Incidental Mutation 'R4957:Ugt3a1'
| ID |
381674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt3a1
|
| Ensembl Gene |
ENSMUSG00000072664 |
| Gene Name |
UDP glycosyltransferases 3 family, polypeptide A1 |
| Synonyms |
Ugt3a2 |
| MMRRC Submission |
042554-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R4957 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
9335670-9370960 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 9365274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 296
(V296I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072403]
|
| AlphaFold |
Q3UP75 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072403
AA Change: V296I
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000072236
Gene: ENSMUSG00000049152
AA Change: V296I
| 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 |
0.2647 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
99% (80/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
C |
1: 120,096,840 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
C |
T |
1: 120,096,850 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
G |
T |
1: 120,096,849 (GRCm39) |
|
probably benign |
Het |
| 6820408C15Rik |
T |
A |
2: 152,286,013 (GRCm39) |
V342D |
probably damaging |
Het |
| Arhgap33 |
C |
T |
7: 30,231,786 (GRCm39) |
G101R |
probably damaging |
Het |
| Atf7ip |
C |
T |
6: 136,583,808 (GRCm39) |
R1280C |
probably damaging |
Het |
| Cacnb4 |
T |
C |
2: 52,448,303 (GRCm39) |
H8R |
probably damaging |
Het |
| Ccdc150 |
T |
A |
1: 54,404,027 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
A |
G |
18: 60,942,109 (GRCm39) |
N113D |
probably benign |
Het |
| Cdc25b |
T |
C |
2: 131,035,525 (GRCm39) |
V341A |
possibly damaging |
Het |
| Clptm1l |
T |
A |
13: 73,759,315 (GRCm39) |
I245N |
possibly damaging |
Het |
| Clptm1l |
T |
C |
13: 73,760,547 (GRCm39) |
I310T |
probably damaging |
Het |
| Creb5 |
A |
T |
6: 53,670,907 (GRCm39) |
|
probably null |
Het |
| Crebbp |
T |
C |
16: 3,935,231 (GRCm39) |
Q460R |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 117,965,124 (GRCm39) |
I2306N |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Elovl1 |
A |
T |
4: 118,289,120 (GRCm39) |
H215L |
probably damaging |
Het |
| Enkd1 |
A |
G |
8: 106,431,121 (GRCm39) |
I202T |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,871,892 (GRCm39) |
A407V |
probably damaging |
Het |
| Ercc3 |
G |
T |
18: 32,376,170 (GRCm39) |
G130W |
probably damaging |
Het |
| Fbxl8 |
A |
G |
8: 105,994,827 (GRCm39) |
E113G |
probably damaging |
Het |
| Frmpd1 |
T |
G |
4: 45,273,099 (GRCm39) |
N339K |
probably damaging |
Het |
| Frrs1 |
G |
A |
3: 116,678,897 (GRCm39) |
D240N |
probably benign |
Het |
| Gemin2 |
A |
G |
12: 59,063,954 (GRCm39) |
S105G |
probably benign |
Het |
| Glra1 |
T |
A |
11: 55,418,224 (GRCm39) |
I257F |
probably damaging |
Het |
| Gmcl1 |
G |
A |
6: 86,687,503 (GRCm39) |
P354S |
probably damaging |
Het |
| Gpr15 |
G |
T |
16: 58,538,537 (GRCm39) |
A184E |
probably damaging |
Het |
| Grm7 |
G |
A |
6: 111,335,824 (GRCm39) |
G745E |
probably damaging |
Het |
| H2-T10 |
T |
A |
17: 36,428,308 (GRCm39) |
|
probably benign |
Het |
| Hdac5 |
C |
A |
11: 102,096,082 (GRCm39) |
|
probably benign |
Het |
| Ift22 |
G |
A |
5: 136,937,070 (GRCm39) |
|
probably benign |
Het |
| Ighg3 |
T |
C |
12: 113,324,750 (GRCm39) |
E34G |
unknown |
Het |
| Itga11 |
A |
T |
9: 62,674,930 (GRCm39) |
T821S |
probably benign |
Het |
| Lmod2 |
T |
C |
6: 24,603,871 (GRCm39) |
V282A |
possibly damaging |
Het |
| Maml2 |
A |
G |
9: 13,531,572 (GRCm39) |
K262R |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,250,910 (GRCm39) |
|
probably benign |
Het |
| Mnat1 |
A |
G |
12: 73,170,652 (GRCm39) |
Y14C |
probably damaging |
Het |
| Mtdh |
A |
T |
15: 34,083,281 (GRCm39) |
T34S |
possibly damaging |
Het |
| Ncaph |
T |
C |
2: 126,963,177 (GRCm39) |
D352G |
possibly damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,344 (GRCm39) |
Y276H |
probably damaging |
Het |
| Or4f17-ps1 |
C |
A |
2: 111,358,569 (GRCm39) |
N321K |
probably benign |
Het |
| Or5m9b |
T |
A |
2: 85,905,854 (GRCm39) |
Y257N |
probably damaging |
Het |
| Or9g8 |
T |
C |
2: 85,607,459 (GRCm39) |
F177S |
probably damaging |
Het |
| Pcdhb13 |
T |
A |
18: 37,577,837 (GRCm39) |
D738E |
possibly damaging |
Het |
| Pla2g4f |
C |
T |
2: 120,130,980 (GRCm39) |
R825Q |
probably benign |
Het |
| Pnliprp2 |
C |
T |
19: 58,763,577 (GRCm39) |
L409F |
possibly damaging |
Het |
| Prlr |
G |
T |
15: 10,319,281 (GRCm39) |
C70F |
probably damaging |
Het |
| Ptpn14 |
C |
T |
1: 189,583,469 (GRCm39) |
T772I |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,799,966 (GRCm39) |
Q927R |
probably damaging |
Het |
| Scarf1 |
A |
G |
11: 75,416,460 (GRCm39) |
E634G |
probably benign |
Het |
| Scart1 |
T |
C |
7: 139,808,435 (GRCm39) |
V782A |
probably damaging |
Het |
| Skic3 |
T |
G |
13: 76,333,232 (GRCm39) |
|
probably null |
Het |
| Slc39a14 |
A |
T |
14: 70,553,260 (GRCm39) |
S158R |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,365,194 (GRCm39) |
T176S |
probably benign |
Het |
| Srsf10 |
T |
C |
4: 135,583,541 (GRCm39) |
S2P |
probably damaging |
Het |
| Tcam1 |
T |
A |
11: 106,173,705 (GRCm39) |
C50S |
probably damaging |
Het |
| Tcf7l2 |
A |
G |
19: 55,919,864 (GRCm39) |
|
probably null |
Het |
| Tdrd3 |
T |
A |
14: 87,743,223 (GRCm39) |
H390Q |
probably benign |
Het |
| Tlk2 |
T |
C |
11: 105,144,185 (GRCm39) |
|
probably null |
Het |
| Tnc |
G |
C |
4: 63,894,793 (GRCm39) |
P1531R |
probably damaging |
Het |
| Tnfrsf1b |
C |
A |
4: 144,973,327 (GRCm39) |
Q15H |
probably damaging |
Het |
| Tnfrsf1b |
T |
G |
4: 144,973,328 (GRCm39) |
Q15P |
possibly damaging |
Het |
| Tssk4 |
A |
T |
14: 55,889,266 (GRCm39) |
E264V |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn2r8 |
T |
G |
5: 108,947,129 (GRCm39) |
E541A |
probably benign |
Het |
| Ybx1 |
A |
T |
4: 119,136,135 (GRCm39) |
|
probably benign |
Het |
| Zfp39 |
T |
A |
11: 58,782,057 (GRCm39) |
Y235F |
possibly damaging |
Het |
| Zfp422 |
T |
A |
6: 116,603,904 (GRCm39) |
K32* |
probably null |
Het |
| Zpbp2 |
T |
A |
11: 98,442,150 (GRCm39) |
|
probably null |
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 |
|
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'- TGAACACGGTACACATGGCAC -3'
(R):5'- AAGGTCAGTCTGTGGAAGCC -3'
Sequencing Primer
(F):5'- CACATCTGAACAGGGCCTATGG -3'
(R):5'- TCAGTCTGTGGAAGCCAATCC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation