Incidental Mutation 'R8093:Uggt1'
ID |
629964 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uggt1
|
Ensembl Gene |
ENSMUSG00000037470 |
Gene Name |
UDP-glucose glycoprotein glucosyltransferase 1 |
Synonyms |
C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik |
MMRRC Submission |
067525-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.470)
|
Stock # |
R8093 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
36179109-36283407 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36266566 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 136
(Q136L)
|
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: Q136L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000037930 Gene: ENSMUSG00000037470 AA Change: Q136L
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 damaging
Transcript: ENSMUST00000174266
AA Change: Q136L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134640 Gene: ENSMUSG00000037470 AA Change: Q136L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
42 |
N/A |
INTRINSIC |
low complexity region
|
88 |
97 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.3%
|
Validation Efficiency |
100% (60/60) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
T |
16: 4,669,368 (GRCm39) |
T745S |
possibly damaging |
Het |
Abca12 |
T |
C |
1: 71,319,552 (GRCm39) |
I1777V |
probably benign |
Het |
Abhd6 |
T |
C |
14: 8,028,353 (GRCm38) |
L28P |
probably damaging |
Het |
Angpt1 |
T |
A |
15: 42,339,873 (GRCm39) |
E279D |
probably benign |
Het |
Arfgef2 |
A |
G |
2: 166,736,577 (GRCm39) |
M1750V |
probably benign |
Het |
Atrn |
T |
C |
2: 130,817,908 (GRCm39) |
F821L |
probably benign |
Het |
Cbx3 |
A |
G |
6: 51,458,748 (GRCm39) |
E71G |
possibly damaging |
Het |
Ccdc14 |
G |
A |
16: 34,530,022 (GRCm39) |
A482T |
probably damaging |
Het |
Cdh15 |
G |
T |
8: 123,593,574 (GRCm39) |
A723S |
probably damaging |
Het |
Cyp2a12 |
A |
G |
7: 26,736,054 (GRCm39) |
S488G |
probably damaging |
Het |
Ddx55 |
C |
A |
5: 124,694,883 (GRCm39) |
H104N |
possibly damaging |
Het |
Det1 |
G |
T |
7: 78,493,257 (GRCm39) |
T249N |
possibly damaging |
Het |
Disp3 |
A |
G |
4: 148,354,973 (GRCm39) |
S348P |
possibly damaging |
Het |
Dnah6 |
T |
G |
6: 73,137,896 (GRCm39) |
N936T |
probably damaging |
Het |
Dnajc11 |
A |
T |
4: 152,054,357 (GRCm39) |
N188Y |
probably damaging |
Het |
Etaa1 |
G |
A |
11: 17,897,559 (GRCm39) |
T186I |
possibly damaging |
Het |
Fhip1a |
T |
C |
3: 85,580,111 (GRCm39) |
D698G |
probably benign |
Het |
Ftl1-ps1 |
T |
A |
13: 74,555,138 (GRCm39) |
V139E |
probably benign |
Het |
Fzd10 |
A |
G |
5: 128,679,303 (GRCm39) |
K341R |
probably benign |
Het |
Galnt7 |
A |
G |
8: 57,985,739 (GRCm39) |
Y544H |
probably benign |
Het |
Gm21190 |
T |
A |
5: 15,730,814 (GRCm39) |
I181F |
possibly damaging |
Het |
Gm3604 |
T |
C |
13: 62,517,363 (GRCm39) |
N332D |
probably damaging |
Het |
Gm47996 |
G |
T |
1: 151,086,055 (GRCm39) |
E45D |
possibly damaging |
Het |
Gm5475 |
T |
A |
15: 100,321,893 (GRCm39) |
L14Q |
unknown |
Het |
Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
Gpr182 |
T |
C |
10: 127,586,783 (GRCm39) |
Y56C |
probably damaging |
Het |
Gxylt2 |
T |
A |
6: 100,710,188 (GRCm39) |
W110R |
probably damaging |
Het |
Hivep3 |
G |
T |
4: 119,952,632 (GRCm39) |
R316L |
possibly damaging |
Het |
Hnf1a |
T |
C |
5: 115,093,336 (GRCm39) |
T310A |
probably benign |
Het |
Igkv6-32 |
A |
G |
6: 70,051,547 (GRCm39) |
F8L |
probably benign |
Het |
Kcnq1 |
A |
G |
7: 142,916,389 (GRCm39) |
N550D |
probably damaging |
Het |
Lrrc40 |
T |
G |
3: 157,757,419 (GRCm39) |
Y249* |
probably null |
Het |
Lrrc43 |
T |
A |
5: 123,639,192 (GRCm39) |
M407K |
probably benign |
Het |
Map2k6 |
A |
C |
11: 110,373,411 (GRCm39) |
E21D |
probably benign |
Het |
Mcoln1 |
T |
A |
8: 3,558,740 (GRCm39) |
I246N |
possibly damaging |
Het |
Msantd5f6 |
A |
T |
4: 73,321,759 (GRCm39) |
V92E |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,079,536 (GRCm39) |
K998E |
probably damaging |
Het |
Myo1b |
C |
T |
1: 51,797,034 (GRCm39) |
|
probably null |
Het |
Numbl |
T |
A |
7: 26,980,461 (GRCm39) |
M481K |
possibly damaging |
Het |
Nxpe4 |
G |
T |
9: 48,307,852 (GRCm39) |
V319F |
probably benign |
Het |
Pam |
C |
A |
1: 97,813,357 (GRCm39) |
D358Y |
probably damaging |
Het |
Papola |
A |
G |
12: 105,775,836 (GRCm39) |
M251V |
probably damaging |
Het |
Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
Prelid2 |
A |
G |
18: 42,065,700 (GRCm39) |
S112P |
probably damaging |
Het |
Ptgfrn |
T |
C |
3: 100,963,753 (GRCm39) |
T620A |
probably benign |
Het |
Ptgfrn |
C |
T |
3: 100,980,257 (GRCm39) |
R361Q |
probably benign |
Het |
Pygm |
T |
A |
19: 6,436,072 (GRCm39) |
M148K |
probably damaging |
Het |
Ren1 |
T |
A |
1: 133,287,812 (GRCm39) |
I382N |
probably damaging |
Het |
Rev1 |
T |
C |
1: 38,114,097 (GRCm39) |
|
probably benign |
Het |
Sdsl |
T |
C |
5: 120,598,017 (GRCm39) |
K159E |
probably benign |
Het |
Serinc4 |
T |
C |
2: 121,285,434 (GRCm39) |
N203S |
possibly damaging |
Het |
Slc12a2 |
A |
G |
18: 58,012,423 (GRCm39) |
H182R |
probably benign |
Het |
Sned1 |
C |
A |
1: 93,202,387 (GRCm39) |
T677K |
possibly damaging |
Het |
Ston2 |
G |
A |
12: 91,710,460 (GRCm39) |
T3I |
probably damaging |
Het |
Tnf |
T |
C |
17: 35,420,072 (GRCm39) |
T77A |
probably benign |
Het |
Trav6-2 |
G |
A |
14: 52,905,126 (GRCm39) |
G49E |
probably benign |
Het |
Trav7-4 |
A |
T |
14: 53,699,140 (GRCm39) |
I96F |
probably damaging |
Het |
Trmu |
T |
A |
15: 85,766,921 (GRCm39) |
D43E |
probably benign |
Het |
Ugt1a5 |
T |
A |
1: 88,094,304 (GRCm39) |
Y177* |
probably null |
Het |
Vmn1r126 |
T |
C |
7: 21,034,516 (GRCm39) |
R293G |
probably damaging |
Het |
Vmn2r89 |
A |
G |
14: 51,693,699 (GRCm39) |
I350V |
probably benign |
Het |
Vps11 |
A |
T |
9: 44,267,529 (GRCm39) |
L361Q |
probably damaging |
Het |
Zfp467 |
A |
G |
6: 48,420,366 (GRCm39) |
L5P |
possibly damaging |
Het |
Zfp652 |
A |
G |
11: 95,640,288 (GRCm39) |
H71R |
probably damaging |
Het |
Zfp804b |
T |
C |
5: 6,820,082 (GRCm39) |
K994E |
probably benign |
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 |
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'- TGTGTTCCATCCCCAAAACCAG -3'
(R):5'- TAGTCATGCCTGTCTTCCGG -3'
Sequencing Primer
(F):5'- TCACTTTGTAGACAAGGCTAGCC -3'
(R):5'- GTCTTCCGGTCGCTGTGC -3'
|
Posted On |
2020-06-30 |