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: 0.130) question?
Stock # R9475 (G1)
Quality Score 95.0077
Status Not validated
Chromosome 1
Chromosomal Location 87983110-88146726 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88143982 bp (GRCm39)
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] [ENSMUST00000113138] [ENSMUST00000113135] [ENSMUST00000113137] [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 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
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: 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: 45,665,892 (GRCm39) W243R probably damaging Het
Ablim1 T G 19: 57,227,612 (GRCm39) K18Q probably benign Het
Adamts18 T A 8: 114,504,570 (GRCm39) N174Y possibly damaging Het
Afg2a T C 3: 37,486,058 (GRCm39) V260A probably benign Het
Agbl2 A G 2: 90,614,437 (GRCm39) H23R probably benign Het
Akap6 T G 12: 53,057,335 (GRCm39) Y934D probably damaging Het
Alas1 C T 9: 106,111,261 (GRCm39) S635N probably benign Het
Ankrd24 A G 10: 81,478,133 (GRCm39) probably null Het
Atp6v0a4 A G 6: 38,037,917 (GRCm39) L560P probably damaging Het
Cacng1 C T 11: 107,607,118 (GRCm39) V34M possibly damaging Het
Clcn3 C T 8: 61,387,551 (GRCm39) A233T probably damaging Het
Cntnap3 A G 13: 64,946,949 (GRCm39) F160S probably damaging Het
Ctnnd2 A G 15: 30,881,276 (GRCm39) S719G probably damaging Het
Exosc2 G A 2: 31,564,755 (GRCm39) V107I probably benign Het
Fam83b C A 9: 76,399,085 (GRCm39) V673F probably benign Het
Fras1 T C 5: 96,927,929 (GRCm39) F3781L probably damaging Het
Gal3st1 T A 11: 3,948,660 (GRCm39) L289H probably damaging Het
Garem1 T C 18: 21,281,370 (GRCm39) I329V probably benign Het
Gli3 G A 13: 15,900,296 (GRCm39) G1228S possibly damaging Het
Gpbp1l1 T C 4: 116,431,558 (GRCm39) F72S possibly damaging Het
Hao1 T A 2: 134,390,181 (GRCm39) M53L probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Iqcm A G 8: 76,480,083 (GRCm39) E347G probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kcnrg A G 14: 61,845,106 (GRCm39) I49V possibly damaging Het
Lrrc8e G A 8: 4,285,346 (GRCm39) G524S probably benign Het
Lrrn1 A T 6: 107,545,261 (GRCm39) Y353F probably damaging Het
Mdn1 A G 4: 32,739,849 (GRCm39) D3701G possibly damaging Het
Mtmr2 A G 9: 13,716,767 (GRCm39) T623A probably benign Het
Ndst4 C A 3: 125,508,296 (GRCm39) S287* probably null Het
Ntrk3 A C 7: 77,952,480 (GRCm39) M579R probably benign Het
Oas1a G A 5: 121,037,317 (GRCm39) L237F probably damaging Het
Or2aj4 T C 16: 19,385,270 (GRCm39) D121G probably benign Het
Or5bw2 A T 7: 6,573,818 (GRCm39) Y276F probably damaging Het
Or7e166 T C 9: 19,624,939 (GRCm39) M272T probably benign Het
Paqr5 T A 9: 61,863,507 (GRCm39) I272F probably damaging Het
Pcdha11 T A 18: 37,140,591 (GRCm39) V740E probably damaging Het
Pdgfra A C 5: 75,328,588 (GRCm39) N240T possibly damaging Het
Plbd2 G A 5: 120,632,445 (GRCm39) Q186* probably null Het
Plce1 G A 19: 38,766,337 (GRCm39) E2121K possibly damaging Het
Ppargc1a C A 5: 51,653,080 (GRCm39) G161C probably damaging Het
Ptprk T C 10: 28,210,476 (GRCm39) I166T possibly damaging Het
Rhox8 GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT X: 36,966,991 (GRCm39) probably benign Het
Rpap2 T A 5: 107,768,455 (GRCm39) L431Q probably damaging Het
Rslcan18 T A 13: 67,250,128 (GRCm39) K160* probably null Het
Sema7a T C 9: 57,862,188 (GRCm39) F180L probably benign Het
Sh2d3c C T 2: 32,643,039 (GRCm39) L741F probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Skic2 A T 17: 35,060,078 (GRCm39) D897E probably benign Het
Skint6 C T 4: 112,664,037 (GRCm39) probably null Het
Slc35f3 T C 8: 127,108,993 (GRCm39) S181P probably damaging Het
Slc4a9 A T 18: 36,662,269 (GRCm39) E127V probably null Het
Speg C T 1: 75,364,735 (GRCm39) T372I probably damaging Het
Syce1l A G 8: 114,381,735 (GRCm39) T204A probably benign Het
Tas2r138 T A 6: 40,589,392 (GRCm39) M285L probably benign Het
Tbc1d10a G C 11: 4,163,604 (GRCm39) K285N probably damaging Het
Trim9 T A 12: 70,393,228 (GRCm39) M239L probably benign Het
Trp53bp1 A G 2: 121,039,761 (GRCm39) S1293P probably benign Het
Uaca C T 9: 60,779,498 (GRCm39) T1295M possibly damaging Het
Ubald1 G T 16: 4,693,433 (GRCm39) Q161K possibly damaging Het
Vps45 T G 3: 95,950,237 (GRCm39) T231P probably damaging Het
Wdr17 A T 8: 55,088,512 (GRCm39) D1186E probably benign Het
Zfp534 G A 4: 147,766,731 (GRCm39) T8I probably benign Het
Zfp68 T C 5: 138,605,517 (GRCm39) N269D probably benign 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
R6967:Ugt1a10 UTSW 1 88,142,845 (GRCm39) missense probably damaging 1.00
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
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'- CCACCCCAATTTTCTACAATGG -3'
(R):5'- TGCTGTAGGTATGAATACAAGTAGG -3'

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