Incidental Mutation 'R5696:Ugt3a1'
| ID |
501355 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt3a1
|
| Ensembl Gene |
ENSMUSG00000072664 |
| Gene Name |
UDP glycosyltransferases 3 family, polypeptide A1 |
| Synonyms |
Ugt3a2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R5696 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
9335670-9370960 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 9361534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072403]
|
| AlphaFold |
Q3UP75 |
| Predicted Effect |
silent
Transcript: ENSMUST00000072403
|
| SMART Domains |
Protein: ENSMUSP00000072236
Gene: ENSMUSG00000049152
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
23 |
521 |
1.1e-99 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
307 |
450 |
1.5e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144755
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam8 |
G |
A |
7: 139,569,159 (GRCm39) |
R186W |
probably benign |
Het |
| Afg3l2 |
A |
G |
18: 67,540,529 (GRCm39) |
I660T |
probably damaging |
Het |
| Amtn |
T |
A |
5: 88,532,944 (GRCm39) |
Y186* |
probably null |
Het |
| Atosa |
A |
G |
9: 74,917,399 (GRCm39) |
E666G |
probably benign |
Het |
| Atrip |
A |
G |
9: 108,894,569 (GRCm39) |
S453P |
possibly damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,164,813 (GRCm39) |
L840P |
probably damaging |
Het |
| Capn2 |
T |
C |
1: 182,306,165 (GRCm39) |
E527G |
possibly damaging |
Het |
| Caprin2 |
A |
T |
6: 148,779,316 (GRCm39) |
Y164N |
possibly damaging |
Het |
| Ccnh |
T |
A |
13: 85,344,446 (GRCm39) |
|
probably null |
Het |
| Cdon |
G |
T |
9: 35,403,162 (GRCm39) |
V1091F |
possibly damaging |
Het |
| Ceacam14 |
A |
G |
7: 17,548,267 (GRCm39) |
Y119C |
probably damaging |
Het |
| Ces2h |
A |
G |
8: 105,745,611 (GRCm39) |
K445E |
possibly damaging |
Het |
| Cfap46 |
A |
G |
7: 139,191,947 (GRCm39) |
S2357P |
probably damaging |
Het |
| Commd4 |
A |
T |
9: 57,063,499 (GRCm39) |
S86R |
possibly damaging |
Het |
| Cpsf6 |
A |
T |
10: 117,196,934 (GRCm39) |
|
probably benign |
Het |
| Dag1 |
A |
T |
9: 108,086,646 (GRCm39) |
V165E |
probably benign |
Het |
| Dmxl1 |
A |
T |
18: 50,065,008 (GRCm39) |
K2618* |
probably null |
Het |
| Dnah17 |
A |
G |
11: 117,991,882 (GRCm39) |
Y1229H |
probably benign |
Het |
| Endov |
T |
A |
11: 119,382,625 (GRCm39) |
L24Q |
probably damaging |
Het |
| Fap |
C |
T |
2: 62,332,803 (GRCm39) |
V717M |
probably damaging |
Het |
| Fbxl2 |
A |
G |
9: 113,815,546 (GRCm39) |
L239P |
probably damaging |
Het |
| Fbxl5 |
A |
T |
5: 43,916,182 (GRCm39) |
V367D |
possibly damaging |
Het |
| Fkbp10 |
G |
T |
11: 100,314,352 (GRCm39) |
W384L |
probably damaging |
Het |
| Gbp8 |
C |
T |
5: 105,166,682 (GRCm39) |
V216I |
possibly damaging |
Het |
| Gclm |
G |
A |
3: 122,059,936 (GRCm39) |
A239T |
probably benign |
Het |
| Gm11569 |
C |
T |
11: 99,689,556 (GRCm39) |
|
probably benign |
Het |
| Gnas |
C |
A |
2: 174,141,468 (GRCm39) |
|
probably benign |
Het |
| Grb10 |
T |
A |
11: 11,883,566 (GRCm39) |
N508I |
probably benign |
Het |
| Gykl1 |
T |
G |
18: 52,827,267 (GRCm39) |
I158M |
probably benign |
Het |
| Ide |
G |
A |
19: 37,295,420 (GRCm39) |
T214M |
unknown |
Het |
| Il12rb2 |
T |
A |
6: 67,272,262 (GRCm39) |
Q341H |
possibly damaging |
Het |
| Ints1 |
T |
C |
5: 139,740,744 (GRCm39) |
E1946G |
probably benign |
Het |
| Kdelr3 |
T |
C |
15: 79,410,100 (GRCm39) |
|
probably null |
Het |
| Kif1b |
A |
C |
4: 149,358,306 (GRCm39) |
|
probably null |
Het |
| Kri1 |
A |
G |
9: 21,191,533 (GRCm39) |
I320T |
probably damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Lin9 |
T |
C |
1: 180,486,646 (GRCm39) |
S111P |
probably benign |
Het |
| Lpcat2b |
C |
A |
5: 107,580,773 (GRCm39) |
P34Q |
probably damaging |
Het |
| Ltk |
T |
A |
2: 119,590,080 (GRCm39) |
T49S |
probably benign |
Het |
| Map3k9 |
A |
T |
12: 81,780,896 (GRCm39) |
H421Q |
probably benign |
Het |
| Mapkbp1 |
T |
A |
2: 119,852,201 (GRCm39) |
|
probably null |
Het |
| Mcm4 |
A |
G |
16: 15,443,434 (GRCm39) |
S830P |
probably damaging |
Het |
| Nek10 |
T |
A |
14: 14,860,736 (GRCm38) |
|
probably null |
Het |
| Nlrp9b |
A |
T |
7: 19,758,417 (GRCm39) |
R551S |
probably benign |
Het |
| Nol4l |
T |
C |
2: 153,260,026 (GRCm39) |
T143A |
probably damaging |
Het |
| Or1r1 |
T |
C |
11: 73,875,362 (GRCm39) |
H24R |
possibly damaging |
Het |
| Or51g1 |
T |
A |
7: 102,633,748 (GRCm39) |
T208S |
probably benign |
Het |
| Or6z5 |
T |
C |
7: 6,477,742 (GRCm39) |
|
probably null |
Het |
| Or7a39 |
A |
T |
10: 78,715,919 (GRCm39) |
R304S |
probably benign |
Het |
| Pde4dip |
G |
T |
3: 97,616,806 (GRCm39) |
A1812D |
probably damaging |
Het |
| Plekhb1 |
C |
A |
7: 100,305,960 (GRCm39) |
G26C |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,906,410 (GRCm39) |
F409I |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,702,625 (GRCm39) |
M1197K |
probably benign |
Het |
| Qrich2 |
T |
C |
11: 116,335,828 (GRCm39) |
I2114V |
probably damaging |
Het |
| Rbm27 |
T |
C |
18: 42,450,731 (GRCm39) |
Y449H |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,267,195 (GRCm39) |
D927G |
probably damaging |
Het |
| Secisbp2 |
C |
A |
13: 51,833,857 (GRCm39) |
Q666K |
probably damaging |
Het |
| Slc45a2 |
T |
C |
15: 11,001,219 (GRCm39) |
I106T |
probably damaging |
Het |
| Slx4 |
G |
T |
16: 3,797,831 (GRCm39) |
Q1518K |
probably damaging |
Het |
| Smim10l1 |
T |
C |
6: 133,082,489 (GRCm39) |
F12S |
probably damaging |
Het |
| Son |
T |
C |
16: 91,468,301 (GRCm39) |
V306A |
possibly damaging |
Het |
| Stab1 |
A |
G |
14: 30,882,178 (GRCm39) |
S506P |
probably benign |
Het |
| Syne2 |
A |
C |
12: 76,040,919 (GRCm39) |
D3859A |
probably benign |
Het |
| Tab1 |
T |
A |
15: 80,032,930 (GRCm39) |
Y71* |
probably null |
Het |
| Tarbp1 |
A |
C |
8: 127,174,079 (GRCm39) |
M909R |
probably damaging |
Het |
| Tex15 |
T |
G |
8: 34,063,220 (GRCm39) |
S1157R |
probably benign |
Het |
| Tnni3 |
G |
A |
7: 4,523,453 (GRCm39) |
T120I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,747,888 (GRCm39) |
E4387G |
probably benign |
Het |
| Unc5d |
T |
C |
8: 29,156,870 (GRCm39) |
I783V |
probably benign |
Het |
| Usp40 |
T |
C |
1: 87,923,474 (GRCm39) |
T266A |
probably benign |
Het |
| Vmn2r59 |
C |
T |
7: 41,695,468 (GRCm39) |
V315I |
probably benign |
Het |
| Zbtb48 |
G |
T |
4: 152,105,067 (GRCm39) |
H532N |
probably damaging |
Het |
| Zfp1005 |
C |
T |
2: 150,111,394 (GRCm39) |
H695Y |
possibly damaging |
Het |
|
| Other mutations in Ugt3a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00912:Ugt3a1
|
APN |
15 |
9,310,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01109:Ugt3a1
|
APN |
15 |
9,367,354 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01131:Ugt3a1
|
APN |
15 |
9,365,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01627:Ugt3a1
|
APN |
15 |
9,335,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01746:Ugt3a1
|
APN |
15 |
9,361,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01752:Ugt3a1
|
APN |
15 |
9,306,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01949:Ugt3a1
|
APN |
15 |
9,335,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02213:Ugt3a1
|
APN |
15 |
9,370,310 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02407:Ugt3a1
|
APN |
15 |
9,365,316 (GRCm39) |
nonsense |
probably null |
|
|
IGL02438:Ugt3a1
|
APN |
15 |
9,292,062 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02588:Ugt3a1
|
APN |
15 |
9,361,542 (GRCm39) |
missense |
probably benign |
|
|
IGL02894:Ugt3a1
|
APN |
15 |
9,367,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02966:Ugt3a1
|
APN |
15 |
9,370,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03385:Ugt3a1
|
APN |
15 |
9,338,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03493:Ugt3a1
|
APN |
15 |
9,361,569 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT4354001:Ugt3a1
|
UTSW |
15 |
9,306,446 (GRCm39) |
nonsense |
probably null |
|
|
R0127:Ugt3a1
|
UTSW |
15 |
9,306,342 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0554:Ugt3a1
|
UTSW |
15 |
9,351,206 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0647:Ugt3a1
|
UTSW |
15 |
9,310,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0833:Ugt3a1
|
UTSW |
15 |
9,370,236 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0841:Ugt3a1
|
UTSW |
15 |
9,306,214 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1071:Ugt3a1
|
UTSW |
15 |
9,367,454 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1395:Ugt3a1
|
UTSW |
15 |
9,306,378 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1513:Ugt3a1
|
UTSW |
15 |
9,361,610 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1616:Ugt3a1
|
UTSW |
15 |
9,306,330 (GRCm39) |
nonsense |
probably null |
|
|
R1844:Ugt3a1
|
UTSW |
15 |
9,351,254 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1874:Ugt3a1
|
UTSW |
15 |
9,365,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2305:Ugt3a1
|
UTSW |
15 |
9,351,203 (GRCm39) |
missense |
probably benign |
|
|
R2338:Ugt3a1
|
UTSW |
15 |
9,292,059 (GRCm39) |
splice site |
probably benign |
|
|
R3052:Ugt3a1
|
UTSW |
15 |
9,365,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3755:Ugt3a1
|
UTSW |
15 |
9,367,498 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3797:Ugt3a1
|
UTSW |
15 |
9,310,727 (GRCm39) |
nonsense |
probably null |
|
|
R3945:Ugt3a1
|
UTSW |
15 |
9,370,184 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4135:Ugt3a1
|
UTSW |
15 |
9,338,810 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4261:Ugt3a1
|
UTSW |
15 |
9,335,879 (GRCm39) |
splice site |
probably null |
|
|
R4305:Ugt3a1
|
UTSW |
15 |
9,306,360 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4385:Ugt3a1
|
UTSW |
15 |
9,306,565 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4438:Ugt3a1
|
UTSW |
15 |
9,351,283 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4570:Ugt3a1
|
UTSW |
15 |
9,338,807 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4572:Ugt3a1
|
UTSW |
15 |
9,306,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4611:Ugt3a1
|
UTSW |
15 |
9,306,486 (GRCm39) |
nonsense |
probably null |
|
|
R4744:Ugt3a1
|
UTSW |
15 |
9,310,639 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4791:Ugt3a1
|
UTSW |
15 |
9,361,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Ugt3a1
|
UTSW |
15 |
9,365,274 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5011:Ugt3a1
|
UTSW |
15 |
9,365,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5035:Ugt3a1
|
UTSW |
15 |
9,361,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5554:Ugt3a1
|
UTSW |
15 |
9,370,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5573:Ugt3a1
|
UTSW |
15 |
9,361,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5631:Ugt3a1
|
UTSW |
15 |
9,361,971 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5715:Ugt3a1
|
UTSW |
15 |
9,306,430 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6036:Ugt3a1
|
UTSW |
15 |
9,306,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6036:Ugt3a1
|
UTSW |
15 |
9,306,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6156:Ugt3a1
|
UTSW |
15 |
9,310,762 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6228:Ugt3a1
|
UTSW |
15 |
9,310,726 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6265:Ugt3a1
|
UTSW |
15 |
9,361,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6302:Ugt3a1
|
UTSW |
15 |
9,365,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6311:Ugt3a1
|
UTSW |
15 |
9,361,604 (GRCm39) |
nonsense |
probably null |
|
|
R6344:Ugt3a1
|
UTSW |
15 |
9,306,317 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6380:Ugt3a1
|
UTSW |
15 |
9,306,541 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6383:Ugt3a1
|
UTSW |
15 |
9,306,541 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6680:Ugt3a1
|
UTSW |
15 |
9,370,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6737:Ugt3a1
|
UTSW |
15 |
9,311,895 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6848:Ugt3a1
|
UTSW |
15 |
9,280,138 (GRCm39) |
splice site |
probably null |
|
|
R6937:Ugt3a1
|
UTSW |
15 |
9,292,158 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7061:Ugt3a1
|
UTSW |
15 |
9,306,240 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7672:Ugt3a1
|
UTSW |
15 |
9,310,779 (GRCm39) |
nonsense |
probably null |
|
|
R7840:Ugt3a1
|
UTSW |
15 |
9,311,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7945:Ugt3a1
|
UTSW |
15 |
9,284,261 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8105:Ugt3a1
|
UTSW |
15 |
9,306,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8229:Ugt3a1
|
UTSW |
15 |
9,367,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8296:Ugt3a1
|
UTSW |
15 |
9,362,024 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8414:Ugt3a1
|
UTSW |
15 |
9,310,669 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8809:Ugt3a1
|
UTSW |
15 |
9,367,345 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8981:Ugt3a1
|
UTSW |
15 |
9,312,014 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9066:Ugt3a1
|
UTSW |
15 |
9,367,384 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9071:Ugt3a1
|
UTSW |
15 |
9,370,224 (GRCm39) |
nonsense |
probably null |
|
|
R9111:Ugt3a1
|
UTSW |
15 |
9,306,333 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9151:Ugt3a1
|
UTSW |
15 |
9,362,051 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9451:Ugt3a1
|
UTSW |
15 |
9,292,158 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9522:Ugt3a1
|
UTSW |
15 |
9,370,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9567:Ugt3a1
|
UTSW |
15 |
9,306,370 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9609:Ugt3a1
|
UTSW |
15 |
9,361,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9657:Ugt3a1
|
UTSW |
15 |
9,280,133 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Ugt3a1
|
UTSW |
15 |
9,367,343 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAGAAAATTGTCATCTTTCCTGAGC -3'
(R):5'- CAAATCGTTTCCCAAGCTTTTCAAC -3'
Sequencing Primer
(F):5'- GTCATCTTTCCTGAGCTTGTTCAAC -3'
(R):5'- TCCCAAGCTTTTCAACAATTAGC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation