Incidental Mutation 'R7672:Ugt3a1'
ID |
592259 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt3a1
|
Ensembl Gene |
ENSMUSG00000072664 |
Gene Name |
UDP glycosyltransferases 3 family, polypeptide A1 |
Synonyms |
Ugt3a2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R7672 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
9335670-9370960 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 9310779 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 354
(Q354*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022861
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022861]
|
AlphaFold |
Q3UP75 |
Predicted Effect |
probably null
Transcript: ENSMUST00000022861
AA Change: Q354*
|
SMART Domains |
Protein: ENSMUSP00000022861 Gene: ENSMUSG00000072664 AA Change: Q354*
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
T |
C |
7: 127,836,191 (GRCm39) |
H134R |
probably damaging |
Het |
Adcy4 |
A |
G |
14: 56,018,362 (GRCm39) |
M195T |
probably benign |
Het |
Aktip |
T |
C |
8: 91,856,285 (GRCm39) |
N64S |
possibly damaging |
Het |
Aldoart1 |
C |
A |
4: 72,770,747 (GRCm39) |
M20I |
probably benign |
Het |
Alms1 |
T |
C |
6: 85,592,333 (GRCm39) |
L395P |
probably damaging |
Het |
Ankrd9 |
C |
A |
12: 110,943,180 (GRCm39) |
V252F |
probably benign |
Het |
Apof |
A |
T |
10: 128,104,885 (GRCm39) |
H13L |
probably benign |
Het |
Bahcc1 |
T |
C |
11: 120,174,172 (GRCm39) |
F1644S |
possibly damaging |
Het |
Baz2a |
A |
G |
10: 127,959,726 (GRCm39) |
D1377G |
possibly damaging |
Het |
Bbox1 |
T |
A |
2: 110,135,794 (GRCm39) |
I62F |
probably damaging |
Het |
BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
BC028528 |
TCTGTGGTCACTGGT |
TCTGTGGTCACTGGTGCTGTGGTCACTGGT |
3: 95,795,487 (GRCm39) |
|
probably benign |
Het |
BC028528 |
GTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG |
GTTCTGTGGTCACTGATTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG |
3: 95,795,455 (GRCm39) |
|
probably benign |
Het |
Bcas3 |
C |
T |
11: 85,286,213 (GRCm39) |
R124* |
probably null |
Het |
Bpnt1 |
T |
C |
1: 185,078,879 (GRCm39) |
V114A |
probably damaging |
Het |
Ccnd1 |
C |
T |
7: 144,487,793 (GRCm39) |
R228H |
possibly damaging |
Het |
Cd244a |
T |
C |
1: 171,404,853 (GRCm39) |
V235A |
probably benign |
Het |
Cramp1 |
C |
T |
17: 25,201,440 (GRCm39) |
E681K |
probably damaging |
Het |
Crebbp |
C |
T |
16: 3,902,574 (GRCm39) |
A2222T |
probably benign |
Het |
Cyp1a2 |
T |
A |
9: 57,589,620 (GRCm39) |
T65S |
probably benign |
Het |
Cyp26b1 |
T |
G |
6: 84,561,351 (GRCm39) |
K104Q |
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 104,071,581 (GRCm39) |
I556V |
probably benign |
Het |
Dnase1l2 |
A |
G |
17: 24,661,219 (GRCm39) |
L102P |
probably damaging |
Het |
Eef1ece2 |
C |
A |
16: 20,457,417 (GRCm39) |
A483E |
probably damaging |
Het |
Elac1 |
C |
T |
18: 73,871,925 (GRCm39) |
G357S |
probably benign |
Het |
Enam |
C |
A |
5: 88,651,830 (GRCm39) |
T1113N |
possibly damaging |
Het |
Eogt |
A |
T |
6: 97,090,870 (GRCm39) |
I423N |
probably damaging |
Het |
Epc2 |
T |
C |
2: 49,435,831 (GRCm39) |
S612P |
possibly damaging |
Het |
Fam107b |
T |
C |
2: 3,773,959 (GRCm39) |
V24A |
probably damaging |
Het |
Fhip2a |
A |
G |
19: 57,373,750 (GRCm39) |
H670R |
possibly damaging |
Het |
Foxj3 |
C |
T |
4: 119,477,429 (GRCm39) |
P413L |
unknown |
Het |
Frg1 |
T |
C |
8: 41,870,040 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,820,455 (GRCm39) |
V5396D |
possibly damaging |
Het |
Hdlbp |
T |
C |
1: 93,364,821 (GRCm39) |
T149A |
possibly damaging |
Het |
Heatr1 |
A |
T |
13: 12,453,545 (GRCm39) |
Q2140L |
probably damaging |
Het |
Iqcd |
T |
C |
5: 120,744,881 (GRCm39) |
L403P |
probably damaging |
Het |
Kifbp |
A |
G |
10: 62,413,852 (GRCm39) |
I102T |
probably benign |
Het |
Kpna2 |
T |
G |
11: 106,879,789 (GRCm39) |
N505T |
probably benign |
Het |
Lipo3 |
T |
A |
19: 33,757,785 (GRCm39) |
E228V |
probably benign |
Het |
Map4k3 |
C |
T |
17: 80,922,500 (GRCm39) |
V474I |
possibly damaging |
Het |
Mrpl11 |
T |
C |
19: 5,012,424 (GRCm39) |
S2P |
probably damaging |
Het |
Mug2 |
A |
G |
6: 122,017,678 (GRCm39) |
I472V |
probably benign |
Het |
Myom1 |
G |
A |
17: 71,391,235 (GRCm39) |
V915M |
possibly damaging |
Het |
Nedd9 |
A |
T |
13: 41,492,198 (GRCm39) |
I104N |
possibly damaging |
Het |
Nphp3 |
A |
G |
9: 103,909,159 (GRCm39) |
M790V |
probably benign |
Het |
Nr3c2 |
C |
T |
8: 77,635,838 (GRCm39) |
P313L |
probably damaging |
Het |
Obsl1 |
A |
G |
1: 75,469,365 (GRCm39) |
V1192A |
probably benign |
Het |
Or10j2 |
C |
T |
1: 173,098,440 (GRCm39) |
R233W |
probably benign |
Het |
Or52e7 |
A |
G |
7: 104,684,750 (GRCm39) |
H115R |
probably damaging |
Het |
Or5t16 |
T |
C |
2: 86,818,663 (GRCm39) |
I286V |
possibly damaging |
Het |
Prr5l |
T |
G |
2: 101,565,083 (GRCm39) |
E151A |
probably damaging |
Het |
Psmb8 |
G |
T |
17: 34,417,404 (GRCm39) |
R11L |
probably benign |
Het |
Ptprg |
T |
A |
14: 12,211,668 (GRCm38) |
H983Q |
probably benign |
Het |
Ptprj |
T |
C |
2: 90,290,940 (GRCm39) |
N600D |
possibly damaging |
Het |
Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
Rc3h1 |
A |
G |
1: 160,778,454 (GRCm39) |
S460G |
probably damaging |
Het |
Rhot2 |
A |
G |
17: 26,062,079 (GRCm39) |
|
probably null |
Het |
Sall1 |
T |
C |
8: 89,757,927 (GRCm39) |
T726A |
probably damaging |
Het |
Samd9l |
G |
A |
6: 3,373,646 (GRCm39) |
T1205I |
probably benign |
Het |
Sh2b3 |
C |
T |
5: 121,956,822 (GRCm39) |
|
probably null |
Het |
Slc22a18 |
G |
T |
7: 143,044,557 (GRCm39) |
C170F |
probably damaging |
Het |
Slc24a1 |
G |
A |
9: 64,855,209 (GRCm39) |
T566I |
unknown |
Het |
Slc4a5 |
T |
A |
6: 83,237,517 (GRCm39) |
C167S |
probably damaging |
Het |
Slc8b1 |
T |
G |
5: 120,671,100 (GRCm39) |
V579G |
probably damaging |
Het |
Snrnp200 |
T |
C |
2: 127,063,822 (GRCm39) |
V667A |
probably damaging |
Het |
Sp8 |
C |
A |
12: 118,813,070 (GRCm39) |
S308R |
possibly damaging |
Het |
Srsf9 |
T |
A |
5: 115,468,619 (GRCm39) |
V85E |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,168,527 (GRCm39) |
I5285V |
probably benign |
Het |
Tmem245 |
T |
C |
4: 56,947,069 (GRCm39) |
I115V |
probably benign |
Het |
Triqk |
A |
G |
4: 12,980,502 (GRCm39) |
D82G |
probably benign |
Het |
Trmt11 |
A |
T |
10: 30,463,520 (GRCm39) |
S198R |
probably damaging |
Het |
Ube4b |
C |
T |
4: 149,471,661 (GRCm39) |
R75Q |
probably benign |
Het |
Vmn1r202 |
A |
G |
13: 22,685,850 (GRCm39) |
V189A |
probably benign |
Het |
Vmn2r26 |
A |
G |
6: 124,016,606 (GRCm39) |
I357V |
probably benign |
Het |
Wdr6 |
T |
C |
9: 108,450,947 (GRCm39) |
K914R |
probably benign |
Het |
Zfat |
T |
C |
15: 68,130,535 (GRCm39) |
M1V |
probably null |
Het |
Zfp207 |
A |
G |
11: 80,280,116 (GRCm39) |
M171V |
probably benign |
Het |
Zfp568 |
C |
T |
7: 29,697,212 (GRCm39) |
T44I |
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 |
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 |
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'- TCTCTCAGTTTGGAGACTCAGG -3'
(R):5'- GACAGTCTAGAGTGCAACCTG -3'
Sequencing Primer
(F):5'- CAGTTTGGAGACTCAGGTTTTGTCC -3'
(R):5'- AGTCTAGAGTGCAACCTGATTCC -3'
|
Posted On |
2019-11-12 |