Incidental Mutation 'R0502:Uggt1'
ID |
47169 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uggt1
|
Ensembl Gene |
ENSMUSG00000037470 |
Gene Name |
UDP-glucose glycoprotein glucosyltransferase 1 |
Synonyms |
C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik |
MMRRC Submission |
038697-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.470)
|
Stock # |
R0502 (G1)
|
Quality Score |
218 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
36179109-36283407 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 36199027 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1207
(V1207E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037930
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046875]
[ENSMUST00000173166]
[ENSMUST00000174266]
|
AlphaFold |
Q6P5E4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046875
AA Change: V1207E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037930 Gene: ENSMUSG00000037470 AA Change: V1207E
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: ENSMUST00000173082
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173166
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173999
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174224
|
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 |
0.8666 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
100% (63/63) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,838,322 (GRCm39) |
H755R |
possibly damaging |
Het |
Ano1 |
A |
G |
7: 144,150,952 (GRCm39) |
L821P |
probably damaging |
Het |
Apol10b |
T |
A |
15: 77,476,349 (GRCm39) |
|
probably benign |
Het |
Atp2c2 |
A |
G |
8: 120,461,316 (GRCm39) |
E279G |
probably null |
Het |
Ccar2 |
A |
G |
14: 70,378,431 (GRCm39) |
S625P |
probably benign |
Het |
Ccdc110 |
A |
G |
8: 46,387,761 (GRCm39) |
|
probably benign |
Het |
Cep350 |
A |
T |
1: 155,776,629 (GRCm39) |
|
probably null |
Het |
Chd3 |
A |
G |
11: 69,244,931 (GRCm39) |
V1203A |
probably damaging |
Het |
Col24a1 |
A |
G |
3: 145,251,071 (GRCm39) |
|
probably benign |
Het |
Col6a6 |
A |
T |
9: 105,644,550 (GRCm39) |
M1246K |
probably benign |
Het |
Crot |
A |
G |
5: 9,026,075 (GRCm39) |
V304A |
possibly damaging |
Het |
Dapk1 |
T |
A |
13: 60,878,662 (GRCm39) |
|
probably null |
Het |
Dicer1 |
A |
T |
12: 104,671,319 (GRCm39) |
S984T |
probably damaging |
Het |
Dmbt1 |
G |
A |
7: 130,699,403 (GRCm39) |
|
probably null |
Het |
Dnah7b |
A |
T |
1: 46,258,704 (GRCm39) |
E1965V |
probably damaging |
Het |
Dpp4 |
G |
T |
2: 62,195,332 (GRCm39) |
N315K |
probably damaging |
Het |
Eeig2 |
G |
A |
3: 108,900,001 (GRCm39) |
R116C |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,057,073 (GRCm39) |
S4256R |
probably damaging |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Gpatch4 |
A |
G |
3: 87,962,672 (GRCm39) |
D295G |
probably benign |
Het |
Gpbar1 |
A |
T |
1: 74,318,551 (GRCm39) |
I265F |
probably benign |
Het |
Gria1 |
T |
G |
11: 57,080,542 (GRCm39) |
V175G |
probably damaging |
Het |
Hacl1 |
A |
T |
14: 31,344,941 (GRCm39) |
|
probably benign |
Het |
Hnrnpc |
A |
G |
14: 52,312,629 (GRCm39) |
|
probably benign |
Het |
Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
Ifnar1 |
T |
A |
16: 91,298,639 (GRCm39) |
C419S |
probably damaging |
Het |
Irx4 |
T |
A |
13: 73,414,703 (GRCm39) |
|
probably null |
Het |
Itga2 |
T |
G |
13: 114,982,392 (GRCm39) |
N1038H |
probably benign |
Het |
Kif16b |
C |
T |
2: 142,554,075 (GRCm39) |
D908N |
probably benign |
Het |
Lamc1 |
A |
G |
1: 153,122,678 (GRCm39) |
|
probably benign |
Het |
Lrig3 |
A |
G |
10: 125,844,605 (GRCm39) |
T690A |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,341,361 (GRCm39) |
K940E |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,363,608 (GRCm39) |
S1775P |
probably damaging |
Het |
Mrps27 |
G |
T |
13: 99,546,303 (GRCm39) |
|
probably benign |
Het |
Ncam1 |
A |
G |
9: 49,481,118 (GRCm39) |
|
probably benign |
Het |
Nopchap1 |
A |
G |
10: 83,197,920 (GRCm39) |
D42G |
probably damaging |
Het |
Or2z2 |
T |
C |
11: 58,346,140 (GRCm39) |
I212V |
possibly damaging |
Het |
Or51a5 |
A |
T |
7: 102,771,643 (GRCm39) |
M112K |
possibly damaging |
Het |
Pbrm1 |
T |
G |
14: 30,786,777 (GRCm39) |
D631E |
probably benign |
Het |
Pdc |
A |
T |
1: 150,204,165 (GRCm39) |
|
probably benign |
Het |
Pkd1 |
T |
C |
17: 24,793,766 (GRCm39) |
S1818P |
probably damaging |
Het |
Ptpru |
T |
C |
4: 131,520,954 (GRCm39) |
N784S |
probably benign |
Het |
Rab35 |
G |
A |
5: 115,783,723 (GRCm39) |
R170Q |
probably benign |
Het |
Rerg |
A |
T |
6: 137,033,305 (GRCm39) |
C123* |
probably null |
Het |
Ros1 |
A |
G |
10: 52,070,919 (GRCm39) |
|
probably benign |
Het |
Siglece |
A |
G |
7: 43,309,355 (GRCm39) |
Y68H |
probably damaging |
Het |
Slc28a2 |
T |
A |
2: 122,288,762 (GRCm39) |
|
probably null |
Het |
Slc4a11 |
T |
C |
2: 130,530,077 (GRCm39) |
K234E |
probably damaging |
Het |
Sqor |
C |
T |
2: 122,639,970 (GRCm39) |
P158S |
probably benign |
Het |
Tcerg1 |
C |
T |
18: 42,656,021 (GRCm39) |
P110S |
unknown |
Het |
Tm6sf2 |
T |
A |
8: 70,530,591 (GRCm39) |
Y224N |
probably damaging |
Het |
Tmem39b |
A |
C |
4: 129,580,779 (GRCm39) |
Y238D |
possibly damaging |
Het |
Ttll10 |
T |
C |
4: 156,132,005 (GRCm39) |
|
probably benign |
Het |
Ubap2l |
A |
T |
3: 89,916,520 (GRCm39) |
L898Q |
probably damaging |
Het |
Uhrf2 |
A |
G |
19: 30,070,176 (GRCm39) |
D775G |
probably damaging |
Het |
Utp25 |
A |
T |
1: 192,797,136 (GRCm39) |
|
probably benign |
Het |
Vmn1r196 |
G |
A |
13: 22,477,557 (GRCm39) |
M65I |
probably benign |
Het |
Vmn1r87 |
T |
G |
7: 12,865,583 (GRCm39) |
T235P |
probably damaging |
Het |
Vmn2r96 |
T |
A |
17: 18,804,262 (GRCm39) |
M504K |
probably benign |
Het |
Zdbf2 |
A |
T |
1: 63,344,449 (GRCm39) |
I943F |
possibly damaging |
Het |
Zfp78 |
A |
G |
7: 6,376,157 (GRCm39) |
D22G |
probably damaging |
Het |
Zfp827 |
C |
T |
8: 79,905,706 (GRCm39) |
|
probably null |
Het |
Zfyve9 |
A |
T |
4: 108,576,961 (GRCm39) |
L40* |
probably null |
Het |
|
Other mutations in Uggt1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00091:Uggt1
|
APN |
1 |
36,218,633 (GRCm39) |
splice site |
probably benign |
|
IGL00817:Uggt1
|
APN |
1 |
36,225,013 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01395:Uggt1
|
APN |
1 |
36,194,158 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01609:Uggt1
|
APN |
1 |
36,221,555 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01619:Uggt1
|
APN |
1 |
36,200,775 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02077:Uggt1
|
APN |
1 |
36,215,875 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02313:Uggt1
|
APN |
1 |
36,223,565 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02341:Uggt1
|
APN |
1 |
36,203,600 (GRCm39) |
makesense |
probably null |
|
IGL02346:Uggt1
|
APN |
1 |
36,218,751 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02447:Uggt1
|
APN |
1 |
36,189,223 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02883:Uggt1
|
APN |
1 |
36,216,696 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02930:Uggt1
|
APN |
1 |
36,196,537 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03153:Uggt1
|
APN |
1 |
36,241,899 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03162:Uggt1
|
APN |
1 |
36,247,037 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03170:Uggt1
|
APN |
1 |
36,202,342 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03266:Uggt1
|
APN |
1 |
36,189,129 (GRCm39) |
missense |
probably damaging |
1.00 |
K3955:Uggt1
|
UTSW |
1 |
36,201,434 (GRCm39) |
missense |
probably benign |
0.37 |
R0037:Uggt1
|
UTSW |
1 |
36,225,013 (GRCm39) |
missense |
probably benign |
0.03 |
R0037:Uggt1
|
UTSW |
1 |
36,225,013 (GRCm39) |
missense |
probably benign |
0.03 |
R0167:Uggt1
|
UTSW |
1 |
36,209,278 (GRCm39) |
critical splice donor site |
probably null |
|
R0373:Uggt1
|
UTSW |
1 |
36,218,751 (GRCm39) |
missense |
probably benign |
0.00 |
R0546:Uggt1
|
UTSW |
1 |
36,235,052 (GRCm39) |
missense |
probably benign |
0.00 |
R0610:Uggt1
|
UTSW |
1 |
36,204,587 (GRCm39) |
splice site |
probably benign |
|
R0671:Uggt1
|
UTSW |
1 |
36,194,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R0760:Uggt1
|
UTSW |
1 |
36,200,805 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0825:Uggt1
|
UTSW |
1 |
36,197,224 (GRCm39) |
missense |
probably benign |
0.01 |
R0827:Uggt1
|
UTSW |
1 |
36,195,394 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0884:Uggt1
|
UTSW |
1 |
36,214,159 (GRCm39) |
missense |
probably benign |
0.00 |
R1112:Uggt1
|
UTSW |
1 |
36,212,627 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1470:Uggt1
|
UTSW |
1 |
36,215,877 (GRCm39) |
missense |
probably benign |
0.13 |
R1470:Uggt1
|
UTSW |
1 |
36,215,877 (GRCm39) |
missense |
probably benign |
0.13 |
R1592:Uggt1
|
UTSW |
1 |
36,241,939 (GRCm39) |
missense |
probably benign |
0.04 |
R1730:Uggt1
|
UTSW |
1 |
36,260,342 (GRCm39) |
missense |
probably benign |
0.05 |
R1923:Uggt1
|
UTSW |
1 |
36,218,694 (GRCm39) |
missense |
probably damaging |
0.99 |
R1970:Uggt1
|
UTSW |
1 |
36,190,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R2086:Uggt1
|
UTSW |
1 |
36,231,495 (GRCm39) |
missense |
probably null |
1.00 |
R2829:Uggt1
|
UTSW |
1 |
36,201,375 (GRCm39) |
missense |
probably benign |
0.38 |
R3431:Uggt1
|
UTSW |
1 |
36,249,140 (GRCm39) |
nonsense |
probably null |
|
R3432:Uggt1
|
UTSW |
1 |
36,249,140 (GRCm39) |
nonsense |
probably null |
|
R3725:Uggt1
|
UTSW |
1 |
36,221,588 (GRCm39) |
nonsense |
probably null |
|
R3880:Uggt1
|
UTSW |
1 |
36,215,885 (GRCm39) |
intron |
probably benign |
|
R4052:Uggt1
|
UTSW |
1 |
36,203,570 (GRCm39) |
missense |
probably damaging |
0.98 |
R4133:Uggt1
|
UTSW |
1 |
36,197,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R4489:Uggt1
|
UTSW |
1 |
36,185,749 (GRCm39) |
nonsense |
probably null |
|
R4570:Uggt1
|
UTSW |
1 |
36,189,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R4866:Uggt1
|
UTSW |
1 |
36,241,936 (GRCm39) |
nonsense |
probably null |
|
R4895:Uggt1
|
UTSW |
1 |
36,195,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R4900:Uggt1
|
UTSW |
1 |
36,241,936 (GRCm39) |
nonsense |
probably null |
|
R5372:Uggt1
|
UTSW |
1 |
36,283,141 (GRCm39) |
splice site |
probably benign |
|
R5385:Uggt1
|
UTSW |
1 |
36,223,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R5652:Uggt1
|
UTSW |
1 |
36,255,234 (GRCm39) |
nonsense |
probably null |
|
R5694:Uggt1
|
UTSW |
1 |
36,218,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R5732:Uggt1
|
UTSW |
1 |
36,200,852 (GRCm39) |
splice site |
probably null |
|
R5893:Uggt1
|
UTSW |
1 |
36,266,709 (GRCm39) |
splice site |
probably null |
|
R6191:Uggt1
|
UTSW |
1 |
36,201,289 (GRCm39) |
missense |
probably damaging |
0.98 |
R6247:Uggt1
|
UTSW |
1 |
36,202,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R6259:Uggt1
|
UTSW |
1 |
36,273,997 (GRCm39) |
missense |
probably benign |
0.00 |
R6399:Uggt1
|
UTSW |
1 |
36,202,447 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6439:Uggt1
|
UTSW |
1 |
36,214,032 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6468:Uggt1
|
UTSW |
1 |
36,212,531 (GRCm39) |
missense |
probably benign |
0.00 |
R6788:Uggt1
|
UTSW |
1 |
36,269,769 (GRCm39) |
missense |
probably benign |
0.00 |
R7165:Uggt1
|
UTSW |
1 |
36,194,188 (GRCm39) |
missense |
probably benign |
0.41 |
R7255:Uggt1
|
UTSW |
1 |
36,185,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R7273:Uggt1
|
UTSW |
1 |
36,201,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R7469:Uggt1
|
UTSW |
1 |
36,190,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R7490:Uggt1
|
UTSW |
1 |
36,203,589 (GRCm39) |
missense |
probably benign |
0.01 |
R7570:Uggt1
|
UTSW |
1 |
36,224,919 (GRCm39) |
missense |
probably benign |
0.09 |
R7612:Uggt1
|
UTSW |
1 |
36,202,316 (GRCm39) |
missense |
probably damaging |
0.99 |
R7759:Uggt1
|
UTSW |
1 |
36,185,806 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7792:Uggt1
|
UTSW |
1 |
36,247,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R7816:Uggt1
|
UTSW |
1 |
36,202,396 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7858:Uggt1
|
UTSW |
1 |
36,195,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R7887:Uggt1
|
UTSW |
1 |
36,247,115 (GRCm39) |
missense |
probably damaging |
0.99 |
R8040:Uggt1
|
UTSW |
1 |
36,250,554 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8093:Uggt1
|
UTSW |
1 |
36,266,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R8245:Uggt1
|
UTSW |
1 |
36,204,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R8338:Uggt1
|
UTSW |
1 |
36,266,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R8353:Uggt1
|
UTSW |
1 |
36,209,377 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8442:Uggt1
|
UTSW |
1 |
36,212,568 (GRCm39) |
missense |
probably damaging |
0.99 |
R8519:Uggt1
|
UTSW |
1 |
36,215,724 (GRCm39) |
splice site |
probably null |
|
R8529:Uggt1
|
UTSW |
1 |
36,223,513 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8730:Uggt1
|
UTSW |
1 |
36,236,624 (GRCm39) |
critical splice donor site |
probably null |
|
R8917:Uggt1
|
UTSW |
1 |
36,185,735 (GRCm39) |
missense |
|
|
R8947:Uggt1
|
UTSW |
1 |
36,197,229 (GRCm39) |
missense |
probably benign |
0.12 |
R9240:Uggt1
|
UTSW |
1 |
36,221,696 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9248:Uggt1
|
UTSW |
1 |
36,249,103 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9401:Uggt1
|
UTSW |
1 |
36,255,212 (GRCm39) |
critical splice donor site |
probably null |
|
R9414:Uggt1
|
UTSW |
1 |
36,223,507 (GRCm39) |
missense |
probably benign |
0.01 |
R9416:Uggt1
|
UTSW |
1 |
36,203,603 (GRCm39) |
missense |
|
|
R9441:Uggt1
|
UTSW |
1 |
36,260,306 (GRCm39) |
missense |
probably benign |
0.02 |
R9489:Uggt1
|
UTSW |
1 |
36,273,886 (GRCm39) |
critical splice donor site |
probably null |
|
R9563:Uggt1
|
UTSW |
1 |
36,204,627 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9605:Uggt1
|
UTSW |
1 |
36,273,886 (GRCm39) |
critical splice donor site |
probably null |
|
X0022:Uggt1
|
UTSW |
1 |
36,204,636 (GRCm39) |
missense |
possibly damaging |
0.67 |
Z1088:Uggt1
|
UTSW |
1 |
36,213,272 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Uggt1
|
UTSW |
1 |
36,200,776 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Uggt1
|
UTSW |
1 |
36,194,154 (GRCm39) |
missense |
probably null |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAAAAGTGACAATCTGTTGGCTGAAG -3'
(R):5'- GTTTCTACAATGAAGATGGGCAAGCAC -3'
Sequencing Primer
(F):5'- gagacattccaagcccctac -3'
(R):5'- ACAGCCCATCTTGTTGTCTGAG -3'
|
Posted On |
2013-06-12 |