Incidental Mutation 'R4570:Uggt1'
ID |
342048 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uggt1
|
Ensembl Gene |
ENSMUSG00000037470 |
Gene Name |
UDP-glucose glycoprotein glucosyltransferase 1 |
Synonyms |
C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik |
MMRRC Submission |
041794-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.470)
|
Stock # |
R4570 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
36179109-36283407 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36189154 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 1444
(D1444V)
|
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: D1444V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037930 Gene: ENSMUSG00000037470 AA Change: D1444V
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 |
0.9002 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
99% (78/79) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
A |
G |
10: 79,842,528 (GRCm39) |
D1154G |
probably damaging |
Het |
Acsl5 |
T |
A |
19: 55,280,206 (GRCm39) |
I493N |
probably damaging |
Het |
Adgrf5 |
T |
A |
17: 43,756,006 (GRCm39) |
S450T |
probably benign |
Het |
Ak2 |
T |
C |
4: 128,895,960 (GRCm39) |
V79A |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Arfgef2 |
C |
A |
2: 166,698,458 (GRCm39) |
Q643K |
probably damaging |
Het |
Asap3 |
A |
G |
4: 135,967,496 (GRCm39) |
D605G |
probably damaging |
Het |
Ccr5 |
C |
T |
9: 123,924,912 (GRCm39) |
Q172* |
probably null |
Het |
Cpxm2 |
T |
C |
7: 131,745,435 (GRCm39) |
D130G |
probably benign |
Het |
Cspg4b |
T |
A |
13: 113,454,725 (GRCm39) |
V257D |
probably damaging |
Het |
Cxcl12 |
T |
C |
6: 117,145,633 (GRCm39) |
V6A |
probably benign |
Het |
Cyp19a1 |
G |
A |
9: 54,100,607 (GRCm39) |
P27S |
probably benign |
Het |
Dmxl1 |
T |
C |
18: 49,985,427 (GRCm39) |
Y225H |
probably damaging |
Het |
Dzip1l |
A |
T |
9: 99,529,221 (GRCm39) |
K317* |
probably null |
Het |
Edil3 |
A |
G |
13: 89,280,016 (GRCm39) |
|
probably benign |
Het |
Enpep |
A |
T |
3: 129,075,197 (GRCm39) |
I707K |
possibly damaging |
Het |
Fcrlb |
A |
G |
1: 170,740,189 (GRCm39) |
|
probably null |
Het |
Flt1 |
C |
T |
5: 147,531,423 (GRCm39) |
A847T |
probably damaging |
Het |
Fsd2 |
T |
C |
7: 81,209,518 (GRCm39) |
D108G |
probably benign |
Het |
Gemin6 |
C |
T |
17: 80,535,498 (GRCm39) |
R153* |
probably null |
Het |
Gldc |
T |
A |
19: 30,151,839 (GRCm39) |
M112L |
probably benign |
Het |
Gm10267 |
C |
T |
18: 44,289,492 (GRCm39) |
M79I |
probably benign |
Het |
Gm10803 |
A |
G |
2: 93,394,597 (GRCm39) |
Y123C |
unknown |
Het |
Gm28040 |
C |
A |
1: 133,257,119 (GRCm39) |
|
probably benign |
Het |
Gm8674 |
T |
A |
13: 50,056,570 (GRCm39) |
|
noncoding transcript |
Het |
Gprasp1 |
C |
T |
X: 134,703,592 (GRCm39) |
R1262C |
probably damaging |
Het |
Hba-a2 |
T |
C |
11: 32,247,200 (GRCm39) |
Y141H |
probably damaging |
Het |
Hmbox1 |
T |
A |
14: 65,061,111 (GRCm39) |
I388F |
possibly damaging |
Het |
Hs6st1 |
G |
T |
1: 36,142,628 (GRCm39) |
V188L |
possibly damaging |
Het |
Ipmk |
T |
G |
10: 71,208,569 (GRCm39) |
H118Q |
probably benign |
Het |
Jhy |
A |
G |
9: 40,822,389 (GRCm39) |
I583T |
probably benign |
Het |
Kcna2 |
A |
G |
3: 107,012,111 (GRCm39) |
I231V |
probably benign |
Het |
Kcnh7 |
T |
C |
2: 62,667,439 (GRCm39) |
T367A |
possibly damaging |
Het |
Kcp |
A |
T |
6: 29,491,847 (GRCm39) |
C197* |
probably null |
Het |
Klra2 |
C |
A |
6: 131,220,900 (GRCm39) |
C54F |
probably damaging |
Het |
Lcn9 |
T |
C |
2: 25,713,591 (GRCm39) |
L39P |
probably benign |
Het |
Lct |
T |
C |
1: 128,227,641 (GRCm39) |
N1284S |
probably benign |
Het |
Map6 |
T |
G |
7: 98,985,763 (GRCm39) |
S556A |
possibly damaging |
Het |
Mdn1 |
C |
A |
4: 32,741,812 (GRCm39) |
T3861K |
probably damaging |
Het |
Mrps12 |
A |
G |
7: 28,439,388 (GRCm39) |
L109P |
probably damaging |
Het |
Mucl3 |
T |
C |
17: 35,948,883 (GRCm39) |
T239A |
possibly damaging |
Het |
Mybphl |
G |
A |
3: 108,272,347 (GRCm39) |
C12Y |
possibly damaging |
Het |
Nek9 |
T |
C |
12: 85,367,508 (GRCm39) |
K388E |
probably damaging |
Het |
Nvl |
A |
G |
1: 180,971,647 (GRCm39) |
V9A |
probably benign |
Het |
Obscn |
T |
C |
11: 58,897,654 (GRCm39) |
|
probably null |
Het |
Or2h2 |
T |
C |
17: 37,396,471 (GRCm39) |
I195M |
probably damaging |
Het |
Pik3c3 |
T |
A |
18: 30,423,603 (GRCm39) |
I233N |
possibly damaging |
Het |
Pkhd1 |
T |
A |
1: 20,451,747 (GRCm39) |
I2183F |
probably damaging |
Het |
Ppara |
A |
G |
15: 85,671,398 (GRCm39) |
I100V |
probably benign |
Het |
Rem2 |
T |
C |
14: 54,715,116 (GRCm39) |
S98P |
probably damaging |
Het |
Rpl5-ps2 |
G |
T |
2: 154,546,156 (GRCm39) |
|
noncoding transcript |
Het |
Scmh1 |
T |
A |
4: 120,385,495 (GRCm39) |
H623Q |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,313,902 (GRCm39) |
S1939P |
possibly damaging |
Het |
Slc6a13 |
T |
C |
6: 121,313,101 (GRCm39) |
|
probably null |
Het |
Slc7a4 |
G |
A |
16: 17,392,141 (GRCm39) |
T431I |
probably benign |
Het |
Snupn |
A |
G |
9: 56,885,346 (GRCm39) |
E217G |
probably benign |
Het |
Spopl |
T |
A |
2: 23,427,497 (GRCm39) |
K212* |
probably null |
Het |
Strn |
T |
A |
17: 78,984,801 (GRCm39) |
T281S |
possibly damaging |
Het |
Supt3 |
T |
A |
17: 45,352,116 (GRCm39) |
L265* |
probably null |
Het |
Taf5l |
G |
A |
8: 124,724,289 (GRCm39) |
T510M |
probably damaging |
Het |
Tapbp |
C |
A |
17: 34,145,427 (GRCm39) |
D415E |
probably damaging |
Het |
Tarbp1 |
A |
T |
8: 127,178,972 (GRCm39) |
D702E |
probably benign |
Het |
Tfap2c |
C |
A |
2: 172,399,247 (GRCm39) |
P473Q |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,913,909 (GRCm39) |
N1301S |
probably damaging |
Het |
Trim33 |
A |
G |
3: 103,237,481 (GRCm39) |
Q179R |
probably damaging |
Het |
Txnrd2 |
A |
G |
16: 18,287,554 (GRCm39) |
N335S |
probably benign |
Het |
Ugt3a1 |
T |
C |
15: 9,338,807 (GRCm39) |
L57P |
probably benign |
Het |
Vmn2r6 |
A |
T |
3: 64,467,068 (GRCm39) |
W144R |
probably benign |
Het |
Vmn2r98 |
T |
A |
17: 19,286,354 (GRCm39) |
M284K |
probably benign |
Het |
Zfp558 |
A |
T |
9: 18,367,799 (GRCm39) |
C330S |
possibly damaging |
Het |
Zfp703 |
T |
C |
8: 27,468,981 (GRCm39) |
V215A |
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 |
|
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'- TTGACAGTCTCAGAGCCTTTGG -3'
(R):5'- TGGCCTGTTCCATCCATGAC -3'
Sequencing Primer
(F):5'- AGCCTTTGGGATCAGACAAGTCTC -3'
(R):5'- GACCTCTCCCACCATTCAGTTGG -3'
|
Posted On |
2015-09-24 |