Incidental Mutation 'R0726:Ugcg'
ID 63751
Institutional Source Beutler Lab
Gene Symbol Ugcg
Ensembl Gene ENSMUSG00000028381
Gene Name UDP-glucose ceramide glucosyltransferase
Synonyms Epcs21, Ugcgl, GlcT-1
MMRRC Submission 038908-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0726 (G1)
Quality Score 125
Status 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: 99.2%
  • 3x: 98.5%
  • 10x: 96.1%
  • 20x: 89.2%
Validation Efficiency 98% (90/92)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 A G 7: 143,425,498 (GRCm39) D49G probably damaging Het
Alg12 T C 15: 88,690,850 (GRCm39) Y256C probably damaging Het
Alox15 T A 11: 70,241,021 (GRCm39) D160V probably damaging Het
Aox1 T C 1: 58,373,941 (GRCm39) probably benign Het
Bbs9 G T 9: 22,705,119 (GRCm39) A729S probably damaging Het
Bltp3a T C 17: 28,104,463 (GRCm39) V503A possibly damaging Het
Bmp2k T A 5: 97,235,353 (GRCm39) probably benign Het
Braf C T 6: 39,639,082 (GRCm39) R223Q possibly damaging Het
Cd101 A T 3: 100,927,938 (GRCm39) S48T possibly damaging Het
Cdh9 T G 15: 16,831,130 (GRCm39) D322E probably benign Het
Col28a1 C T 6: 8,014,495 (GRCm39) probably null Het
Cpxm1 G A 2: 130,232,859 (GRCm39) R712W probably damaging Het
Csnk1g1 T C 9: 65,939,637 (GRCm39) probably benign Het
Cyp2d37-ps A C 15: 82,574,650 (GRCm39) noncoding transcript Het
Cyth3 T C 5: 143,678,397 (GRCm39) V115A probably benign Het
Dnah9 C T 11: 65,856,507 (GRCm39) V2885M probably damaging Het
Dock9 G T 14: 121,889,180 (GRCm39) Y326* probably null Het
Espl1 T C 15: 102,231,033 (GRCm39) I1844T probably benign Het
Fam20a T A 11: 109,568,020 (GRCm39) N357Y probably damaging Het
Fancc C A 13: 63,471,225 (GRCm39) R385L probably benign Het
Foxe3 A T 4: 114,782,447 (GRCm39) L255H unknown Het
Frem2 T C 3: 53,427,047 (GRCm39) D2967G possibly damaging Het
Gabra6 T G 11: 42,205,954 (GRCm39) T301P probably damaging Het
Ganab T A 19: 8,888,477 (GRCm39) Y511N probably damaging Het
Grm4 T A 17: 27,657,412 (GRCm39) probably benign Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Kcnj9 G A 1: 172,153,488 (GRCm39) S212F probably damaging Het
Kif15 C A 9: 122,788,993 (GRCm39) H62N probably benign Het
Kptn A G 7: 15,854,647 (GRCm39) D106G probably damaging Het
Krtap13-1 T A 16: 88,526,192 (GRCm39) S139T probably damaging Het
Lepr C A 4: 101,622,131 (GRCm39) N354K probably benign Het
Lypd3 G T 7: 24,337,969 (GRCm39) E112* probably null Het
Med13l A T 5: 118,886,749 (GRCm39) N1550I probably damaging Het
Mettl2 C T 11: 105,017,670 (GRCm39) P60L probably benign Het
Mtcl2 G T 2: 156,902,182 (GRCm39) R278S probably damaging Het
Muc4 A G 16: 32,590,201 (GRCm39) E850G probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Nek1 A G 8: 61,542,626 (GRCm39) R739G probably damaging Het
Nipbl A T 15: 8,381,039 (GRCm39) D584E probably benign Het
Nkain3 C T 4: 20,158,388 (GRCm39) V162M possibly damaging Het
Nmrk1 T C 19: 18,618,844 (GRCm39) probably benign Het
Nsd2 T C 5: 34,018,372 (GRCm39) probably benign Het
Or2n1b T C 17: 38,459,515 (GRCm39) F12S probably damaging Het
Or4b1 T A 2: 89,979,627 (GRCm39) H241L probably damaging Het
Or4p23 A T 2: 88,576,352 (GRCm39) N293K probably benign Het
Or5b24 T A 19: 12,912,969 (GRCm39) V289D probably damaging Het
Or8b44 T A 9: 38,410,418 (GRCm39) M151K possibly damaging Het
Otulinl A T 15: 27,657,033 (GRCm39) I338N probably damaging Het
Phex T A X: 156,155,557 (GRCm39) probably benign Het
Pip5k1b G T 19: 24,356,256 (GRCm39) D227E probably damaging Het
Prdm13 A G 4: 21,683,914 (GRCm39) I119T unknown Het
Rab19 G T 6: 39,360,893 (GRCm39) V14L probably benign Het
Rasa3 A G 8: 13,630,118 (GRCm39) probably benign Het
Rgsl1 C T 1: 153,678,074 (GRCm39) S118N probably damaging Het
Rif1 C T 2: 52,000,365 (GRCm39) T1273M possibly damaging Het
Scn8a A G 15: 100,870,711 (GRCm39) N254S probably damaging Het
Sema6a T C 18: 47,425,048 (GRCm39) T188A probably damaging Het
Sh3pxd2a C T 19: 47,257,201 (GRCm39) E506K probably damaging Het
Smarca2 A T 19: 26,675,803 (GRCm39) K1014N probably damaging Het
Smarca4 T G 9: 21,611,435 (GRCm39) probably null Het
Sntb1 T C 15: 55,539,752 (GRCm39) R361G probably benign Het
Stx5a T A 19: 8,732,275 (GRCm39) I208N probably damaging Het
Tas2r102 T A 6: 132,739,415 (GRCm39) W108R probably damaging Het
Tcl1 A G 12: 105,184,929 (GRCm39) Y94H probably damaging Het
Tenm3 T A 8: 48,689,629 (GRCm39) Y1986F probably damaging Het
Tet2 G A 3: 133,173,945 (GRCm39) P1439L probably benign Het
Tiam2 T C 17: 3,563,108 (GRCm39) probably benign Het
Ubap2l G A 3: 89,928,553 (GRCm39) T526M probably damaging Het
Ushbp1 T A 8: 71,841,391 (GRCm39) probably benign Het
Usp28 C T 9: 48,915,169 (GRCm39) R115C probably damaging Het
Vldlr A T 19: 27,215,786 (GRCm39) D261V probably damaging Het
Vmn2r5 C T 3: 64,411,186 (GRCm39) D461N probably benign Het
Vmn2r86 A T 10: 130,282,265 (GRCm39) F784I probably damaging Het
Zfp59 A T 7: 27,553,513 (GRCm39) I322F probably damaging Het
Zfp607a A T 7: 27,578,574 (GRCm39) H548L probably benign Het
Zfp626 G A 7: 27,518,048 (GRCm39) C343Y 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
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
R1698: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 2013-07-30