Mutagenetix > Incidental Mutation

Incidental Mutation 'R7194:Ugcg'

559771

Institutional Source

Beutler Lab

Gene Symbol

Ugcg

Ensembl Gene

ENSMUSG00000028381

Gene Name

UDP-glucose ceramide glucosyltransferase

Synonyms

Epcs21, Ugcgl, GlcT-1

MMRRC Submission

045335-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59189452-59222833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59213210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 132 (Y132C)

Ref Sequence

ENSEMBL: ENSMUSP00000030074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030074]

AlphaFold

O88693

Predicted Effect

probably damaging
Transcript: ENSMUST00000030074
AA Change: Y132C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030074
Gene: ENSMUSG00000028381
AA Change: Y132C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	A	G	8: 60,979,656 (GRCm39)	I173V	probably benign	Het
Abi3bp	C	T	16: 56,382,734 (GRCm39)	R115C	probably damaging	Het
Adam18	A	G	8: 25,141,868 (GRCm39)	S234P	possibly damaging	Het
Adam20	A	G	8: 41,249,449 (GRCm39)	R520G	probably benign	Het
Angel2	C	G	1: 190,677,194 (GRCm39)	T514R	probably damaging	Het
Ankar	A	T	1: 72,698,192 (GRCm39)	I954N	probably benign	Het
Ankrd7	A	T	6: 18,879,342 (GRCm39)	Y262F	probably benign	Het
Ano8	C	A	8: 71,935,007 (GRCm39)	L398F	possibly damaging	Het
App	C	T	16: 84,822,319 (GRCm39)	V356I	probably benign	Het
Atp1a2	C	A	1: 172,108,194 (GRCm39)	E636*	probably null	Het
Cckbr	G	A	7: 105,084,552 (GRCm39)	E429K	possibly damaging	Het
Cfi	T	G	3: 129,648,708 (GRCm39)	S197R	probably damaging	Het
Chn2	A	G	6: 54,263,162 (GRCm39)		probably null	Het
Col3a1	C	A	1: 45,370,860 (GRCm39)	A405D	unknown	Het
Colec12	A	T	18: 9,848,248 (GRCm39)	N142I	probably benign	Het
Copa	T	C	1: 171,947,511 (GRCm39)	L1109P	probably damaging	Het
Cpeb3	T	A	19: 37,152,152 (GRCm39)	M75L	probably benign	Het
Cyp2d11	T	C	15: 82,275,969 (GRCm39)	Y204C	probably benign	Het
Defa17	A	G	8: 22,146,613 (GRCm39)	T80A	probably benign	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dppa5a	C	T	9: 78,275,002 (GRCm39)		probably null	Het
Fat4	G	T	3: 38,943,033 (GRCm39)	S642I	probably damaging	Het
Fat4	T	A	3: 39,038,044 (GRCm39)	C3899S	probably damaging	Het
Fn1	A	G	1: 71,641,482 (GRCm39)	V1869A	probably damaging	Het
Gm10308	A	T	17: 91,396,389 (GRCm39)	I104L	unknown	Het
Gpr139	C	T	7: 118,743,896 (GRCm39)	A230T	possibly damaging	Het
Grm8	T	C	6: 27,618,486 (GRCm39)	N452S	probably benign	Het
Hmox1	T	C	8: 75,823,551 (GRCm39)	V73A	probably benign	Het
Hspa4	A	G	11: 53,156,765 (GRCm39)	F641L	probably damaging	Het
Ifi207	T	G	1: 173,557,490 (GRCm39)	H416P	possibly damaging	Het
Igkv10-96	G	T	6: 68,609,028 (GRCm39)	T89K	possibly damaging	Het
Kmt2d	A	C	15: 98,741,714 (GRCm39)	V4482G	unknown	Het
Krt28	T	A	11: 99,265,230 (GRCm39)	K146*	probably null	Het
Krt82	T	C	15: 101,451,191 (GRCm39)	N406S	probably damaging	Het
Marveld3	A	T	8: 110,686,477 (GRCm39)		probably null	Het
Mllt6	C	T	11: 97,564,394 (GRCm39)	S370L	probably benign	Het
Muc16	A	G	9: 18,585,750 (GRCm39)	L26S	unknown	Het
Mup12	T	A	4: 60,696,734 (GRCm39)	E48V	probably benign	Het
Myh1	G	A	11: 67,102,183 (GRCm39)	V825I	probably benign	Het
Nipal3	G	A	4: 135,201,732 (GRCm39)	T152I	probably benign	Het
Nrg3	A	T	14: 39,194,435 (GRCm39)	M108K	probably benign	Het
Nup50l	T	G	6: 96,141,756 (GRCm39)	E429D	probably benign	Het
Oog3	A	T	4: 143,889,169 (GRCm39)	I3N	probably damaging	Het
Or10d4c	G	A	9: 39,558,387 (GRCm39)	V122I	probably benign	Het
Pira13	A	G	7: 3,827,792 (GRCm39)	W122R		Het
Pkhd1l1	T	C	15: 44,392,512 (GRCm39)	C1616R	probably damaging	Het
Ppa2	T	A	3: 133,053,953 (GRCm39)		probably null	Het
Ppfibp2	T	A	7: 107,322,187 (GRCm39)		probably null	Het
Ppp4c	T	C	7: 126,385,653 (GRCm39)	N229D	probably damaging	Het
Ptpn9	T	C	9: 56,929,570 (GRCm39)	F96L	probably damaging	Het
Pygl	A	G	12: 70,241,094 (GRCm39)	V742A	probably benign	Het
Ranbp2	A	G	10: 58,312,591 (GRCm39)	T1104A	probably benign	Het
Rasal1	G	A	5: 120,813,557 (GRCm39)	A644T	probably benign	Het
Rcor3	T	A	1: 191,810,261 (GRCm39)	T139S	possibly damaging	Het
Rfx5	T	A	3: 94,862,454 (GRCm39)	I37N	probably damaging	Het
Rnf112	C	T	11: 61,341,683 (GRCm39)	G374R	probably damaging	Het
Rrp12	T	C	19: 41,859,979 (GRCm39)	I1034V	probably benign	Het
Sacs	T	A	14: 61,447,538 (GRCm39)	Y3195N	possibly damaging	Het
Scn4a	A	G	11: 106,215,062 (GRCm39)	I1243T	probably benign	Het
Sirt7	A	T	11: 120,509,799 (GRCm39)	C362S	probably benign	Het
Slc17a6	T	A	7: 51,276,640 (GRCm39)	S130T	probably damaging	Het
Snrnp48	A	C	13: 38,393,875 (GRCm39)	Y60S	probably damaging	Het
Syne1	T	C	10: 5,060,859 (GRCm39)	E7260G	probably damaging	Het
Trbv15	C	T	6: 41,118,529 (GRCm39)	T95I	probably benign	Het
Trip12	A	T	1: 84,771,943 (GRCm39)	N68K	probably benign	Het
Usp9y	A	T	Y: 1,304,672 (GRCm39)	C2391S	probably damaging	Het
Vmn1r103	C	A	7: 20,244,438 (GRCm39)	V8L	probably benign	Het
Vmn2r15	T	A	5: 109,440,649 (GRCm39)	N403I	probably damaging	Het
Zbtb11	T	C	16: 55,827,551 (GRCm39)	S1006P	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
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
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'- GGTAACTTCAAAATGAGTCCTGTG -3'
(R):5'- GAGCAGACAGTGGCTATCAC -3'

Sequencing Primer
(F):5'- GTTTATGACATTATGTAGCATGATGC -3'
(R):5'- GCAAAGGTTTTAATACATGTACCATC -3'

Posted On

2019-06-26