Incidental Mutation 'R9657:Ugt3a1'
| ID |
727410 |
| 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 # |
R9657 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
9335670-9370960 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 9280133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 32
(S32R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022861]
[ENSMUST00000176878]
|
| AlphaFold |
Q3UP75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022861
AA Change: S32R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664
AA Change: S32R
| 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 |
probably benign
Transcript: ENSMUST00000176878
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,243,379 (GRCm39) |
D1747E |
probably benign |
Het |
| Acad11 |
T |
A |
9: 103,953,035 (GRCm39) |
I88N |
possibly damaging |
Het |
| Atp2b4 |
T |
C |
1: 133,656,478 (GRCm39) |
E724G |
probably damaging |
Het |
| Bcl2a1b |
T |
C |
9: 89,081,599 (GRCm39) |
S63P |
probably damaging |
Het |
| Blzf1 |
T |
C |
1: 164,134,023 (GRCm39) |
S9G |
probably benign |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,104 (GRCm39) |
T283A |
probably benign |
Het |
| Cdh22 |
T |
C |
2: 164,965,715 (GRCm39) |
D488G |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,351,003 (GRCm39) |
E688G |
possibly damaging |
Het |
| Cldn10 |
A |
C |
14: 119,025,781 (GRCm39) |
E71D |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cyp3a16 |
T |
C |
5: 145,386,979 (GRCm39) |
D337G |
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,410,089 (GRCm39) |
D3654V |
probably damaging |
Het |
| Dock1 |
T |
C |
7: 134,339,429 (GRCm39) |
S100P |
possibly damaging |
Het |
| Hdgfl2 |
T |
C |
17: 56,405,978 (GRCm39) |
V488A |
unknown |
Het |
| Itih2 |
T |
C |
2: 10,107,686 (GRCm39) |
T627A |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,441,956 (GRCm39) |
S648G |
probably benign |
Het |
| Klhl33 |
T |
C |
14: 51,134,117 (GRCm39) |
D144G |
probably benign |
Het |
| Lca5l |
G |
A |
16: 95,974,953 (GRCm39) |
Q324* |
probably null |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,921,806 (GRCm39) |
T542A |
probably benign |
Het |
| Moxd1 |
T |
A |
10: 24,128,485 (GRCm39) |
V179E |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,455,963 (GRCm39) |
Y116C |
probably damaging |
Het |
| Myoc |
C |
T |
1: 162,467,229 (GRCm39) |
R133* |
probably null |
Het |
| Nol3 |
A |
T |
8: 106,005,641 (GRCm39) |
I12F |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,352,377 (GRCm39) |
V605A |
probably benign |
Het |
| Or5w13 |
T |
C |
2: 87,524,121 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or9m2 |
A |
C |
2: 87,821,310 (GRCm39) |
N285T |
probably damaging |
Het |
| Pag1 |
G |
T |
3: 9,769,791 (GRCm39) |
S52R |
probably damaging |
Het |
| Pbxip1 |
A |
G |
3: 89,355,056 (GRCm39) |
D525G |
probably benign |
Het |
| Pla2g4f |
A |
G |
2: 120,135,138 (GRCm39) |
F437L |
probably benign |
Het |
| Podn |
A |
C |
4: 107,884,231 (GRCm39) |
I86S |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,290,820 (GRCm39) |
T676A |
probably benign |
Het |
| Ppp1r1c |
A |
G |
2: 79,638,718 (GRCm39) |
E104G |
probably benign |
Het |
| Prss53 |
T |
C |
7: 127,486,238 (GRCm39) |
T436A |
probably damaging |
Het |
| Psme4 |
A |
T |
11: 30,788,980 (GRCm39) |
E1127D |
probably benign |
Het |
| Ptpn18 |
C |
A |
1: 34,512,473 (GRCm39) |
A426E |
possibly damaging |
Het |
| Ptprz1 |
T |
G |
6: 23,042,377 (GRCm39) |
C2044G |
possibly damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,581,372 (GRCm39) |
V850L |
probably damaging |
Het |
| Ranbp9 |
A |
G |
13: 43,557,155 (GRCm39) |
I28T |
unknown |
Het |
| Rapgef2 |
A |
T |
3: 78,999,191 (GRCm39) |
V527E |
probably damaging |
Het |
| Rere |
C |
A |
4: 150,699,390 (GRCm39) |
P825T |
unknown |
Het |
| Rundc3a |
A |
G |
11: 102,291,578 (GRCm39) |
T349A |
probably benign |
Het |
| Scn2a |
T |
C |
2: 65,566,032 (GRCm39) |
F1352S |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 55,944,295 (GRCm39) |
C206* |
probably null |
Het |
| Serac1 |
C |
T |
17: 6,119,658 (GRCm39) |
V91I |
probably benign |
Het |
| Serpina1f |
G |
A |
12: 103,656,050 (GRCm39) |
Q393* |
probably null |
Het |
| Slc8a1 |
T |
C |
17: 81,955,244 (GRCm39) |
E598G |
probably damaging |
Het |
| Slmap |
A |
T |
14: 26,151,013 (GRCm39) |
H518Q |
probably benign |
Het |
| Spg11 |
G |
A |
2: 121,910,781 (GRCm39) |
R1199C |
probably damaging |
Het |
| Tada1 |
T |
C |
1: 166,214,312 (GRCm39) |
S104P |
possibly damaging |
Het |
| Tbck |
A |
G |
3: 132,421,451 (GRCm39) |
D186G |
probably damaging |
Het |
| Tdrd9 |
A |
C |
12: 112,002,824 (GRCm39) |
R824S |
possibly damaging |
Het |
| Tmem161a |
T |
C |
8: 70,630,260 (GRCm39) |
|
probably null |
Het |
| Trim55 |
G |
A |
3: 19,728,671 (GRCm39) |
G494D |
possibly damaging |
Het |
| Ttc17 |
T |
A |
2: 94,237,010 (GRCm39) |
M1L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Vgll3 |
T |
C |
16: 65,636,343 (GRCm39) |
S220P |
probably benign |
Het |
| Virma |
A |
G |
4: 11,544,898 (GRCm39) |
E1569G |
probably damaging |
Het |
| Vmn1r54 |
C |
G |
6: 90,246,984 (GRCm39) |
F299L |
probably benign |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,690 (GRCm39) |
S597P |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 64,057,918 (GRCm39) |
D1249G |
probably damaging |
Het |
| Wdr97 |
A |
G |
15: 76,245,476 (GRCm39) |
Y1271C |
|
Het |
| Yju2b |
T |
C |
8: 84,987,084 (GRCm39) |
K138E |
possibly damaging |
Het |
| Ypel4 |
A |
G |
2: 84,568,068 (GRCm39) |
Y108C |
probably damaging |
Het |
| Zfp770 |
A |
G |
2: 114,027,766 (GRCm39) |
V101A |
probably damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,575,729 (GRCm39) |
C451S |
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 |
|
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 |
|
Z1177:Ugt3a1
|
UTSW |
15 |
9,367,343 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTGCTTTGTGACAGAGCC -3'
(R):5'- CCCCAGTAGAGAAGCCTTTC -3'
Sequencing Primer
(F):5'- CTTACAGGATCCCTTAGTGGAGCAC -3'
(R):5'- GTAGAGAAGCCTTTCTTACAAACC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation