Incidental Mutation 'R9567:Ugt3a1'
ID |
721716 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt3a1
|
Ensembl Gene |
ENSMUSG00000072664 |
Gene Name |
UDP glycosyltransferases 3 family, polypeptide A1 |
Synonyms |
Ugt3a2 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R9567 (G1)
|
Quality Score |
163.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
9335670-9370960 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 9306370 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 173
(D173G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022861
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022861]
|
AlphaFold |
Q3UP75 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022861
AA Change: D173G
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000022861 Gene: ENSMUSG00000072664 AA Change: D173G
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: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
C |
T |
13: 119,602,793 (GRCm39) |
P52S |
probably damaging |
Het |
6820408C15Rik |
C |
A |
2: 152,270,867 (GRCm39) |
P30Q |
probably damaging |
Het |
Adam18 |
C |
T |
8: 25,118,210 (GRCm39) |
V569I |
probably benign |
Het |
Adnp2 |
A |
T |
18: 80,174,133 (GRCm39) |
L92Q |
probably damaging |
Het |
Ahi1 |
C |
T |
10: 20,857,300 (GRCm39) |
H632Y |
possibly damaging |
Het |
Akap9 |
A |
G |
5: 4,127,311 (GRCm39) |
N3720D |
possibly damaging |
Het |
Alpk3 |
T |
C |
7: 80,742,687 (GRCm39) |
S835P |
possibly damaging |
Het |
Amer3 |
C |
T |
1: 34,627,836 (GRCm39) |
L692F |
probably benign |
Het |
Anks6 |
T |
A |
4: 47,044,880 (GRCm39) |
D342V |
unknown |
Het |
Arap2 |
G |
T |
5: 62,761,841 (GRCm39) |
F1628L |
probably benign |
Het |
Arhgap21 |
T |
G |
2: 20,896,953 (GRCm39) |
I108L |
possibly damaging |
Het |
Cacna1h |
T |
C |
17: 25,612,487 (GRCm39) |
I404V |
probably damaging |
Het |
Cacna2d3 |
G |
T |
14: 28,627,268 (GRCm39) |
A1077E |
probably benign |
Het |
Cacng6 |
T |
C |
7: 3,483,281 (GRCm39) |
V203A |
probably benign |
Het |
Clec1b |
A |
T |
6: 129,382,201 (GRCm39) |
D226V |
possibly damaging |
Het |
Crb1 |
A |
C |
1: 139,171,208 (GRCm39) |
S727R |
probably benign |
Het |
Dars1 |
T |
C |
1: 128,343,112 (GRCm39) |
I35V |
|
Het |
Ddo |
T |
A |
10: 40,523,913 (GRCm39) |
V301D |
probably damaging |
Het |
Diablo |
C |
A |
5: 123,662,196 (GRCm39) |
|
probably benign |
Het |
Dipk1a |
T |
A |
5: 108,057,368 (GRCm39) |
K397* |
probably null |
Het |
Dnhd1 |
C |
A |
7: 105,353,473 (GRCm39) |
H2875Q |
probably benign |
Het |
E230025N22Rik |
A |
G |
18: 36,820,336 (GRCm39) |
L282P |
|
Het |
Ebna1bp2 |
A |
G |
4: 118,478,190 (GRCm39) |
Q21R |
probably benign |
Het |
Exoc7 |
C |
T |
11: 116,195,724 (GRCm39) |
V93I |
probably benign |
Het |
Foxk1 |
T |
A |
5: 142,387,713 (GRCm39) |
Y145* |
probably null |
Het |
Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
Fsip2 |
C |
T |
2: 82,798,173 (GRCm39) |
T489M |
probably benign |
Het |
Gbf1 |
C |
T |
19: 46,260,046 (GRCm39) |
T1067I |
|
Het |
Ggta1 |
T |
A |
2: 35,313,333 (GRCm39) |
T3S |
possibly damaging |
Het |
Guf1 |
T |
A |
5: 69,721,951 (GRCm39) |
V370E |
possibly damaging |
Het |
Hmg20a |
A |
G |
9: 56,384,472 (GRCm39) |
S81G |
probably benign |
Het |
Igf2r |
G |
A |
17: 12,905,641 (GRCm39) |
T2230I |
probably damaging |
Het |
Ighmbp2 |
A |
T |
19: 3,332,785 (GRCm39) |
M1K |
probably null |
Het |
Klhdc9 |
T |
C |
1: 171,187,914 (GRCm39) |
T106A |
probably benign |
Het |
Kti12 |
T |
C |
4: 108,705,935 (GRCm39) |
M283T |
possibly damaging |
Het |
Lrig3 |
C |
T |
10: 125,845,964 (GRCm39) |
P798S |
probably benign |
Het |
Lrp8 |
T |
C |
4: 107,711,469 (GRCm39) |
F333L |
probably damaging |
Het |
Lyn |
T |
A |
4: 3,746,757 (GRCm39) |
D178E |
probably benign |
Het |
Magi1 |
G |
A |
6: 93,655,431 (GRCm39) |
A1405V |
probably damaging |
Het |
Magi1 |
A |
C |
6: 93,659,931 (GRCm39) |
|
probably null |
Het |
Mdga1 |
G |
A |
17: 30,076,569 (GRCm39) |
P68S |
probably damaging |
Het |
Mfsd8 |
T |
C |
3: 40,793,933 (GRCm39) |
S25G |
probably benign |
Het |
Mgat1 |
C |
A |
11: 49,152,694 (GRCm39) |
S392R |
probably benign |
Het |
Mtmr2 |
C |
T |
9: 13,713,301 (GRCm39) |
Q493* |
probably null |
Het |
Myocd |
A |
T |
11: 65,078,410 (GRCm39) |
S462T |
probably damaging |
Het |
Ndnf |
A |
G |
6: 65,681,164 (GRCm39) |
Y481C |
probably damaging |
Het |
Neb |
G |
T |
2: 52,065,138 (GRCm39) |
R6258S |
probably damaging |
Het |
Nlrp4c |
A |
G |
7: 6,063,624 (GRCm39) |
M11V |
probably benign |
Het |
Nup93 |
T |
C |
8: 95,035,604 (GRCm39) |
S658P |
possibly damaging |
Het |
Obox2 |
T |
A |
7: 15,130,771 (GRCm39) |
M1K |
probably null |
Het |
Or10ag55-ps1 |
T |
A |
2: 87,115,037 (GRCm39) |
Y134* |
probably null |
Het |
Or10g9 |
T |
A |
9: 39,912,367 (GRCm39) |
H52L |
possibly damaging |
Het |
Or1e20-ps1 |
G |
T |
11: 73,324,789 (GRCm39) |
H88N |
unknown |
Het |
Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
Pcdh18 |
T |
A |
3: 49,710,884 (GRCm39) |
I144F |
possibly damaging |
Het |
Pcdhgb5 |
C |
T |
18: 37,864,982 (GRCm39) |
T259I |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,763,436 (GRCm39) |
T685A |
|
Het |
Pecam1 |
T |
C |
11: 106,588,121 (GRCm39) |
T139A |
possibly damaging |
Het |
Pi15 |
T |
A |
1: 17,695,178 (GRCm39) |
L265Q |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,394,173 (GRCm39) |
F2053L |
probably damaging |
Het |
Ppp1r36 |
A |
G |
12: 76,485,900 (GRCm39) |
I353V |
probably benign |
Het |
Ppp1r9a |
A |
G |
6: 5,157,004 (GRCm39) |
S961G |
probably benign |
Het |
Rbm42 |
T |
C |
7: 30,345,395 (GRCm39) |
R151G |
possibly damaging |
Het |
Rnf224 |
T |
C |
2: 25,126,354 (GRCm39) |
|
probably benign |
Het |
Scn2a |
C |
T |
2: 65,518,974 (GRCm39) |
T400I |
probably damaging |
Het |
Slc17a5 |
T |
A |
9: 78,445,562 (GRCm39) |
Q457L |
possibly damaging |
Het |
Slc5a4a |
A |
T |
10: 76,022,396 (GRCm39) |
D577V |
probably benign |
Het |
Stim2 |
A |
G |
5: 54,232,707 (GRCm39) |
D123G |
probably damaging |
Het |
Stxbp5l |
A |
G |
16: 37,061,734 (GRCm39) |
F359L |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,196,386 (GRCm39) |
D3882G |
possibly damaging |
Het |
Synj1 |
G |
T |
16: 90,790,912 (GRCm39) |
S83Y |
possibly damaging |
Het |
Tfip11 |
C |
T |
5: 112,479,029 (GRCm39) |
T199I |
probably damaging |
Het |
Thoc2l |
T |
A |
5: 104,669,644 (GRCm39) |
S1389T |
probably benign |
Het |
Tiam1 |
T |
A |
16: 89,591,653 (GRCm39) |
D1349V |
probably damaging |
Het |
Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
Ucn3 |
T |
A |
13: 3,991,313 (GRCm39) |
D113V |
probably damaging |
Het |
Uimc1 |
C |
A |
13: 55,188,427 (GRCm39) |
R544L |
possibly damaging |
Het |
Unc13c |
T |
C |
9: 73,536,485 (GRCm39) |
S1623G |
probably damaging |
Het |
Vmn2r41 |
T |
C |
7: 8,141,391 (GRCm39) |
N691S |
probably benign |
Het |
Wdr24 |
T |
A |
17: 26,043,190 (GRCm39) |
M4K |
probably damaging |
Het |
Wdr48 |
T |
C |
9: 119,741,454 (GRCm39) |
F332L |
probably benign |
Het |
Xpo7 |
A |
G |
14: 70,903,466 (GRCm39) |
V1080A |
probably benign |
Het |
Zc3h3 |
A |
T |
15: 75,651,261 (GRCm39) |
I653N |
probably damaging |
Het |
Zfp1005 |
A |
T |
2: 150,109,517 (GRCm39) |
H69L |
possibly damaging |
Het |
Zfp362 |
T |
A |
4: 128,688,681 (GRCm39) |
M1L |
unknown |
Het |
Zfp503 |
A |
G |
14: 22,036,041 (GRCm39) |
C292R |
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 |
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 |
|
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 |
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'- TCAATACTTTGCGGACTTATGC -3'
(R):5'- ACAGCTCAGCTTTCAGTAGAAG -3'
Sequencing Primer
(F):5'- TGCAGTCACTTATTAAGCAGAAAGG -3'
(R):5'- CTCAGCTTTCAGTAGAAGGTCAGAC -3'
|
Posted On |
2022-08-09 |