Incidental Mutation 'R7840:Ugt3a1'
| ID |
606248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt3a1
|
| Ensembl Gene |
ENSMUSG00000072664 |
| Gene Name |
UDP glycosyltransferases 3 family, polypeptide A1 |
| Synonyms |
Ugt3a2 |
| MMRRC Submission |
045894-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R7840 (G1)
|
| Quality Score |
216.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
9335670-9370960 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 9311903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 382
(G382R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022861]
|
| AlphaFold |
Q3UP75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022861
AA Change: G382R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664
AA Change: G382R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
23 |
521 |
1.4e-98 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
300 |
451 |
3.7e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (73/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,074,689 (GRCm39) |
N577S |
probably benign |
Het |
| Ang4 |
A |
G |
14: 52,001,529 (GRCm39) |
S140P |
probably damaging |
Het |
| Ankdd1b |
T |
C |
13: 96,556,306 (GRCm39) |
|
probably null |
Het |
| Anln |
G |
T |
9: 22,274,019 (GRCm39) |
A606D |
probably benign |
Het |
| Ano5 |
T |
G |
7: 51,237,480 (GRCm39) |
V768G |
possibly damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,900,461 (GRCm39) |
Y275F |
possibly damaging |
Het |
| Chpf |
T |
C |
1: 75,453,271 (GRCm39) |
Y334C |
probably damaging |
Het |
| Chrdl2 |
T |
C |
7: 99,682,863 (GRCm39) |
L381S |
probably damaging |
Het |
| Cibar2 |
T |
C |
8: 120,893,372 (GRCm39) |
D273G |
probably benign |
Het |
| Cox20 |
A |
T |
1: 178,150,126 (GRCm39) |
Y100F |
probably benign |
Het |
| Dbn1 |
T |
C |
13: 55,623,322 (GRCm39) |
D433G |
possibly damaging |
Het |
| Dclre1a |
A |
T |
19: 56,519,684 (GRCm39) |
I983N |
probably damaging |
Het |
| Dok6 |
A |
T |
18: 89,578,182 (GRCm39) |
H78Q |
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,624,539 (GRCm39) |
D878N |
probably benign |
Het |
| Fpr1 |
A |
T |
17: 18,097,634 (GRCm39) |
F118L |
probably benign |
Het |
| Fscn3 |
A |
G |
6: 28,430,175 (GRCm39) |
Y115C |
probably damaging |
Het |
| Gabra4 |
A |
C |
5: 71,798,256 (GRCm39) |
|
probably null |
Het |
| Gm45861 |
T |
C |
8: 28,072,751 (GRCm39) |
V1290A |
unknown |
Het |
| Hivep1 |
T |
C |
13: 42,308,828 (GRCm39) |
V356A |
probably benign |
Het |
| Ikbip |
T |
C |
10: 90,937,617 (GRCm39) |
Y97H |
possibly damaging |
Het |
| Il10 |
A |
G |
1: 130,947,805 (GRCm39) |
T53A |
probably benign |
Het |
| Inpp5f |
T |
C |
7: 128,296,526 (GRCm39) |
V959A |
probably benign |
Het |
| Insr |
T |
C |
8: 3,308,415 (GRCm39) |
E207G |
probably benign |
Het |
| Kndc1 |
T |
A |
7: 139,503,731 (GRCm39) |
S1012T |
probably damaging |
Het |
| Krtap5-1 |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
7: 141,850,333 (GRCm39) |
|
probably benign |
Het |
| Ksr2 |
T |
C |
5: 117,693,329 (GRCm39) |
V259A |
probably benign |
Het |
| Lox |
A |
T |
18: 52,658,194 (GRCm39) |
Y326* |
probably null |
Het |
| Lpin2 |
C |
A |
17: 71,537,269 (GRCm39) |
T272N |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,295,128 (GRCm39) |
E3397K |
probably damaging |
Het |
| Megf11 |
G |
A |
9: 64,602,709 (GRCm39) |
C850Y |
possibly damaging |
Het |
| Morc1 |
T |
C |
16: 48,319,147 (GRCm39) |
F284L |
probably benign |
Het |
| Moxd2 |
T |
A |
6: 40,862,378 (GRCm39) |
D147V |
possibly damaging |
Het |
| Mrpl21 |
T |
C |
19: 3,337,752 (GRCm39) |
L153P |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,280,917 (GRCm39) |
T1432A |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,451,979 (GRCm39) |
D211V |
probably damaging |
Het |
| Ncoa5 |
T |
C |
2: 164,854,816 (GRCm39) |
H102R |
possibly damaging |
Het |
| Ndel1 |
A |
T |
11: 68,720,806 (GRCm39) |
C293* |
probably null |
Het |
| Ninl |
A |
T |
2: 150,808,016 (GRCm39) |
M82K |
probably benign |
Het |
| Nrcam |
G |
A |
12: 44,587,858 (GRCm39) |
|
probably null |
Het |
| Nup210l |
A |
T |
3: 90,030,036 (GRCm39) |
I250L |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,968,776 (GRCm39) |
E2532G |
possibly damaging |
Het |
| Or1e1 |
C |
A |
11: 73,244,585 (GRCm39) |
A2E |
probably benign |
Het |
| Or5v1 |
G |
T |
17: 37,809,868 (GRCm39) |
G109C |
probably damaging |
Het |
| Or8j3c |
A |
G |
2: 86,253,583 (GRCm39) |
F146L |
probably benign |
Het |
| Osgin1 |
G |
A |
8: 120,171,773 (GRCm39) |
S189N |
possibly damaging |
Het |
| Otud7b |
A |
G |
3: 96,062,690 (GRCm39) |
E643G |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,571,727 (GRCm39) |
T1222S |
probably damaging |
Het |
| Pwp1 |
C |
T |
10: 85,723,914 (GRCm39) |
R472W |
probably damaging |
Het |
| Rad21 |
T |
C |
15: 51,836,538 (GRCm39) |
Y211C |
probably damaging |
Het |
| Rexo1 |
A |
G |
10: 80,386,572 (GRCm39) |
V162A |
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,560,589 (GRCm39) |
V417I |
probably benign |
Het |
| Setbp1 |
G |
A |
18: 78,826,639 (GRCm39) |
P1325S |
probably benign |
Het |
| Shld1 |
A |
G |
2: 132,592,510 (GRCm39) |
T186A |
probably damaging |
Het |
| Shld2 |
A |
G |
14: 33,959,523 (GRCm39) |
Y820H |
probably damaging |
Het |
| Skint7 |
G |
T |
4: 111,839,423 (GRCm39) |
C239F |
probably benign |
Het |
| Slc25a1 |
A |
G |
16: 17,744,138 (GRCm39) |
L221P |
probably benign |
Het |
| Snrnp70 |
T |
A |
7: 45,026,214 (GRCm39) |
D385V |
unknown |
Het |
| Sp7 |
A |
C |
15: 102,267,533 (GRCm39) |
V109G |
probably benign |
Het |
| Syne1 |
A |
T |
10: 5,082,078 (GRCm39) |
Y849N |
probably damaging |
Het |
| Tas2r108 |
T |
C |
6: 40,470,790 (GRCm39) |
F89L |
possibly damaging |
Het |
| Tcf3 |
C |
T |
10: 80,246,301 (GRCm39) |
A581T |
possibly damaging |
Het |
| Tcta |
A |
G |
9: 108,182,986 (GRCm39) |
L53P |
probably damaging |
Het |
| Traf3ip2 |
C |
G |
10: 39,502,451 (GRCm39) |
Q200E |
probably damaging |
Het |
| Trgc1 |
A |
T |
13: 19,400,691 (GRCm39) |
Y140F |
|
Het |
| Tyk2 |
A |
T |
9: 21,036,263 (GRCm39) |
C75S |
probably damaging |
Het |
| Upp2 |
G |
T |
2: 58,664,127 (GRCm39) |
|
probably null |
Het |
| Vmn1r212 |
A |
T |
13: 23,067,323 (GRCm39) |
F337I |
unknown |
Het |
| Vmn1r58 |
T |
C |
7: 5,414,242 (GRCm39) |
|
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,830,246 (GRCm39) |
V2856D |
|
Het |
| Wdr37 |
A |
C |
13: 8,886,911 (GRCm39) |
L292R |
probably damaging |
Het |
| Yipf3 |
T |
C |
17: 46,561,790 (GRCm39) |
I199T |
probably benign |
Het |
| Zdhhc23 |
A |
G |
16: 43,791,907 (GRCm39) |
S289P |
possibly damaging |
Het |
| Zfp229 |
A |
T |
17: 21,965,131 (GRCm39) |
K454* |
probably null |
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 |
|
R5696:Ugt3a1
|
UTSW |
15 |
9,361,534 (GRCm39) |
splice site |
silent |
|
|
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 |
|
|
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'- CCATTTTCTGTAGCACATGGG -3'
(R):5'- AAGAAGGACCTTCAAGGCCC -3'
Sequencing Primer
(F):5'- AGCACATGGGTATTTCATGGGTCTAC -3'
(R):5'- AGGCCTGCATTTAGCCTACAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation