Incidental Mutation 'R8353:Uggt1'
ID |
660513 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uggt1
|
Ensembl Gene |
ENSMUSG00000037470 |
Gene Name |
UDP-glucose glycoprotein glucosyltransferase 1 |
Synonyms |
C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik |
MMRRC Submission |
067805-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.470)
|
Stock # |
R8353 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
36179109-36283407 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to C
at 36209377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037930
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046875]
[ENSMUST00000046875]
[ENSMUST00000173166]
[ENSMUST00000174266]
|
AlphaFold |
Q6P5E4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000046875
|
SMART Domains |
Protein: ENSMUSP00000037930 Gene: ENSMUSG00000037470
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 |
probably null
Transcript: ENSMUST00000046875
|
SMART Domains |
Protein: ENSMUSP00000037930 Gene: ENSMUSG00000037470
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 |
probably benign
Transcript: ENSMUST00000173166
|
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 |
0.9596 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
98% (61/62) |
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 |
Abr |
T |
C |
11: 76,310,659 (GRCm39) |
T752A |
probably damaging |
Het |
Adar |
A |
G |
3: 89,657,569 (GRCm39) |
T508A |
possibly damaging |
Het |
Atxn3 |
T |
A |
12: 101,912,159 (GRCm39) |
K85I |
probably benign |
Het |
Atxn7l1 |
G |
T |
12: 33,197,882 (GRCm39) |
W50L |
probably damaging |
Het |
Bahcc1 |
T |
C |
11: 120,165,251 (GRCm39) |
V894A |
probably damaging |
Het |
Bloc1s3 |
G |
T |
7: 19,241,324 (GRCm39) |
T68K |
probably benign |
Het |
Bmerb1 |
T |
A |
16: 13,855,877 (GRCm39) |
|
probably null |
Het |
Brd10 |
T |
C |
19: 29,731,242 (GRCm39) |
H590R |
possibly damaging |
Het |
C130073F10Rik |
C |
T |
4: 101,747,881 (GRCm39) |
|
probably null |
Het |
Cd55b |
T |
C |
1: 130,341,870 (GRCm39) |
I256V |
probably benign |
Het |
Celsr3 |
T |
A |
9: 108,703,734 (GRCm39) |
D72E |
probably benign |
Het |
Cep41 |
T |
C |
6: 30,658,891 (GRCm39) |
D152G |
probably benign |
Het |
Cip2a |
C |
T |
16: 48,821,436 (GRCm39) |
Q181* |
probably null |
Het |
Cpne8 |
C |
A |
15: 90,425,496 (GRCm39) |
K285N |
possibly damaging |
Het |
Csmd3 |
A |
T |
15: 47,813,349 (GRCm39) |
I1061K |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,805,953 (GRCm39) |
N2255Y |
probably damaging |
Het |
Cym |
T |
A |
3: 107,129,025 (GRCm39) |
|
probably benign |
Het |
Cyp2d9 |
T |
C |
15: 82,336,720 (GRCm39) |
V23A |
probably damaging |
Het |
Dnah1 |
A |
T |
14: 31,005,159 (GRCm39) |
I2365K |
probably benign |
Het |
Dock5 |
C |
T |
14: 68,054,957 (GRCm39) |
|
probably null |
Het |
Dop1a |
A |
T |
9: 86,403,639 (GRCm39) |
H1613L |
probably damaging |
Het |
Dusp5 |
T |
C |
19: 53,518,113 (GRCm39) |
V122A |
possibly damaging |
Het |
Emc6 |
A |
G |
11: 73,067,399 (GRCm39) |
L44P |
probably damaging |
Het |
Fbxl6 |
G |
T |
15: 76,422,678 (GRCm39) |
T80K |
probably benign |
Het |
Frrs1 |
T |
A |
3: 116,692,822 (GRCm39) |
M32K |
possibly damaging |
Het |
Gfod1 |
A |
G |
13: 43,354,366 (GRCm39) |
V203A |
possibly damaging |
Het |
Gjc2 |
G |
A |
11: 59,067,840 (GRCm39) |
A214V |
unknown |
Het |
Gkn2 |
T |
C |
6: 87,355,135 (GRCm39) |
Y115H |
probably damaging |
Het |
Gpatch1 |
A |
C |
7: 34,976,704 (GRCm39) |
|
probably benign |
Het |
Hemgn |
G |
T |
4: 46,403,935 (GRCm39) |
P20Q |
possibly damaging |
Het |
Herc1 |
G |
T |
9: 66,415,571 (GRCm39) |
V4849L |
possibly damaging |
Het |
Hmcn2 |
A |
T |
2: 31,275,353 (GRCm39) |
|
probably null |
Het |
Htt |
C |
A |
5: 35,034,499 (GRCm39) |
T1990N |
possibly damaging |
Het |
Jrk |
C |
T |
15: 74,578,474 (GRCm39) |
W270* |
probably null |
Het |
Katnb1 |
A |
G |
8: 95,822,072 (GRCm39) |
D266G |
probably damaging |
Het |
Klhl42 |
A |
G |
6: 147,009,421 (GRCm39) |
K420R |
probably damaging |
Het |
Lamb1 |
C |
A |
12: 31,356,998 (GRCm39) |
T1035K |
probably damaging |
Het |
Laptm5 |
T |
C |
4: 130,656,079 (GRCm39) |
|
probably null |
Het |
Lilra5 |
T |
C |
7: 4,240,971 (GRCm39) |
S22P |
probably benign |
Het |
Mn1 |
A |
G |
5: 111,568,505 (GRCm39) |
N825S |
possibly damaging |
Het |
Mup17 |
C |
T |
4: 61,510,419 (GRCm39) |
|
probably null |
Het |
Ncapd3 |
T |
A |
9: 26,983,100 (GRCm39) |
D949E |
probably benign |
Het |
Ncoa7 |
T |
C |
10: 30,570,155 (GRCm39) |
E230G |
probably damaging |
Het |
Nxnl1 |
A |
G |
8: 72,015,512 (GRCm39) |
V132A |
probably damaging |
Het |
Oard1 |
A |
G |
17: 48,723,788 (GRCm39) |
I145V |
probably benign |
Het |
Pabpc4 |
T |
G |
4: 123,189,846 (GRCm39) |
L555R |
probably benign |
Het |
Ppp1r11 |
G |
T |
17: 37,260,866 (GRCm39) |
S21R |
possibly damaging |
Het |
Prr36 |
T |
C |
8: 4,263,831 (GRCm39) |
|
probably benign |
Het |
Serpina1a |
T |
A |
12: 103,822,038 (GRCm39) |
D298V |
probably benign |
Het |
Sqle |
A |
T |
15: 59,196,314 (GRCm39) |
H369L |
possibly damaging |
Het |
Stambp |
T |
C |
6: 83,538,881 (GRCm39) |
E173G |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,300,983 (GRCm39) |
N915S |
probably damaging |
Het |
Tjap1 |
C |
A |
17: 46,593,530 (GRCm39) |
|
probably benign |
Het |
Tmem62 |
A |
C |
2: 120,814,817 (GRCm39) |
K30T |
probably damaging |
Het |
Tmtc1 |
T |
C |
6: 148,327,346 (GRCm39) |
T56A |
probably benign |
Het |
Trav6-4 |
A |
T |
14: 53,691,946 (GRCm39) |
M18L |
probably benign |
Het |
Trim69 |
T |
C |
2: 121,998,490 (GRCm39) |
I154T |
possibly damaging |
Het |
Usp48 |
T |
A |
4: 137,350,693 (GRCm39) |
M60K |
probably benign |
Het |
Usp7 |
A |
G |
16: 8,513,735 (GRCm39) |
S753P |
probably benign |
Het |
Vmn2r27 |
A |
C |
6: 124,169,404 (GRCm39) |
N575K |
probably damaging |
Het |
Wdfy4 |
A |
C |
14: 32,695,581 (GRCm39) |
D2672E |
probably benign |
Het |
Zdhhc17 |
G |
A |
10: 110,845,803 (GRCm39) |
P30L |
probably benign |
Het |
Zmym4 |
T |
A |
4: 126,800,905 (GRCm39) |
Y565F |
possibly damaging |
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 |
R0502:Uggt1
|
UTSW |
1 |
36,199,027 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TTATCTGGGAAGGTAAAGGCTG -3'
(R):5'- CAACAGCCTTGCAGAGTAGG -3'
Sequencing Primer
(F):5'- CTGTGAGACAAAGAATGAAAGCC -3'
(R):5'- TTGCAGAGTAGGCCGTTCC -3'
|
Posted On |
2021-01-18 |