Incidental Mutation 'R6156:Ugt3a1'
ID |
489613 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt3a1
|
Ensembl Gene |
ENSMUSG00000072664 |
Gene Name |
UDP glycosyltransferases 3 family, polypeptide A1 |
Synonyms |
Ugt3a2 |
MMRRC Submission |
044303-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R6156 (G1)
|
Quality Score |
157.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
9335670-9370960 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 9310762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 348
(I348T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022861
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022861]
|
AlphaFold |
Q3UP75 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022861
AA Change: I348T
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000022861 Gene: ENSMUSG00000072664 AA Change: I348T
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145326
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175695
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176173
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
Validation Efficiency |
97% (68/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
T |
G |
15: 64,689,488 (GRCm39) |
|
probably null |
Het |
Ank2 |
T |
C |
3: 126,737,886 (GRCm39) |
D2579G |
probably damaging |
Het |
Atp6v1b1 |
G |
C |
6: 83,735,115 (GRCm39) |
G423R |
probably damaging |
Het |
B4galnt3 |
T |
C |
6: 120,191,801 (GRCm39) |
N644S |
probably benign |
Het |
Bhmt1b |
C |
A |
18: 87,775,231 (GRCm39) |
Y251* |
probably null |
Het |
Capsl |
T |
G |
15: 9,465,920 (GRCm39) |
M132R |
probably damaging |
Het |
Cep120 |
A |
G |
18: 53,836,295 (GRCm39) |
Y797H |
probably benign |
Het |
Cimip4 |
T |
C |
15: 78,263,013 (GRCm39) |
T214A |
probably damaging |
Het |
Clec2e |
T |
A |
6: 129,072,061 (GRCm39) |
D106V |
possibly damaging |
Het |
Col6a2 |
C |
T |
10: 76,440,004 (GRCm39) |
V634I |
possibly damaging |
Het |
Dis3 |
T |
C |
14: 99,336,215 (GRCm39) |
E97G |
probably benign |
Het |
Dlec1 |
T |
C |
9: 118,939,281 (GRCm39) |
|
probably null |
Het |
Dock2 |
C |
A |
11: 34,197,789 (GRCm39) |
V1484F |
possibly damaging |
Het |
Ephb2 |
T |
A |
4: 136,388,816 (GRCm39) |
M593L |
probably benign |
Het |
Fcgrt |
T |
C |
7: 44,751,484 (GRCm39) |
T125A |
probably benign |
Het |
Gabbr1 |
T |
C |
17: 37,359,319 (GRCm39) |
I98T |
probably benign |
Het |
Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
Gfod1 |
T |
C |
13: 43,354,514 (GRCm39) |
S154G |
possibly damaging |
Het |
Ggt5 |
C |
T |
10: 75,445,160 (GRCm39) |
T389I |
probably damaging |
Het |
Got2 |
A |
G |
8: 96,598,896 (GRCm39) |
F169L |
probably benign |
Het |
Gse1 |
A |
G |
8: 121,215,866 (GRCm39) |
K5E |
possibly damaging |
Het |
Hyal5 |
T |
C |
6: 24,891,437 (GRCm39) |
I417T |
possibly damaging |
Het |
Igkv4-91 |
G |
T |
6: 68,745,607 (GRCm39) |
T97K |
probably damaging |
Het |
Il4i1 |
T |
C |
7: 44,489,608 (GRCm39) |
Y458H |
possibly damaging |
Het |
Impg1 |
A |
T |
9: 80,230,106 (GRCm39) |
C740S |
probably damaging |
Het |
Itgb1 |
C |
G |
8: 129,458,535 (GRCm39) |
T788R |
possibly damaging |
Het |
Lman2l |
A |
G |
1: 36,477,907 (GRCm39) |
V143A |
probably damaging |
Het |
Ltbp4 |
G |
T |
7: 27,029,587 (GRCm39) |
T136K |
unknown |
Het |
Macf1 |
A |
G |
4: 123,366,073 (GRCm39) |
I1331T |
probably benign |
Het |
Mmp11 |
G |
A |
10: 75,762,325 (GRCm39) |
A336V |
probably damaging |
Het |
Myh2 |
A |
T |
11: 67,071,879 (GRCm39) |
I536F |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,141,618 (GRCm39) |
M826V |
probably benign |
Het |
Naca |
T |
C |
10: 127,875,160 (GRCm39) |
|
probably benign |
Het |
Nr4a2 |
A |
G |
2: 57,002,364 (GRCm39) |
Y30H |
probably damaging |
Het |
Or12j4 |
A |
G |
7: 140,046,758 (GRCm39) |
T215A |
probably benign |
Het |
Or1e35 |
A |
T |
11: 73,797,447 (GRCm39) |
Y290* |
probably null |
Het |
Or2n1d |
T |
A |
17: 38,646,064 (GRCm39) |
N5K |
probably damaging |
Het |
Or4a67 |
T |
A |
2: 88,597,934 (GRCm39) |
I242L |
probably benign |
Het |
Or4f14d |
A |
T |
2: 111,960,445 (GRCm39) |
L237Q |
probably damaging |
Het |
Or4k42 |
A |
T |
2: 111,320,095 (GRCm39) |
M136K |
probably damaging |
Het |
Or4z4 |
A |
G |
19: 12,076,484 (GRCm39) |
V173A |
possibly damaging |
Het |
Or8g22 |
T |
A |
9: 38,958,671 (GRCm39) |
M15L |
possibly damaging |
Het |
Paqr3 |
A |
C |
5: 97,256,128 (GRCm39) |
L82R |
probably damaging |
Het |
Pex6 |
C |
T |
17: 47,031,567 (GRCm39) |
P456S |
probably benign |
Het |
Pih1d2 |
A |
T |
9: 50,532,452 (GRCm39) |
K186I |
possibly damaging |
Het |
Plekhh3 |
A |
G |
11: 101,061,013 (GRCm39) |
|
probably benign |
Het |
Ptpn23 |
C |
A |
9: 110,216,849 (GRCm39) |
|
probably benign |
Het |
Rcor3 |
T |
A |
1: 191,812,142 (GRCm39) |
|
probably benign |
Het |
Rgs11 |
T |
A |
17: 26,429,439 (GRCm39) |
Y403* |
probably null |
Het |
Scn10a |
T |
C |
9: 119,464,649 (GRCm39) |
N984D |
probably benign |
Het |
Snx14 |
C |
T |
9: 88,289,392 (GRCm39) |
A287T |
possibly damaging |
Het |
Stx3 |
T |
C |
19: 11,780,874 (GRCm39) |
D33G |
probably damaging |
Het |
Tacc2 |
A |
G |
7: 130,227,494 (GRCm39) |
K1393R |
probably damaging |
Het |
Tas2r129 |
T |
C |
6: 132,928,455 (GRCm39) |
S131P |
probably benign |
Het |
Tbx15 |
G |
T |
3: 99,220,431 (GRCm39) |
|
probably null |
Het |
Thada |
A |
G |
17: 84,700,795 (GRCm39) |
V1237A |
probably damaging |
Het |
Tnc |
A |
G |
4: 63,888,589 (GRCm39) |
Y1735H |
probably damaging |
Het |
Ttc22 |
A |
G |
4: 106,495,780 (GRCm39) |
K378R |
probably benign |
Het |
Tubg2 |
A |
G |
11: 101,051,635 (GRCm39) |
K287E |
possibly damaging |
Het |
Unc79 |
A |
G |
12: 103,027,717 (GRCm39) |
N436S |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,651,409 (GRCm39) |
I1585F |
probably benign |
Het |
Vmn2r104 |
T |
C |
17: 20,261,909 (GRCm39) |
Y407C |
probably damaging |
Het |
Vmn2r108 |
T |
A |
17: 20,692,447 (GRCm39) |
L136F |
probably benign |
Het |
Vmn2r38 |
A |
G |
7: 9,097,611 (GRCm39) |
S161P |
probably damaging |
Het |
Vmn2r90 |
T |
C |
17: 17,953,606 (GRCm39) |
I590T |
probably benign |
Het |
Washc5 |
T |
C |
15: 59,217,248 (GRCm39) |
E323G |
probably damaging |
Het |
Wdhd1 |
C |
T |
14: 47,505,653 (GRCm39) |
G273D |
probably damaging |
Het |
Xpo6 |
G |
T |
7: 125,708,016 (GRCm39) |
Q851K |
probably damaging |
Het |
Zfp386 |
T |
C |
12: 116,023,526 (GRCm39) |
S380P |
probably damaging |
Het |
Zfp536 |
A |
G |
7: 37,173,281 (GRCm39) |
C274R |
unknown |
Het |
Zfp64 |
A |
G |
2: 168,768,088 (GRCm39) |
I508T |
probably benign |
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 |
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'- ATCTCTCAGTTTGGAGACTCAGG -3'
(R):5'- ACAGACAGTCTAGAGTGCAACC -3'
Sequencing Primer
(F):5'- CAGTTTGGAGACTCAGGTTTTGTCC -3'
(R):5'- GACAGTCTAGAGTGCAACCTGATTC -3'
|
Posted On |
2017-10-10 |