Incidental Mutation 'R0013:Ugcg'
ID 32620
Institutional Source Beutler Lab
Gene Symbol Ugcg
Ensembl Gene ENSMUSG00000028381
Gene Name UDP-glucose ceramide glucosyltransferase
Synonyms Epcs21, Ugcgl, GlcT-1
MMRRC Submission 038308-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0013 (G1)
Quality Score 191
Status Not validated
Chromosome 4
Chromosomal Location 59189452-59222833 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59213931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 171 (L171P)
Ref Sequence ENSEMBL: ENSMUSP00000030074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030074]
AlphaFold O88693
Predicted Effect possibly damaging
Transcript: ENSMUST00000030074
AA Change: L171P

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030074
Gene: ENSMUSG00000028381
AA Change: L171P

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 0.8669 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.8%
Validation Efficiency 94% (79/84)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A G 10: 76,293,346 (GRCm39) M156V probably benign Het
Adnp2 A T 18: 80,172,960 (GRCm39) V483D probably damaging Het
Aff1 G T 5: 103,976,350 (GRCm39) E491* probably null Het
Agl A T 3: 116,570,257 (GRCm39) C911* probably null Het
Akt2 A G 7: 27,335,483 (GRCm39) D284G probably damaging Het
Alox15 A G 11: 70,240,461 (GRCm39) M240T possibly damaging Het
Antxr2 A G 5: 98,127,844 (GRCm39) V229A probably damaging Het
Arap2 G A 5: 62,840,827 (GRCm39) L680F probably damaging Het
Btaf1 A G 19: 36,935,773 (GRCm39) T188A probably benign Het
Btnl6 G A 17: 34,734,505 (GRCm39) Q86* probably null Het
C2cd3 T A 7: 100,065,269 (GRCm39) L685H probably damaging Het
Cdh23 T C 10: 60,248,952 (GRCm39) T878A possibly damaging Het
Clec4b2 T C 6: 123,179,108 (GRCm39) Y137H probably damaging Het
Dchs1 T A 7: 105,405,043 (GRCm39) T2500S possibly damaging Het
Def6 A G 17: 28,436,066 (GRCm39) Y75C probably damaging Het
Dhx33 A T 11: 70,884,461 (GRCm39) F448L probably damaging Het
Dner C T 1: 84,472,614 (GRCm39) probably benign Het
Dnmbp G A 19: 43,890,670 (GRCm39) P366S probably benign Het
Eif4g3 T C 4: 137,903,159 (GRCm39) C1160R possibly damaging Het
Elmod1 G A 9: 53,820,185 (GRCm39) probably benign Het
Faah C A 4: 115,861,588 (GRCm39) L305F probably damaging Het
Flt1 A G 5: 147,507,824 (GRCm39) probably benign Het
Fyco1 A T 9: 123,651,471 (GRCm39) N1196K probably benign Het
Galnt18 T C 7: 111,153,664 (GRCm39) N320S probably damaging Het
Garin3 A G 11: 46,297,631 (GRCm39) T312A unknown Het
Glp2r C A 11: 67,600,538 (GRCm39) G437V possibly damaging Het
Gm4884 T C 7: 40,693,716 (GRCm39) S562P probably damaging Het
Gm9936 A G 5: 114,995,408 (GRCm39) probably benign Het
Gpn2 C A 4: 133,312,103 (GRCm39) P112T probably damaging Het
Grm4 A G 17: 27,650,549 (GRCm39) Y816H probably benign Het
Helz2 A T 2: 180,882,752 (GRCm39) S14T probably benign Het
Htt T C 5: 34,977,448 (GRCm39) L778P probably benign Het
Il11ra1 T C 4: 41,765,060 (GRCm39) S129P probably damaging Het
Ints11 T C 4: 155,971,625 (GRCm39) F315S probably damaging Het
Itga11 A T 9: 62,683,895 (GRCm39) N1059Y possibly damaging Het
Jak3 A G 8: 72,136,971 (GRCm39) S716G probably damaging Het
Kcns1 G T 2: 164,010,563 (GRCm39) D65E probably benign Het
Kdm5d A T Y: 941,715 (GRCm39) K1305N probably benign Het
Kif26a G T 12: 112,144,314 (GRCm39) V1523L probably benign Het
Mboat7 A G 7: 3,686,821 (GRCm39) S340P probably damaging Het
Mctp2 T C 7: 71,879,156 (GRCm39) I234V probably benign Het
Mex3c G A 18: 73,723,622 (GRCm39) A572T probably benign Het
Mpp3 C A 11: 101,896,251 (GRCm39) R424L probably benign Het
Mroh4 T A 15: 74,480,086 (GRCm39) probably benign Het
Myo9a A T 9: 59,767,489 (GRCm39) probably benign Het
Myog T A 1: 134,217,973 (GRCm39) H60Q probably damaging Het
Nlrp9a T A 7: 26,270,650 (GRCm39) probably null Het
Notch1 A G 2: 26,363,830 (GRCm39) V868A possibly damaging Het
Or10g9b A T 9: 39,917,651 (GRCm39) I198N probably damaging Het
Or1j20 A G 2: 36,760,172 (GRCm39) N198S probably damaging Het
Or1p1 T A 11: 74,179,877 (GRCm39) I135N possibly damaging Het
Or5d18 T C 2: 87,864,610 (GRCm39) Y291C possibly damaging Het
Pink1 T C 4: 138,044,712 (GRCm39) T342A probably benign Het
Plb1 T A 5: 32,506,959 (GRCm39) probably benign Het
Plec T C 15: 76,062,446 (GRCm39) D2524G probably damaging Het
Plekhg4 G T 8: 106,102,028 (GRCm39) E6* probably null Het
Polq T C 16: 36,882,201 (GRCm39) F1455S possibly damaging Het
Ppm1e A G 11: 87,139,884 (GRCm39) probably benign Het
Prkaca G A 8: 84,714,932 (GRCm39) M119I possibly damaging Het
Prss46 G T 9: 110,679,123 (GRCm39) S108I probably damaging Het
Ptma C T 1: 86,457,498 (GRCm39) probably benign Het
Rab11fip4 C T 11: 79,580,479 (GRCm39) T437M probably benign Het
Rngtt T A 4: 33,379,409 (GRCm39) M437K probably benign Het
Rrn3 T A 16: 13,630,977 (GRCm39) D604E possibly damaging Het
Scn4a A G 11: 106,239,231 (GRCm39) probably benign Het
Sis A G 3: 72,817,809 (GRCm39) L1468P possibly damaging Het
Slit3 A G 11: 35,598,745 (GRCm39) M1450V probably benign Het
Smg5 T C 3: 88,256,540 (GRCm39) S269P probably benign Het
Sntg1 T C 1: 8,533,686 (GRCm39) T323A probably damaging Het
Son C T 16: 91,448,550 (GRCm39) T37I probably damaging Het
Stk17b T C 1: 53,803,291 (GRCm39) I41M probably benign Het
Tgm5 T A 2: 120,907,363 (GRCm39) Y120F probably damaging Het
Tppp A G 13: 74,169,479 (GRCm39) K73R possibly damaging Het
Ttn C A 2: 76,569,502 (GRCm39) K27130N probably damaging Het
Ttn C T 2: 76,738,096 (GRCm39) V4148I probably benign Het
Tut4 T A 4: 108,388,152 (GRCm39) probably benign Het
Uba7 A T 9: 107,855,448 (GRCm39) Y375F probably damaging Het
Vsig2 T C 9: 37,453,872 (GRCm39) probably benign Het
Zfp839 T A 12: 110,834,820 (GRCm39) S692T possibly 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
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
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'- AGTGATAGCCACTGTCTGCTCTGC -3'
(R):5'- TGACCCCAAGGACCTGAGAACTTC -3'

Sequencing Primer
(F):5'- CTCTCCTGGGCTAAAAATGTGTAG -3'
(R):5'- TAGGCACAATGGTGCTCTCA -3'
Posted On 2013-05-09