probably null Het
Spata5 T C 3: 37,431,909 (GRCm38) V260A probably benign Het
Speg C T 1: 75,388,091 (GRCm38) T372I probably damaging Het
Syce1l A G 8: 113,655,103 (GRCm38) T204A probably benign Het
Tas2r138 T A 6: 40,612,458 (GRCm38) M285L probably benign Het
Tbc1d10a G C 11: 4,213,604 (GRCm38) K285N probably damaging Het
Trim9 T A 12: 70,346,454 (GRCm38) M239L probably benign Het
Trp53bp1 A G 2: 121,209,280 (GRCm38) S1293P probably benign Het
Uaca C T 9: 60,872,216 (GRCm38) T1295M possibly damaging Het
Ubald1 G T 16: 4,875,569 (GRCm38) Q161K possibly damaging Het
Vps45 T G 3: 96,042,925 (GRCm38) T231P probably damaging Het
Wdr17 A T 8: 54,635,477 (GRCm38) D1186E probably benign Het
Zfp534 G A 4: 147,682,274 (GRCm38) T8I probably benign Het
Zfp68 T C 5: 138,607,255 (GRCm38) N269D probably benign Het
Other mutations in Ugt1a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01126:Ugt1a10 APN 1 88,055,987 (GRCm38) missense possibly damaging 0.72
IGL02219:Ugt1a10 APN 1 88,056,058 (GRCm38) missense probably benign 0.00
IGL02511:Ugt1a10 APN 1 88,055,863 (GRCm38) missense probably damaging 1.00
IGL02990:Ugt1a10 APN 1 88,055,879 (GRCm38) missense probably damaging 1.00
PIT4142001:Ugt1a10 UTSW 1 88,216,158 (GRCm38) small deletion probably benign
R0201:Ugt1a10 UTSW 1 88,218,249 (GRCm38) missense probably damaging 1.00
R0201:Ugt1a10 UTSW 1 88,215,123 (GRCm38) missense probably damaging 1.00
R0522:Ugt1a10 UTSW 1 88,218,249 (GRCm38) missense probably damaging 1.00
R0525:Ugt1a10 UTSW 1 88,218,249 (GRCm38) missense probably damaging 1.00
R0554:Ugt1a10 UTSW 1 88,056,095 (GRCm38) missense probably damaging 1.00
R0748:Ugt1a10 UTSW 1 88,215,123 (GRCm38) missense probably damaging 1.00
R0811:Ugt1a10 UTSW 1 88,056,182 (GRCm38) missense probably benign 0.33
R0812:Ugt1a10 UTSW 1 88,056,182 (GRCm38) missense probably benign 0.33
R1129:Ugt1a10 UTSW 1 88,055,609 (GRCm38) missense probably benign
R1207:Ugt1a10 UTSW 1 88,216,254 (GRCm38) missense probably damaging 1.00
R1432:Ugt1a10 UTSW 1 88,216,260 (GRCm38) missense probably damaging 1.00
R1457:Ugt1a10 UTSW 1 88,055,711 (GRCm38) missense probably damaging 1.00
R1469:Ugt1a10 UTSW 1 88,216,254 (GRCm38) missense probably damaging 1.00
R1972:Ugt1a10 UTSW 1 88,056,047 (GRCm38) missense probably damaging 1.00
R1973:Ugt1a10 UTSW 1 88,056,047 (GRCm38) missense probably damaging 1.00
R2039:Ugt1a10 UTSW 1 88,055,981 (GRCm38) missense probably benign 0.32
R2307:Ugt1a10 UTSW 1 88,055,947 (GRCm38) missense probably benign 0.01
R3952:Ugt1a10 UTSW 1 88,216,140 (GRCm38) missense probably damaging 1.00
R3973:Ugt1a10 UTSW 1 88,216,140 (GRCm38) missense probably damaging 1.00
R4232:Ugt1a10 UTSW 1 88,056,210 (GRCm38) missense probably benign 0.39
R4392:Ugt1a10 UTSW 1 88,215,123 (GRCm38) missense probably damaging 1.00
R4393:Ugt1a10 UTSW 1 88,215,123 (GRCm38) missense probably damaging 1.00
R4402:Ugt1a10 UTSW 1 88,215,123 (GRCm38) missense probably damaging 1.00
R4417:Ugt1a10 UTSW 1 88,055,995 (GRCm38) missense probably benign
R4474:Ugt1a10 UTSW 1 88,215,928 (GRCm38) intron probably benign
R4476:Ugt1a10 UTSW 1 88,215,928 (GRCm38) intron probably benign
R4515:Ugt1a10 UTSW 1 88,056,197 (GRCm38) missense probably damaging 1.00
R4579:Ugt1a10 UTSW 1 88,056,116 (GRCm38) missense probably benign
R4582:Ugt1a10 UTSW 1 88,055,741 (GRCm38) missense possibly damaging 0.90
R4609:Ugt1a10 UTSW 1 88,055,482 (GRCm38) start codon destroyed possibly damaging 0.92
R4627:Ugt1a10 UTSW 1 88,218,390 (GRCm38) missense probably damaging 1.00
R4790:Ugt1a10 UTSW 1 88,056,287 (GRCm38) missense probably damaging 0.98
R4799:Ugt1a10 UTSW 1 88,215,928 (GRCm38) intron probably benign
R4910:Ugt1a10 UTSW 1 88,215,123 (GRCm38) missense probably damaging 1.00
R4915:Ugt1a10 UTSW 1 88,055,924 (GRCm38) missense probably damaging 1.00
R5110:Ugt1a10 UTSW 1 88,056,252 (GRCm38) splice site probably null
R5168:Ugt1a10 UTSW 1 88,055,809 (GRCm38) missense probably benign 0.01
R5329:Ugt1a10 UTSW 1 88,216,254 (GRCm38) missense probably damaging 1.00
R5373:Ugt1a10 UTSW 1 88,055,910 (GRCm38) missense probably damaging 0.98
R5374:Ugt1a10 UTSW 1 88,055,910 (GRCm38) missense probably damaging 0.98
R5615:Ugt1a10 UTSW 1 88,216,158 (GRCm38) small deletion probably benign
R6498:Ugt1a10 UTSW 1 88,216,140 (GRCm38) missense probably damaging 1.00
R6727:Ugt1a10 UTSW 1 88,056,257 (GRCm38) splice site probably null
R6809:Ugt1a10 UTSW 1 88,055,925 (GRCm38) missense probably damaging 0.98
R6924:Ugt1a10 UTSW 1 88,055,657 (GRCm38) missense probably damaging 0.99
R6967:Ugt1a10 UTSW 1 88,215,123 (GRCm38) missense probably damaging 1.00
R7913:Ugt1a10 UTSW 1 88,055,755 (GRCm38) missense probably benign 0.00
R9165:Ugt1a10 UTSW 1 88,055,787 (GRCm38) missense probably benign 0.00
R9264:Ugt1a10 UTSW 1 88,055,671 (GRCm38) missense possibly damaging 0.62
S24628:Ugt1a10 UTSW 1 88,216,158 (GRCm38) small deletion probably benign
X0013:Ugt1a10 UTSW 1 88,216,254 (GRCm38) missense probably damaging 1.00
Z1088:Ugt1a10 UTSW 1 88,055,842 (GRCm38) missense probably benign 0.20
Z1190:Ugt1a10 UTSW 1 88,216,158 (GRCm38) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- CCACCCCAATTTTCTACAATGG -3'
(R):5'- TGCTGTAGGTATGAATACAAGTAGG -3'

Sequencing Primer
(F):5'- GGGGTATTCTCAGAATCCAGACTC -3'
(R):5'- CCTACCTCTTGTTGTTGATG -3'
Posted On 2022-06-15