Incidental Mutation 'R5235:Ugt8a'
ID 398281
Institutional Source Beutler Lab
Gene Symbol Ugt8a
Ensembl Gene ENSMUSG00000032854
Gene Name UDP galactosyltransferase 8A
Synonyms Ugt8, Cgt, mCerGT
MMRRC Submission 042807-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.804) question?
Stock # R5235 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 125658920-125732268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 125661129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 454 (H454Q)
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: H454Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050852
Gene: ENSMUSG00000032854
AA Change: H454Q

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: H454Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143605
Gene: ENSMUSG00000032854
AA Change: H454Q

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C A 7: 41,274,256 (GRCm39) H126Q possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Aga A G 8: 53,967,361 (GRCm39) H124R probably damaging Het
Ank1 G A 8: 23,572,212 (GRCm39) G49R probably damaging Het
Aox1 G T 1: 58,096,714 (GRCm39) V270L possibly damaging Het
Arfrp1 T C 2: 181,001,298 (GRCm39) H145R probably benign Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Atg3 A G 16: 44,979,520 (GRCm39) T20A probably benign Het
C3ar1 A G 6: 122,827,881 (GRCm39) L112P probably damaging Het
Clip2 G A 5: 134,551,645 (GRCm39) T159M possibly damaging Het
Csmd3 T C 15: 47,492,674 (GRCm39) T3156A probably benign Het
Dag1 T C 9: 108,084,897 (GRCm39) Y748C probably damaging Het
Dek A T 13: 47,239,955 (GRCm39) probably null Het
Fras1 G A 5: 96,748,609 (GRCm39) V695M probably benign Het
Gpx7 A G 4: 108,258,189 (GRCm39) S135P probably damaging Het
Ido2 A T 8: 25,037,202 (GRCm39) I168N probably damaging Het
Lca5 A T 9: 83,305,107 (GRCm39) L233* probably null Het
Liph A C 16: 21,802,785 (GRCm39) L95V probably damaging Het
Mast1 A T 8: 85,640,068 (GRCm39) L1113Q probably damaging Het
Nlrx1 C T 9: 44,175,047 (GRCm39) G243D probably damaging Het
Or4ac1-ps1 G A 2: 88,370,769 (GRCm39) noncoding transcript Het
Or5d40 T A 2: 88,015,912 (GRCm39) D230E probably benign Het
Otoa T C 7: 120,755,693 (GRCm39) L1033P probably damaging Het
Ovol3 A T 7: 29,932,899 (GRCm39) Y179N possibly damaging Het
Papss2 A G 19: 32,616,619 (GRCm39) N215S probably benign Het
Pcdhga8 T C 18: 37,860,488 (GRCm39) Y515H probably damaging Het
Phlda1 CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC CCAGCCCCAACCTCAGCCCCAACC 10: 111,343,252 (GRCm39) probably benign Het
Scn2a A T 2: 65,582,355 (GRCm39) N1568Y probably damaging Het
Sec16b A T 1: 157,362,334 (GRCm39) I251F probably benign Het
Slc29a4 T A 5: 142,704,523 (GRCm39) I355N probably damaging Het
Snx29 G T 16: 11,231,110 (GRCm39) C39F possibly damaging Het
Spata16 A G 3: 26,721,781 (GRCm39) M101V probably benign Het
Stat2 T C 10: 128,126,901 (GRCm39) probably null Het
Tdpoz8 A G 3: 92,981,393 (GRCm39) D137G probably damaging Het
Tnrc6c G T 11: 117,651,555 (GRCm39) V1693F probably benign Het
Tpm3 A G 3: 89,993,802 (GRCm39) E97G probably damaging Het
Vmn2r27 T A 6: 124,169,013 (GRCm39) I706L probably damaging Het
Wdfy3 T C 5: 101,994,972 (GRCm39) I3256V probably null 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
R1566:Ugt8a UTSW 3 125,669,207 (GRCm39) missense probably damaging 0.96
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
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'- ATGTCCATTAACTGTGCTATGCTC -3'
(R):5'- GCACCCTTACATGCTTAAAGAG -3'

Sequencing Primer
(F):5'- AACTGTGCTATGCTCATTTTTAGACC -3'
(R):5'- CCCTTACATGCTTAAAGAGGAATATC -3'
Posted On 2016-07-06