Incidental Mutation 'R0647:Ugt3a1'
| ID |
57302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt3a1
|
| Ensembl Gene |
ENSMUSG00000072664 |
| Gene Name |
UDP glycosyltransferases 3 family, polypeptide A1 |
| Synonyms |
Ugt3a2 |
| MMRRC Submission |
038832-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R0647 (G1)
|
| Quality Score |
87 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
9335670-9370960 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 9310635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 306
(M306L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022861]
|
| AlphaFold |
Q3UP75 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022861
AA Change: M306L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664
AA Change: M306L
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
C |
A |
11: 50,494,265 (GRCm39) |
T113K |
probably damaging |
Het |
| Adgre1 |
T |
A |
17: 57,718,003 (GRCm39) |
N338K |
probably damaging |
Het |
| Aggf1 |
A |
T |
13: 95,508,164 (GRCm39) |
|
probably null |
Het |
| Apc2 |
A |
T |
10: 80,140,762 (GRCm39) |
I206F |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,739,892 (GRCm39) |
|
probably null |
Het |
| Ccdc110 |
A |
C |
8: 46,396,425 (GRCm39) |
E772A |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,143,681 (GRCm39) |
F2977L |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,159,153 (GRCm39) |
Y2207* |
probably null |
Het |
| Cfap20dc |
T |
A |
14: 8,536,655 (GRCm38) |
D184V |
possibly damaging |
Het |
| Chd4 |
T |
A |
6: 125,086,086 (GRCm39) |
N908K |
probably damaging |
Het |
| Chst9 |
A |
G |
18: 15,585,726 (GRCm39) |
I279T |
probably damaging |
Het |
| Ctnna3 |
A |
T |
10: 63,656,203 (GRCm39) |
N261I |
probably benign |
Het |
| Dlgap2 |
A |
T |
8: 14,777,591 (GRCm39) |
S279C |
possibly damaging |
Het |
| Dock4 |
G |
A |
12: 40,760,883 (GRCm39) |
E524K |
probably damaging |
Het |
| Fabp12 |
T |
A |
3: 10,311,096 (GRCm39) |
N122I |
possibly damaging |
Het |
| Fam184b |
T |
C |
5: 45,741,932 (GRCm39) |
T100A |
probably benign |
Het |
| Fbxl5 |
T |
C |
5: 43,925,411 (GRCm39) |
D176G |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Foxe1 |
A |
G |
4: 46,344,477 (GRCm39) |
N95S |
possibly damaging |
Het |
| Frem3 |
A |
G |
8: 81,341,814 (GRCm39) |
E1369G |
probably damaging |
Het |
| Frmpd4 |
C |
T |
X: 166,272,006 (GRCm39) |
E483K |
probably damaging |
Het |
| Gbp11 |
T |
C |
5: 105,478,830 (GRCm39) |
K203E |
possibly damaging |
Het |
| Hs3st6 |
C |
T |
17: 24,977,134 (GRCm39) |
R205C |
probably damaging |
Het |
| Ifitm10 |
C |
T |
7: 141,909,772 (GRCm39) |
S179N |
probably damaging |
Het |
| Irx2 |
A |
C |
13: 72,778,799 (GRCm39) |
N121T |
probably damaging |
Het |
| Itih1 |
A |
T |
14: 30,657,820 (GRCm39) |
V417E |
probably damaging |
Het |
| Itpr1 |
A |
C |
6: 108,360,659 (GRCm39) |
E695A |
probably damaging |
Het |
| Kif1c |
T |
A |
11: 70,616,967 (GRCm39) |
I755K |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,013,104 (GRCm39) |
E443G |
probably damaging |
Het |
| Lrp1 |
G |
C |
10: 127,407,346 (GRCm39) |
T1865R |
probably damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,628,473 (GRCm39) |
I273K |
possibly damaging |
Het |
| Ly9 |
T |
C |
1: 171,427,376 (GRCm39) |
Y393C |
probably damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,911,862 (GRCm39) |
V295A |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,117,132 (GRCm39) |
D269E |
probably damaging |
Het |
| Or1r1 |
G |
A |
11: 73,874,597 (GRCm39) |
A279V |
probably damaging |
Het |
| Or2t6 |
T |
G |
14: 14,175,858 (GRCm38) |
T75P |
probably benign |
Het |
| Or4k44 |
A |
G |
2: 111,367,704 (GRCm39) |
V310A |
probably benign |
Het |
| Or52u1 |
T |
G |
7: 104,237,322 (GRCm39) |
F104V |
probably damaging |
Het |
| Or5p50 |
T |
A |
7: 107,422,218 (GRCm39) |
I153F |
probably benign |
Het |
| Otud3 |
A |
G |
4: 138,640,948 (GRCm39) |
L64P |
probably damaging |
Het |
| Pcdh17 |
A |
T |
14: 84,685,213 (GRCm39) |
H560L |
possibly damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,646,913 (GRCm39) |
V14A |
probably damaging |
Het |
| Prss3l |
A |
T |
6: 41,420,275 (GRCm39) |
F150L |
probably benign |
Het |
| Rbfox1 |
A |
T |
16: 7,042,248 (GRCm39) |
Q14L |
probably damaging |
Het |
| Rbm44 |
A |
G |
1: 91,084,650 (GRCm39) |
D665G |
probably benign |
Het |
| Rc3h2 |
C |
T |
2: 37,299,542 (GRCm39) |
V163M |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,605,316 (GRCm39) |
R1025W |
probably damaging |
Het |
| Sgpl1 |
A |
G |
10: 60,949,267 (GRCm39) |
S146P |
probably damaging |
Het |
| Slc27a2 |
G |
A |
2: 126,429,836 (GRCm39) |
D615N |
probably benign |
Het |
| Smap1 |
A |
G |
1: 23,892,559 (GRCm39) |
I135T |
probably damaging |
Het |
| Snapc3 |
A |
G |
4: 83,368,466 (GRCm39) |
D321G |
probably damaging |
Het |
| St6galnac4 |
C |
T |
2: 32,479,460 (GRCm39) |
R6C |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 75,934,977 (GRCm39) |
P153L |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,050,092 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
A |
G |
11: 115,687,621 (GRCm39) |
N1160S |
probably damaging |
Het |
| Trim65 |
G |
A |
11: 116,019,036 (GRCm39) |
R168C |
possibly damaging |
Het |
| Txndc16 |
A |
T |
14: 45,406,732 (GRCm39) |
I241N |
probably damaging |
Het |
| Txndc16 |
T |
A |
14: 45,402,818 (GRCm39) |
R101* |
probably null |
Het |
| Ugt2b38 |
A |
G |
5: 87,571,328 (GRCm39) |
S235P |
probably benign |
Het |
| Vmn1r23 |
T |
A |
6: 57,903,169 (GRCm39) |
Y203F |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,183,046 (GRCm39) |
I218F |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,831,656 (GRCm39) |
C857R |
possibly damaging |
Het |
| Zfp493 |
A |
C |
13: 67,931,994 (GRCm39) |
K31T |
possibly 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 |
|
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 |
|
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'- ACATCTAGACAGGGCCTATGGAAGG -3'
(R):5'- GCCAGTCCAAGTGTTCAGACATCAG -3'
Sequencing Primer
(F):5'- CAGGGCCTATGGAAGGACTTTTATC -3'
(R):5'- GTGTTCAGACATCAGATATCCGTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation