Incidental Mutation 'R6737:Ugt3a1'
ID |
530270 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt3a1
|
Ensembl Gene |
ENSMUSG00000072664 |
Gene Name |
UDP glycosyltransferases 3 family, polypeptide A1 |
Synonyms |
Ugt3a2 |
MMRRC Submission |
044855-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R6737 (G1)
|
Quality Score |
126.008 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
9335670-9370960 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 9311895 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 379
(V379A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022861
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022861]
|
AlphaFold |
Q3UP75 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022861
AA Change: V379A
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000022861 Gene: ENSMUSG00000072664 AA Change: V379A
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: ENSMUST00000175695
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061N02Rik |
T |
C |
16: 88,504,456 (GRCm39) |
R114G |
probably damaging |
Het |
Atm |
A |
T |
9: 53,397,351 (GRCm39) |
S1661T |
probably benign |
Het |
Castor1 |
A |
G |
11: 4,171,685 (GRCm39) |
D303G |
probably damaging |
Het |
Cd69 |
C |
T |
6: 129,245,262 (GRCm39) |
A188T |
probably benign |
Het |
Cecr2 |
G |
T |
6: 120,714,084 (GRCm39) |
L225F |
possibly damaging |
Het |
Cep295 |
A |
G |
9: 15,243,647 (GRCm39) |
V1603A |
possibly damaging |
Het |
Clec4g |
T |
C |
8: 3,757,716 (GRCm39) |
|
probably benign |
Het |
Clptm1 |
A |
T |
7: 19,371,001 (GRCm39) |
|
probably null |
Het |
Crybg2 |
G |
T |
4: 133,800,001 (GRCm39) |
G387V |
probably damaging |
Het |
Ctcf |
T |
A |
8: 106,391,140 (GRCm39) |
M249K |
probably benign |
Het |
Ctnnd2 |
C |
A |
15: 30,966,980 (GRCm39) |
S952* |
probably null |
Het |
Cxcr2 |
T |
C |
1: 74,197,790 (GRCm39) |
F95L |
probably benign |
Het |
Ddx55 |
C |
A |
5: 124,691,008 (GRCm39) |
T5K |
probably damaging |
Het |
Depp1 |
G |
T |
6: 116,629,058 (GRCm39) |
V134L |
possibly damaging |
Het |
Eif2ak2 |
T |
C |
17: 79,171,377 (GRCm39) |
N342S |
probably benign |
Het |
Eif2ak4 |
TGG |
TG |
2: 118,292,749 (GRCm39) |
|
probably null |
Het |
Epb41l2 |
C |
G |
10: 25,364,916 (GRCm39) |
|
probably null |
Het |
Fam234b |
A |
G |
6: 135,205,513 (GRCm39) |
K493E |
probably damaging |
Het |
Fndc7 |
C |
A |
3: 108,779,594 (GRCm39) |
V317L |
probably damaging |
Het |
Fpr-rs6 |
T |
C |
17: 20,403,339 (GRCm39) |
I7M |
probably benign |
Het |
Gal3st1 |
T |
A |
11: 3,948,903 (GRCm39) |
I370N |
probably benign |
Het |
Glo1 |
C |
T |
17: 30,816,814 (GRCm39) |
S114N |
probably benign |
Het |
Grik1 |
T |
C |
16: 87,848,279 (GRCm39) |
D163G |
probably damaging |
Het |
Grxcr1 |
T |
C |
5: 68,267,835 (GRCm39) |
C195R |
probably damaging |
Het |
Hdac9 |
T |
C |
12: 34,265,451 (GRCm39) |
N806S |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,897,605 (GRCm39) |
N987S |
probably benign |
Het |
Klhl29 |
G |
T |
12: 5,260,124 (GRCm39) |
S31R |
possibly damaging |
Het |
Lama4 |
C |
T |
10: 38,970,907 (GRCm39) |
R1491C |
probably damaging |
Het |
Lmtk3 |
T |
C |
7: 45,443,051 (GRCm39) |
L578P |
probably damaging |
Het |
Lrrk2 |
A |
C |
15: 91,607,421 (GRCm39) |
M595L |
possibly damaging |
Het |
Mmp27 |
A |
T |
9: 7,571,955 (GRCm39) |
N52Y |
possibly damaging |
Het |
Mrc1 |
C |
T |
2: 14,276,088 (GRCm39) |
A474V |
possibly damaging |
Het |
Msl1 |
A |
G |
11: 98,694,908 (GRCm39) |
H134R |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,411,236 (GRCm39) |
M1394T |
unknown |
Het |
Myof |
G |
A |
19: 37,931,962 (GRCm39) |
T968I |
probably benign |
Het |
Nat8f2 |
A |
T |
6: 85,845,194 (GRCm39) |
M56K |
probably benign |
Het |
Ncoa5 |
C |
T |
2: 164,844,055 (GRCm39) |
G116D |
probably damaging |
Het |
Ndst2 |
A |
G |
14: 20,777,562 (GRCm39) |
L494P |
probably damaging |
Het |
Nfatc3 |
T |
A |
8: 106,810,601 (GRCm39) |
V459E |
probably damaging |
Het |
Nup133 |
A |
T |
8: 124,633,030 (GRCm39) |
Y1034N |
probably damaging |
Het |
Nup153 |
A |
T |
13: 46,842,682 (GRCm39) |
S829T |
probably benign |
Het |
Or3a1b |
A |
G |
11: 74,012,732 (GRCm39) |
S206G |
probably benign |
Het |
Or4f47 |
T |
C |
2: 111,972,548 (GRCm39) |
F86S |
probably damaging |
Het |
Or52a24 |
C |
T |
7: 103,381,357 (GRCm39) |
L75F |
probably damaging |
Het |
Or5ac19 |
A |
G |
16: 59,089,175 (GRCm39) |
L285P |
possibly damaging |
Het |
Pcdh18 |
C |
A |
3: 49,710,344 (GRCm39) |
V324F |
probably damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,455,723 (GRCm39) |
L701H |
probably damaging |
Het |
Plau |
T |
G |
14: 20,887,884 (GRCm39) |
Y43D |
probably damaging |
Het |
Pld5 |
T |
A |
1: 175,917,588 (GRCm39) |
N53I |
probably damaging |
Het |
Pon2 |
T |
A |
6: 5,266,183 (GRCm39) |
I279F |
probably benign |
Het |
Prep |
A |
T |
10: 44,973,591 (GRCm39) |
K233I |
possibly damaging |
Het |
Rap1b |
T |
C |
10: 117,658,713 (GRCm39) |
Y40C |
probably damaging |
Het |
Ric8a |
T |
C |
7: 140,438,789 (GRCm39) |
|
probably null |
Het |
Rnf19b |
T |
C |
4: 128,979,344 (GRCm39) |
|
probably benign |
Het |
Rpl9-ps6 |
A |
C |
19: 32,443,727 (GRCm39) |
S75R |
probably damaging |
Het |
Sh3bp2 |
A |
G |
5: 34,719,818 (GRCm39) |
Y609C |
probably damaging |
Het |
Skint5 |
T |
C |
4: 113,392,936 (GRCm39) |
N1232S |
unknown |
Het |
Slc28a1 |
T |
G |
7: 80,818,996 (GRCm39) |
V615G |
probably benign |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Snx13 |
T |
G |
12: 35,190,185 (GRCm39) |
N845K |
probably damaging |
Het |
Srms |
T |
C |
2: 180,851,253 (GRCm39) |
Y171C |
probably damaging |
Het |
Supt6 |
A |
G |
11: 78,122,644 (GRCm39) |
L193P |
probably damaging |
Het |
Syt7 |
G |
A |
19: 10,421,408 (GRCm39) |
V531M |
probably damaging |
Het |
Tmem255b |
T |
C |
8: 13,507,096 (GRCm39) |
|
probably null |
Het |
Tnik |
A |
T |
3: 28,650,235 (GRCm39) |
K449N |
possibly damaging |
Het |
Trim29 |
A |
T |
9: 43,230,681 (GRCm39) |
D288V |
probably benign |
Het |
Ttc13 |
T |
A |
8: 125,408,900 (GRCm39) |
|
probably null |
Het |
Uchl3 |
A |
T |
14: 101,928,033 (GRCm39) |
D167V |
probably damaging |
Het |
Vps13b |
A |
G |
15: 35,910,757 (GRCm39) |
D3507G |
probably damaging |
Het |
Wfdc2 |
A |
T |
2: 164,405,362 (GRCm39) |
K88* |
probably null |
Het |
Ylpm1 |
C |
A |
12: 85,077,620 (GRCm39) |
H1448Q |
probably damaging |
Het |
Zc3h14 |
A |
G |
12: 98,751,305 (GRCm39) |
K667E |
probably 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 |
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'- AAGGCATTTCTCTACAGAGGG -3'
(R):5'- GAGCTGCATACCTCTGGTCTTC -3'
Sequencing Primer
(F):5'- TTCTCTACAGAGGGAAGGTTAGAC -3'
(R):5'- CTATGACTTCTTTCATGGTGAGC -3'
|
Posted On |
2018-08-01 |