Incidental Mutation 'R3906:Ugt8a'
ID 309173
Institutional Source Beutler Lab
Gene Symbol Ugt8a
Ensembl Gene ENSMUSG00000032854
Gene Name UDP galactosyltransferase 8A
Synonyms Ugt8, Cgt, mCerGT
MMRRC Submission 040813-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.804) question?
Stock # R3906 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 125658920-125732268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125708631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 160 (T160A)
Ref Sequence ENSEMBL: ENSMUSP00000143605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057944] [ENSMUST00000198610]
AlphaFold Q64676
Predicted Effect possibly damaging
Transcript: ENSMUST00000057944
AA Change: T160A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000050852
Gene: ENSMUSG00000032854
AA Change: T160A

DomainStartEndE-ValueType
Pfam:UDPGT 21 510 4.2e-121 PFAM
Pfam:Glyco_tran_28_C 326 437 6.4e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196481
Predicted Effect possibly damaging
Transcript: ENSMUST00000198610
AA Change: T160A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143605
Gene: ENSMUSG00000032854
AA Change: T160A

DomainStartEndE-ValueType
Pfam:UDPGT 21 510 4.2e-121 PFAM
Pfam:Glyco_tran_28_C 326 437 6.4e-9 PFAM
Meta Mutation Damage Score 0.3514 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (36/37)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,067,151 (GRCm39) V1352A possibly damaging Het
Abcb7 G T X: 103,327,765 (GRCm39) Q715K probably benign Het
Adamts3 C A 5: 90,009,214 (GRCm39) G150C probably damaging Het
Ank2 A G 3: 126,810,547 (GRCm39) L513P probably damaging Het
Cacng1 C A 11: 107,607,118 (GRCm39) V34L probably benign Het
Cd1d1 A G 3: 86,906,063 (GRCm39) W71R probably damaging Het
Cdhr3 A G 12: 33,103,427 (GRCm39) F397L probably damaging Het
Ces2a A G 8: 105,465,940 (GRCm39) I325V probably benign Het
Ctsq C T 13: 61,186,585 (GRCm39) V140M probably damaging Het
Cyp4f18 A G 8: 72,754,926 (GRCm39) probably benign Het
Ddi2 T C 4: 141,411,592 (GRCm39) D440G probably benign Het
Dsg3 G A 18: 20,671,556 (GRCm39) G754R probably damaging Het
Endod1 T A 9: 14,292,151 (GRCm39) Y39F probably benign Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fn1 C T 1: 71,647,072 (GRCm39) G1482R probably damaging Het
Fpr2 A G 17: 18,113,811 (GRCm39) K269R probably benign Het
Frk T G 10: 34,460,052 (GRCm39) L216V probably benign Het
Gan G A 8: 117,920,873 (GRCm39) V370M probably damaging Het
Grik1 A G 16: 87,803,337 (GRCm39) I285T probably benign Het
Hspa1a C T 17: 35,190,703 (GRCm39) V67M probably damaging Het
Kbtbd8 T A 6: 95,103,565 (GRCm39) Y405N probably damaging Het
Kcnj4 G T 15: 79,369,946 (GRCm39) H11Q probably benign Het
Kif26a T A 12: 112,143,324 (GRCm39) S1193T probably benign Het
Kmt2e A G 5: 23,706,624 (GRCm39) N1396D probably benign Het
Lasp1 G A 11: 97,690,653 (GRCm39) V12M probably damaging Het
Lrrk1 G T 7: 65,944,651 (GRCm39) T653K possibly damaging Het
Meiob A G 17: 25,046,922 (GRCm39) Y182C probably benign Het
Myh6 T C 14: 55,194,412 (GRCm39) D739G probably benign Het
Ninl T C 2: 150,822,039 (GRCm39) D21G probably damaging Het
Or11g27 C T 14: 50,771,211 (GRCm39) T114I probably benign Het
Or9i16 C T 19: 13,865,070 (GRCm39) C168Y probably damaging Het
Pacsin2 A C 15: 83,263,256 (GRCm39) V125G probably damaging Het
Pfas G A 11: 68,879,112 (GRCm39) probably benign Het
Pla2g4f C T 2: 120,130,980 (GRCm39) R825Q probably benign Het
Prkd1 A T 12: 50,435,209 (GRCm39) V506E possibly damaging Het
Psmd2 A G 16: 20,474,392 (GRCm39) D316G probably benign Het
Ryr2 T A 13: 11,753,095 (GRCm39) D1742V possibly damaging Het
Szt2 G A 4: 118,235,466 (GRCm39) probably benign Het
Xrcc6 A G 15: 81,913,772 (GRCm39) T378A probably benign 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
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'- CAGGCAGCAGGTTGTACTTC -3'
(R):5'- TTTTCTGGGAGATTGACAGCAG -3'

Sequencing Primer
(F):5'- TGCATTATCCTCTCATATTTCGGGAG -3'
(R):5'- GCAGTTGAACTGGTTGACATAC -3'
Posted On 2015-04-17