Mutagenetix > Incidental Mutation

Incidental Mutation 'R0671:Uggt1'

61414

Institutional Source

Beutler Lab

Gene Symbol

Uggt1

Ensembl Gene

ENSMUSG00000037470

Gene Name

UDP-glucose glycoprotein glucosyltransferase 1

Synonyms

Ugcgl1, C820010P03Rik, A930007H10Rik, 0910001L17Rik

MMRRC Submission

038856-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.491) question?

Stock #

R0671 (G1)

Quality Score

152

Status

Validated

Chromosome

Chromosomal Location

36140027-36244720 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36155128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1343 (L1343Q)

Ref Sequence

ENSEMBL: ENSMUSP00000037930 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046875] [ENSMUST00000174266]

AlphaFold

Q6P5E4

Predicted Effect

probably damaging
Transcript: ENSMUST00000046875
AA Change: L1343Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: L1343Q

Domain	Start	End	E-Value	Type
signal peptide	1	42	N/A	INTRINSIC
Pfam:UDP-g_GGTase	44	1222	N/A	PFAM
SCOP:d1ga8a_	1256	1521	3e-45	SMART
Blast:BROMO	1414	1453	3e-17	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173999

Predicted Effect

probably benign
Transcript: ENSMUST00000174266

SMART Domains

Protein: ENSMUSP00000134640
Gene: ENSMUSG00000037470

Domain	Start	End	E-Value	Type
signal peptide	1	42	N/A	INTRINSIC
low complexity region	88	97	N/A	INTRINSIC

Meta Mutation Damage Score

0.8365

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

99% (125/126)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]
PHENOTYPE: Heterozygous KO reduces susceptibility to and morbidity of RNA virus infection. Homozygous KO is embryonic lethal. The peptide is a folding sensor for glycoproteins in the ER. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	T	C	8: 84,003,008		probably benign	Het
4930430A15Rik	A	C	2: 111,204,137	V350G	possibly damaging	Het
A530064D06Rik	G	A	17: 48,166,656	T31I	probably benign	Het
Abca17	A	G	17: 24,281,249	F1323L	probably benign	Het
Abcf3	T	A	16: 20,550,487	N206K	probably damaging	Het
Adam10	A	G	9: 70,765,941		probably benign	Het
Adamtsl3	A	T	7: 82,523,182	Q451L	probably damaging	Het
Adgrl3	T	A	5: 81,560,905	I413N	probably benign	Het
Asb18	G	T	1: 89,993,171	A128E	probably damaging	Het
Atf7ip2	T	C	16: 10,241,879	S428P	possibly damaging	Het
Atp8b5	G	T	4: 43,291,672	C15F	possibly damaging	Het
Bahcc1	A	G	11: 120,287,320	E2235G	probably damaging	Het
Blnk	G	T	19: 40,937,667	S330*	probably null	Het
Bpnt1	T	G	1: 185,356,611	N319K	probably benign	Het
Brip1	G	A	11: 86,152,667	T357I	possibly damaging	Het
Cadm1	T	A	9: 47,813,806	D288E	probably benign	Het
Calcoco2	A	G	11: 96,107,528	V23A	probably damaging	Het
Cand2	G	A	6: 115,803,805	E1217K	probably damaging	Het
Ccdc154	G	T	17: 25,167,285		probably benign	Het
Cdk12	T	C	11: 98,230,109		probably benign	Het
Clec4a3	A	G	6: 122,954,034		probably null	Het
Cpne2	T	A	8: 94,548,342		probably benign	Het
Cyfip1	T	C	7: 55,923,962		probably null	Het
Cyp26c1	A	G	19: 37,686,561	H110R	probably damaging	Het
Cyp2j13	A	G	4: 96,071,695	Y75H	probably damaging	Het
Defb43	T	A	14: 63,011,838	V10D	probably damaging	Het
Dhx36	G	A	3: 62,493,741	S368L	possibly damaging	Het
Dock6	G	A	9: 21,804,627		probably benign	Het
Elp2	T	C	18: 24,612,442		probably benign	Het
Emilin3	A	G	2: 160,908,329	L453P	probably damaging	Het
Eml6	A	T	11: 29,805,065	D903E	probably benign	Het
Ep300	T	C	15: 81,616,134		probably benign	Het
Ep400	G	A	5: 110,688,196	T1899M	unknown	Het
Fancg	A	G	4: 43,002,998	S620P	probably benign	Het
Fbxo42	G	A	4: 141,195,239	V239M	probably damaging	Het
Fermt2	T	C	14: 45,469,319	D340G	probably benign	Het
Filip1	A	T	9: 79,819,390	V649E	probably damaging	Het
Fut8	G	A	12: 77,475,017	E477K	probably damaging	Het
Gbp3	G	A	3: 142,565,390	G185D	probably benign	Het
Gclc	G	T	9: 77,786,798	D345Y	probably damaging	Het
Gkn2	A	G	6: 87,375,818	D43G	possibly damaging	Het
Gm960	A	G	19: 4,626,188	S639P	probably damaging	Het
Gnptab	A	G	10: 88,443,304		probably benign	Het
Greb1l	C	T	18: 10,474,303	T206I	probably damaging	Het
Grk4	A	G	5: 34,748,267	N452S	probably benign	Het
Hcn2	G	C	10: 79,734,232		probably null	Het
Hpn	T	C	7: 31,109,160	K76E	possibly damaging	Het
Hspg2	A	G	4: 137,553,280	D3268G	probably damaging	Het
Immt	A	T	6: 71,871,557	Q467L	possibly damaging	Het
Kalrn	T	C	16: 34,116,408	S1636G	probably benign	Het
Kcnh8	T	A	17: 52,978,113	L1037*	probably null	Het
Klhl33	T	C	14: 50,892,394	T548A	probably damaging	Het
Klri2	T	C	6: 129,740,208	I71V	probably benign	Het
Kmt2c	A	T	5: 25,404,365	C254S	probably damaging	Het
Lama3	T	C	18: 12,477,590	I1170T	possibly damaging	Het
Med12l	A	G	3: 59,264,929	Q1702R	probably damaging	Het
Mga	A	T	2: 119,919,910		probably null	Het
Mis18a	A	T	16: 90,720,673	I172K	possibly damaging	Het
Mrgpre	T	C	7: 143,781,517	D83G	probably benign	Het
Mroh2a	C	A	1: 88,242,420	A685D	possibly damaging	Het
Mrpl39	T	C	16: 84,734,394		probably benign	Het
Mrrf	C	T	2: 36,153,698	A149V	probably benign	Het
Mycbp2	A	T	14: 103,194,588	M2338K	possibly damaging	Het
Myo18b	T	C	5: 112,692,766	Q2387R	probably benign	Het
N4bp2	T	C	5: 65,807,437	I943T	probably damaging	Het
Ncapd3	T	A	9: 27,087,477	N1254K	probably benign	Het
Ncoa1	A	T	12: 4,249,758		probably null	Het
Ncor2	C	T	5: 125,049,387	A136T	probably benign	Het
Olfr311	T	A	11: 58,841,855	I247N	possibly damaging	Het
Olfr483	C	A	7: 108,104,156	Y282*	probably null	Het
Olfr539	A	G	7: 140,667,677	D123G	probably damaging	Het
Olfr887	T	A	9: 38,085,127	M97K	possibly damaging	Het
Opa1	T	C	16: 29,602,207		probably benign	Het
Pcdhb4	T	C	18: 37,307,742	M35T	probably benign	Het
Per3	T	C	4: 151,028,831	I347V	probably benign	Het
Pex13	G	A	11: 23,665,831	P5L	possibly damaging	Het
Phkb	T	A	8: 85,875,693	W38R	probably damaging	Het
Plekhf1	A	T	7: 38,221,402	D247E	probably benign	Het
Plxnb2	A	G	15: 89,157,981	S1607P	probably benign	Het
Plxnc1	T	A	10: 94,799,332	H1344L	possibly damaging	Het
Ptk7	T	G	17: 46,590,312	N196H	possibly damaging	Het
Rab27a	G	T	9: 73,075,433	D7Y	probably damaging	Het
Rars2	T	A	4: 34,630,505	C82*	probably null	Het
Rccd1	A	T	7: 80,320,217		probably benign	Het
Riiad1	T	C	3: 94,472,239	I56V	possibly damaging	Het
Rnase4	A	G	14: 51,105,050	E77G	probably damaging	Het
Rnf126	A	T	10: 79,761,607	I157N	possibly damaging	Het
Rnf207	T	C	4: 152,307,468	R623G	probably benign	Het
Rpusd1	T	G	17: 25,728,524	F62V	possibly damaging	Het
Rxfp1	T	C	3: 79,663,293		probably null	Het
Scfd1	A	T	12: 51,412,628	Q324L	probably benign	Het
Skint3	G	T	4: 112,255,777	E195*	probably null	Het
Slc7a10	A	T	7: 35,197,333	T165S	probably benign	Het
Smagp	A	G	15: 100,621,852	I97T	probably damaging	Het
Sostdc1	A	G	12: 36,317,341	H172R	probably damaging	Het
Spast	A	G	17: 74,339,451		probably benign	Het
Sspo	G	T	6: 48,490,391		probably benign	Het
Ston2	C	T	12: 91,740,466		probably null	Het
Tas2r103	T	G	6: 133,036,350	E251A	probably benign	Het
Tbc1d2b	A	T	9: 90,222,505		probably benign	Het
Telo2	G	A	17: 25,113,165	P143L	probably benign	Het
Tgfbi	A	T	13: 56,638,726	Y674F	probably null	Het
Tha1	T	A	11: 117,873,157		probably benign	Het
Timp4	T	A	6: 115,249,853	S110C	probably damaging	Het
Tlr6	T	C	5: 64,954,592	K324R	probably benign	Het
Tnip3	A	G	6: 65,597,363	E137G	probably damaging	Het
Trak1	T	C	9: 121,448,955		probably null	Het
Trim47	A	G	11: 116,108,352	S233P	probably benign	Het
Tspoap1	A	T	11: 87,762,809	E155V	probably damaging	Het
Tsta3	A	G	15: 75,928,958	V27A	possibly damaging	Het
Utp14b	T	C	1: 78,664,735	S117P	probably benign	Het
Vmn1r124	A	T	7: 21,260,511	V36D	probably damaging	Het
Wdr27	T	C	17: 14,928,396	T112A	probably benign	Het
Wdr90	T	C	17: 25,846,393	T1630A	probably benign	Het
Zfp352	A	G	4: 90,223,919	T99A	probably benign	Het

Other mutations in Uggt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Uggt1	APN	1	36179552	splice site	probably benign
IGL00817:Uggt1	APN	1	36185932	missense	probably benign	0.03
IGL01395:Uggt1	APN	1	36155077	missense	probably damaging	1.00
IGL01609:Uggt1	APN	1	36182474	missense	probably damaging	1.00
IGL01619:Uggt1	APN	1	36161694	missense	probably damaging	0.99
IGL02077:Uggt1	APN	1	36176794	missense	probably damaging	0.99
IGL02313:Uggt1	APN	1	36184484	missense	probably damaging	0.99
IGL02341:Uggt1	APN	1	36164519	makesense	probably null
IGL02346:Uggt1	APN	1	36179670	missense	probably benign	0.00
IGL02447:Uggt1	APN	1	36150142	missense	probably damaging	1.00
IGL02883:Uggt1	APN	1	36177615	missense	probably benign	0.03
IGL02930:Uggt1	APN	1	36157456	missense	probably benign	0.01
IGL03153:Uggt1	APN	1	36202818	missense	possibly damaging	0.94
IGL03162:Uggt1	APN	1	36207956	missense	probably damaging	1.00
IGL03170:Uggt1	APN	1	36163261	missense	probably damaging	1.00
IGL03266:Uggt1	APN	1	36150048	missense	probably damaging	1.00
K3955:Uggt1	UTSW	1	36162353	missense	probably benign	0.37
R0037:Uggt1	UTSW	1	36185932	missense	probably benign	0.03
R0037:Uggt1	UTSW	1	36185932	missense	probably benign	0.03
R0167:Uggt1	UTSW	1	36170197	critical splice donor site	probably null
R0373:Uggt1	UTSW	1	36179670	missense	probably benign	0.00
R0502:Uggt1	UTSW	1	36159946	missense	probably damaging	1.00
R0546:Uggt1	UTSW	1	36195971	missense	probably benign	0.00
R0610:Uggt1	UTSW	1	36165506	splice site	probably benign
R0760:Uggt1	UTSW	1	36161724	missense	possibly damaging	0.68
R0825:Uggt1	UTSW	1	36158143	missense	probably benign	0.01
R0827:Uggt1	UTSW	1	36156313	critical splice acceptor site	probably null
R0884:Uggt1	UTSW	1	36175078	missense	probably benign	0.00
R1112:Uggt1	UTSW	1	36173546	missense	possibly damaging	0.54
R1470:Uggt1	UTSW	1	36176796	missense	probably benign	0.13
R1470:Uggt1	UTSW	1	36176796	missense	probably benign	0.13
R1592:Uggt1	UTSW	1	36202858	missense	probably benign	0.04
R1730:Uggt1	UTSW	1	36221261	missense	probably benign	0.05
R1923:Uggt1	UTSW	1	36179613	missense	probably damaging	0.99
R1970:Uggt1	UTSW	1	36151781	missense	probably damaging	1.00
R2086:Uggt1	UTSW	1	36192414	missense	probably null	1.00
R2829:Uggt1	UTSW	1	36162294	missense	probably benign	0.38
R3431:Uggt1	UTSW	1	36210059	nonsense	probably null
R3432:Uggt1	UTSW	1	36210059	nonsense	probably null
R3725:Uggt1	UTSW	1	36182507	nonsense	probably null
R3880:Uggt1	UTSW	1	36176804	intron	probably benign
R4052:Uggt1	UTSW	1	36164489	missense	probably damaging	0.98
R4133:Uggt1	UTSW	1	36158159	missense	probably damaging	1.00
R4489:Uggt1	UTSW	1	36146668	nonsense	probably null
R4570:Uggt1	UTSW	1	36150073	missense	probably damaging	1.00
R4866:Uggt1	UTSW	1	36202855	nonsense	probably null
R4895:Uggt1	UTSW	1	36156264	missense	probably damaging	1.00
R4900:Uggt1	UTSW	1	36202855	nonsense	probably null
R5372:Uggt1	UTSW	1	36244060	splice site	probably benign
R5385:Uggt1	UTSW	1	36184412	missense	probably damaging	1.00
R5652:Uggt1	UTSW	1	36216153	nonsense	probably null
R5694:Uggt1	UTSW	1	36179656	missense	probably damaging	1.00
R5732:Uggt1	UTSW	1	36161771	splice site	probably null
R5893:Uggt1	UTSW	1	36227628	splice site	probably null
R6191:Uggt1	UTSW	1	36162208	missense	probably damaging	0.98
R6247:Uggt1	UTSW	1	36163228	missense	probably damaging	1.00
R6259:Uggt1	UTSW	1	36234916	missense	probably benign	0.00
R6399:Uggt1	UTSW	1	36163366	missense	possibly damaging	0.90
R6439:Uggt1	UTSW	1	36174951	missense	possibly damaging	0.95
R6468:Uggt1	UTSW	1	36173450	missense	probably benign	0.00
R6788:Uggt1	UTSW	1	36230688	missense	probably benign	0.00
R7165:Uggt1	UTSW	1	36155107	missense	probably benign	0.41
R7255:Uggt1	UTSW	1	36146106	missense	probably damaging	1.00
R7273:Uggt1	UTSW	1	36162221	missense	probably damaging	0.99
R7469:Uggt1	UTSW	1	36151733	missense	probably damaging	1.00
R7490:Uggt1	UTSW	1	36164508	missense	probably benign	0.01
R7570:Uggt1	UTSW	1	36185838	missense	probably benign	0.09
R7612:Uggt1	UTSW	1	36163235	missense	probably damaging	0.99
R7759:Uggt1	UTSW	1	36146725	missense	possibly damaging	0.81
R7792:Uggt1	UTSW	1	36207984	missense	probably damaging	1.00
R7816:Uggt1	UTSW	1	36163315	missense	possibly damaging	0.95
R7858:Uggt1	UTSW	1	36156258	missense	probably damaging	1.00
R7887:Uggt1	UTSW	1	36208034	missense	probably damaging	0.99
R8040:Uggt1	UTSW	1	36211473	missense	possibly damaging	0.70
R8093:Uggt1	UTSW	1	36227485	missense	probably damaging	1.00
R8245:Uggt1	UTSW	1	36165564	missense	probably damaging	1.00
R8338:Uggt1	UTSW	1	36227521	missense	probably damaging	1.00
R8353:Uggt1	UTSW	1	36170296	critical splice acceptor site	probably null
R8442:Uggt1	UTSW	1	36173487	missense	probably damaging	0.99
R8519:Uggt1	UTSW	1	36176643	splice site	probably null
R8529:Uggt1	UTSW	1	36184432	missense	possibly damaging	0.85
R8730:Uggt1	UTSW	1	36197543	critical splice donor site	probably null
R8917:Uggt1	UTSW	1	36146654	missense
R8947:Uggt1	UTSW	1	36158148	missense	probably benign	0.12
R9240:Uggt1	UTSW	1	36182615	missense	possibly damaging	0.50
R9248:Uggt1	UTSW	1	36210022	missense	possibly damaging	0.80
R9401:Uggt1	UTSW	1	36216131	critical splice donor site	probably null
R9414:Uggt1	UTSW	1	36184426	missense	probably benign	0.01
R9416:Uggt1	UTSW	1	36164522	missense
R9441:Uggt1	UTSW	1	36221225	missense	probably benign	0.02
R9489:Uggt1	UTSW	1	36234805	critical splice donor site	probably null
R9563:Uggt1	UTSW	1	36165546	missense	possibly damaging	0.60
R9605:Uggt1	UTSW	1	36234805	critical splice donor site	probably null
X0022:Uggt1	UTSW	1	36165555	missense	possibly damaging	0.67
Z1088:Uggt1	UTSW	1	36174191	missense	probably damaging	1.00
Z1176:Uggt1	UTSW	1	36161695	missense	probably damaging	1.00
Z1177:Uggt1	UTSW	1	36155073	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TGATGACATCTGAGTGATCTCTTCCCA -3'
(R):5'- CCAGACCTTGTTTCAGTGCGAGT -3'

Sequencing Primer
(F):5'- CATGTTCCTGAACTACTGATGCAAAC -3'
(R):5'- AAGGATCAGTCTTTTTAATCAGAGTG -3'

Posted On

2013-07-30