Incidental Mutation 'R4297:Ugt1a8'
ID |
323373 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt1a8
|
Ensembl Gene |
ENSMUSG00000089675 |
Gene Name |
UDP glucuronosyltransferase 1 family, polypeptide A8 |
Synonyms |
A116, OTTMUSG00000020811 |
MMRRC Submission |
041085-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.142)
|
Stock # |
R4297 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
88015550-88146720 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88015826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 80
(S80P)
|
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 |
probably benign
Transcript: ENSMUST00000113139
AA Change: S80P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000108764 Gene: ENSMUSG00000089675 AA Change: S80P
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 |
0.1516 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
85% (33/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
Alkbh3 |
C |
T |
2: 93,838,469 (GRCm39) |
R34H |
probably benign |
Het |
Cacna1e |
T |
G |
1: 154,274,477 (GRCm39) |
S2143R |
probably benign |
Het |
Camkk2 |
A |
G |
5: 122,883,769 (GRCm39) |
|
probably null |
Het |
Cep295 |
A |
G |
9: 15,233,950 (GRCm39) |
V2282A |
probably benign |
Het |
Cfap46 |
A |
C |
7: 139,232,589 (GRCm39) |
D827E |
probably benign |
Het |
Col5a1 |
T |
C |
2: 27,907,216 (GRCm39) |
|
probably null |
Het |
Col6a3 |
T |
A |
1: 90,739,100 (GRCm39) |
E376V |
probably damaging |
Het |
Creld2 |
T |
C |
15: 88,707,956 (GRCm39) |
C232R |
probably damaging |
Het |
Ctdp1 |
A |
T |
18: 80,493,172 (GRCm39) |
V441E |
probably benign |
Het |
Cyp2a4 |
A |
G |
7: 26,006,793 (GRCm39) |
T51A |
probably damaging |
Het |
Dgke |
A |
T |
11: 88,941,556 (GRCm39) |
V273D |
probably damaging |
Het |
Epcam |
T |
C |
17: 87,947,962 (GRCm39) |
|
probably null |
Het |
Fpr-rs3 |
A |
T |
17: 20,845,008 (GRCm39) |
N44K |
probably damaging |
Het |
Glipr1l1 |
A |
T |
10: 111,898,252 (GRCm39) |
D119V |
probably benign |
Het |
Gm6818 |
A |
T |
7: 38,101,877 (GRCm39) |
|
noncoding transcript |
Het |
Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
Gsto2 |
A |
C |
19: 47,864,935 (GRCm39) |
E156A |
possibly damaging |
Het |
Hbb-bs |
T |
C |
7: 103,475,951 (GRCm39) |
D122G |
probably benign |
Het |
Mc5r |
T |
C |
18: 68,472,378 (GRCm39) |
F246L |
probably benign |
Het |
Ncapd3 |
A |
G |
9: 26,963,623 (GRCm39) |
N492S |
probably benign |
Het |
Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc6a21 |
G |
A |
7: 44,937,186 (GRCm39) |
V239M |
possibly damaging |
Het |
St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
Ttn |
C |
A |
2: 76,556,607 (GRCm39) |
G30133C |
probably damaging |
Het |
Vax1 |
G |
T |
19: 59,154,683 (GRCm39) |
S318* |
probably null |
Het |
Vcam1 |
A |
T |
3: 115,910,892 (GRCm39) |
V502E |
probably benign |
Het |
Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
Vps18 |
T |
A |
2: 119,127,812 (GRCm39) |
C878* |
probably null |
Het |
Wdr11 |
A |
G |
7: 129,226,910 (GRCm39) |
R791G |
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 |
R3910:Ugt1a8
|
UTSW |
1 |
88,015,770 (GRCm39) |
missense |
possibly damaging |
0.89 |
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'- AGCCCATGTATTCTCCTGGG -3'
(R):5'- AGATCTCTGCTTCAAGTACTCCAC -3'
Sequencing Primer
(F):5'- CCATGTATTCTCCTGGGCTGTG -3'
(R):5'- AAGTACTCCACTAACTTCTTGTCG -3'
|
Posted On |
2015-06-20 |