Mutagenetix > Incidental Mutation

Incidental Mutation 'R2239:Ugcg'

240523

Institutional Source

Beutler Lab

Gene Symbol

Ugcg

Ensembl Gene

ENSMUSG00000028381

Gene Name

UDP-glucose ceramide glucosyltransferase

Synonyms

Epcs21, Ugcgl, GlcT-1

MMRRC Submission

040239-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2239 (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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

94% (68/72)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 25,136,303 (GRCm39)	E406G	probably benign	Het
Ago3	G	A	4: 126,262,315 (GRCm39)	R412C	probably damaging	Het
Arhgap36	G	T	X: 48,582,282 (GRCm39)	V60L	possibly damaging	Het
Arl10	G	T	13: 54,722,962 (GRCm39)	V19L	probably benign	Het
Aspm	T	A	1: 139,384,584 (GRCm39)	I127K	possibly damaging	Het
Atp8b3	A	G	10: 80,366,822 (GRCm39)	C259R	probably damaging	Het
Camk2g	A	G	14: 20,789,455 (GRCm39)	I205T	probably damaging	Het
Ccdc47	G	T	11: 106,092,960 (GRCm39)	N100K	possibly damaging	Het
Cd200r4	T	A	16: 44,641,260 (GRCm39)	M1K	probably null	Het
Cdc37	G	A	9: 21,053,829 (GRCm39)	Q176*	probably null	Het
Cdh5	C	A	8: 104,852,304 (GRCm39)	H140N	possibly damaging	Het
Cep128	T	C	12: 91,314,341 (GRCm39)	T146A	probably benign	Het
Cnnm4	T	A	1: 36,544,759 (GRCm39)	S673T	probably benign	Het
Cnot1	T	C	8: 96,496,149 (GRCm39)	I342V	probably benign	Het
Cog8	C	A	8: 107,782,993 (GRCm39)	G99W	probably damaging	Het
Dars2	T	C	1: 160,890,852 (GRCm39)	T120A	possibly damaging	Het
Dnah7b	C	A	1: 46,240,344 (GRCm39)		probably benign	Het
Emilin2	T	A	17: 71,617,219 (GRCm39)	Q64L	probably benign	Het
Eomes	A	G	9: 118,311,359 (GRCm39)	D394G	probably damaging	Het
Epn1	A	G	7: 5,100,601 (GRCm39)	N518S	probably damaging	Het
Exoc1	T	C	5: 76,707,557 (GRCm39)		probably benign	Het
Fam186a	C	T	15: 99,852,745 (GRCm39)	V158M	unknown	Het
Fryl	A	G	5: 73,265,890 (GRCm39)	L477P	probably damaging	Het
Gbf1	T	C	19: 46,152,057 (GRCm39)	I30T	probably benign	Het
Hsd17b1	A	T	11: 100,969,289 (GRCm39)	I8F	probably damaging	Het
Htatsf1	G	T	X: 56,111,864 (GRCm39)	D642Y	unknown	Het
Ift88	A	G	14: 57,692,961 (GRCm39)	I387V	probably damaging	Het
Kcnh5	T	A	12: 75,054,493 (GRCm39)	M484L	probably benign	Het
Kdm1b	T	A	13: 47,227,231 (GRCm39)	F574L	probably damaging	Het
Kdm6a	T	C	X: 18,065,476 (GRCm39)	F104S	probably damaging	Het
Kntc1	T	C	5: 123,941,733 (GRCm39)	V1809A	possibly damaging	Het
Lgr4	T	C	2: 109,842,738 (GRCm39)	Y908H	probably damaging	Het
Ltbp3	C	A	19: 5,801,551 (GRCm39)	C698*	probably null	Het
Map3k1	A	C	13: 111,885,478 (GRCm39)	S1480A	probably benign	Het
Map7	A	T	10: 20,154,028 (GRCm39)	N715Y	unknown	Het
Morn4	A	G	19: 42,066,471 (GRCm39)	Y39H	possibly damaging	Het
Myh14	A	T	7: 44,314,607 (GRCm39)	D105E	probably damaging	Het
Nfasc	T	C	1: 132,510,760 (GRCm39)		probably benign	Het
Nfe2l2	G	A	2: 75,506,898 (GRCm39)	P401S	probably benign	Het
Nt5c1b	C	A	12: 10,425,558 (GRCm39)	T309K	probably damaging	Het
Or10v5	T	C	19: 11,805,814 (GRCm39)	D192G	probably damaging	Het
Or2aa1	A	G	11: 59,480,097 (GRCm39)	S273P	possibly damaging	Het
Or5ac23	T	A	16: 59,149,738 (GRCm39)	I45F	probably damaging	Het
Or5b109	T	C	19: 13,212,085 (GRCm39)	V157A	probably benign	Het
Or5l13	T	C	2: 87,779,741 (GRCm39)	T279A	probably damaging	Het
P4hb	A	G	11: 120,454,108 (GRCm39)	Y329H	probably damaging	Het
Papolg	A	G	11: 23,826,378 (GRCm39)	Y259H	probably damaging	Het
Pcgf5	A	T	19: 36,414,754 (GRCm39)	N105I	probably damaging	Het
Pde4a	G	A	9: 21,122,564 (GRCm39)	C820Y	probably damaging	Het
Phka2	A	G	X: 159,324,408 (GRCm39)	E254G	probably damaging	Het
Phrf1	A	G	7: 140,817,605 (GRCm39)	E138G	probably damaging	Het
Rgs3	A	T	4: 62,544,124 (GRCm39)	T299S	probably benign	Het
Skint5	G	A	4: 113,403,733 (GRCm39)	T1163I	unknown	Het
Slc16a8	T	C	15: 79,137,147 (GRCm39)	M88V	probably damaging	Het
Slc35f4	A	G	14: 49,543,660 (GRCm39)		probably null	Het
Smr2l	T	G	5: 88,430,413 (GRCm39)	M103R	probably benign	Het
Spata4	A	C	8: 55,055,664 (GRCm39)	K185T	probably benign	Het
Spin2c	A	G	X: 152,616,672 (GRCm39)	I162V	probably damaging	Het
Stac	G	A	9: 111,519,190 (GRCm39)		probably benign	Het
Tet1	T	C	10: 62,715,513 (GRCm39)	D94G	probably benign	Het
Tnfsf11	A	T	14: 78,537,421 (GRCm39)	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,600,212 (GRCm39)	T984I	probably benign	Het
Trmt5	A	G	12: 73,331,888 (GRCm39)	I4T	probably benign	Het
Ttc7b	A	G	12: 100,321,260 (GRCm39)		probably null	Het
Ush2a	C	A	1: 188,308,411 (GRCm39)	T2020K	probably benign	Het
Zan	G	A	5: 137,456,099 (GRCm39)	Q1354*	probably null	Het
Zpld2	A	C	4: 133,929,516 (GRCm39)	M263R	unknown	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
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

2014-10-15