Incidental Mutation 'R8414:Ugt3a1'
| ID |
652853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt3a1
|
| Ensembl Gene |
ENSMUSG00000072664 |
| Gene Name |
UDP glycosyltransferases 3 family, polypeptide A1 |
| Synonyms |
|
| MMRRC Submission |
067768-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R8414 (G1)
|
| Quality Score |
129.008 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
9276888-9315032 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9310583 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 317
(N317S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022861]
|
| AlphaFold |
Q3UP75 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022861
AA Change: N317S
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664
AA Change: N317S
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432K21Rik |
A |
T |
8: 84,167,323 (GRCm38) |
E373V |
probably damaging |
Het |
| 9530053A07Rik |
T |
A |
7: 28,142,733 (GRCm38) |
C698S |
probably damaging |
Het |
| AA467197 |
T |
C |
2: 122,638,317 (GRCm38) |
Y33H |
probably damaging |
Het |
| Abcc10 |
T |
C |
17: 46,312,347 (GRCm38) |
R880G |
probably benign |
Het |
| Abcg2 |
T |
A |
6: 58,669,236 (GRCm38) |
Y246N |
probably benign |
Het |
| Abhd18 |
A |
G |
3: 40,933,626 (GRCm38) |
M302V |
probably benign |
Het |
| Ablim2 |
A |
G |
5: 35,874,891 (GRCm38) |
D568G |
possibly damaging |
Het |
| Alpk2 |
T |
C |
18: 65,307,471 (GRCm38) |
R284G |
possibly damaging |
Het |
| AU021092 |
T |
C |
16: 5,216,785 (GRCm38) |
Y191C |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,064,477 (GRCm38) |
T751S |
probably benign |
Het |
| Ccdc136 |
A |
G |
6: 29,412,930 (GRCm38) |
E438G |
probably damaging |
Het |
| Cul2 |
C |
A |
18: 3,399,912 (GRCm38) |
N15K |
probably benign |
Het |
| Eml2 |
C |
A |
7: 19,179,295 (GRCm38) |
Q73K |
probably damaging |
Het |
| Epha6 |
C |
A |
16: 60,005,667 (GRCm38) |
R588S |
probably damaging |
Het |
| Eppk1 |
C |
T |
15: 76,110,119 (GRCm38) |
R854Q |
probably benign |
Het |
| Fbxw28 |
C |
T |
9: 109,326,536 (GRCm38) |
W389* |
probably null |
Het |
| Gbp4 |
A |
T |
5: 105,136,837 (GRCm38) |
V62E |
probably benign |
Het |
| Gm30302 |
A |
G |
13: 49,787,797 (GRCm38) |
S56P |
probably damaging |
Het |
| Gtf2h1 |
C |
A |
7: 46,815,344 (GRCm38) |
T401K |
possibly damaging |
Het |
| Hif1a |
G |
T |
12: 73,937,654 (GRCm38) |
M294I |
probably benign |
Het |
| Irak2 |
A |
G |
6: 113,686,942 (GRCm38) |
N484S |
probably benign |
Het |
| Kcnj16 |
A |
G |
11: 111,025,615 (GRCm38) |
T368A |
probably benign |
Het |
| Kcnq1 |
G |
A |
7: 143,363,666 (GRCm38) |
G588D |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,479,424 (GRCm38) |
R360C |
probably damaging |
Het |
| Nckap5 |
T |
G |
1: 126,014,620 (GRCm38) |
E1582D |
probably damaging |
Het |
| Nrip3 |
A |
G |
7: 109,763,528 (GRCm38) |
I183T |
possibly damaging |
Het |
| Olfr1222 |
A |
G |
2: 89,125,714 (GRCm38) |
F6L |
probably benign |
Het |
| Olfr979 |
T |
A |
9: 40,000,945 (GRCm38) |
H94L |
probably benign |
Het |
| Pcdha2 |
C |
T |
18: 36,941,566 (GRCm38) |
S750L |
probably damaging |
Het |
| Pik3r2 |
T |
C |
8: 70,770,435 (GRCm38) |
Y447C |
probably damaging |
Het |
| Poteg |
T |
C |
8: 27,448,040 (GRCm38) |
Y75H |
probably benign |
Het |
| Proser1 |
G |
C |
3: 53,478,556 (GRCm38) |
G620R |
probably damaging |
Het |
| Prpsap1 |
A |
T |
11: 116,478,613 (GRCm38) |
L164H |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,644,916 (GRCm38) |
V195E |
possibly damaging |
Het |
| Sarm1 |
A |
T |
11: 78,487,968 (GRCm38) |
V417D |
probably damaging |
Het |
| She |
A |
G |
3: 89,831,867 (GRCm38) |
T122A |
probably benign |
Het |
| Srpr |
A |
G |
9: 35,214,837 (GRCm38) |
E442G |
probably benign |
Het |
| Sult2a6 |
T |
A |
7: 14,250,432 (GRCm38) |
R124S |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,733,763 (GRCm38) |
T1384A |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,293,509 (GRCm38) |
V1087A |
probably damaging |
Het |
| Ticam1 |
T |
A |
17: 56,271,340 (GRCm38) |
I252L |
probably benign |
Het |
| Trbv31 |
C |
A |
6: 41,557,763 (GRCm38) |
D89Y |
possibly damaging |
Het |
| Trpc7 |
G |
A |
13: 56,822,469 (GRCm38) |
T434I |
probably benign |
Het |
| Tubgcp4 |
T |
A |
2: 121,194,153 (GRCm38) |
I603N |
probably benign |
Het |
| Vdac1 |
C |
T |
11: 52,376,503 (GRCm38) |
T77I |
possibly damaging |
Het |
| Vmn2r113 |
A |
T |
17: 22,958,779 (GRCm38) |
R846* |
probably null |
Het |
| Zc3h12d |
GCCC |
GCC |
10: 7,839,971 (GRCm38) |
|
probably null |
Het |
| Zranb2 |
G |
T |
3: 157,546,675 (GRCm38) |
R310S |
unknown |
Het |
|
| Other mutations in Ugt3a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00912:Ugt3a1
|
APN |
15 |
9,310,612 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01752:Ugt3a1
|
APN |
15 |
9,306,146 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02438:Ugt3a1
|
APN |
15 |
9,291,976 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
PIT4354001:Ugt3a1
|
UTSW |
15 |
9,306,360 (GRCm38) |
nonsense |
probably null |
|
|
R0127:Ugt3a1
|
UTSW |
15 |
9,306,256 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0647:Ugt3a1
|
UTSW |
15 |
9,310,549 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0841:Ugt3a1
|
UTSW |
15 |
9,306,128 (GRCm38) |
missense |
probably benign |
0.07 |
|
R1395:Ugt3a1
|
UTSW |
15 |
9,306,292 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1616:Ugt3a1
|
UTSW |
15 |
9,306,244 (GRCm38) |
nonsense |
probably null |
|
|
R2338:Ugt3a1
|
UTSW |
15 |
9,291,973 (GRCm38) |
splice site |
probably benign |
|
|
R3797:Ugt3a1
|
UTSW |
15 |
9,310,641 (GRCm38) |
nonsense |
probably null |
|
|
R4305:Ugt3a1
|
UTSW |
15 |
9,306,274 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4385:Ugt3a1
|
UTSW |
15 |
9,306,479 (GRCm38) |
missense |
probably benign |
0.15 |
|
R4572:Ugt3a1
|
UTSW |
15 |
9,306,393 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4611:Ugt3a1
|
UTSW |
15 |
9,306,400 (GRCm38) |
nonsense |
probably null |
|
|
R4744:Ugt3a1
|
UTSW |
15 |
9,310,553 (GRCm38) |
missense |
probably benign |
0.36 |
|
R5715:Ugt3a1
|
UTSW |
15 |
9,306,344 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6036:Ugt3a1
|
UTSW |
15 |
9,306,086 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6036:Ugt3a1
|
UTSW |
15 |
9,306,086 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6156:Ugt3a1
|
UTSW |
15 |
9,310,676 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R6228:Ugt3a1
|
UTSW |
15 |
9,310,640 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R6344:Ugt3a1
|
UTSW |
15 |
9,306,231 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6380:Ugt3a1
|
UTSW |
15 |
9,306,455 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6383:Ugt3a1
|
UTSW |
15 |
9,306,455 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6737:Ugt3a1
|
UTSW |
15 |
9,311,809 (GRCm38) |
missense |
probably benign |
0.30 |
|
R6848:Ugt3a1
|
UTSW |
15 |
9,280,052 (GRCm38) |
splice site |
probably null |
|
|
R6937:Ugt3a1
|
UTSW |
15 |
9,292,072 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7061:Ugt3a1
|
UTSW |
15 |
9,306,154 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7672:Ugt3a1
|
UTSW |
15 |
9,310,693 (GRCm38) |
nonsense |
probably null |
|
|
R7840:Ugt3a1
|
UTSW |
15 |
9,311,817 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7945:Ugt3a1
|
UTSW |
15 |
9,284,175 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8105:Ugt3a1
|
UTSW |
15 |
9,306,390 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8981:Ugt3a1
|
UTSW |
15 |
9,311,928 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9111:Ugt3a1
|
UTSW |
15 |
9,306,247 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R9451:Ugt3a1
|
UTSW |
15 |
9,292,072 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9567:Ugt3a1
|
UTSW |
15 |
9,306,284 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9657:Ugt3a1
|
UTSW |
15 |
9,280,047 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTGTTTTCGTGTCATGC -3'
(R):5'- TGTGATTGCTTGCCTCCTAG -3'
Sequencing Primer
(F):5'- ATGCTGCTTTGGCCTTTACAAAC -3'
(R):5'- TGCCAGTCCAAGTGTTCAGAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation