Incidental Mutation 'R8519:Uggt1'
ID |
660803 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uggt1
|
Ensembl Gene |
ENSMUSG00000037470 |
Gene Name |
UDP-glucose glycoprotein glucosyltransferase 1 |
Synonyms |
C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik |
MMRRC Submission |
067946-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.470)
|
Stock # |
R8519 (G1)
|
Quality Score |
166.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
36179109-36283407 bp(-) (GRCm39) |
Type of Mutation |
splice site (133 bp from exon) |
DNA Base Change (assembly) |
A to C
at 36215724 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037930
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[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 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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (67/67) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts14 |
T |
C |
10: 61,038,619 (GRCm39) |
T964A |
possibly damaging |
Het |
Adamts7 |
G |
A |
9: 90,075,610 (GRCm39) |
W1156* |
probably null |
Het |
Adcy9 |
T |
C |
16: 4,105,992 (GRCm39) |
I1041V |
possibly damaging |
Het |
Armh4 |
T |
C |
14: 50,010,693 (GRCm39) |
D338G |
probably damaging |
Het |
Art4 |
C |
A |
6: 136,831,349 (GRCm39) |
|
probably null |
Het |
Bcl9 |
A |
G |
3: 97,116,334 (GRCm39) |
S787P |
probably benign |
Het |
Bptf |
T |
C |
11: 106,952,590 (GRCm39) |
T2088A |
probably damaging |
Het |
Cdc45 |
T |
C |
16: 18,627,597 (GRCm39) |
N76S |
probably damaging |
Het |
Cdon |
A |
G |
9: 35,389,950 (GRCm39) |
D868G |
probably damaging |
Het |
Cldn10 |
T |
G |
14: 119,092,439 (GRCm39) |
V13G |
probably benign |
Het |
Cnot6 |
G |
T |
11: 49,575,941 (GRCm39) |
Q178K |
probably benign |
Het |
Crot |
T |
C |
5: 9,023,629 (GRCm39) |
I420V |
probably benign |
Het |
Csgalnact1 |
T |
A |
8: 68,854,105 (GRCm39) |
H232L |
possibly damaging |
Het |
Cuzd1 |
T |
C |
7: 130,910,626 (GRCm39) |
I556M |
possibly damaging |
Het |
Cyp2c54 |
G |
A |
19: 40,026,857 (GRCm39) |
R433W |
probably damaging |
Het |
Cyp2j11 |
A |
G |
4: 96,207,539 (GRCm39) |
F259L |
probably benign |
Het |
Dhx9 |
C |
T |
1: 153,348,922 (GRCm39) |
G264R |
probably damaging |
Het |
Dnah5 |
G |
A |
15: 28,299,245 (GRCm39) |
V1536M |
probably benign |
Het |
Erlin1 |
T |
A |
19: 44,058,041 (GRCm39) |
|
probably benign |
Het |
Foxb2 |
C |
A |
19: 16,850,347 (GRCm39) |
V220L |
possibly damaging |
Het |
Gigyf2 |
A |
T |
1: 87,338,431 (GRCm39) |
T388S |
probably benign |
Het |
Gimap5 |
T |
C |
6: 48,730,068 (GRCm39) |
C213R |
probably benign |
Het |
Gkap1 |
T |
G |
13: 58,386,506 (GRCm39) |
K57N |
probably damaging |
Het |
H60b |
T |
G |
10: 22,159,421 (GRCm39) |
|
probably benign |
Het |
Hectd4 |
C |
T |
5: 121,442,489 (GRCm39) |
R670* |
probably null |
Het |
Hoxc9 |
A |
G |
15: 102,892,341 (GRCm39) |
N185D |
probably damaging |
Het |
Igkv1-117 |
A |
G |
6: 68,098,766 (GRCm39) |
E105G |
possibly damaging |
Het |
Klk10 |
T |
A |
7: 43,432,239 (GRCm39) |
Y57* |
probably null |
Het |
Lrrc63 |
A |
T |
14: 75,363,312 (GRCm39) |
I273K |
possibly damaging |
Het |
M6pr |
T |
C |
6: 122,292,025 (GRCm39) |
I119T |
probably damaging |
Het |
Mael |
T |
C |
1: 166,063,127 (GRCm39) |
|
probably null |
Het |
Magi1 |
A |
G |
6: 93,681,330 (GRCm39) |
S574P |
possibly damaging |
Het |
Man2c1 |
A |
G |
9: 57,044,061 (GRCm39) |
D291G |
probably benign |
Het |
Mapk1ip1l |
A |
T |
14: 47,547,920 (GRCm39) |
|
probably benign |
Het |
Mrc2 |
A |
G |
11: 105,238,132 (GRCm39) |
T1135A |
possibly damaging |
Het |
Mrpl39 |
A |
G |
16: 84,527,736 (GRCm39) |
V164A |
probably benign |
Het |
Mynn |
C |
A |
3: 30,661,290 (GRCm39) |
P124H |
probably damaging |
Het |
Or11l3 |
T |
G |
11: 58,516,800 (GRCm39) |
Q23P |
probably damaging |
Het |
Or14n1-ps1 |
A |
T |
7: 86,093,062 (GRCm39) |
N291I |
probably damaging |
Het |
Or2k2 |
A |
G |
4: 58,785,203 (GRCm39) |
I173T |
probably damaging |
Het |
Or2t48 |
A |
G |
11: 58,420,329 (GRCm39) |
F161S |
possibly damaging |
Het |
Or6k2 |
A |
G |
1: 173,986,614 (GRCm39) |
I92V |
probably damaging |
Het |
Pcif1 |
A |
G |
2: 164,726,303 (GRCm39) |
N68S |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,728,976 (GRCm39) |
N649K |
probably damaging |
Het |
Pira1 |
T |
C |
7: 3,740,432 (GRCm39) |
Q263R |
probably benign |
Het |
Plxna2 |
T |
A |
1: 194,476,266 (GRCm39) |
I1162N |
probably damaging |
Het |
Pnp2 |
T |
A |
14: 51,201,842 (GRCm39) |
L276Q |
probably damaging |
Het |
Sirpb1c |
T |
A |
3: 15,902,526 (GRCm39) |
I18F |
possibly damaging |
Het |
Slc2a12 |
A |
T |
10: 22,540,678 (GRCm39) |
M178L |
probably damaging |
Het |
Slc35c1 |
G |
T |
2: 92,285,052 (GRCm39) |
F187L |
probably benign |
Het |
Smg1 |
T |
C |
7: 117,770,982 (GRCm39) |
|
probably benign |
Het |
Spmip6 |
A |
G |
4: 41,505,071 (GRCm39) |
S214P |
possibly damaging |
Het |
Spopfm2 |
T |
C |
3: 94,083,497 (GRCm39) |
M105V |
probably benign |
Het |
Stn1 |
T |
C |
19: 47,490,111 (GRCm39) |
H342R |
probably benign |
Het |
Sult1c2 |
A |
T |
17: 54,276,709 (GRCm39) |
H117Q |
probably damaging |
Het |
Thap1 |
G |
A |
8: 26,650,925 (GRCm39) |
R42K |
probably damaging |
Het |
Tpp2 |
A |
T |
1: 44,016,365 (GRCm39) |
|
probably null |
Het |
Trib2 |
G |
T |
12: 15,865,347 (GRCm39) |
P76Q |
probably damaging |
Het |
Ttc24 |
G |
T |
3: 87,980,369 (GRCm39) |
Q111K |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,143,958 (GRCm39) |
S1401P |
probably damaging |
Het |
Ugt2b1 |
A |
G |
5: 87,074,326 (GRCm39) |
L11S |
probably damaging |
Het |
Uso1 |
T |
G |
5: 92,343,222 (GRCm39) |
S769A |
probably benign |
Het |
Vmn2r117 |
T |
C |
17: 23,698,442 (GRCm39) |
T44A |
probably benign |
Het |
Vmn2r28 |
T |
A |
7: 5,489,347 (GRCm39) |
L497F |
probably benign |
Het |
Vsig10l |
G |
A |
7: 43,114,326 (GRCm39) |
S318N |
probably benign |
Het |
Wbp4 |
A |
G |
14: 79,714,263 (GRCm39) |
L83P |
probably damaging |
Het |
Wnk1 |
G |
A |
6: 119,927,044 (GRCm39) |
R1510W |
probably damaging |
Het |
Zc3hav1l |
C |
T |
6: 38,272,176 (GRCm39) |
V198M |
probably damaging |
Het |
Zfp1004 |
A |
G |
2: 150,034,700 (GRCm39) |
I340M |
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 |
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 |
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'- TCTCTACTAACATGAAGCAGAGGG -3'
(R):5'- TCCATCTGCCTTGATTGCTAAG -3'
Sequencing Primer
(F):5'- GACCTTCCAAGTGGCTCAGTGAG -3'
(R):5'- ATCTGCCTTGATTGCTAAGTGTAC -3'
|
Posted On |
2021-03-03 |