Incidental Mutation 'R1566:Ugt8a'
ID 175252
Institutional Source Beutler Lab
Gene Symbol Ugt8a
Ensembl Gene ENSMUSG00000032854
Gene Name UDP galactosyltransferase 8A
Synonyms Ugt8, Cgt, mCerGT
MMRRC Submission 039605-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.804) question?
Stock # R1566 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 125658920-125732268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125669207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 299 (Y299C)
Ref Sequence ENSEMBL: ENSMUSP00000143605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057944] [ENSMUST00000198610]
AlphaFold Q64676
Predicted Effect probably damaging
Transcript: ENSMUST00000057944
AA Change: Y299C

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000050852
Gene: ENSMUSG00000032854
AA Change: Y299C

DomainStartEndE-ValueType
Pfam:UDPGT 21 510 4.2e-121 PFAM
Pfam:Glyco_tran_28_C 326 437 6.4e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000198610
AA Change: Y299C

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143605
Gene: ENSMUSG00000032854
AA Change: Y299C

DomainStartEndE-ValueType
Pfam:UDPGT 21 510 4.2e-121 PFAM
Pfam:Glyco_tran_28_C 326 437 6.4e-9 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mutants fail to make galactolipid galactocerebroside and its sulfated derivative that are normal myelin constituents. Mutants have tremors, ataxia, progressive hindlimb paralysis and vacuole formation in ventral spinal cord due to abnormal myelin sheath. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,679,632 (GRCm39) I247F probably benign Het
Afap1l1 T C 18: 61,888,714 (GRCm39) N119S probably benign Het
Ap2a1 T C 7: 44,552,904 (GRCm39) D721G probably benign Het
Ap3m2 C T 8: 23,293,967 (GRCm39) V28M probably damaging Het
Arhgef7 A G 8: 11,832,620 (GRCm39) T32A possibly damaging Het
Avl9 C T 6: 56,713,467 (GRCm39) R242* probably null Het
Bsn G A 9: 108,003,184 (GRCm39) T407I probably benign Het
Capn3 A T 2: 120,333,474 (GRCm39) R627S possibly damaging Het
Car13 G A 3: 14,715,758 (GRCm39) R92Q probably benign Het
Clcn1 T C 6: 42,268,374 (GRCm39) I149T possibly damaging Het
Col1a2 G T 6: 4,523,613 (GRCm39) G514V probably damaging Het
Ctsw C A 19: 5,515,445 (GRCm39) C347F probably damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Eif1ad8 A T 12: 87,564,001 (GRCm39) H112L probably benign Het
Eml1 T A 12: 108,438,151 (GRCm39) V97D probably damaging Het
Epb41l1 A G 2: 156,363,879 (GRCm39) E796G probably benign Het
Gdnf A G 15: 7,863,895 (GRCm39) K102R probably benign Het
Gm1110 T C 9: 26,792,166 (GRCm39) E618G probably damaging Het
Gmnc T C 16: 26,782,689 (GRCm39) D22G probably damaging Het
Greb1 T C 12: 16,761,829 (GRCm39) D517G possibly damaging Het
Gsta1 A T 9: 78,149,741 (GRCm39) K185* probably null Het
Ift88 A G 14: 57,678,468 (GRCm39) D160G probably benign Het
Intu T A 3: 40,647,008 (GRCm39) I627N probably damaging Het
Itgav T A 2: 83,566,974 (GRCm39) F101L probably damaging Het
Kars1 C T 8: 112,724,290 (GRCm39) V475I probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Klra7 A G 6: 130,208,564 (GRCm39) V6A probably damaging Het
Krtap6-2 A G 16: 89,216,626 (GRCm39) S114P unknown Het
Ldlrad4 T C 18: 68,383,669 (GRCm39) S122P probably benign Het
Lig4 C A 8: 10,023,650 (GRCm39) L43F probably benign Het
Mfsd4a T C 1: 131,986,917 (GRCm39) D137G probably damaging Het
Mmel1 C T 4: 154,968,110 (GRCm39) R149C probably damaging Het
Morc2b T A 17: 33,355,948 (GRCm39) H608L probably benign Het
Mrgpra6 G A 7: 46,838,652 (GRCm39) T182I probably benign Het
Nat8l C A 5: 34,158,200 (GRCm39) N203K probably benign Het
Nin A T 12: 70,101,253 (GRCm39) V448E probably damaging Het
Or10a4 T G 7: 106,696,759 (GRCm39) F29C probably damaging Het
Or2m12 T A 16: 19,105,077 (GRCm39) M139L possibly damaging Het
Or5k15 T A 16: 58,709,903 (GRCm39) I227F probably damaging Het
Or8k21 G A 2: 86,145,129 (GRCm39) T167I probably benign Het
Pank4 T C 4: 155,064,978 (GRCm39) L759P probably damaging Het
Pcm1 T A 8: 41,743,810 (GRCm39) N1152K probably damaging Het
Pitpnm3 A T 11: 71,949,785 (GRCm39) probably null Het
Plekhg3 T C 12: 76,618,839 (GRCm39) M497T possibly damaging Het
Ppfia3 T C 7: 44,990,112 (GRCm39) D1138G probably damaging Het
Prl6a1 T A 13: 27,499,410 (GRCm39) S59R possibly damaging Het
Pth2r A G 1: 65,427,697 (GRCm39) S457G possibly damaging Het
Rbm25 T A 12: 83,721,828 (GRCm39) N671K probably damaging Het
Rbm26 T A 14: 105,397,980 (GRCm39) K47N unknown Het
Ryr1 T A 7: 28,791,600 (GRCm39) I1435F possibly damaging Het
Scin T A 12: 40,131,673 (GRCm39) H287L probably benign Het
Serpinb9e T C 13: 33,437,477 (GRCm39) L120P probably damaging Het
Slc34a1 A C 13: 55,559,844 (GRCm39) probably null Het
Slc39a10 A G 1: 46,875,245 (GRCm39) F19S possibly damaging Het
Sos1 A G 17: 80,761,345 (GRCm39) V117A probably damaging Het
Spta1 C A 1: 174,012,272 (GRCm39) N359K probably benign Het
Sspo G A 6: 48,443,804 (GRCm39) probably null Het
Stx5a T A 19: 8,719,675 (GRCm39) D13E probably damaging Het
Supt16 G A 14: 52,414,112 (GRCm39) A489V probably damaging Het
Tap1 T A 17: 34,408,520 (GRCm39) L253Q probably benign Het
Tmc6 A G 11: 117,660,262 (GRCm39) S659P probably damaging Het
Tnfsf14 T C 17: 57,500,876 (GRCm39) D65G probably benign Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Upk1a A G 7: 30,309,145 (GRCm39) V59A possibly damaging Het
Usp38 T C 8: 81,711,432 (GRCm39) T868A probably benign Het
Wdsub1 G A 2: 59,707,059 (GRCm39) H58Y probably damaging Het
Zc3h7b T C 15: 81,653,035 (GRCm39) S19P possibly damaging Het
Zfp385b A C 2: 77,246,257 (GRCm39) F257V probably benign Het
Zmym4 A C 4: 126,804,940 (GRCm39) I188S possibly damaging Het
Other mutations in Ugt8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Ugt8a APN 3 125,708,285 (GRCm39) critical splice donor site probably null
IGL01934:Ugt8a APN 3 125,708,424 (GRCm39) missense probably benign 0.18
IGL02435:Ugt8a APN 3 125,660,969 (GRCm39) missense probably benign 0.00
IGL03050:Ugt8a UTSW 3 125,669,139 (GRCm39) missense possibly damaging 0.63
R0041:Ugt8a UTSW 3 125,708,739 (GRCm39) missense probably benign 0.00
R0453:Ugt8a UTSW 3 125,708,606 (GRCm39) missense probably benign 0.03
R1314:Ugt8a UTSW 3 125,665,397 (GRCm39) missense probably benign 0.00
R1544:Ugt8a UTSW 3 125,709,098 (GRCm39) missense probably benign 0.06
R1770:Ugt8a UTSW 3 125,667,852 (GRCm39) missense probably benign 0.11
R2126:Ugt8a UTSW 3 125,669,195 (GRCm39) missense probably damaging 0.98
R2972:Ugt8a UTSW 3 125,708,957 (GRCm39) missense probably benign
R2973:Ugt8a UTSW 3 125,708,957 (GRCm39) missense probably benign
R3547:Ugt8a UTSW 3 125,661,031 (GRCm39) nonsense probably null
R3906:Ugt8a UTSW 3 125,708,631 (GRCm39) missense possibly damaging 0.95
R3907:Ugt8a UTSW 3 125,708,631 (GRCm39) missense possibly damaging 0.95
R4032:Ugt8a UTSW 3 125,667,807 (GRCm39) missense probably damaging 1.00
R5235:Ugt8a UTSW 3 125,661,129 (GRCm39) missense probably damaging 1.00
R5890:Ugt8a UTSW 3 125,669,202 (GRCm39) missense probably benign 0.01
R6790:Ugt8a UTSW 3 125,665,340 (GRCm39) missense possibly damaging 0.93
R6937:Ugt8a UTSW 3 125,709,250 (GRCm39) start gained probably benign
R7298:Ugt8a UTSW 3 125,709,065 (GRCm39) missense probably benign 0.30
R8730:Ugt8a UTSW 3 125,732,105 (GRCm39) start gained probably benign
R9211:Ugt8a UTSW 3 125,661,130 (GRCm39) missense probably damaging 1.00
R9385:Ugt8a UTSW 3 125,665,263 (GRCm39) missense probably benign
R9649:Ugt8a UTSW 3 125,708,338 (GRCm39) missense probably damaging 0.99
R9666:Ugt8a UTSW 3 125,708,957 (GRCm39) missense probably benign
R9762:Ugt8a UTSW 3 125,708,900 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ATCATCTAGCCAGTGAATCAAGGTGC -3'
(R):5'- TGGGGTCTGAGCCTCTCAGCTATT -3'

Sequencing Primer
(F):5'- TGAATCAAGGTGCTAGGCTCTAC -3'
(R):5'- ggtaagtgtccataatccgtaatag -3'
Posted On 2014-04-24