Incidental Mutation 'R4744:Ugt3a1'
| ID |
356604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt3a1
|
| Ensembl Gene |
ENSMUSG00000072664 |
| Gene Name |
UDP glycosyltransferases 3 family, polypeptide A1 |
| Synonyms |
Ugt3a2 |
| MMRRC Submission |
042027-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R4744 (G1)
|
| Quality Score |
99 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
9335670-9370960 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9310639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 307
(I307N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022861]
|
| AlphaFold |
Q3UP75 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022861
AA Change: I307N
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664
AA Change: I307N
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
99% (82/83) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
T |
C |
5: 115,017,617 (GRCm39) |
S143P |
possibly damaging |
Het |
| 4933427D14Rik |
T |
C |
11: 72,066,365 (GRCm39) |
K614E |
probably damaging |
Het |
| Aatk |
A |
G |
11: 119,906,948 (GRCm39) |
M155T |
possibly damaging |
Het |
| Acvr2b |
T |
C |
9: 119,260,328 (GRCm39) |
L333P |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,128,699 (GRCm39) |
E865G |
probably damaging |
Het |
| Add2 |
A |
G |
6: 86,087,870 (GRCm39) |
S358G |
probably damaging |
Het |
| Agap2 |
T |
C |
10: 126,926,072 (GRCm39) |
|
probably null |
Het |
| Alkbh8 |
G |
A |
9: 3,344,604 (GRCm39) |
W49* |
probably null |
Het |
| AU015228 |
A |
T |
2: 129,942,549 (GRCm39) |
|
noncoding transcript |
Het |
| Bank1 |
G |
T |
3: 135,953,450 (GRCm39) |
R102S |
probably benign |
Het |
| Brap |
T |
A |
5: 121,800,193 (GRCm39) |
D27E |
probably damaging |
Het |
| Cyb5r2 |
G |
T |
7: 107,349,484 (GRCm39) |
H276N |
possibly damaging |
Het |
| Dhh |
A |
G |
15: 98,792,139 (GRCm39) |
F290L |
possibly damaging |
Het |
| Dhrs7 |
T |
A |
12: 72,699,025 (GRCm39) |
N319I |
possibly damaging |
Het |
| Ebpl |
A |
G |
14: 61,597,682 (GRCm39) |
V53A |
probably damaging |
Het |
| Eif3j2 |
TGCCGCCGCCGCCGCCGCCGCCGCCGCC |
TGCCGCCGCCGCCGCCGCCGCCGCC |
18: 43,610,782 (GRCm39) |
|
probably benign |
Het |
| Etnk1 |
A |
C |
6: 143,132,319 (GRCm39) |
N220T |
probably damaging |
Het |
| F11r |
T |
A |
1: 171,288,166 (GRCm39) |
V64D |
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,225,946 (GRCm39) |
S360P |
probably damaging |
Het |
| Fignl1 |
A |
G |
11: 11,751,585 (GRCm39) |
M490T |
probably damaging |
Het |
| Fpr-rs7 |
A |
T |
17: 20,334,265 (GRCm39) |
M75K |
probably benign |
Het |
| Fzd7 |
T |
A |
1: 59,523,595 (GRCm39) |
F493I |
possibly damaging |
Het |
| Galnt14 |
G |
T |
17: 73,814,828 (GRCm39) |
P412T |
probably damaging |
Het |
| Gcg |
T |
A |
2: 62,308,975 (GRCm39) |
S60C |
probably damaging |
Het |
| Ggt1 |
A |
G |
10: 75,421,733 (GRCm39) |
K527E |
probably benign |
Het |
| Gm16551 |
T |
A |
9: 74,758,153 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9972 |
A |
G |
11: 42,927,517 (GRCm39) |
K55E |
unknown |
Het |
| Gpr141 |
T |
A |
13: 19,935,884 (GRCm39) |
D297V |
probably benign |
Het |
| Grin2b |
G |
A |
6: 135,755,697 (GRCm39) |
S539L |
probably damaging |
Het |
| Hhipl1 |
A |
T |
12: 108,286,238 (GRCm39) |
N515I |
possibly damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,453,363 (GRCm39) |
E5317D |
probably damaging |
Het |
| Hsf5 |
T |
A |
11: 87,513,617 (GRCm39) |
N227K |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,910,196 (GRCm39) |
D129E |
probably benign |
Het |
| Invs |
T |
C |
4: 48,397,609 (GRCm39) |
F339L |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,239,656 (GRCm39) |
S17T |
probably benign |
Het |
| Mdga2 |
T |
A |
12: 66,844,501 (GRCm39) |
I166F |
probably benign |
Het |
| Nck1 |
T |
C |
9: 100,388,797 (GRCm39) |
I6V |
probably benign |
Het |
| Neb |
T |
C |
2: 52,040,589 (GRCm39) |
D6624G |
probably benign |
Het |
| Nmur2 |
A |
G |
11: 55,931,661 (GRCm39) |
Y17H |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,964,310 (GRCm39) |
L1298P |
probably damaging |
Het |
| Ocel1 |
A |
G |
8: 71,825,397 (GRCm39) |
E161G |
probably damaging |
Het |
| Or1j16 |
A |
T |
2: 36,530,991 (GRCm39) |
|
probably null |
Het |
| Pabpc2 |
A |
G |
18: 39,907,881 (GRCm39) |
Y382C |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,921,594 (GRCm39) |
|
probably benign |
Het |
| Pdhx |
A |
T |
2: 102,872,641 (GRCm39) |
V147D |
probably benign |
Het |
| Pigz |
A |
T |
16: 31,764,151 (GRCm39) |
H403L |
probably damaging |
Het |
| Pilra |
T |
C |
5: 137,833,769 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
T |
C |
5: 66,184,036 (GRCm39) |
D189G |
probably damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,031,451 (GRCm39) |
L558P |
probably damaging |
Het |
| Scarf2 |
G |
A |
16: 17,621,380 (GRCm39) |
R322H |
probably damaging |
Het |
| Septin3 |
T |
C |
15: 82,174,658 (GRCm39) |
|
probably null |
Het |
| Sirt2 |
T |
C |
7: 28,476,438 (GRCm39) |
F26L |
probably damaging |
Het |
| Slc1a1 |
A |
T |
19: 28,871,925 (GRCm39) |
T133S |
probably benign |
Het |
| Slc1a2 |
A |
G |
2: 102,568,214 (GRCm39) |
I84V |
probably benign |
Het |
| Slc28a2b |
A |
T |
2: 122,353,286 (GRCm39) |
K489* |
probably null |
Het |
| Slc6a9 |
A |
T |
4: 117,725,092 (GRCm39) |
Q562L |
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,167,773 (GRCm39) |
Q25* |
probably null |
Het |
| St6galnac6 |
A |
G |
2: 32,508,555 (GRCm39) |
I231V |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,526,604 (GRCm39) |
T954A |
probably benign |
Het |
| Sufu |
A |
G |
19: 46,472,069 (GRCm39) |
M443V |
possibly damaging |
Het |
| Sv2b |
T |
C |
7: 74,856,266 (GRCm39) |
D8G |
probably benign |
Het |
| Tapbpl |
G |
A |
6: 125,205,248 (GRCm39) |
R233W |
probably damaging |
Het |
| Tex10 |
A |
G |
4: 48,469,990 (GRCm39) |
L25S |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,041,794 (GRCm39) |
V1254D |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,839,126 (GRCm39) |
D575G |
probably damaging |
Het |
| Usf2 |
A |
T |
7: 30,654,197 (GRCm39) |
D166E |
probably damaging |
Het |
| Usp25 |
T |
A |
16: 76,911,877 (GRCm39) |
L969M |
probably damaging |
Het |
| Usp32 |
G |
A |
11: 84,885,219 (GRCm39) |
P1276L |
probably damaging |
Het |
| Vmn2r8 |
T |
A |
5: 108,956,447 (GRCm39) |
E58D |
probably benign |
Het |
| Zfp462 |
G |
T |
4: 55,011,598 (GRCm39) |
C40F |
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 |
|
|
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'- ATCTAGACAGGGCCTATGGAAG -3'
(R):5'- ACAGGTCTAAGAGGAGCTTACC -3'
Sequencing Primer
(F):5'- CATATAGGACATGATCAACTGAAGC -3'
(R):5'- CCTAGAAGGTCAATCTGTGGAAGCC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation