Incidental Mutation 'R1698:Ugcg'
ID 192386
Institutional Source Beutler Lab
Gene Symbol Ugcg
Ensembl Gene ENSMUSG00000028381
Gene Name UDP-glucose ceramide glucosyltransferase
Synonyms Epcs21, Ugcgl, GlcT-1
MMRRC Submission 039731-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1698 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 59189452-59222833 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 59207798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 46 (P46S)
Ref Sequence ENSEMBL: ENSMUSP00000030074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030074]
AlphaFold O88693
Predicted Effect probably benign
Transcript: ENSMUST00000030074
AA Change: P46S

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000030074
Gene: ENSMUSG00000028381
AA Change: P46S

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 51 278 1.3e-26 PFAM
Pfam:Glyco_transf_21 106 278 8.4e-61 PFAM
Pfam:Glyco_trans_2_3 139 368 9.6e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133996
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155153
Meta Mutation Damage Score 0.0799 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the first glycosylation step in the biosynthesis of glycosphingolipids, which are membrane components containing lipid and sugar moieties. The product of this reaction is glucosylceramide, which is the core structure of many glycosphingolipids. [provided by RefSeq, Dec 2014]
PHENOTYPE: At embryonic day 7.5, embryos homozygous for a null mutation exhibit decreased size, markedly reduced extraembryonic tissues and a large increase in cells undergoing apoptosis. Mutants die by embryonic day 8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A C 6: 121,622,117 (GRCm39) E340A possibly damaging Het
Abca13 A G 11: 9,264,507 (GRCm39) D2963G probably benign Het
Actn3 T C 19: 4,912,235 (GRCm39) D783G possibly damaging Het
Adamtsl2 A G 2: 26,993,139 (GRCm39) E723G possibly damaging Het
Agrn G T 4: 156,251,015 (GRCm39) Q1931K probably benign Het
Ankrd27 G A 7: 35,313,946 (GRCm39) A426T probably benign Het
Atg9b C A 5: 24,593,186 (GRCm39) G406C probably damaging Het
C1ra A T 6: 124,499,725 (GRCm39) Q637L probably benign Het
Cdhr2 A T 13: 54,867,394 (GRCm39) M438L probably benign Het
Cep350 T C 1: 155,829,104 (GRCm39) I267V possibly damaging Het
Chrna5 A G 9: 54,911,926 (GRCm39) Y138C probably damaging Het
Chst3 T A 10: 60,021,525 (GRCm39) M441L probably benign Het
Cmya5 G A 13: 93,200,027 (GRCm39) P3434S probably benign Het
Cog2 T A 8: 125,252,422 (GRCm39) L42Q probably damaging Het
Cpq A T 15: 33,250,272 (GRCm39) I210F probably benign Het
Crnn C A 3: 93,055,765 (GRCm39) Q184K probably damaging Het
Csnka2ip A T 16: 64,298,422 (GRCm39) Y647* probably null Het
D5Ertd579e C T 5: 36,761,874 (GRCm39) R1331H probably benign Het
Dennd5a C T 7: 109,516,587 (GRCm39) probably null Het
Dync1h1 A G 12: 110,593,426 (GRCm39) Q1231R possibly damaging Het
Erbin T A 13: 103,970,239 (GRCm39) I1126F possibly damaging Het
Fastkd1 T C 2: 69,532,813 (GRCm39) D518G probably benign Het
Gcc1 A G 6: 28,421,110 (GRCm39) L69P possibly damaging Het
Gkn1 T C 6: 87,324,151 (GRCm39) Y119C probably damaging Het
Gmpr T G 13: 45,670,520 (GRCm39) W81G probably benign Het
Gyg1 T A 3: 20,192,215 (GRCm39) I236F probably benign Het
Hcrtr2 T C 9: 76,153,735 (GRCm39) Y219C probably damaging Het
Hmcn1 G A 1: 150,441,120 (GRCm39) Q5379* probably null Het
Kank1 T C 19: 25,388,681 (GRCm39) C785R probably benign Het
Lrp1b A T 2: 40,741,818 (GRCm39) C3036* probably null Het
Mdga2 T C 12: 66,736,109 (GRCm39) D373G probably damaging Het
Mgat2 A T 12: 69,232,493 (GRCm39) I356F probably benign Het
Miga2 A G 2: 30,268,009 (GRCm39) D346G probably damaging Het
Mprip T A 11: 59,651,084 (GRCm39) L1596Q possibly damaging Het
Mroh2b G A 15: 4,943,622 (GRCm39) R386Q probably benign Het
Mst1r T A 9: 107,797,179 (GRCm39) S1349R probably benign Het
Mtmr3 C T 11: 4,442,825 (GRCm39) R403H possibly damaging Het
Mycbpap G A 11: 94,398,969 (GRCm39) Q460* probably null Het
Myo9a T C 9: 59,775,464 (GRCm39) V1025A probably benign Het
Ncapd2 C T 6: 125,145,553 (GRCm39) E1365K probably null Het
Nkiras2 C A 11: 100,515,989 (GRCm39) D105E probably damaging Het
Nolc1 T G 19: 46,069,870 (GRCm39) probably null Het
Nos1 T C 5: 118,005,297 (GRCm39) F6L probably benign Het
Or10j3 A T 1: 173,030,938 (GRCm39) N5I probably damaging Het
Or12e1 G T 2: 87,022,081 (GRCm39) V17L probably benign Het
Or2t46 T C 11: 58,472,077 (GRCm39) Y136H probably damaging Het
Or2w1b C T 13: 21,300,735 (GRCm39) T291I probably benign Het
Or4f54 T A 2: 111,122,905 (GRCm39) C97* probably null Het
Or8b46 T A 9: 38,450,552 (GRCm39) Y120* probably null Het
Pfkm A G 15: 98,026,199 (GRCm39) E598G possibly damaging Het
Phf2 A T 13: 48,961,106 (GRCm39) D861E unknown Het
Polr2a A G 11: 69,630,703 (GRCm39) probably null Het
Popdc2 G A 16: 38,189,853 (GRCm39) V167M probably damaging Het
Ptpn22 T C 3: 103,793,114 (GRCm39) S422P probably benign Het
Rasa2 T C 9: 96,450,428 (GRCm39) K490R possibly damaging Het
Rbfox3 T A 11: 118,386,047 (GRCm39) D286V probably damaging Het
Rdh13 A G 7: 4,430,790 (GRCm39) W223R probably damaging Het
Riok3 T C 18: 12,261,986 (GRCm39) S7P probably benign Het
Rnaseh2b A G 14: 62,591,081 (GRCm39) E144G probably benign Het
Rnf20 C T 4: 49,651,498 (GRCm39) Q655* probably null Het
Rpap2 T C 5: 107,751,416 (GRCm39) Y8H probably damaging Het
Slc5a10 T C 11: 61,600,428 (GRCm39) Y181C probably benign Het
Snd1 G T 6: 28,888,252 (GRCm39) G896* probably null Het
Spast C T 17: 74,663,155 (GRCm39) Q158* probably null Het
Tas2r104 G A 6: 131,662,547 (GRCm39) S54F probably damaging Het
Tcaf2 C T 6: 42,604,951 (GRCm39) W611* probably null Het
Thoc2l C T 5: 104,668,376 (GRCm39) A966V probably benign Het
Timp4 G A 6: 115,227,364 (GRCm39) probably null Het
Tmem45a G A 16: 56,643,933 (GRCm39) S72L probably benign Het
Tnrc18 T C 5: 142,774,458 (GRCm39) T124A possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ttn T C 2: 76,773,259 (GRCm39) D2381G probably damaging Het
Uevld T C 7: 46,605,372 (GRCm39) T41A possibly damaging Het
Unc5d T C 8: 29,186,506 (GRCm39) E527G probably damaging Het
Vmn2r125 C T 4: 156,703,333 (GRCm39) T237I probably benign Het
Vmn2r63 A C 7: 42,583,038 (GRCm39) I59S probably benign Het
Vps72 G A 3: 95,026,006 (GRCm39) S106N probably benign Het
Zan A C 5: 137,407,931 (GRCm39) probably benign Het
Zbtb38 T C 9: 96,567,515 (GRCm39) K1190E probably benign Het
Zc3h6 T C 2: 128,859,278 (GRCm39) V1103A probably benign Het
Zfp407 G A 18: 84,580,282 (GRCm39) T277I probably damaging Het
Zfp804b A G 5: 6,819,509 (GRCm39) S1149P probably damaging Het
Other mutations in Ugcg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01447:Ugcg APN 4 59,213,865 (GRCm39) missense possibly damaging 0.94
IGL01768:Ugcg APN 4 59,217,216 (GRCm39) critical splice donor site probably null
IGL02636:Ugcg APN 4 59,207,763 (GRCm39) missense possibly damaging 0.73
IGL02672:Ugcg APN 4 59,218,587 (GRCm39) splice site probably benign
IGL02798:Ugcg APN 4 59,220,346 (GRCm39) missense probably damaging 1.00
congee UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
cream_o_wheat UTSW 4 59,220,387 (GRCm39) missense possibly damaging 0.91
gruel UTSW 4 59,189,690 (GRCm39) missense probably benign
Porridge UTSW 4 59,219,530 (GRCm39) missense possibly damaging 0.86
slop UTSW 4 59,211,883 (GRCm39) missense probably benign 0.16
wheatina UTSW 4 59,220,272 (GRCm39) missense probably damaging 0.96
PIT4382001:Ugcg UTSW 4 59,213,246 (GRCm39) missense possibly damaging 0.68
R0013:Ugcg UTSW 4 59,213,931 (GRCm39) missense possibly damaging 0.82
R0013:Ugcg UTSW 4 59,213,931 (GRCm39) missense possibly damaging 0.82
R0068:Ugcg UTSW 4 59,217,130 (GRCm39) missense probably benign 0.16
R0068:Ugcg UTSW 4 59,217,130 (GRCm39) missense probably benign 0.16
R0119:Ugcg UTSW 4 59,217,036 (GRCm39) missense possibly damaging 0.85
R0230:Ugcg UTSW 4 59,189,739 (GRCm39) nonsense probably null
R0299:Ugcg UTSW 4 59,217,036 (GRCm39) missense possibly damaging 0.85
R0384:Ugcg UTSW 4 59,220,387 (GRCm39) missense possibly damaging 0.91
R0499:Ugcg UTSW 4 59,217,036 (GRCm39) missense possibly damaging 0.85
R0645:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R0688:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R0726:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R0802:Ugcg UTSW 4 59,189,685 (GRCm39) missense probably benign 0.00
R0803:Ugcg UTSW 4 59,189,685 (GRCm39) missense probably benign 0.00
R0811:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R0812:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R0828:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R0831:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R0944:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R0945:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R0947:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R1104:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R1209:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R1210:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R1252:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R1253:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R1255:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R1488:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R1490:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R1548:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R1771:Ugcg UTSW 4 59,207,775 (GRCm39) missense probably benign 0.05
R1776:Ugcg UTSW 4 59,207,775 (GRCm39) missense probably benign 0.05
R1781:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R1794:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R1840:Ugcg UTSW 4 59,219,517 (GRCm39) missense probably damaging 1.00
R1942:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R2228:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R2229:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R2237:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R2239:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R2314:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R2337:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R2338:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R2340:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R2422:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R2426:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R2433:Ugcg UTSW 4 59,207,876 (GRCm39) missense possibly damaging 0.89
R2680:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R3076:Ugcg UTSW 4 59,213,922 (GRCm39) missense probably damaging 1.00
R3078:Ugcg UTSW 4 59,213,922 (GRCm39) missense probably damaging 1.00
R3689:Ugcg UTSW 4 59,211,883 (GRCm39) missense probably benign 0.16
R3732:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R3732:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R3733:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R3766:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R3767:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R3768:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R3769:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R3771:Ugcg UTSW 4 59,189,690 (GRCm39) missense probably benign
R3847:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R3848:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R3916:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R3917:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R3958:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R3959:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R4023:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R4024:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R4025:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R4065:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R4066:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
R4427:Ugcg UTSW 4 59,219,555 (GRCm39) missense probably benign 0.02
R5842:Ugcg UTSW 4 59,219,545 (GRCm39) missense possibly damaging 0.93
R6012:Ugcg UTSW 4 59,220,272 (GRCm39) missense probably damaging 0.96
R6080:Ugcg UTSW 4 59,218,524 (GRCm39) missense possibly damaging 0.70
R6762:Ugcg UTSW 4 59,219,530 (GRCm39) missense possibly damaging 0.86
R7194:Ugcg UTSW 4 59,213,210 (GRCm39) missense probably damaging 0.99
R7286:Ugcg UTSW 4 59,217,111 (GRCm39) missense possibly damaging 0.95
R7362:Ugcg UTSW 4 59,217,109 (GRCm39) missense probably damaging 1.00
R7472:Ugcg UTSW 4 59,217,156 (GRCm39) missense probably benign
R7638:Ugcg UTSW 4 59,220,299 (GRCm39) missense probably benign 0.26
R7866:Ugcg UTSW 4 59,211,927 (GRCm39) missense possibly damaging 0.71
R8170:Ugcg UTSW 4 59,211,974 (GRCm39) missense possibly damaging 0.71
R8488:Ugcg UTSW 4 59,213,896 (GRCm39) missense probably benign 0.00
R8793:Ugcg UTSW 4 59,207,794 (GRCm39) missense probably benign 0.22
R9441:Ugcg UTSW 4 59,207,843 (GRCm39) missense probably damaging 1.00
Y4336:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
Y4337:Ugcg UTSW 4 59,207,798 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- TCTTGCTCCTGGTTCTTGTGTTT -3'
(R):5'- AGGCTAGGCTGTTTTCACAATCA -3'

Sequencing Primer
(F):5'- TCTAACCCAACTCTGTTCAG -3'
(R):5'- CACGTATTCTTTCATTCCCC -3'
Posted On 2014-05-14