Incidental Mutation 'R3910:Ugt1a8'
| ID |
309324 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt1a8
|
| Ensembl Gene |
ENSMUSG00000089675 |
| Gene Name |
UDP glucuronosyltransferase 1 family, polypeptide A8 |
| Synonyms |
A116, OTTMUSG00000020811 |
| MMRRC Submission |
040815-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R3910 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
88015550-88146720 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88015770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 61
(E61G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073772]
[ENSMUST00000113139]
[ENSMUST00000113142]
[ENSMUST00000138182]
[ENSMUST00000173325]
|
| AlphaFold |
D3Z748 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073772
|
| SMART Domains |
Protein: ENSMUSP00000073444
Gene: ENSMUSG00000090175
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
24 |
519 |
2.3e-232 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
358 |
447 |
4.5e-9 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113139
AA Change: E61G
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108764
Gene: ENSMUSG00000089675
AA Change: E61G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
26 |
521 |
3.6e-237 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
360 |
449 |
1.3e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113142
|
| SMART Domains |
Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
26 |
521 |
7.3e-231 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
360 |
449 |
1.3e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138182
|
| SMART Domains |
Protein: ENSMUSP00000119985
Gene: ENSMUSG00000090165
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
26 |
62 |
7e-11 |
PFAM |
|
Pfam:UDPGT
|
58 |
207 |
1.9e-90 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
137 |
207 |
4.8e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173165
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173325
|
| SMART Domains |
Protein: ENSMUSP00000134443
Gene: ENSMUSG00000090165
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
26 |
61 |
3.4e-10 |
PFAM |
|
Pfam:UDPGT
|
59 |
210 |
8.9e-92 |
PFAM |
|
| Meta Mutation Damage Score |
0.5717 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bod1l |
T |
C |
5: 41,974,441 (GRCm39) |
E2291G |
probably damaging |
Het |
| Cchcr1 |
T |
C |
17: 35,836,233 (GRCm39) |
V341A |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,399,253 (GRCm39) |
V119A |
possibly damaging |
Het |
| Fap |
A |
G |
2: 62,386,448 (GRCm39) |
S58P |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,459,426 (GRCm39) |
T2509S |
probably damaging |
Het |
| Fnip2 |
A |
T |
3: 79,386,812 (GRCm39) |
D971E |
possibly damaging |
Het |
| Gab2 |
A |
G |
7: 96,948,280 (GRCm39) |
Y290C |
probably damaging |
Het |
| Gm7104 |
C |
T |
12: 88,251,364 (GRCm39) |
|
noncoding transcript |
Het |
| Ints10 |
T |
A |
8: 69,266,272 (GRCm39) |
S478T |
probably damaging |
Het |
| Iqca1l |
A |
T |
5: 24,750,440 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Krt90 |
G |
A |
15: 101,471,218 (GRCm39) |
R15W |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,423,368 (GRCm39) |
S11P |
possibly damaging |
Het |
| Mycn |
T |
A |
12: 12,987,281 (GRCm39) |
N372I |
probably damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,072 (GRCm39) |
V199D |
probably damaging |
Het |
| Or9a2 |
A |
G |
6: 41,749,083 (GRCm39) |
V50A |
probably benign |
Het |
| Paxbp1 |
T |
A |
16: 90,839,569 (GRCm39) |
E117V |
probably damaging |
Het |
| Phc2 |
T |
C |
4: 128,637,351 (GRCm39) |
|
probably null |
Het |
| Prr5 |
T |
A |
15: 84,587,345 (GRCm39) |
V365E |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,696,552 (GRCm39) |
I521M |
probably damaging |
Het |
| Robo3 |
A |
T |
9: 37,330,591 (GRCm39) |
Y1002N |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,145,156 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
A |
G |
6: 12,331,548 (GRCm39) |
V1342A |
probably damaging |
Het |
| Tmtc3 |
A |
C |
10: 100,284,888 (GRCm39) |
N582K |
probably damaging |
Het |
| Tnfrsf11b |
G |
A |
15: 54,119,578 (GRCm39) |
|
probably benign |
Het |
| Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
| Vmn1r75 |
A |
T |
7: 11,614,757 (GRCm39) |
N163I |
possibly damaging |
Het |
| Vps35l |
A |
G |
7: 118,345,613 (GRCm39) |
T49A |
possibly damaging |
Het |
| Zfp119a |
G |
A |
17: 56,173,520 (GRCm39) |
L108F |
probably benign |
Het |
|
| Other mutations in Ugt1a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:Ugt1a8
|
APN |
1 |
88,015,617 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01404:Ugt1a8
|
APN |
1 |
88,015,617 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02838:Ugt1a8
|
APN |
1 |
88,016,399 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0220:Ugt1a8
|
UTSW |
1 |
88,016,057 (GRCm39) |
missense |
probably benign |
|
|
R0504:Ugt1a8
|
UTSW |
1 |
88,016,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2087:Ugt1a8
|
UTSW |
1 |
88,015,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4297:Ugt1a8
|
UTSW |
1 |
88,015,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5213:Ugt1a8
|
UTSW |
1 |
88,015,845 (GRCm39) |
nonsense |
probably null |
|
|
R7048:Ugt1a8
|
UTSW |
1 |
88,016,024 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7592:Ugt1a8
|
UTSW |
1 |
88,015,904 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8698:Ugt1a8
|
UTSW |
1 |
88,015,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9252:Ugt1a8
|
UTSW |
1 |
88,015,706 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGTCCCAGCCCATGTATTC -3'
(R):5'- AGTACTTGGAAGAAACCTTTGCC -3'
Sequencing Primer
(F):5'- AGCCCATGTATTCTCCTGGG -3'
(R):5'- TGGAAGAAACCTTTGCCTGAATGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation