Mutagenetix > Incidental Mutation

Incidental Mutation 'R2314:Ugcg'

245403

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 #

R2314 (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: 98.6%
10x: 97.3%
20x: 95.0%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	G	9: 4,309,322 (GRCm39)	S39P	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Anxa6	T	A	11: 54,902,561 (GRCm39)	I58F	probably damaging	Het
Ccdc30	T	A	4: 119,181,763 (GRCm39)	K582*	probably null	Het
Cebpz	A	G	17: 79,227,976 (GRCm39)		probably null	Het
Clstn3	T	A	6: 124,427,676 (GRCm39)	D473V	probably benign	Het
Cry1	A	T	10: 84,969,175 (GRCm39)	C550S	probably benign	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dolk	G	T	2: 30,175,497 (GRCm39)	L183M	probably damaging	Het
Dpys	T	C	15: 39,691,486 (GRCm39)	T279A	possibly damaging	Het
Drd4	T	C	7: 140,873,854 (GRCm39)	Y140H	probably damaging	Het
Duox1	C	A	2: 122,164,211 (GRCm39)	C890*	probably null	Het
Epha2	T	A	4: 141,046,325 (GRCm39)	V508E	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fahd1	A	T	17: 25,068,570 (GRCm39)	I169N	probably damaging	Het
Fgfr1	C	T	8: 26,060,909 (GRCm39)	S527F	probably damaging	Het
Flywch1	A	G	17: 23,982,000 (GRCm39)	V68A	probably benign	Het
Gm21834	A	T	17: 58,049,210 (GRCm39)	V2E	possibly damaging	Het
Gm7853	A	T	14: 35,811,621 (GRCm39)		noncoding transcript	Het
Igf2r	T	A	17: 12,934,830 (GRCm39)	H713L	probably benign	Het
Iqgap3	T	C	3: 88,023,338 (GRCm39)	V543A	probably benign	Het
Kcnq5	T	A	1: 21,549,595 (GRCm39)		probably null	Het
Lsm1	C	T	8: 26,275,712 (GRCm39)	P5S	possibly damaging	Het
Marchf1	T	C	8: 66,574,442 (GRCm39)	M1T	probably null	Het
Myocd	T	C	11: 65,091,633 (GRCm39)	H103R	probably damaging	Het
Myom2	C	T	8: 15,113,927 (GRCm39)	T25I	probably damaging	Het
Nck1	T	C	9: 100,380,003 (GRCm39)	K83E	probably damaging	Het
Nid2	A	G	14: 19,839,829 (GRCm39)	D806G	probably benign	Het
Onecut2	G	T	18: 64,474,268 (GRCm39)	R254L	probably damaging	Het
Or51k1	T	A	7: 103,661,436 (GRCm39)	M158L	probably benign	Het
Plxna1	A	C	6: 89,301,298 (GRCm39)	L1534R	probably damaging	Het
Polb	C	A	8: 23,130,018 (GRCm39)	A185S	possibly damaging	Het
Pou3f3	T	C	1: 42,737,651 (GRCm39)	V449A	probably damaging	Het
Pskh1	C	T	8: 106,640,145 (GRCm39)	T275I	probably damaging	Het
Rab18	C	A	18: 6,788,516 (GRCm39)	A161D	probably damaging	Het
Rrp8	T	C	7: 105,384,011 (GRCm39)	R164G	probably benign	Het
Sacs	T	A	14: 61,445,208 (GRCm39)	I2418K	probably benign	Het
Scrn1	T	C	6: 54,502,631 (GRCm39)	E136G	probably benign	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Slitrk6	C	T	14: 110,989,387 (GRCm39)	A107T	probably damaging	Het
Spata31e2	T	C	1: 26,723,783 (GRCm39)	S466G	probably benign	Het
Tktl2	T	A	8: 66,965,795 (GRCm39)	F451Y	probably damaging	Het
Tnks1bp1	G	A	2: 84,889,259 (GRCm39)	V529M	probably benign	Het
Trps1	T	C	15: 50,524,742 (GRCm39)	K874E	probably damaging	Het
Ttll9	T	A	2: 152,825,047 (GRCm39)	D75E	probably benign	Het
Ttn	A	G	2: 76,596,368 (GRCm39)	Y20182H	probably damaging	Het
Ufc1	A	T	1: 171,116,821 (GRCm39)	C116S	probably damaging	Het
Zfp809	A	G	9: 22,149,976 (GRCm39)	K158E	possibly damaging	Het
Zfp81	A	G	17: 33,553,597 (GRCm39)	Y406H	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
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

2014-10-30