Mutagenetix > Incidental Mutation

Incidental Mutation 'R3916:Ugcg'

309730

Institutional Source

Beutler Lab

Gene Symbol

Ugcg

Ensembl Gene

ENSMUSG00000028381

Gene Name

UDP-glucose ceramide glucosyltransferase

Synonyms

Epcs21, Ugcgl, GlcT-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59189257-59222833 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59207798 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	G	2: 68,731,985	F319V	possibly damaging	Het
Acad12	A	G	5: 121,599,214	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935	E37G	probably benign	Het
Anks3	A	G	16: 4,947,279	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,189,443	V600D	probably benign	Het
Arhgef18	T	C	8: 3,454,197	F939L	probably benign	Het
Arhgef2	A	G	3: 88,633,033	N127S	probably damaging	Het
Arid1b	A	G	17: 5,342,653	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,603,075	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,935,652	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,228,181	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cant1	A	G	11: 118,408,746	V259A	probably damaging	Het
Ccdc89	A	G	7: 90,426,825	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cntnap4	C	G	8: 112,875,533	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611	Y567*	probably null	Het
Cyp4f18	A	T	8: 71,996,037	F256Y	probably benign	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Dopey1	G	A	9: 86,521,133	R1462H	probably damaging	Het
Dync1i2	A	G	2: 71,249,372	T377A	probably damaging	Het
F2	G	A	2: 91,625,488	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,430,734	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,978,557		probably null	Het
Gabarapl2	T	A	8: 111,952,396	F115L	probably benign	Het
Heatr3	T	G	8: 88,150,371		probably null	Het
Ifi204	T	G	1: 173,755,775	K292N	possibly damaging	Het
Itpkc	A	T	7: 27,228,303	I62N	probably benign	Het
Kcnab1	G	A	3: 65,304,164		probably null	Het
Krt88	G	A	15: 101,452,928		probably null	Het
Larp4	C	T	15: 99,990,403	T107I	probably benign	Het
Lmo7	T	C	14: 101,929,342		probably benign	Het
Lrrc37a	T	C	11: 103,455,518	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,583,035	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295	I575V	probably benign	Het
Myh7	C	A	14: 54,974,046	E1555D	probably damaging	Het
Nwd1	T	A	8: 72,667,811	C608*	probably null	Het
Obox3	C	A	7: 15,627,226	C38F	probably benign	Het
P4ha2	A	G	11: 54,126,248	D441G	probably benign	Het
Pcdhb14	A	T	18: 37,448,545	I235F	possibly damaging	Het
Rasgrf2	A	G	13: 92,030,788	V259A	probably damaging	Het
Scn1a	T	C	2: 66,277,613	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,051,244	D817E	probably damaging	Het
Sema3b	A	G	9: 107,600,458	F482S	probably damaging	Het
Slc35a5	G	C	16: 45,158,158		probably benign	Het
Slc6a3	A	G	13: 73,562,308	I346V	probably benign	Het
Slu7	G	T	11: 43,440,684		probably null	Het
Spns1	A	T	7: 126,371,539		probably null	Het
Supv3l1	T	C	10: 62,449,420	D89G	possibly damaging	Het
Taf1c	G	A	8: 119,600,505	R412W	probably damaging	Het
Tctn3	T	A	19: 40,607,649	T305S	possibly damaging	Het
Tekt1	A	G	11: 72,345,748	I296T	possibly damaging	Het
Tet2	T	C	3: 133,486,055	K873E	possibly damaging	Het
Thada	G	A	17: 84,441,782	A587V	possibly damaging	Het
Tmprss15	T	A	16: 78,985,996	N712Y	probably damaging	Het
Tnks	A	G	8: 34,853,361	S719P	probably damaging	Het
Tnrc6a	A	C	7: 123,181,384	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,283,734	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519	K221E	possibly damaging	Het
Uba5	A	T	9: 104,054,190	C227S	probably damaging	Het
Unc80	T	C	1: 66,677,495	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,478,910	G331R	probably benign	Het
Xirp2	G	T	2: 67,511,422	V1336F	probably benign	Het
Zbed5	T	C	5: 129,902,277	Y356H	possibly damaging	Het

Other mutations in Ugcg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01447:Ugcg	APN	4	59,213,865 (GRCm38)	missense	possibly damaging	0.94
IGL01768:Ugcg	APN	4	59,217,216 (GRCm38)	critical splice donor site	probably null
IGL02636:Ugcg	APN	4	59,207,763 (GRCm38)	missense	possibly damaging	0.73
IGL02672:Ugcg	APN	4	59,218,587 (GRCm38)	splice site	probably benign
IGL02798:Ugcg	APN	4	59,220,346 (GRCm38)	missense	probably damaging	1.00
congee	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
cream_o_wheat	UTSW	4	59,220,387 (GRCm38)	missense	possibly damaging	0.91
gruel	UTSW	4	59,189,690 (GRCm38)	missense	probably benign
Porridge	UTSW	4	59,219,530 (GRCm38)	missense	possibly damaging	0.86
slop	UTSW	4	59,211,883 (GRCm38)	missense	probably benign	0.16
wheatina	UTSW	4	59,220,272 (GRCm38)	missense	probably damaging	0.96
PIT4382001:Ugcg	UTSW	4	59,213,246 (GRCm38)	missense	possibly damaging	0.68
R0013:Ugcg	UTSW	4	59,213,931 (GRCm38)	missense	possibly damaging	0.82
R0013:Ugcg	UTSW	4	59,213,931 (GRCm38)	missense	possibly damaging	0.82
R0068:Ugcg	UTSW	4	59,217,130 (GRCm38)	missense	probably benign	0.16
R0068:Ugcg	UTSW	4	59,217,130 (GRCm38)	missense	probably benign	0.16
R0119:Ugcg	UTSW	4	59,217,036 (GRCm38)	missense	possibly damaging	0.85
R0230:Ugcg	UTSW	4	59,189,739 (GRCm38)	nonsense	probably null
R0299:Ugcg	UTSW	4	59,217,036 (GRCm38)	missense	possibly damaging	0.85
R0384:Ugcg	UTSW	4	59,220,387 (GRCm38)	missense	possibly damaging	0.91
R0499:Ugcg	UTSW	4	59,217,036 (GRCm38)	missense	possibly damaging	0.85
R0645:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R0688:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R0726:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R0802:Ugcg	UTSW	4	59,189,685 (GRCm38)	missense	probably benign	0.00
R0803:Ugcg	UTSW	4	59,189,685 (GRCm38)	missense	probably benign	0.00
R0811:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R0812:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R0828:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R0831:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R0944:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R0945:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R0947:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R1104:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R1209:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R1210:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R1252:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R1253:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R1255:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R1488:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R1490:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R1548:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R1698:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R1771:Ugcg	UTSW	4	59,207,775 (GRCm38)	missense	probably benign	0.05
R1776:Ugcg	UTSW	4	59,207,775 (GRCm38)	missense	probably benign	0.05
R1781:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R1794:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R1840:Ugcg	UTSW	4	59,219,517 (GRCm38)	missense	probably damaging	1.00
R1942:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R2228:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R2229:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R2237:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R2239:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R2314:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R2337:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R2338:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R2340:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R2422:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R2426:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R2433:Ugcg	UTSW	4	59,207,876 (GRCm38)	missense	possibly damaging	0.89
R2680:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R3076:Ugcg	UTSW	4	59,213,922 (GRCm38)	missense	probably damaging	1.00
R3078:Ugcg	UTSW	4	59,213,922 (GRCm38)	missense	probably damaging	1.00
R3689:Ugcg	UTSW	4	59,211,883 (GRCm38)	missense	probably benign	0.16
R3732:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R3732:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R3733:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R3766:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R3767:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R3768:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R3769:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R3771:Ugcg	UTSW	4	59,189,690 (GRCm38)	missense	probably benign
R3847:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R3848:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R3917:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R3958:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R3959:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R4023:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R4024:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R4025:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R4065:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R4066:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
R4427:Ugcg	UTSW	4	59,219,555 (GRCm38)	missense	probably benign	0.02
R5842:Ugcg	UTSW	4	59,219,545 (GRCm38)	missense	possibly damaging	0.93
R6012:Ugcg	UTSW	4	59,220,272 (GRCm38)	missense	probably damaging	0.96
R6080:Ugcg	UTSW	4	59,218,524 (GRCm38)	missense	possibly damaging	0.70
R6762:Ugcg	UTSW	4	59,219,530 (GRCm38)	missense	possibly damaging	0.86
R7194:Ugcg	UTSW	4	59,213,210 (GRCm38)	missense	probably damaging	0.99
R7286:Ugcg	UTSW	4	59,217,111 (GRCm38)	missense	possibly damaging	0.95
R7362:Ugcg	UTSW	4	59,217,109 (GRCm38)	missense	probably damaging	1.00
R7472:Ugcg	UTSW	4	59,217,156 (GRCm38)	missense	probably benign
R7638:Ugcg	UTSW	4	59,220,299 (GRCm38)	missense	probably benign	0.26
R7866:Ugcg	UTSW	4	59,211,927 (GRCm38)	missense	possibly damaging	0.71
R8170:Ugcg	UTSW	4	59,211,974 (GRCm38)	missense	possibly damaging	0.71
R8488:Ugcg	UTSW	4	59,213,896 (GRCm38)	missense	probably benign	0.00
R8793:Ugcg	UTSW	4	59,207,794 (GRCm38)	missense	probably benign	0.22
R9441:Ugcg	UTSW	4	59,207,843 (GRCm38)	missense	probably damaging	1.00
Y4336:Ugcg	UTSW	4	59,207,798 (GRCm38)	missense	probably benign	0.17
Y4337:Ugcg	UTSW	4	59,207,798 (GRCm38)	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

2015-04-17