Mutagenetix > Incidental Mutation

Incidental Mutation 'R3768:Ugcg'

273100

Institutional Source

Beutler Lab

Gene Symbol

Ugcg

Ensembl Gene

ENSMUSG00000028381

Gene Name

UDP-glucose ceramide glucosyltransferase

Synonyms

Epcs21, Ugcgl, GlcT-1

MMRRC Submission

040745-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3768 (G1)

Quality Score

225

Status

Not validated

Chromosome

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

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: 98.5%
10x: 97.1%
20x: 94.5%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,204,217 (GRCm39)	R353G	probably benign	Het
Ank1	A	G	8: 23,606,202 (GRCm39)	D1153G	possibly damaging	Het
Ankrd12	T	C	17: 66,292,715 (GRCm39)	Y906C	probably benign	Het
Apol9a	G	C	15: 77,288,596 (GRCm39)	T257S	probably benign	Het
Arhgap23	A	T	11: 97,366,932 (GRCm39)	D1071V	probably damaging	Het
Arid4a	A	G	12: 71,113,893 (GRCm39)	K160R	probably damaging	Het
Atp8a2	T	A	14: 60,281,785 (GRCm39)	H142L	probably benign	Het
B3gnt2	T	C	11: 22,786,765 (GRCm39)	K141R	probably damaging	Het
Btbd7	G	A	12: 102,761,451 (GRCm39)	P578L	probably damaging	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cmya5	A	T	13: 93,233,201 (GRCm39)	I629K	possibly damaging	Het
Cnga4	A	G	7: 105,056,887 (GRCm39)	N330S	probably damaging	Het
Cplx4	T	C	18: 66,102,998 (GRCm39)	T41A	probably benign	Het
Cxcl15	A	C	5: 90,949,303 (GRCm39)	D156A	unknown	Het
D630045J12Rik	A	G	6: 38,119,844 (GRCm39)	S1633P	probably damaging	Het
Dock10	T	A	1: 80,510,085 (GRCm39)	N1581I	probably damaging	Het
Dock7	T	C	4: 98,859,066 (GRCm39)	T1409A	probably benign	Het
Dscaml1	T	A	9: 45,643,435 (GRCm39)	F1285I	possibly damaging	Het
Fgf10	G	T	13: 118,918,083 (GRCm39)	V124F	probably damaging	Het
Ifna7	T	C	4: 88,734,964 (GRCm39)	V167A	probably damaging	Het
Kctd19	T	C	8: 106,123,112 (GRCm39)	T101A	probably benign	Het
Klf3	A	G	5: 64,984,560 (GRCm39)		probably null	Het
Krtap12-1	G	T	10: 77,556,729 (GRCm39)	V91L	probably benign	Het
Lrp2	C	T	2: 69,335,449 (GRCm39)	D1425N	probably benign	Het
Mgl2	T	C	11: 70,026,659 (GRCm39)	L128P	probably damaging	Het
Mypn	C	A	10: 62,961,486 (GRCm39)	L1035F	possibly damaging	Het
Ncor2	A	G	5: 125,105,751 (GRCm39)	V1613A	probably damaging	Het
Nlgn2	C	T	11: 69,719,230 (GRCm39)	V207I	possibly damaging	Het
Or10v1	G	A	19: 11,873,676 (GRCm39)	G97D	probably damaging	Het
Or1ad6	A	G	11: 50,860,385 (GRCm39)	D180G	probably damaging	Het
Or2y14	T	C	11: 49,404,600 (GRCm39)	I45T	probably damaging	Het
Or4d10c	A	G	19: 12,065,304 (GRCm39)	I284T	probably damaging	Het
Osbpl3	G	A	6: 50,324,982 (GRCm39)	P172L	possibly damaging	Het
Pabpc4	T	A	4: 123,188,405 (GRCm39)	V338D	probably damaging	Het
Pdia6	T	C	12: 17,320,457 (GRCm39)	V32A	probably damaging	Het
Pik3c3	T	A	18: 30,466,326 (GRCm39)	S792R	probably damaging	Het
Pla2g5	C	G	4: 138,528,746 (GRCm39)	C70S	probably damaging	Het
Pole4	G	A	6: 82,599,095 (GRCm39)	R119C	possibly damaging	Het
Ppm1h	G	T	10: 122,740,027 (GRCm39)	L367F	probably damaging	Het
Ptpru	C	T	4: 131,535,735 (GRCm39)	C414Y	probably damaging	Het
Rhot2	T	C	17: 26,059,521 (GRCm39)	D407G	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sap25	T	A	5: 137,640,632 (GRCm39)	F171I	probably damaging	Het
Serpinb11	T	C	1: 107,305,392 (GRCm39)		probably null	Het
Tarm1	A	T	7: 3,546,097 (GRCm39)	S69T	probably benign	Het
Usp36	T	C	11: 118,153,878 (GRCm39)	K846R	probably damaging	Het
Zfp229	A	T	17: 21,964,844 (GRCm39)	H358L	probably damaging	Het
Zfp747l1	A	G	7: 126,984,035 (GRCm39)		probably benign	Het

Other mutations in Ugcg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

2015-03-25