Incidental Mutation 'R6265:Ugt3a1'
| ID |
506974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt3a1
|
| Ensembl Gene |
ENSMUSG00000072664 |
| Gene Name |
UDP glycosyltransferases 3 family, polypeptide A1 |
| Synonyms |
Ugt3a2 |
| MMRRC Submission |
044438-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R6265 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
9335670-9370960 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 9361665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 147
(D147V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072403]
|
| AlphaFold |
Q3UP75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072403
AA Change: D147V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072236
Gene: ENSMUSG00000049152
AA Change: D147V
| 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
|
| Meta Mutation Damage Score |
0.3385 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
C |
T |
4: 137,181,986 (GRCm39) |
P47L |
probably damaging |
Het |
| Acot1 |
T |
C |
12: 84,063,687 (GRCm39) |
I265T |
probably benign |
Het |
| Amotl1 |
T |
C |
9: 14,482,951 (GRCm39) |
D587G |
possibly damaging |
Het |
| Anks1b |
T |
G |
10: 90,777,362 (GRCm39) |
D1117E |
probably damaging |
Het |
| Art4 |
T |
G |
6: 136,831,886 (GRCm39) |
N85T |
probably damaging |
Het |
| Asb3 |
C |
A |
11: 31,035,143 (GRCm39) |
Q462K |
probably benign |
Het |
| Atcay |
C |
T |
10: 81,049,114 (GRCm39) |
E163K |
possibly damaging |
Het |
| Atp6v0e |
T |
C |
17: 26,895,507 (GRCm39) |
V20A |
possibly damaging |
Het |
| Atp7b |
G |
A |
8: 22,505,943 (GRCm39) |
Q520* |
probably null |
Het |
| Baat |
A |
T |
4: 49,502,836 (GRCm39) |
D95E |
possibly damaging |
Het |
| Cars2 |
TCCCC |
TCCC |
8: 11,579,599 (GRCm39) |
|
probably null |
Het |
| Ccdc24 |
G |
A |
4: 117,728,374 (GRCm39) |
Q47* |
probably null |
Het |
| Cep170b |
C |
A |
12: 112,710,993 (GRCm39) |
Q1488K |
probably damaging |
Het |
| Cldn24 |
A |
C |
8: 48,275,374 (GRCm39) |
D66A |
probably benign |
Het |
| Cln5 |
C |
A |
14: 103,310,663 (GRCm39) |
T110K |
probably damaging |
Het |
| Clvs2 |
C |
A |
10: 33,404,511 (GRCm39) |
S235I |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,705,060 (GRCm39) |
G730R |
unknown |
Het |
| Crim1 |
C |
T |
17: 78,677,514 (GRCm39) |
P905L |
probably benign |
Het |
| Cxxc4 |
T |
C |
3: 133,963,824 (GRCm39) |
V356A |
probably benign |
Het |
| Dctn6 |
G |
T |
8: 34,562,057 (GRCm39) |
N93K |
probably damaging |
Het |
| Dnah9 |
G |
A |
11: 66,058,920 (GRCm39) |
A125V |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,342,577 (GRCm39) |
I1307T |
probably benign |
Het |
| Dpy19l1 |
T |
A |
9: 24,343,667 (GRCm39) |
I493F |
possibly damaging |
Het |
| Ebf2 |
A |
G |
14: 67,661,509 (GRCm39) |
I546V |
probably benign |
Het |
| Fbll1 |
T |
C |
11: 35,688,636 (GRCm39) |
E209G |
probably damaging |
Het |
| Foxj2 |
G |
A |
6: 122,805,133 (GRCm39) |
A2T |
probably damaging |
Het |
| Foxs1 |
A |
T |
2: 152,774,098 (GRCm39) |
C318* |
probably null |
Het |
| Gorab |
T |
C |
1: 163,214,199 (GRCm39) |
T244A |
possibly damaging |
Het |
| Gtsf1l |
C |
A |
2: 162,929,583 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,279,298 (GRCm39) |
S69P |
probably benign |
Het |
| Hpca |
C |
T |
4: 129,012,445 (GRCm39) |
W30* |
probably null |
Het |
| Ing3 |
C |
A |
6: 21,953,813 (GRCm39) |
Q85K |
probably damaging |
Het |
| Klhdc8b |
T |
C |
9: 108,325,624 (GRCm39) |
E264G |
probably damaging |
Het |
| Lair1 |
T |
A |
7: 4,058,826 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,057,650 (GRCm39) |
Y575H |
probably damaging |
Het |
| Lamtor2 |
C |
A |
3: 88,458,020 (GRCm39) |
G29* |
probably null |
Het |
| Loxhd1 |
A |
T |
18: 77,449,426 (GRCm39) |
D341V |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,296,684 (GRCm39) |
D3290V |
probably damaging |
Het |
| Matn2 |
A |
T |
15: 34,399,301 (GRCm39) |
D396V |
probably damaging |
Het |
| Me3 |
T |
A |
7: 89,498,951 (GRCm39) |
D510E |
probably benign |
Het |
| Melk |
A |
G |
4: 44,318,109 (GRCm39) |
Y170C |
probably damaging |
Het |
| Mgat2 |
T |
C |
12: 69,231,567 (GRCm39) |
V47A |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,278,049 (GRCm39) |
I631T |
probably damaging |
Het |
| Myo5b |
T |
A |
18: 74,710,511 (GRCm39) |
|
probably null |
Het |
| Myo7b |
A |
T |
18: 32,131,203 (GRCm39) |
D521E |
probably damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,796,608 (GRCm39) |
F986I |
probably benign |
Het |
| Or8k39 |
A |
G |
2: 86,563,299 (GRCm39) |
L219P |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,357,804 (GRCm39) |
D690G |
probably benign |
Het |
| Pias2 |
T |
C |
18: 77,184,954 (GRCm39) |
S5P |
probably damaging |
Het |
| Reep4 |
A |
T |
14: 70,785,143 (GRCm39) |
S150C |
probably damaging |
Het |
| Slc25a21 |
T |
C |
12: 57,243,685 (GRCm39) |
R14G |
probably benign |
Het |
| Slc6a6 |
G |
C |
6: 91,731,896 (GRCm39) |
R575T |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,383,323 (GRCm39) |
Y886* |
probably null |
Het |
| Tas2r103 |
A |
C |
6: 133,013,494 (GRCm39) |
F191V |
probably damaging |
Het |
| Tbc1d19 |
A |
G |
5: 53,995,266 (GRCm39) |
D145G |
probably benign |
Het |
| Tex47 |
T |
A |
5: 7,355,461 (GRCm39) |
I214N |
probably damaging |
Het |
| Tnnt3 |
A |
T |
7: 142,055,382 (GRCm39) |
D3V |
probably damaging |
Het |
| Trdv2-1 |
T |
G |
14: 54,183,842 (GRCm39) |
S24A |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,179,951 (GRCm39) |
D3377G |
possibly damaging |
Het |
| Usp9y |
A |
T |
Y: 1,446,843 (GRCm39) |
D103E |
probably benign |
Homo |
| Vmn1r168 |
A |
G |
7: 23,240,961 (GRCm39) |
I273V |
probably benign |
Het |
| Vmn2r61 |
T |
C |
7: 41,915,915 (GRCm39) |
I176T |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,956,463 (GRCm39) |
D53V |
probably benign |
Het |
| Zbtb8os |
A |
T |
4: 129,229,775 (GRCm39) |
|
probably benign |
Het |
| Zfp551 |
C |
T |
7: 12,149,339 (GRCm39) |
R690Q |
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 |
|
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'- TGGGAATTAAGCATAGTAGCATTCC -3'
(R):5'- TCAGAAAGTTCTTCACTCGGCC -3'
Sequencing Primer
(F):5'- GCATAGTAGCATTCCATATAGTGTG -3'
(R):5'- CCCAGAAGTCCATTTGGTCAGTTAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation