Mutagenetix > Incidental Mutation

Incidental Mutation 'R3959:Ugcg'

310829

Institutional Source

Beutler Lab

Gene Symbol

Ugcg

Ensembl Gene

ENSMUSG00000028381

Gene Name

UDP-glucose ceramide glucosyltransferase

Synonyms

Epcs21, Ugcgl, GlcT-1

MMRRC Submission

040835-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3959 (G1)

Quality Score

225

Status

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: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

100% (37/37)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Adam26a	T	C	8: 44,022,908 (GRCm39)	H194R	probably benign	Het
Celf4	A	G	18: 25,670,811 (GRCm39)	M124T	probably benign	Het
Csmd3	A	T	15: 47,507,585 (GRCm39)	I2976K	probably benign	Het
Dnhd1	A	G	7: 105,362,329 (GRCm39)	H3730R	probably benign	Het
Dock8	G	A	19: 25,162,305 (GRCm39)		probably null	Het
Eed	C	T	7: 89,604,149 (GRCm39)	R441Q	probably benign	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Etl4	A	G	2: 20,344,854 (GRCm39)	T53A	probably benign	Het
Evc2	T	A	5: 37,573,120 (GRCm39)	V944E	possibly damaging	Het
Hmgcs2	T	C	3: 98,204,793 (GRCm39)	F317S	possibly damaging	Het
Itpr2	C	T	6: 146,327,008 (GRCm39)	V120I	probably damaging	Het
Itprid1	A	T	6: 55,874,725 (GRCm39)	Q225L	probably benign	Het
Mapk8	A	C	14: 33,104,210 (GRCm39)	M402R	probably null	Het
Mycbp2	T	C	14: 103,532,688 (GRCm39)	Y389C	probably benign	Het
Nceh1	T	C	3: 27,333,345 (GRCm39)	I147T	probably benign	Het
Nfatc3	C	T	8: 106,825,709 (GRCm39)	R587*	probably null	Het
Nin	A	T	12: 70,097,526 (GRCm39)	F516L	probably damaging	Het
Npm1	T	A	11: 33,104,012 (GRCm39)	N272Y	probably damaging	Het
Ntrk3	T	C	7: 77,848,590 (GRCm39)	E787G	probably damaging	Het
Or5t5	G	A	2: 86,616,340 (GRCm39)	V89I	probably benign	Het
Ppp1r21	A	G	17: 88,857,244 (GRCm39)	E189G	probably damaging	Het
Prrc2c	A	T	1: 162,536,461 (GRCm39)		probably benign	Het
Rrn3	T	C	16: 13,599,964 (GRCm39)		probably null	Het
Sec23ip	C	G	7: 128,378,574 (GRCm39)	T796S	probably benign	Het
Serpina3f	T	A	12: 104,183,399 (GRCm39)	I87N	probably damaging	Het
Slc22a27	G	A	19: 7,887,414 (GRCm39)	T188I	probably damaging	Het
Triobp	T	A	15: 78,886,589 (GRCm39)	C1930*	probably null	Het
Ucp3	A	G	7: 100,131,946 (GRCm39)	T266A	probably benign	Het
Vmn2r2	C	T	3: 64,047,947 (GRCm39)	M6I	probably benign	Het
Vmn2r72	A	T	7: 85,400,339 (GRCm39)	L237I	probably benign	Het
Zfp518a	A	C	19: 40,901,142 (GRCm39)	Q357P	probably damaging	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
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
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

2015-04-29